ODCs

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Retinopathy - anemia- central nervous system anomalies

1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

Developmental malformations - deafness - dystonia

1 OMIM reference -
1 associated gene
22 signs/symptoms

Retinopathy - anemia- central nervous system anomalies

Developmental malformations - deafness - dystonia

TINF2

(UniProt - OMIM)

ACTB

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TINF2	(0.63)	ACTB

Citations in the biomedical literature:

Retinopathy - anemia- central nervous system anomalies		Developmental malformations - deafness - dystonia
	Synonym(s): - Revesz-DeBuse syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown

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

Retinopathy - anemia- central nervous system anomalies		Developmental malformations - deafness - dystonia
	Very frequent - Anaemia - Anomalies of tongue, gingiva and oral mucosa - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Fine hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intrauterine growth retardation - Microcephaly - Nails anomalies - Platelets shape anomalies - Polynuclear cells / neutrophils anomalies / neutropenia - Prematurity - Purpura / petichiae - Retinal detachment - Retinal vascular anomalies / retinal telangiectasia - Thrombocytopenia / thrombopenia		Very frequent - Autosomal dominant inheritance - Cleft lip and palate - Dystonia / torticollis / writer's cramp / blepharospasms - Early death in adulthood - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional colopathy / irritable bowel syndrome - High forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Macroglossia / tongue protrusion / proeminent / hypertrophic - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Psychic / psychomotor regression / dementia / intellectual decline - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Sensorineural deafness / hearing loss - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Cataract / lens opacification - Visual loss / blindness / amblyopia