Meckel syndrome, type 8

Preferred Label : Meckel syndrome, type 8;

Symbol : MKS8;

CISMeF acronym : MKS8;

Type : Phenotype, molecular basis known;

Description : Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tectonic family, member 2 gene (TCTN2, 613846.0001);

Prefixed ID : #613885;

Details

Origin ID

613885;

UMLS CUI

C3836857;

Automatic exact mappings (from CISMeF team)
- tectonic family member 2 [HGNC gene]
- tectonic family member 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Meckel syndrome 8 [DO Concept]
DO Cross reference
- Meckel syndrome 8 [DO Concept]
Genes related to phenotype
- Tectonic family, member 2 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Anophthalmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Depressed nasal ridge [HPO term]
- Encephalocele [HPO term]
- Hyperechogenic kidneys [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Meckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meckel syndrome 8 [DO Concept]
Validated automatic mappings to BTNT
- Meckel syndrome [ORDO Disease]

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