Cranioectodermal dysplasia 1

Preferred Label : Cranioectodermal dysplasia 1;

Symbol : CED1;

CISMeF acronym : CED1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sensenbrenner syndrome; Levin syndrome I;

Description : Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by Gilissen et al., 2010). - Genetic Heterogeneity of Cranioectodermal Dysplasia Cranioectodermal dysplasia-2 (CED2; 613610) is caused by mutation in the WDR35 gene (613602) on chromosome 2p24.1; CED3 (614099) is caused by mutation in the IFT43 gene (614068) on chromosome 14q24.3; and CED4 (614378), is caused by mutation in the WDR19 gene (608151) on chromosome 4p14.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the intraflagellar transport 122 gene (IFT122, 606045.0001).;

Laboratory abnormalities : Hypocalcemia;

Prefixed ID : #218330;

Details

Origin ID

218330;

UMLS CUI

C0432235;

Currated CISMeF NLP mapping
- Cranioectodermal dysplasia [ICD-11 More detail]
- cranioectodermal dysplasia 1 [DO Concept]
DO Cross reference
- cranioectodermal dysplasia [DO Concept]
Genes related to phenotype
- Intraflagellar transport 122 [OMIM gene]
HPO term(s)
- Abnormality of the abdominal wall [HPO term]
- Anodontia [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Brachydactyly [HPO term]
- Broad distal phalanges of all fingers [HPO term]
- Broad toe [HPO term]
- Chronic kidney disease [HPO term]
- Clinodactyly [HPO term]
- Dolichocephaly [HPO term]
- Ectodermal dysplasia [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Fibular hypoplasia [HPO term]
- Fine hair [HPO term]
- Flattened epiphysis [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Hepatic cysts [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypocalcemia [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypotelorism [HPO term]
- Joint laxity [HPO term]
- Malformation of the hepatic ductal plate [HPO term]
- Microdontia [HPO term]
- Myopia [HPO term]
- Narrow chest [HPO term]
- Nystagmus [HPO term]
- Osteoporosis [HPO term]
- Pectus excavatum [HPO term]
- Progressive renal insufficiency [HPO term]
- Protuberant abdomen [HPO term]
- Radial deviation of finger [HPO term]
- Renal magnesium wasting [HPO term]
- Retinal dystrophy [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Sagittal craniosynostosis [HPO term]
- Scaphocephaly [HPO term]
- Short distal phalanx of finger [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short nail [HPO term]
- Short ribs [HPO term]
- Short toe [HPO term]
- Short, broad distal phalanges [HPO term]
- Single transverse palmar crease [HPO term]
- Slow-growing hair [HPO term]
- Sparse hair [HPO term]
- Telecanthus [HPO term]
- Thin nail [HPO term]
- Triphalangeal hallux [HPO term]
- Tubulointerstitial nephritis [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]
UMLS correspondences (same concept)
- Cranioectodermal dysplasia [ORDO Disease]
- cranioectodermal dysplasia [MeSH Supplementary Concept]
- cranioectodermal dysplasia [MeSH concept]
Validated automatic mappings to NTBT
- Cranioectodermal Dysplasia [NCIt concept]
- Cranioectodermal dysplasia [ICD-11 More detail]
- Cranioectodermal dysplasia [ORDO Disease]
- Cranioectodermal dysplasia (disorder) [SNOMED CT concept]
- cranioectodermal dysplasia [MeSH Supplementary Concept]
- cranioectodermal dysplasia [DO Concept]
- cranioectodermal dysplasia [MeSH concept]

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