Meckel syndrome, type 2

Preferred Label : Meckel syndrome, type 2;

Symbol : MKS2;

CISMeF acronym : MKS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Meckel-gruber syndrome, type 2;

Description : Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 216 gene (TMEM216, 613277.0002);

Prefixed ID : #603194;

Détails

Origin ID

603194;

UMLS CUI

C1864148;

Automatic exact mappings (from CISMeF team)
- TMEM216 wt Allele [NCIt concept]
- symbol withdrawn MKS2 [HGNC gene]
Broader ORDO disease(s)
- Meckel syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Meckel Gruber syndrome type 2 [Disease (Nov.)]
- Meckel syndrome 2 [DO Concept]
- Meckel syndrome type 2 [MeSH concept]
- meckel syndrome type 2 [MeSH Supplementary Concept]
DO Cross reference
- Meckel syndrome 2 [DO Concept]
Genes related to phenotype
- Transmembrane protein 216 [OMIM gene]
HPO term(s)
- Anencephaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Bowing of the long bones [HPO term]
- Cleft palate [HPO term]
- Dandy-Walker malformation [HPO term]
- Encephalocele [HPO term]
- Intrauterine growth retardation [HPO term]
- Meningocele [HPO term]
- Microphthalmia [HPO term]
- Polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Renal cyst [HPO term]
ORDO concept(s)
- Meckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meckel Gruber syndrome type 2 [Disease (Nov.)]
- Meckel syndrome 2 [DO Concept]
- Meckel syndrome type 2 [MeSH concept]
- meckel syndrome type 2 [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Meckel syndrome [ORDO Disease]

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