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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
25 associated genes
1 sign/symptom
Isolated plagiocephaly
Isolated NADH-CoQ reductase deficiency

FGFR3 ACAD9
TCF12 FOXRED1
MT-ND2
MTFMT
NDUFA1
NDUFA11
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NUBPL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR3
(0.63)
NDUFS6



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Isolated NADH-CoQ reductase deficiency
ACAD9 FOXRED1 MT-ND2 MTFMT NDUFA1 NDUFA11
NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4
NDUFAF5 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3
NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2
NUBPL



Isolated plagiocephaly
Isolated NADH-CoQ reductase deficiency

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

Synonym(s):
- Isolated NADH-coenzyme Q reductase deficiency
- Isolated NADH-ubiquinone reductase deficiency
- Isolated mitochondrial respiratory chain complex I deficiency

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Isolated plagiocephaly
Isolated NADH-CoQ reductase deficiency

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Very frequent
- Organic acid metabolism anomalies