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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Autosomal dominant nonsyndromic intellectual deficit
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

CACNG2 ISG15
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
DYRK1A
(0.63)
(0.63)
ISG15
ISG15



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Autosomal dominant nonsyndromic intellectual deficit
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to complete ISG15 deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
13 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.