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

PROTEIN INTERACTIONS: 1

Retinopathy - anemia- central nervous system anomalies

1 OMIM reference -
1 associated gene
15 signs/symptoms

PGM-CDG

Retinopathy - anemia- central nervous system anomalies

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

PGM-CDG		Retinopathy - anemia- central nervous system anomalies
	Synonym(s): - CDGIt		Synonym(s): - Revesz-DeBuse syndrome

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

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	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
PGM-CDG
(no data available)