Hyper-igd syndrome

Preferred Label : Hyper-igd syndrome;

Symbol : HIDS;

CISMeF acronym : HIDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperimmunoglobulinemia D and periodic fever syndrome; Periodic fever, dutch type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mevalonate kinase gene (MVK, 251170.0002);

Laboratory abnormalities : Mildly elevated urinary mevalonic acid; Elevated erythrocyte sedimentation rate (mean 90mm/h);

Prefixed ID : #260920;

Détails

Origin ID

260920;

UMLS CUI

C0398691;

Automatic exact mappings (from CISMeF team)
- Mevalonate Kinase Deficiency [NCIt concept]
- mevalonate kinase deficiency [MeSH Descriptor]
CISMeF manual mappings
- hyperimmunoglobulinemia D with recurrent fever [Disease (Nov.)]
Currated CISMeF NLP mapping
- Hyper IgD syndrome [MedDRA Preferred Term]
- Hyperimmunoglobulin D with periodic fever (finding) [SNOMED CT concept]
- Hyperimmunoglobulinemia D with periodic fever [ORDO Disease]
- Mevalonate kinase deficiency with recurrent fever [ICD-11 More detail]
- hyperimmunoglobulinemia D syndrome [Disease (Nov.)]
Genes related to phenotype
- Mevalonate kinase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chills [HPO term]
- Chronic diarrhea [HPO term]
- Chronic oral candidiasis [HPO term]
- Diarrhea [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Elevated urine mevalonic acid [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Headache [HPO term]
- Hepatosplenomegaly [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgD level [HPO term]
- Infantile onset [HPO term]
- Leukocytosis [HPO term]
- Lymphadenitis [HPO term]
- Lymphadenopathy [HPO term]
- Molluscum contagiosum [HPO term]
- Myalgia [HPO term]
- Neutrophilia [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Oral ulcer [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Renal angiomyolipoma [HPO term]
- Rod-cone dystrophy [HPO term]
- Serositis [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- Vertigo [HPO term]
- Vomiting [HPO term]
- macules [HPO term]
ORDO concept(s)
- Hyperimmunoglobulinemia D with periodic fever [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper IgD syndrome [MedDRA Preferred Term]
- Hyper IgD with periodic fever syndrome [MedDRA LLT]
- Hyperimmunoglobulin D with periodic fever (finding) [SNOMED CT concept]
- Hyperimmunoglobulinemia D with periodic fever [ORDO Disease]
- Hyperimmunoglobulinemia D with periodic fever (disorder) [SNOMED CT concept]
- Mevalonate kinase deficiency with recurrent fever [ICD-11 More detail]
- hyperimmunoglobulinemia D [MeSH concept]
- hyperimmunoglobulinemia D syndrome [Disease (Nov.)]
- hyperimmunoglobulinemia D with recurrent fever [Disease (Nov.)]
Validated automatic mappings to NTBT
- hyperimmunoglobulinemia D [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients