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1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
25 associated genes
1 sign/symptom
Crouzon syndrome - acanthosis nigricans
Isolated NADH-CoQ reductase deficiency

FGFR3 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


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Crouzon syndrome - acanthosis nigricans
FGFR3
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



Crouzon syndrome - acanthosis nigricans
Isolated NADH-CoQ reductase deficiency

Synonym(s):
- Crouzono-dermoskeletal syndrome

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
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

Crouzon syndrome - acanthosis nigricans
Isolated NADH-CoQ reductase deficiency

Very frequent
- Acanthosis nigricans
- Autosomal dominant inheritance
- Frontal bossing / prominent forehead
- High forehead

Frequent
- Abnormal vertebral size / shape
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- Cranial hypertension
- Hydrocephaly
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Ptosis
- Short hand / brachydactyly
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Beaked nose
- Facial pain / cephalalgia / migraine
- High vaulted / narrow palate
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly
- Visual loss / blindness / amblyopia


Very frequent
- Organic acid metabolism anomalies