MeSH Browser

MeSH Supplementary: Meckel syndrome type 1
Unique ID: C536133
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536133
Entry Term(s): Dysencephalia Splanchnocystica; Dysencephalia splachnocystica; Gruber syndrome; Meckel Gruber syndrome; Meckel Syndrome; Meckel Syndrome, Type 1; Meckel syndrome type1; Meckel-Gruber Syndrome; Meckel-Gruber Syndrome, Type 1
Registry Number: 0
Heading Mapped to: *Ciliary Motility Disorders; *Encephalocele; *Polycystic Kidney Diseases; *Retinitis Pigmentosa
Frequency: 94
Note: A severe hereditary disorder with autosomal recessive inheritance. There is considerable variability (GENETIC PLEIOTROPY) in the range of anomalies observed in affected individuals caused by dysfunction of primary CILIA during early EMBRYOGENESIS. These include a combination of renal CYSTS, encephalocele, HEPATIC DUCT dysplasia and cysts, and POLYDACTYLY. Mutations in the MKS1 gene have been identified. OMIM: 249000
Date of Entry: 2010/08/25
Revision Date: 2018/09/24

Concept UI: M0530594
Registry Number: 0
Terms: Meckel syndrome type 1 Preferred Term
Term UI T757054
Date09/01/2009
LexicalTag NON
ThesaurusID ORD (2010); Meckel Gruber syndrome
Term UI T738345
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Gruber syndrome
Term UI T738346
Date02/24/2009
LexicalTag NON
ThesaurusID; Meckel Syndrome
Term UI T800814
Date11/15/2011
LexicalTag NON
ThesaurusID; Meckel Syndrome, Type 1
Term UI T800808
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Meckel-Gruber Syndrome
Term UI T800810
Date11/15/2011
LexicalTag NON
ThesaurusID; Meckel-Gruber Syndrome, Type 1
Term UI T800811
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Dysencephalia Splanchnocystica
Term UI T800812
Date11/15/2011
LexicalTag NON
ThesaurusID; Meckel syndrome type1
Term UI T738344
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Dysencephalia splachnocystica
Term UI T738347
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010)

Meckel syndrome type 1 MeSH Supplementary Concept Data 2023