Details of Disease

General Information of Disease (ID: DIS8VOO2)

Disease Name Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Synonyms SCN5; neutropenia, severe congenital, 5, autosomal recessive; vps45 deficiency; congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
Disease Hierarchy
DISES99N: Severe congenital neutropenia
DIS664S0: Autosomal recessive severe congenital neutropenia
DIS8VOO2: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Disease Identifiers
MONDO ID
MONDO_0014118
UMLS CUI
C3809031
OMIM ID
615285
MedGen ID
815361
Orphanet ID
369852

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
VPS45 OTOIDCD2 Strong Autosomal recessive [1]
RBSN OTAIAS93 Supportive Autosomal recessive [2]
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References

1 The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood. 2013 Jun 20;121(25):5078-87. doi: 10.1182/blood-2012-12-475566. Epub 2013 Apr 18.
2 Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21.