Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
27 signs/symptoms
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Opsismodysplasia

MCCC1 INPPL1
MCCC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MCCC2
(0.72)
INPPL1



Citations in the biomedical literature:


Isolated 3-methylcrotonyl-CoA carboxylase deficiency
MCCC1 MCCC2
Opsismodysplasia
INPPL1



Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Opsismodysplasia

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: C535308
External references:
1 OMIM reference -
1 MeSH reference: C537122


COMMON
SIGNS
- Hypotonia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Opsismodysplasia

Very frequent
- Hypoglycemia
- 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


Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Delayed bone age
- Depressed nasal bridge
- Epiphyseal anomaly
- Frontal bossing / prominent forehead
- Lack / delayed ossification of spine / vertebrae
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Tapered fingers

Frequent
- Brachycephaly / flat occiput
- Repeat respiratory infections

Occasional
- Blue sclerae
- Broad / bifid thumb
- Hepatomegaly / liver enlargement (excluding storage disease)
- Narrow rib cage / thorax
- Pectus excavatum
- Restricted joint mobility / joint stiffness / ankylosis
- Splenomegaly