Details of Disease

General Information of Disease (ID: DIS35W4C)

Disease Name Heterotaxy, visceral, 7, autosomal
Synonyms HTX7; visceral heterotaxy caused by mutation in MMP21; heterotaxy, visceral, 7, autosomal; HTX7; MMP21 visceral heterotaxy; heterotaxy, visceral, 7, autosomal
Definition Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DIS35W4C: Heterotaxy, visceral, 7, autosomal
Disease Identifiers
MONDO ID
MONDO_0014762
UMLS CUI
C4225217
OMIM ID
616749
MedGen ID
902629

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MMP21 TTYRF5E Limited Biomarker [1]
MMP21 TTYRF5E Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MMP21 OTVDCE2H Strong Autosomal recessive [2]
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References

1 A human laterality disorder caused by a homozygous deleterious mutation in MMP21. J Med Genet. 2015 Dec;52(12):840-7. doi: 10.1136/jmedgenet-2015-103336. Epub 2015 Oct 1.
2 Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.