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Recurrent infections associated with rare immunoglobulin isotypes deficiency
1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Muir-Torre syndrome
1 OMIM reference -
3 associated genes
14 signs/symptoms
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Muir-Torre syndrome

IGHG2
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
IGKC
(UniProt - OMIM)
 MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IGKC
(0.63)
MLH1


Citations in the biomedical literature:


Recurrent infections associated with rare immunoglobulin isotypes deficiency
IGHG2 IGKC
Muir-Torre syndrome
MLH1 MSH2 MSH6



Recurrent infections associated with rare immunoglobulin isotypes deficiency
Muir-Torre syndrome

Synonym(s):
- IgG subclass deficiency with IgA subclass deficiency
- Isolated IgG subclass deficiency
- Kappa-chain deficiency
- Selective IgG subclass deficiency
Synonym(s):
- Multiple keratoacanthoma, Muir-Torre type
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D055653
Muir-Torre syndrome

Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

Frequent
- Colon neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Hematologic / blood / lymphatic cancer
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer


Recurrent infections associated with rare immunoglobulin isotypes deficiency

(no data available)