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Pelizaeus-Merzbacher-like due to HSPD1 mutation

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Oculodentodigital dysplasia

2 OMIM references -
1 associated gene
86 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Oculodentodigital dysplasia

HSPD1

(UniProt - OMIM)

GJA1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.63)	GJA1

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Oculodentodigital dysplasia
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): - Meyer-Schwickerath syndrome - ODDD syndrome - Oculodentoosseous dysplasia

	Classification (Orphanet): - Rare genetic disease - Rare neurologic 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): - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Oculodentodigital dysplasia
	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 - Cataract / lens opacification - 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 - Glaucoma - 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 - Myopia - 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 - Autosomal recessive inheritance - 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 - Nystagmus - Palmoplantar hyperkeratosis / keratoderma - Preaxial polydactyly (hand) - Short big toe - Short hand / brachydactyly - Strabismus / squint - Taurodontia - Umbilical hernia - Upper limb polydactyly / hexadactyly - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Ventricular septal defect / interventricular communication
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)