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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
19 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
Postaxial acrofacial dysostosis

BCS1L DHODH
CYC1
LYRM7
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYC1
(0.49)
DHODH



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Postaxial acrofacial dysostosis
DHODH



Isolated CoQ-cytochrome C reductase deficiency
Postaxial acrofacial dysostosis

Synonym(s):
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency

Synonym(s):
- Acrofacial dysostosis, Genee-Wiedmann type
- Mandibulfacial dysostosis with postaxial limb anomalies
- Miller syndrome
- POADS
- Postaxial acrodysostosis

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
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:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Postaxial acrofacial dysostosis

Very frequent
- Abnormal dermatoglyphics
- Autosomal recessive inheritance
- Coloboma of the eyelid
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Ectropion / entropion / eyelid eversion
- Flat cheek bones / malar hypoplasia
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Supernumerary nipples / polythelia
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Frequent
- Camptodactyly of some fingers
- Cleft lip and palate
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Syndactyly of fingers / interdigital palm

Occasional
- Strabismus / squint


Isolated CoQ-cytochrome C reductase deficiency

(no data available)