ODCs

Click node...

5 OMIM references -
5 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Hereditary persistence of fetal hemoglobin - beta-thalassemia

Goldmann-Favre syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BCL11A	(0.75)	NR2E3

Citations in the biomedical literature:

Hereditary persistence of fetal hemoglobin - beta-thalassemia		Goldmann-Favre syndrome
	Synonym(s): - HPFH - beta-thalassemia		Synonym(s): - Enhanced S-cone syndrome - Retinoschisis with early nyctalopia

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal recessive

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Hereditary persistence of fetal hemoglobin - beta-thalassemia
	Very frequent - Anaemia - Hemoglobinosis / hemoglobinopathy - Pallor - Splenomegaly Frequent - Anomalies of bones / skeletal anomalies - Hepatomegaly / liver enlargement (excluding storage disease)
Goldmann-Favre syndrome
(no data available)