Details of Disease

General Information of Disease (ID: DISJIYCP)

Disease Name Meckel syndrome, type 3
Synonyms Meckel syndrome 3; Meckel syndrome type 3; TMEM67 Meckel syndrome; Meckel syndrome, type 3; Meckel syndrome caused by mutation in TMEM67; Meckel-Gruber syndrome, type 3; MKS3
Definition Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
Disease Hierarchy
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISXPHOY: Meckel syndrome
DISJIYCP: Meckel syndrome, type 3
Disease Identifiers
MONDO ID
MONDO_0011821
MESH ID
C536132
UMLS CUI
C1846357
OMIM ID
607361
MedGen ID
335402

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MKS1 OT83W5PB Strong Biomarker [1]
TMEM67 OTME92T5 Definitive Autosomal recessive [2]
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References

1 Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.Hum Mol Genet. 2009 Sep 1;18(17):3311-23. doi: 10.1093/hmg/ddp272. Epub 2009 Jun 10.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.