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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
2 associated genes
10 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Isolated 3-methylcrotonyl-CoA carboxylase deficiency

CACNG2 MCCC1
CDH15 MCCC2
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYNC1H1
DYNC1H1
(0.49)
(0.49)
MCCC1
MCCC2



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
MCCC1 MCCC2



Autosomal dominant nonsyndromic intellectual deficit
Isolated 3-methylcrotonyl-CoA carboxylase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- 3-methylcrotonylglycinuria
- MCC deficiency
- MCCD

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
13 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C535308

Isolated 3-methylcrotonyl-CoA carboxylase deficiency

Very frequent
- Hypoglycemia
- Hypotonia
- Metabolic anomalies
- Organic acid metabolism anomalies

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperammonemia
- Movement disorder

Occasional
- Cerebral vascular anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Autosomal dominant nonsyndromic intellectual deficit

(no data available)