Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus

Preferred Label : Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Wolcott-rallison syndrome; Med-iddm syndrome; Iddm-med syndrome;

Description : Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3, 604032.0001);

Prefixed ID : #226980;

Details

Origin ID

226980;

UMLS CUI

C0432217;

Currated CISMeF NLP mapping
- Wolcott-Rallison Syndrome [NCIt concept]
- Wolcott-Rallison dysplasia (disorder) [SNOMED CT concept]
- Wolcott-Rallison syndrome [PASCAL descriptor]
- Wolcott-Rallison syndrome [Disease (Nov.)]
- Wolcott-Rallison syndrome [DO Concept]
- Wolcott-Rallison syndrome [ICD-11 More detail]
- Wolcott-Rallison syndrome [MeSH concept]
- Wolcott-Rallison syndrome [MeSH Supplementary Concept]
- Wolcott-Rallison syndrome [ORDO Disease]
DO Cross reference
- Wolcott-Rallison syndrome [DO Concept]
Genes related to phenotype
- Eukaryotic translation initiation factor 2-alpha kinase 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Carpal bone hypoplasia [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Coxa valga [HPO term]
- Depressed nasal bridge [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flattened epiphysis [HPO term]
- Flattened nasal bridge [HPO term]
- Genu valgum [HPO term]
- Genu varus [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hip subluxation [HPO term]
- Hyperlordosis [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Infantile onset [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Irregular carpal bones [HPO term]
- Irregular tarsal ossification [HPO term]
- Irregular vertebral endplates [HPO term]
- Ivory epiphyses of the phalanges of the hand [HPO term]
- Ivory epiphyses of the toes [HPO term]
- Lordosis [HPO term]
- Microcephaly [HPO term]
- Multiple epiphyseal dysplasia [HPO term]
- Narrow iliac wing [HPO term]
- Osteoporosis [HPO term]
- Platyspondyly [HPO term]
- Preauricular pit [HPO term]
- Reduced pancreatic beta cells [HPO term]
- Renal insufficiency [HPO term]
- Short stature [HPO term]
- Shortening of all middle phalanges of the fingers [HPO term]
- Small epiphyses [HPO term]
- Small, flattened epiphyses [HPO term]
- Small, irregular carpal centers [HPO term]
- Small, irregular carpals [HPO term]
- Type I diabetes mellitus [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Wolcott-Rallison syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wolcott-Rallison Syndrome [NCIt concept]
- Wolcott-Rallison dysplasia (disorder) [SNOMED CT concept]
- Wolcott-Rallison syndrome [ORDO Disease]
- Wolcott-Rallison syndrome [MeSH Supplementary Concept]
- Wolcott-Rallison syndrome [MeSH concept]
- Wolcott-Rallison syndrome [DO Concept]
- Wolcott-Rallison syndrome [PASCAL descriptor]
- Wolcott-Rallison syndrome [Disease (Nov.)]
- Wolcott-Rallison syndrome [MedDRA Preferred Term]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients