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Isolated 3-methylcrotonyl-CoA carboxylase deficiency
2 OMIM references -
2 associated genes
17 connected diseases
10 signs/symptoms
Disease Type of connection
Combined immunodeficiency due to STK4 deficiency
Spinocerebellar ataxia type 12
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Cabezas syndrome
Dedifferentiated liposarcoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Pseudohypoaldosteronism type 2E
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Amyotrophic lateral sclerosis
Autosomal dominant spastic paraplegia type 13
Distal hereditary motor neuropathy type 7
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Perry syndrome
- 3-methylcrotonylglycinuria
- MCC deficiency

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: C535308

Gene symbol UniProt reference OMIM reference
MCCC1 Q96RQ3609010
MCCC2 Q9HCC0609014
Very frequent
- Hypoglycemia
- Hypotonia
- Metabolic anomalies
- Organic acid metabolism anomalies

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

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