Details of Disease

General Information of Disease (ID: DISZC7BV)

Disease Name Autosomal dominant severe congenital neutropenia
Synonyms severe congenital neutropenia autosomal dominant; severe congenital neutropenia, autosomal dominant
Definition Autosomal dominant form of severe congenital neutropenia.
Disease Hierarchy
DISES99N: Severe congenital neutropenia
DIS3HIWD: Autosomal dominant disease
DISZC7BV: Autosomal dominant severe congenital neutropenia
Disease Identifiers
MONDO ID
MONDO_0008742
UMLS CUI
C4749612
MedGen ID
1665322
Orphanet ID
486
SNOMED CT ID
770947009

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
ELANE TTPLTSQ Supportive Autosomal dominant [1]
TCIRG1 TTVRN05 Supportive Autosomal dominant [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ELANE OTCOHLXR Supportive Autosomal dominant [1]
GFI1 OT9HB9H8 Supportive Autosomal dominant [3]
SRP54 OT9SGF3X Supportive Autosomal dominant [4]
TCIRG1 OTU1AIEW Supportive Autosomal dominant [2]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2 TCIRG1-associated congenital neutropenia. Hum Mutat. 2014 Jul;35(7):824-7. doi: 10.1002/humu.22563. Epub 2014 May 21.
3 Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet. 2003 Jul;34(3):308-12. doi: 10.1038/ng1170.
4 Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18.