TaoMedAI/RareMedData huggingface dataset:
Deafness-infertility syndrome (ORPHA:94064)
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
Epidemiology
It has been reported in fewer than 5 families.
Etiology
Male infertility is caused by abnormal spermatozoid morphology and motility. DIS is due to a contiguous gene deletion at chromosome 15q15.3 including 2 genes CATSPER2 and STRC, and is inherited in an autosomal recessive manner: affected males are homozygous for the deletion, parents are asymptomatic carriers and homozygous females are deaf but not infertile.

                            Last update: 
                            September 2011
Deafness-intellectual disability syndrome, Martin-Probst type (ORPHA:85321)
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.
Deafness-oligodontia syndrome (ORPHA:3230)
Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.
Deafness-onychodystrophy syndrome (ORPHA:3231)
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.
Deafness-small bowel diverticulosis-neuropathy syndrome (ORPHA:3217)
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.
Deafness-vitiligo-achalasia syndrome (ORPHA:3239)
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.
Epidemiology
It has been described in a brother and his sister born to first-cousin parents.
Genetic counseling
It is likely to be transmitted as an autosomal recessive trait.

                            Last update: 
                            February 2007
Dedifferentiated liposarcoma (ORPHA:99970)
Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .
Epidemiology
The incidence is approximately 1/ 330, 000 persons/year.
Clinical description
DDLS is a fast growing tumor with potential for distant metastasis but this occurs in less than 15% of patients. Like WDLS, it is usually a painless mass, though it can cause symptoms of obstruction, decrease in appetite and abdominal distention.
Etiology
The etiology is unknown. Like WDLS, DDLS usually has amplification of the chromosome region 12q and associated amplification and overexpression of the MDM2, HMGA2 and CDK4 genes.
Prognosis
The 5-year disease-specific survival rate for DDLS overall is 44% but this is location dependent with extremity lesions having a 5-year disease-specific survival rate of greater than 90%.

                            Last update: 
                            January 2013


                            - Expert reviewer(s): 
                            Dr Samuel SINGER
Deep dermatophytosis (ORPHA:397587)
A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. The majority of deep dermatophytoses develop in immunocompromised patients.
Deficiency in anterior pituitary function-variable immunodeficiency syndrome (ORPHA:293978)
A rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.
Dejerine-Sottas syndrome (ORPHA:64748)
A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.
Delayed encephalopathy due to carbon monoxide poisoning (ORPHA:306686)
A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year.
Delayed membranous cranial ossification (ORPHA:3034)
Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome (ORPHA:3038)
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.
Epidemiology
To date, six cases have been reported in five families.
Clinical description
Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal.
Genetic counseling
In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance.

                            Last update: 
                            June 2010
Deletion 5q35 (ORPHA:1627)
Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.
Delta-beta-thalassemia (ORPHA:231237)
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
Epidemiology
Prevalence of this form is not known. The condition is found in many ethnic groups but is most common in Greece and Italy.
Clinical description
The heterozygous form of the condition is clinically asymptomatic with mild microcytosis and no elevation of HbA2 whereas the few homozygous patients have a mild clinical presentation. When inherited with heterozygous classical beta-thalassemia, patients usually have the thalassemia intermedia phenotype, but the thalassemia major phenotype has been described in some cases.
Etiology
Delta-beta-thalassemia is commonly caused by deletions of the entire delta and beta gene sequences with production of only gamma-globin and formation of HbF. Rarely, non-deletional forms have been reported.
Diagnostic methods
Diagnosis is based on hypochromic microcytic red cell indices with significant elevation of HbF, ranging from 5-15% in heterozygotes. HbF is heterogeneously distributed among the erythrocytes. The alpha/beta-globin synthesis ratio is >1.
Differential diagnosis
Hereditary persistence of fetal Hb and beta-thalassemia (see this term) is the main differential diagnosis. The distinction between these two conditions cannot always be made from routine hematologic analyses and alpha-beta-globin chain synthesis ratio and DNA analysis may be necessary.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Pr Renzo GALANELLO  - Dr Raffaella ORIGA
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 (ORPHA:219)
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
Dementia pugilistica (ORPHA:97353)
A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.
Demodicidosis (ORPHA:283)
Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.
Dendritic cell sarcoma not otherwise specified (ORPHA:86903)
A rare dendritic cell tumor characterized by a neoplasm composed of spindled to ovoid cells with phenotypic features similar to those of normal indeterminate cells. The tumor cells consistently express S100 protein and CD1a, while langerin, specific B- and T-cell markers, CD30, the histiocytic marker CD163, and the follicular dendritic cell markers CD21, CD23, and CD35 are negative. Birbeck granules are absent on ultrastructural examination. Patients typically present with multiple papules, nodules, or plaques of the skin. Primary lymph node or splenic involvement is less common. Systemic symptoms are usually absent. The clinical course is highly variable.
Dense deposit disease (ORPHA:93571)
A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.
Dent disease (ORPHA:1652)
A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with CLCN5 variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with OCRL1 variants.
Dental ankylosis (ORPHA:1077)
A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.
Epidemiology
The prevalence is unknown.
Clinical description
In dental ankyloses, the tooth is in contact with the alveolar bone with obliteration of the periodontal ligament and can lead to submergence. It can affect both primary and permanent teeth and may occur at any time during eruption. Permanent molars are less frequently affected than deciduous molars. Varying numbers of teeth may be affected. After eruption, it halts any adaptive changes. In a growing child, an ankylosed tooth appears to 'submerge' as adjacent unaffected teeth and alveolar bone continue their normal pattern of growth occlusally. The disorder may result in loss of the retained molar and neighboring teeth due to caries and periodontal disease, and, in severe cases, deformation of the facial skeleton (reduction in the height of the lower face, relative mandibular prognathism, posterior open bite). Occasionally, dental ankylosis may be associated with fifth finger clinodactyly. Dental ankylosis exists in isolation or associated with other abnormalities as part of a syndrome.
Etiology
Etiology remains uncertain but a genetic predisposition, trauma, inflammation or infection may play a causative role.
Diagnostic methods
Clinical examination and X-ray are the main diagnostic methods for detecting ankylosis.
Differential diagnosis
Differential diagnosis includes mechanical obstruction, primary failure of eruption, and malocclusion.
Genetic counseling
Familial occurrence has been shown in several families, with autosomal dominance inheritance suggested.
Management and treatment
The recommended management includes removing the ankylosed tooth to ensure development and eruption of the permanent teeth, and surgery to expose, protect, or reposition the emerging tooth. Dental composites reestablish occlusion and improves esthetics. Decoronation is recommended in the incisal sector before vertical bone development is complete and the crown reaches a certain degree of infraocclusion. This permits preservation of the alveolar bone for eventual implants after completion of growth. Where primary teeth ankylosed, removal of the affected tooth is recommended to ensure development and eruption of the permanent teeth.
Prognosis
Ankylosed teeth have an unfavorable prognosis with risk of progression to replacement resorption.

                            Last update: 
                            April 2020


                            - Expert reviewer(s): 
                            Dr Marion STRUB
Dentatorubral pallidoluysian atrophy (ORPHA:101)
A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Epidemiology
Worldwide prevalence is unknown. However, the disease is found most commonly in Japan where the prevalence is estimated to be 1/208,000.
Clinical description
Age of onset ranges from 1 to 60 years (mean age = 28.8 years). Patients with earlier onset (below 20 years of age) tend to show myoclonus epilepsy and intellectual deficit. Patients with late onset (over 40 years of age) tend to present with cerebellar ataxia, choreoathetosis and dementia. Clinical features and the age of onset are significantly correlated with the size of CAG repeats. Head magnetic resonance imaging (MRI) shows atrophy of cerebellum, brainstem, cerebrum and high signal has been shown in periventricular white matter.
Etiology
Unstable expansion of CAG repeats in the ATN1 gene (12p13.31) has been demonstrated.
Prognosis
Prognosis is poor. DRPLA progresses rather rapidly. The mean disease duration is about 13 years. Recurrent seizures and dysphagia with frequent fluid and food aspiration lead to bronchopneumonia and subsequent death. However, some patients can reach 60 years of age or more.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Dentin dysplasia type I (ORPHA:99789)
Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.
Epidemiology
Prevalence of DD-I is reported to be 1/100,000.
Clinical description
The condition affects both primary and permanent dentition. Signs of the condition are variable. In patients with DD-I, the teeth are generally unremarkable clinically with a normal shape and color. However, the roots appear sharp with conical, apical constrictions on radiography. The teeth are generally mobile, with frequent abscess formation and can be lost prematurely. Aberrant dentin formation can lead to partial or total pulp obliteration.
Etiology
DD-I is caused by mutations in the DSPP gene (4q21.3) coding for dentin sialophosphoprotein, a precursor for dentin sialoprotein and dentin phosphoprotein which are involved in dentinogenesis.
Diagnostic methods
Since teeth in DD-I appear clinically normal, diagnosis is based on radiographic features (abnormal roots, pulp obliteration, partially obliterated crescent shaped pulp chamber and occasionally pulp stones). Molecular genetic testing can be used to confirm the diagnosis.
Differential diagnosis
Differential diagnoses include conditions that have overlapping clinical or radiographic features with DD such as those leading to early tooth loss: Kostmann syndrome, cyclic neutropenia, Chediak-Hegashi syndrome, Langerhans cell histiocytosis, Papillon-Lefèvre syndrome, hypophosphatasia, and vitamin D-resistant rickets (see these terms).
Genetic counseling
DD-I follows an autosomal dominant pattern of inheritance. There is therefore a 50% risk that a child born to an affected parent will have the condition.
Management and treatment
Appropriate care makes it possible to achieve good esthetic appearance and functional performance.
Prognosis
Prognosis depends primarily on the age of diagnosis and the quality of management.

                            Last update: 
                            September 2012


                            - Expert reviewer(s): 
                            Pr Agnès BLOCH-ZUPAN
Dentin dysplasia type II (ORPHA:99791)
Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.
Epidemiology
Prevalence of DD-II is not known.
Clinical description
In DD-II, features of primary dentition resemble those observed in dentinogenesis imperfecta type 2 (DGI-2, see this term) and include amber translucent coloration, bulbous crowns, cervical constriction, tooth attrition, and short constricted roots. Pulp obliteration is also observed. The permanent dentition seems either unaffected (normal teeth morphology and color) or mild radiographic abnormalities are found (thistle tube-shaped pulp chambers and multiple pulp calcifications).
Etiology
DD-II is caused by mutations in the DSPP gene (4q21.3) coding for dentin sialophosphoprotein, a precursor for dentin sialoprotein and dentin phosphoprotein which are involved in dentinogenesis.
Diagnostic methods
Diagnosis is based on history, clinical examination and radiographic features. Molecular genetic testing can be used to confirm the diagnosis.
Differential diagnosis
Differential diagnoses include conditions that have similar clinical or radiographic features to DD such as osteogenesis imperfecta or dentinogenesis imperfecta (see these terms).
Genetic counseling
DD-2 follows an autosomal dominant pattern of inheritance. There is therefore a 50% risk that a child born to an affected parent will have the condition.
Management and treatment
In the primary dentition, preformed stainless steel crowns on molars may be used to prevent tooth wear and maintain the occlusal vertical dimension. Appropriate care makes it possible to achieve good esthetic appearance and functional performance.
Prognosis
Prognosis depends primarily on the age of diagnosis and the quality of management.

                            Last update: 
                            September 2012


                            - Expert reviewer(s): 
                            Pr Agnès BLOCH-ZUPAN
Dentin dysplasia-sclerotic bones syndrome (ORPHA:99792)
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.
Dentin dysplasia (ORPHA:1653)
Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).
Epidemiology
Prevalence of DD type I is 1/100,000, and that of DD type II is unknown.
Clinical description
There is significant overlap between different types of DD and dentinogenesis imperfecta (DGI, see this term). Two clinical subtypes of DD have been identified. Dentin dysplasia type I (DD-1, see this term) involves sharp conical short roots or rootless teeth and is associated with premature loss of teeth. Dentin dysplasia type II (DD-2, see this term) involves normal tooth roots but abnormal amber color primary dentition, permanent teeth of normal morphology and color with pulp chamber shape anomalies and multiple intrapulpal calcifications.
Etiology
DD is caused by mutations in the DSPP gene (4q21.3) coding for dentin sialophosphoprotein, a precursor for dentin sialoprotein and dentin phosphoprotein.
Genetic counseling
Transmission is autosomal dominant.

                            Last update: 
                            September 2012


                            - Expert reviewer(s): 
                            Pr Agnès BLOCH-ZUPAN