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Oxoglutaricaciduria

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Postaxial acrofacial dysostosis

1 OMIM reference -
1 associated gene
19 signs/symptoms

Oxoglutaricaciduria

Postaxial acrofacial dysostosis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OGDH	(0.49)	DHODH

Citations in the biomedical literature:

Oxoglutaricaciduria		Postaxial acrofacial dysostosis
	Synonym(s): - Alpha-ketoglutarate dehydrogenase 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 - Rare neurologic 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): - 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: before age 5 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: 1 OMIM reference - 1 MeSH reference: C536582		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Oxoglutaricaciduria		Postaxial acrofacial dysostosis
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Organic acid metabolism anomalies - Short stature / dwarfism / nanism Frequent - Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct - Hydrocephaly - Movement disorder		Very frequent - Abnormal dermatoglyphics - 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