Cranioectodermal dysplasia 2

Preferred Label : Cranioectodermal dysplasia 2;

Symbol : CED2;

CISMeF acronym : CED2;

Type : Phenotype, molecular basis known;

Description : Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011). For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein 35 gene (WDR35, 613602.0001);

Prefixed ID : #613610;

Détails

Origin ID

613610;

UMLS CUI

C3150874;

Currated CISMeF NLP mapping
- cranioectodermal dysplasia 2 [DO Concept]
DO Cross reference
- cranioectodermal dysplasia [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 35 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Acidosis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Biliary cirrhosis [HPO term]
- Blepharophimosis [HPO term]
- Brachydactyly [HPO term]
- Broad philtrum [HPO term]
- Cholangitis [HPO term]
- Cholestasis [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Cloverleaf skull [HPO term]
- Craniosynostosis [HPO term]
- Cutis laxa [HPO term]
- Cystic hygroma [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Ectodermal dysplasia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Horizontal ribs [HPO term]
- Hydrops fetalis [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Inguinal hernia [HPO term]
- Joint laxity [HPO term]
- Left ventricular hypertrophy [HPO term]
- Low-set ears [HPO term]
- Mesomelia [HPO term]
- Metopic synostosis [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow forehead [HPO term]
- Narrow palpebral fissure [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pectus excavatum [HPO term]
- Plagiocephaly [HPO term]
- Polydactyly [HPO term]
- Polyhydramnios [HPO term]
- Polysplenia [HPO term]
- Portal fibrosis [HPO term]
- Postaxial hand polydactyly [HPO term]
- Renal cyst [HPO term]
- Renal insufficiency [HPO term]
- Retrognathia [HPO term]
- Rhizomelia [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Splenomegaly [HPO term]
- Syndactyly [HPO term]
- Telecanthus [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Cranioectodermal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cranioectodermal dysplasia [ORDO Disease]
- cranioectodermal dysplasia [DO Concept]

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