Short-rib thoracic dysplasia 1 with or without polydactyly

Preferred Label : Short-rib thoracic dysplasia 1 with or without polydactyly;

Symbol : SRTD1;

CISMeF acronym : ATD1; SRTD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Thoracic-pelvic-phalangeal dystrophy; Asphyxiating thoracic dystrophy 1; Jeune syndrome; ATD1;

Description : Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy due to respiratory insufficiency. Affected individuals who survive early childhood usually develop chronic cystic renal and hepatic disease (Oberklaid et al., 1977). Other features include retinal degeneration (Bard et al., 1978) and pancreatic cysts (Hopper et al., 1979). - Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia Asphyxiating thoracic dysplasia is a genetically heterogeneous disorder. ATD1 has been mapped to chromosome 15q13. See also ATD2 (611263), caused by mutation in the IFT80 gene on chromosome 3q; ATD3 (613091), caused by mutation in the DYNC2H1 gene (603297) on chromosome 11q; ATD4 (613819), caused by mutation in the TTC21B gene (612014) on chromosome 2q24; and ATD5 (614376), caused by mutation in the WDR19 gene (608151) on chromosome 4p14.;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Proteinuria; Hyperbilirubinemia, direct;

Prefixed ID : %208500;

Details

Origin ID

208500;

UMLS CUI

C4551856;

Broader ORDO disease(s)
- Jeune syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Asphyxiating thoracic dysplasia [PASCAL descriptor]
- Asphyxiating thoracic dystrophy [ICD-11 Sub-sub category]
- Asphyxiating thoracic dystrophy [MedDRA Preferred Term]
- Jeune Syndrome [NCIt concept]
- Jeune syndrome [MeSH concept]
- Jeune syndrome [ORDO Disease]
- Jeune's syndrome [MedDRA LLT]
- asphyxiating thoracic dystrophy [Disease (Nov.)]
- asphyxiating thoracic dystrophy [DO Concept]
- asphyxiating thoracic dystrophy 1 [DO Concept]
- jeune syndrome [MeSH Supplementary Concept]
- jeune thoracic dystrophy [SNOMED Notion]
DO Cross reference
- asphyxiating thoracic dystrophy 1 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Brachydactyly [HPO term]
- Chronic kidney disease [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Death in infancy [HPO term]
- Early ossification of capital femoral epiphyses [HPO term]
- Fibular hypoplasia [HPO term]
- Foot polydactyly [HPO term]
- Hand polydactyly [HPO term]
- Hepatic fibrosis [HPO term]
- Horizontal ribs [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic pelvis [HPO term]
- Irregular epiphyses [HPO term]
- Jaundice [HPO term]
- Lateral clavicle hook [HPO term]
- Metaphyseal irregularity [HPO term]
- Narrow chest [HPO term]
- Nephritis [HPO term]
- Pancreatic cysts [HPO term]
- Pancreatic fibrosis [HPO term]
- Polycystic liver disease [HPO term]
- Proteinuria [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pulmonary insufficiency [HPO term]
- Recurrent respiratory infections [HPO term]
- Renal cyst [HPO term]
- Renal insufficiency [HPO term]
- Respiratory insufficiency [HPO term]
- Retinal degeneration [HPO term]
- Short phalanx of finger [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Small pelvis [HPO term]
- Thoracic dysplasia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Jeune syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Asphyxiating thoracic dysplasia [PASCAL descriptor]
- Asphyxiating thoracic dystrophy [MedDRA Preferred Term]
- Jeune Syndrome [NCIt concept]
- Jeune syndrome [MeSH concept]
- Jeune syndrome [ORDO Disease]
- Jeune thoracic dystrophy (disorder) [SNOMED CT concept]
- Jeune's syndrome [MedDRA LLT]
- asphyxiating thoracic dystrophy [DO Concept]
- asphyxiating thoracic dystrophy [Disease (Nov.)]
- asphyxiating thoracic dystrophy 1 [DO Concept]
- jeune syndrome [MeSH Supplementary Concept]
- jeune thoracic dystrophy [SNOMED Notion]
Validated automatic mappings to NTBT
- Jeune thoracic dystrophy (disorder) [SNOMED CT concept]

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