Autoimmune lymphoproliferative syndrome, type III

Preferred Label : Autoimmune lymphoproliferative syndrome, type III;

Symbol : ALPS3;

CISMeF acronym : ALPS3; CVID9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency, common variable, 9; CVID9;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein kinase C, delta gene (PRKCD, 176977.0001);

Prefixed ID : #615559;

Details

Origin ID

615559;

UMLS CUI

C3809928;

Automatic exact mappings (from CISMeF team)
- Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation [NCIt concept]
- PRKCD wt Allele [NCIt concept]
- autoimmune lymphoproliferative syndrome type 3 [DO Concept]
DO Cross reference
- autoimmune lymphoproliferative syndrome type 3 [DO Concept]
Genes related to phenotype
- Protein kinase C, delta [OMIM gene]
HPO term(s)
- Absent isohemagglutinin level [HPO term]
- Alopecia [HPO term]
- Anticardiolipin IgG antibody positivity [HPO term]
- Antinuclear antibody positivity [HPO term]
- Arthritis [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Decreased proportion of memory B cells [HPO term]
- Decreased serum complement C3 [HPO term]
- Decreased serum complement C4 [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Erythematous macule [HPO term]
- Follicular hyperplasia [HPO term]
- Generalized lymphadenopathy [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Increased B cell count [HPO term]
- Increased circulating antibody level [HPO term]
- Increased proportion autoreactive unresponsive CD21-/low B cells [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoproliferative disorder [HPO term]
- Mediastinal lymphadenopathy [HPO term]
- Membranous nephropathy [HPO term]
- Nephrotic syndrome [HPO term]
- Obstruction of the superior vena cava [HPO term]
- Persistent EBV viremia [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Reduced natural killer cell activity [HPO term]
- Splenomegaly [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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