Meckel syndrome, type 7

Preferred Label : Meckel syndrome, type 7;

Symbol : MKS7;

CISMeF acronym : MKS7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Goldston syndrome; Renal-hepatic-pancreatic dysplasia with dandy-walker cyst;

Description : This autosomal recessive disorder is designated Meckel syndrome type 7 based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature. Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS. 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 nephrocystin 3 gene (NPHP3, 608002.0004);

Prefixed ID : #267010;

Details

Origin ID

267010;

UMLS CUI

C2673885;

Automatic exact mappings (from CISMeF team)
- nephrocystin 3 [ORDO Gene]
- nephrocystin 3 [HGNC gene]
Currated CISMeF NLP mapping
- Meckel syndrome 7 [DO Concept]
- NPHP3-related Meckel-like syndrome [ORDO Disease]
- Nephrocystin 3-related Meckel-like syndrome (disorder) [SNOMED CT concept]
- Renal hepatic pancreatic dysplasia Dandy Walker cyst [MeSH concept]
- renal hepatic pancreatic dysplasia dandy walker cyst [MeSH Supplementary Concept]
DO Cross reference
- Meckel syndrome 7 [DO Concept]
Genes related to phenotype
- Nephrocystin 3 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Biliary cirrhosis [HPO term]
- Cholestasis [HPO term]
- Choroid plexus cyst [HPO term]
- Dandy-Walker malformation [HPO term]
- Hepatosplenomegaly [HPO term]
- High forehead [HPO term]
- Hypertonia [HPO term]
- Inguinal hernia [HPO term]
- Large fontanelles [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Multiple glomerular cysts [HPO term]
- Oligohydramnios [HPO term]
- Pancreatic cysts [HPO term]
- Patent ductus arteriosus [HPO term]
- Portal hypertension [HPO term]
- Postaxial foot polydactyly [HPO term]
- Right ventricular hypertrophy [HPO term]
- Situs inversus totalis [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Meckel syndrome [ORDO Disease]
- NPHP3-related Meckel-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meckel syndrome 7 [DO Concept]
- NPHP3-related Meckel-like syndrome [ORDO Disease]
- Nephrocystin 3-related Meckel-like syndrome (disorder) [SNOMED CT concept]
- Renal hepatic pancreatic dysplasia Dandy Walker cyst [MeSH concept]
- renal hepatic pancreatic dysplasia dandy walker cyst [MeSH Supplementary Concept]

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