Meckel syndrome, type 4

Preferred Label : Meckel syndrome, type 4;

Symbol : MKS4;

CISMeF acronym : MKS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Meckel-gruber syndrome, type 4;

Included titles and symbols : Meckel-like cerebrorenodigital syndrome;

Description : Meckel syndrome is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and 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 290-kD centrosomal protein gene (CEP290, 610142.0008);

Prefixed ID : #611134;

Details

Origin ID

611134;

UMLS CUI

C1970161;

Automatic exact mappings (from CISMeF team)
- Meckel-Like cerebrorenodigital syndrome [MeSH Supplementary Concept]
- Meckel-Like cerebrorenodigital syndrome [MeSH concept]
- centrosomal protein 290 [ORDO Gene]
- centrosomal protein 290 [HGNC gene]
Broader ORDO disease(s)
- Meckel syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Meckel syndrome 4 [DO Concept]
- meckel syndrome, type 4 [MeSH concept]
- meckel syndrome, type 4 [MeSH Supplementary Concept]
DO Cross reference
- Meckel syndrome 4 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 290-kd [OMIM gene]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Anencephaly [HPO term]
- Atrial septal defect [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]
- Hydrocephalus [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intrauterine growth retardation [HPO term]
- Meningocele [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Molar tooth sign on MRI [HPO term]
- Postaxial hand polydactyly [HPO term]
- Renal cyst [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Meckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meckel syndrome 4 [DO Concept]
- meckel syndrome, type 4 [MeSH Supplementary Concept]
- meckel syndrome, type 4 [MeSH concept]
Validated automatic mappings to BTNT
- Meckel syndrome [ORDO Disease]

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