TaoMedAI/RareMedData huggingface dataset:
Renal pseudohypoaldosteronism type 1 (ORPHA:171871)
A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.
Renal tubular dysgenesis due to twin-twin transfusion (ORPHA:97367)
A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).
Renal tubular dysgenesis (ORPHA:3033)
A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects.
Epidemiology
The incidence of renal tubular dysgenesis is unknown.
Clinical description
The clinical picture is of early onset oligohydramnios, skull ossification defects and neonatal pulmonary and renal failure.
Etiology
Non-syndromic renal tubular dysgenesis can be acquired during fetal development due to drugs taken by the mother (such as in utero exposure to ACE inhibitors) or in the context of twin-twin transfusion syndrome (TTTS). The genetic form is due to biallelic pathogenic variations in genes encoding either angiotensinogen (AGT; 1q42.2), renin (REN; 1q32.1), angiotensin converting enzyme (ACE ; 17q23.3) or angiotensin 2 receptor type 1(AGTR1; Xq23). Other disorders that can feature renal tubular dysgenesis include severe fetal cardiopathy, congenital hemochromatosis, and severe fetal renal artery stenosis.
Diagnostic methods
The diagnosis is based on renal histology with or without proximal tubule labeling, and molecular genetics.
Differential diagnosis
The differential diagnosis includes secondary forms of renal tubular dysgenesis and leakage of amniotic fluid.
Antenatal diagnosis
Diagnosis may be suspected on routine prenatal ultrasound by presentation of oligohydramnios in the presence of a normal kidney scan. In families with an antecedence, genetic prenatal diagnosis is possible where the pathogenic variations have been previously identified.
Genetic counseling
For the genetic form, transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them that there is a 25% risk of having an affected child at each pregnancy.
Management and treatment
Management is typically expectant. Severe pulmonary hypoplasia is not treatable. Few cases with less severe respiratory disease were treated with peritoneal dialysis, followed by renal transplantation when the weight was sufficient. In cases due to twin-to-twin transfusion, fetoscopic laser photocoagulation, amnioreduction or delivery be suggested.
Prognosis
The prognosis is extremely severe in the majority of cases.

                            Last update: 
                            July 2021


                            - Expert reviewer(s): 
                            Dr Laurence HEIDET | ERKNet*


                                * European Reference Network
Renal tubulopathy-encephalopathy-liver failure syndrome (ORPHA:254902)
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.
Epidemiology
The prevalence is unknown. Several cases have been described in Turkey, Spain, New Zealand and Australia.
Clinical description
Disease presentation is variable. Most of the characteristics of GRACILE syndrome are present (fetal growth restriction, proximal tubulopathy and hepatopathy, as well as lactic acidosis) but they are often less severe. Signs of disturbances in iron metabolism have been described, such as increased serum ferritin levels, but it is unclear whether severe liver iron overload is present. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described.
Etiology
This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain.
Genetic counseling
Renal tubulopathy - encephalopathy - liver failure is inherited autosomal recessively and genetic counseling is possible.

                            Last update: 
                            February 2013


                            - Expert reviewer(s): 
                            Pr Vineta FELLMAN
Renal-hepatic-pancreatic dysplasia (ORPHA:294415)
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.
Renin-angiotensin-aldosterone system-blocker-induced angioedema (ORPHA:100057)
Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Clinical description
Like other forms of AAE it has a later onset than HAE (see this term) and occurs generally in adults.
Etiology
The main causative RAAS-blockers are the angiotensin-converting enzyme inhibitors (ACEIs) which increase levels of bradykinin leading to increased vascular permeability and vasodilation. Angioedema develops in 0.1%-0.5% of patients taking these drugs. Angioedema develops more often at an early phase of treatment, but may also occur with long-term treatment. The same side effect appears more rarely with angiotensin II receptor antagonists (ARAIIs) and direct renin inhibitors (DRIs). Co-administration of ACEI and an antidiabetic agent, dipeptidylptidase-4 (DPP-4) inhibitor, significantly increases the risk of angioedema. This reaction imposes the immediate cessation of these drugs.
Management and treatment
The orphan drug icatibant or C1-INH concentrate can be effective for acute attack treatment.

                            Last update: 
                            August 2011


                            - Expert reviewer(s): 
                            Pr Laurence BOUILLET
RERE-related neurodevelopmental syndrome (ORPHA:494344)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha (ORPHA:566231)
A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta (ORPHA:566243)
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.
Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.
Epidemiology
Prevalence is unknown.
Clinical description
The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age.
Etiology
Resistance to TRH is caused by mutations in the TRH receptor gene (TRHR; 8q23).

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Respiratory bronchiolitis-interstitial lung disease syndrome (ORPHA:79127)
Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.
Reticular dysgenesis (ORPHA:33355)
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
Epidemiology
Reticular dysgenesis accounts for less than 2% of all SCID cases. The annual incidence has been estimated at 1/3,000,000-1/5,000,000. Both males and females are affected, and consanguinity has been noted in several families.
Clinical description
The disease presents earlier than other forms of SCID, at birth or early in the neonatal period, with signs of sepsis, failure to thrive, diarrhea, fever, recurrent infections including upper respiratory tract infections, oral candidiasis, perianal infections and abscesses, and bilateral sensorineural deafness. Despite recurrent infections, no significant lymphoid or tonsillar tissue is evident. Hemoglobin levels are usually within reference ranges at birth, but patients may develop anemia secondary to sepsis and chronic illness.
Etiology
Reticular dysgenesis is characterized by profound neutropenia and T and natural killer (NK) cell lymphocytopenia, and is caused by mutations in the AK2 gene (1p34). The resulting deficiency in adenylate kinase 2 causes increased apoptosis of myeloid and lymphoid precursors. However, patients without this mutation have been observed implying an alternative cause. An imbalance of growth factor independent-1 transcription repressor (Gfi-1) and/or Gfi-1b has been proposed.
Diagnostic methods
Diagnosis is based on evidence of sensorineural deafness in combination with evidence of a marked reduction of T and NK cell counts when compared to age-matched healthy controls. Materno-fetal engraftment is usually present.
Differential diagnosis
Differential diagnosis includes all other forms of SCID.
Antenatal diagnosis
Prenatal diagnosis can be performed in families where there is a family history and where the genetic mutation has been identified.
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
The only curative treatment for this disease is allogenic hematopoietic stem cell transplantation.
Prognosis
Without treatment, patients die from septicemia within days after birth.

                            Last update: 
                            July 2012


                            - Expert reviewer(s): 
                            Pr Andrew GENNERY
Reticular dystrophy of the retinal pigment epithelium (ORPHA:99002)
A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.
Reticulate acropigmentation of Kitamura (ORPHA:178307)
A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.
Retiform hemangioendothelioma (ORPHA:458763)
A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.
Retinal capillary malformation (ORPHA:71213)
Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.
Retinal degeneration-nanophthalmos-glaucoma syndrome (ORPHA:1574)
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (ORPHA:397758)
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome (ORPHA:313800)
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome (ORPHA:3018)
A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.
Retinal macular dystrophy type 2 (ORPHA:319640)
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (ORPHA:247691)
A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome (ORPHA:494439)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome (ORPHA:3085)
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).
Retinitis punctata albescens (ORPHA:52427)
A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.
Reversible cerebral vasoconstriction syndrome (ORPHA:284388)
A rare cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. It may occur spontaneously or be provoked by various precipitating factors, the most common being postpartum and exposure to various vasoactive substances such as illicit drugs and selective serotonin-reuptake inhibitors. The major complication is ischemic or hemorrhagic stroke.
Revesz syndrome (ORPHA:3088)
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
Reye syndrome (ORPHA:3096)
A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated.
RFT1-CDG (ORPHA:244310)
RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).
Rh deficiency syndrome (ORPHA:71275)
A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the RHAG gene), while the amorph type is due to mutations at the RH locus itself.
Rhabdomyosarcoma of the cervix uteri (ORPHA:213802)
Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.
Rhabdomyosarcoma of the corpus uteri (ORPHA:213615)
Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.