Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	735157
Species:	Rattus norvegicus
RGD Object:	Gene
Symbol:	Atp6v1e1
Name:	ATPase H+ transporting V1 subunit E1

Acc ID:	DOID:9008412
Term:	Polyarteritis Nodosa, Childhood-Onset
Definition:	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some patients present with clinical immunodeficiency. VAIHS is caused by homozygous or compound heterozygous mutation in the ADA2 gene (CECR1) on chromosome 22q11. (OMIM)

Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.

Object Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
Atp6v1e1		ISO	ATP6V1E1 (Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset \| ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME	PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

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