ODCs

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Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

2 OMIM references -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Oculodentodigital dysplasia

2 OMIM references -
1 associated gene
86 signs/symptoms

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Oculodentodigital dysplasia

AGK	(UniProt - OMIM)		GJA1	(UniProt - OMIM)
SLC25A4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC25A4	(0.63)	GJA1

Citations in the biomedical literature:

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy		Oculodentodigital dysplasia
	Synonym(s): - Sengers syndrome		Synonym(s): - Meyer-Schwickerath syndrome - ODDD syndrome - Oculodentoosseous dysplasia

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 2 OMIM references - 1 MeSH reference: C538280		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Cataract / lens opacification - Glaucoma - Myopia - Nystagmus - Strabismus / squint

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy		Oculodentodigital dysplasia
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Cardiomyopathy / hypertrophic / dilated - Myopathy - Organic acid metabolism anomalies Frequent - Stillbirth / neonatal death Occasional - Abnormal ERG / electroretinogram / electroretinography - Corneal dystrophy		Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of nose and olfaction - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Anteverted nares / nostrils - Autosomal dominant inheritance - Camptodactyly of some fingers - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Enamel anomaly - Microcornea - Multiple caries - Narrow nasal bridge - Premature lost of decidious teeth - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thick columella - Thin / hypoplastic ala nasi Frequent - Abnormal fingernails - Abnormal gait - Abnormal hair texture / hair dysplasia - Anomalies of eyes and vision - Ataxia / incoordination / trouble of the equilibrium - Bladder and ureter anomalies - Broad alveolar ridge - Camptodactyly of fingers - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Conductive deafness / hearing loss - Cortical anomaly / thick bone cortical layer - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elocution disorders / dysarthria / dysphonia - Enlargment of jaw / large jaw - External ear anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - High forehead - Hypereflexia - Hypermetropia - Hyperostosis - Hypertelorism - Hypertonia / spasticity / rigidity / stiffness - Hypotelorism - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications - Median cleft lip - Metaphyseal anomaly - Muscle weakness / flaccidity - Nails anomalies - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Prognathism / prognathia - Seizures / epilepsy / absences / spasms / status epilepticus - Short / small nose - slow growth of the hair - Small / triangular nares / nostrils - Visual loss / blindness / amblyopia Occasional - Abnormal vertebral size / shape - Aniridia / iris hypoplasia - Blepharophimosis / short palpebral fissures - Brittle hair / distrix / trichorrhexis - Cardiac rhythm disorder / arrhythmia - Clavicle absent / abnormal - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Diaphyseal anomaly - Epicanthic folds - Fine hair - Hearing loss / hypoacusia / deafness - Hypoglycemia - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Madelung's deformity - Micrognathia / retrognathia / micrognathism / retrognathism - Palmoplantar hyperkeratosis / keratoderma - Preaxial polydactyly (hand) - Short big toe - Short hand / brachydactyly - Taurodontia - Umbilical hernia - Upper limb polydactyly / hexadactyly - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Ventricular septal defect / interventricular communication