Cranioectodermal dysplasia 4

Preferred Label : Cranioectodermal dysplasia 4;

Symbol : CED4;

CISMeF acronym : CED4;

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-19 gene (WDR19, 608151.0001);

Laboratory abnormalities : Bone marrow hypoplasia (in some patients);

Prefixed ID : #614378;

Details

Origin ID

614378;

UMLS CUI

C3280616;

Currated CISMeF NLP mapping
- cranioectodermal dysplasia 4 [DO Concept]
DO Cross reference
- craniometaphyseal dysplasia [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 19 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Broad distal phalanx of finger [HPO term]
- Broad phalanx of the toes [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Cutis laxa [HPO term]
- Ectodermal dysplasia [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Hip dysplasia [HPO term]
- Hypermetropia [HPO term]
- Joint hypermobility [HPO term]
- Narrow chest [HPO term]
- Nephropathy [HPO term]
- Pectus excavatum [HPO term]
- Pes valgus [HPO term]
- Protruding ear [HPO term]
- Recurrent pneumonia [HPO term]
- Rod-cone dystrophy [HPO term]
- Sagittal craniosynostosis [HPO term]
- Short distal phalanx of finger [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thin vermilion border [HPO term]
ORDO concept(s)
- Cranioectodermal dysplasia [ORDO Disease]
See also inter- (CISMeF)
- CASP8AP2 wt Allele [NCIt concept]
- apoptotic peptidase activating factor 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cranioectodermal dysplasia [ORDO Disease]
- craniometaphyseal dysplasia [DO Concept]

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