Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome

Preferred Label : Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome;

Symbol : VAIHS;

CISMeF acronym : PAN; DADA2; VAIHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PAN; DADA2; Polyarteritis nodosa, childhood-onset; Adenosine deaminase 2 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cat eye syndrome chromosome region, candidate 1 gene (CECR1, 607575.0001);

Laboratory abnormalities : Acute-phase reactants during fever; Abnormal liver enzymes;

Prefixed ID : #615688;

Details

Origin ID

615688;

UMLS CUI

C3887654;

Automatic exact mappings (from CISMeF team)
- ADA2 wt Allele [NCIt concept]
- Adenosine Deaminase 2 Deficiency [NCIt concept]
- Genus Pan (organism) [SNOMED CT concept]
- Panama [NCIt concept]
- Polyarteritis Nodosa [NCIt concept]
- Polyarteritis nodosa [ORDO Disease]
- Polyarteritis nodosa [ICD-11 Subcategory]
- Public Affairs Network of Cancer Centers [NCIt concept]
- Punjabi Language [NCIt concept]
- Vasculitis due to ADA2 deficiency [ORDO Disease]
- pan, nos [SNOMED Notion]
- polyarteritis nodosa [MeSH Descriptor]
- proteasome-activating nucleotidase complex [GO term]
Genes related to phenotype
- Adenosine deaminase 2 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Agitation [HPO term]
- Anemia [HPO term]
- Aphasia [HPO term]
- Aphthous ulcer [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Childhood onset [HPO term]
- Cutis marmorata [HPO term]
- Decreased circulating antibody level [HPO term]
- Dilated cardiomyopathy [HPO term]
- Eczema [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Elevated hepatic transaminase [HPO term]
- Erythema nodosum [HPO term]
- Esophageal varix [HPO term]
- Feeding difficulties [HPO term]
- Fever [HPO term]
- Hashimoto thyroiditis [HPO term]
- Headache [HPO term]
- Hemiplegia [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypertension [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Leukocytosis [HPO term]
- Leukopenia [HPO term]
- Livedo racemosa [HPO term]
- Lupus anticoagulant [HPO term]
- Lymphadenopathy [HPO term]
- Lymphopenia [HPO term]
- Lymphoproliferative disorder [HPO term]
- Myalgia [HPO term]
- Neonatal onset [HPO term]
- Ophthalmoplegia [HPO term]
- Optic atrophy [HPO term]
- Oral ulcer [HPO term]
- Pancytopenia [HPO term]
- Panniculitis [HPO term]
- Peripheral neuropathy [HPO term]
- Portal hypertension [HPO term]
- Purpura [HPO term]
- Raynaud phenomenon [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent sinusitis [HPO term]
- Renal artery aneurysm [HPO term]
- Skin rash [HPO term]
- Skin ulcer [HPO term]
- Splenomegaly [HPO term]
- Stiff skin [HPO term]
- Stroke [HPO term]
- Thrombocytosis [HPO term]
- Type I diabetes mellitus [HPO term]
- Urticarial plaque [HPO term]
- Vasculitis [HPO term]
ORDO concept(s)
- Vasculitis due to ADA2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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