ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Retinopathy - anemia- central nervous system anomalies

Glycogen storage disease due to phosphoglucomutase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TINF2	(0.63)	PGM1

Citations in the biomedical literature:

Retinopathy - anemia- central nervous system anomalies		Glycogen storage disease due to phosphoglucomutase deficiency
	Synonym(s): - Revesz-DeBuse syndrome		Synonym(s): - GSD due to phosphoglucomutase deficiency - GSD type 14 - GSDXIV - Glycogen storage disease type 14 - Glycogenosis due to phosphoglucomutase deficiency - Glycogenosis type 14 - Phosphoglucomutase 1 deficiency

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: autosomal recessive

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

Retinopathy - anemia- central nervous system anomalies
	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
Glycogen storage disease due to phosphoglucomutase deficiency
(no data available)