TaoMedAI/RareMedData huggingface dataset:
Typical nemaline myopathy (ORPHA:171436)
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births and the typical form to represent about 50% of all cases.
Clinical description
Disease onset is in the neonatal period. Patients have a long face, a high-arched palate and a tented upper lip. Skeletal anomalies may include kyphoscoliosis, pectus carinatum and pes cavus. In the first year of life, hypotonia and facial weakness are present and often contribute to failure to thrive and delayed motor development. Anti-gravity movements are present and respiratory muscle involvement is frequent. Nocturnal hypoxia and hypercarbia and lower respiratory tract infections are common manifestations. Joint hypermobility can be observed. In a minority of children weakness is more distal. Progression is very slow or absent and most patients are able to live an independent active life.
Etiology
Typical NM is caused by mutations of the ACTA1 (1q42.13), NEB (2q22) or TPM2 (9p13) genes, and disease transmission can be autosomal recessive or dominant.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Dr Monique RYAN
Tyrosinemia type 3 (ORPHA:69723)
A rare inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
Epidemiology
It is the least frequent form of tyrosinemia with less than 20 cases reported in the literature so far.
Clinical description
The clinical picture is highly variable ranging from asymptomatic in some patients identified through neonatal screening program studies to patients with neurologic manifestations including intellectual deficit, ataxia, tremors and seizures.
Etiology
Tyrosinemia type 3 is caused by mutations in the HPD gene (12q24.31) encoding 4-hydroxyphenylpyruvate dioxygenase.
Diagnostic methods
Detection of elevated tyrosine in the blood and detection of tyrosine derivatives in the urine is suggestive of the disease. The diagnosis is confirmed by enzyme assay, revealing accumulation of 4-hydroxyphenylpyruvate dioxygenase in the liver or kidney, or by mutation testing.
Differential diagnosis
The differential diagnosis broadly includes neurological disorders with psychomotor and/or intellectual disability of other etiology.
Antenatal diagnosis
Antenatal diagnosis is possible when a disease-causing mutation has been identified in the family.
Genetic counseling
Tyrosinemia type 3 is an autosomal recessive disorder. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them there is a 25% chance of having an affected child at each pregnancy.
Management and treatment
Although it has not been clearly established that treatment prevents the onset of symptoms, it is currently recommended that, patients with tyrosinemia type 3 follow a phenylalanine- and tyrosine-restricted diet.
Prognosis
Tyrosinemia type 3 has no impact on life expectancy. Intellectual disability, usually mild to moderate, may require adaptations to daily life.

                            Last update: 
                            June 2023


                            - Expert reviewer(s): 
                            Dr Corinne DE LAET | MetabERN*


                                * European Reference Network
Uhl anomaly (ORPHA:3403)
Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.
Ulbright-Hodes syndrome (ORPHA:3404)
Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
Ulerythema ophryogenesis (ORPHA:3406)
Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.
Ulna hypoplasia-intellectual disability syndrome (ORPHA:2249)
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
Epidemiology
It has been reported in two sibs.
Genetic counseling
The family is suggestive of autosomal recessive inheritance.
Prognosis
Prognosis is poor.

                            Last update: 
                            September 2010
Ulnar hypoplasia-split foot syndrome (ORPHA:1122)
Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
Ulnar/fibula ray defect-brachydactyly syndrome (ORPHA:52056)
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.
Unclassified myelodysplastic syndrome (ORPHA:98827)
Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.
Epidemiology
Prevalence is unknown but MDS-U appears to account for a very low proportion of MSD cases.
Clinical description
Unclassified MDS covers cases that cannot be allocated to another subtype of MSD after a full diagnostic work-up has been performed including clinical, morphologic, immunophenotypic, or cytogenetic testing. One or more cytopenias are a standard feature of MDS-U but other clinical features are variable. The following cases are considered to fall into this subtype: features of refractory cytopenia with uni- or multi-lineage dysplasia (RCUD, RCMD, see these terms) but with 1% blasts in peripheral blood, unilineage dysplasia with pancytopenia, and persistent cytopenias without morphological features of MDS associated with characteristic cytogenetic abnormalities.
Etiology
The etiology is not known but is thought to involve inherited susceptibility or hematopoietic stem cell damage.

                            Last update: 
                            February 2015
Unclassified myelodysplastic/myeloproliferative disease (ORPHA:98825)
A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met.
Unclassified vasculitis (ORPHA:251328)
A rare vasculitis characterized by an inflammatory disease of blood vessels which cannot be assigned to any of the known categories of vasculitis. Clinical features are highly variable, depending on the nature and extent of the inflammatory process, as well as the type of vessels and organ systems involved.
Uncombable hair syndrome (ORPHA:1410)
Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.
Epidemiology
Prevalence is unknown.
Clinical description
Onset is usually between ages 3 months and 12 years. Hair becomes progressively silvery-blond or straw-colored, dry and disordered, standing out from the scalp and growing in different directions, and being unmanageable to comb it flat. The quantity of hair stays normal. Microscopic analysis reveals a longitudinal groove of the hair shaft with a triangular or kidney-shaped section. The anomaly is clinically detectable when approximately 50% of hairs are affected. Several conditions have been reported to occur with UHS such as ectodermal dysplasia, retinal dysplasia, retinal pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth enamel anomalies, oligodontia, phalango-epiphyseal dysplasia, alopecia areata, atopic eczema, and ichthyosis vulgaris.
Etiology
The stiffness and brightness of hair are supposed to result from a misshapen dermal papilla inducing an anomaly in the keratinization of the inner root sheath.
Diagnostic methods
Diagnosis relies on clinical and microscopic observation, but electron microscopic analysis of hair shaft can eliminate other hair anomalies.
Differential diagnosis
Differential diagnosis includes Rapp-Hodgkin ectodermal dysplasia, loose anagen hair syndrome, ectrodactyly, cleft/lip palate syndrome, familial tricho-odonto-onchyial ectodermal dysplasia with syndactyly and other ectodermal dysplasias.
Genetic counseling
UHS is likely to be an autosomal dominant inherited disease with a variable penetrance but no causal gene has been identified yet.
Management and treatment
UHS spontaneously regresses in late childhood and only gentle care including conditioners, soft brushes and avoidance of harsh treatments cares of the hair are recommended. Biotin treatment as been used in several patients and might be useful to control nail fragility, leading to acclaimed increase in hair growth after 4 months of supplementation.

                            Last update: 
                            January 2012


                            - Expert reviewer(s): 
                            Pr Alexander NAVARINI
Undetermined colitis (ORPHA:103920)
Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohns disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.
Undifferentiated carcinoma of esophagus (ORPHA:418951)
A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.
Undifferentiated carcinoma of liver and intrahepatic biliary tract (ORPHA:424970)
Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated.
Undifferentiated carcinoma of stomach (ORPHA:423786)
Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.
Undifferentiated carcinoma of the corpus uteri (ORPHA:213721)
Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.
Undifferentiated carcinoma with osteoclast-like giant cells of pancreas (ORPHA:424080)
A rare type of pancreatic ductal adenocarcinoma characterized by composition of non-neoplastic osteoclast-like multinucleated giant cells, a mononuclear histiocytic component, and the neoplastic cells, which vary from spindle-shaped to epithelioid and can be very large and pleomorphic. Clinical features of pancreatic ductal adenocarcinoma include abdominal pain, nausea, weight loss, jaundice, and new-onset diabetes.
Undifferentiated connective tissue syndrome (ORPHA:90002)
A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent.
Undifferentiated embryonal sarcoma of the liver (ORPHA:178315)
Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.
Unexplained long-lasting fever/inflammatory syndrome (ORPHA:251332)
A rare systemic disease characterized by febrile illness (body temperature >38.3°C on several occasions) or inflammation (elevated serum C-reactive protein and erythrocyte sedimentation rate) lasting at least three weeks and for which no specific diagnosis is achieved despite extended diagnostics.
Unicentric Castleman disease (ORPHA:93685)
A rare lymphoid hemopathy characterized by involvement of a single lymph node or a group of lymph nodes in one lymph node station (most commonly in the mediastinum, neck, abdomen, or retroperitoneum). Histopathologically, it may occur as a hyaline vascular subtype with hyaline-vascular follicles and a fibrotic and hypervascular stroma with sinus compression, or a mixed/plasmacytic subtype with dense, interfollicular sheets of (usually polytypic) plasma cells extending to the cortex, and variably sized lymphoid follicles including some with regressive changes. Clinically, most patients are asymptomatic, and lesions are detected incidentally.
Unicervical bicornuate uterus (ORPHA:180114)
A rare non-syndromic uterine malformation characterized by a uterus with two uterine horns and only one cervix, resulting from a failure in the fusion of the two Müllerian structures. Depending on the degree of the fusion deficiency, the malformation may be complete with the cavities separated up to the internal orifice of the cervix and not linked, or partial when there is some linkage. Patients may present recurrent pregnancy loss or preterm labor.
Unilateral focal polymicrogyria (ORPHA:268947)
Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.
Unilateral ocular duplication (ORPHA:3374)
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical.
Unilateral polymicrogyria (ORPHA:268943)
Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms).
Univentricular heart (ORPHA:1464)
A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.
Unspecified juvenile idiopathic arthritis (ORPHA:91140)
Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.
Unstable hemoglobin disease (ORPHA:99139)
A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia, depending on the nature of the hemoglobin variant. In symptomatic patients, clinical manifestations are jaundice, splenomegaly, and, in patients with severe anemia, pallor. Additional features include reticulocytosis, presence of Heinz bodies, and pigmenturia.
Upington disease (ORPHA:3408)
A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.
Upper limb defect-eye and ear abnormalities syndrome (ORPHA:2489)
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
Upper limb mesomelic dysplasia, type Fryns (ORPHA:2497)
A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.
Upper tract urothelial carcinoma (ORPHA:598216)
A rare urinary tract tumor characterized by a malignant neoplasm arising from urothelial cells of the pyelocaliceal cavities and ureter. The tumor may be multifocal and bilateral in some cases and is more common in males than in females. Cigarette smoking and occupational exposure are major risk factors. Patients most commonly present with visible or non-visible hematuria and/or flank pain due to obstruction of the flow of urine by tumor tissue, or (less often) to local tumor growth. Systemic symptoms such as anorexia, weight loss, malaise, fatigue, fever, night sweats, or cough can be associated with advanced stages.
Urachal cyst (ORPHA:488)
Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.
Urachal diverticulum (ORPHA:431347)
Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.
Urachal sinus (ORPHA:431344)
Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.
Urban-Rogers-Meyer syndrome (ORPHA:3409)
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
Urocanic aciduria (ORPHA:210128)
A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.
Usher syndrome type 1 (ORPHA:231169)
A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.
Usher syndrome type 2 (ORPHA:231178)
A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.
Usher syndrome type 3 (ORPHA:231183)
A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.
USP18 deficiency (ORPHA:481665)
A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.