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2 OMIM references -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
6 signs/symptoms
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Hereditary persistence of fetal hemoglobin - beta-thalassemia

GDAP1 BCL11A
HBB
HBG1
HBG2
KLF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GDAP1
(0.49)
HBB



Citations in the biomedical literature:


Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
GDAP1
Hereditary persistence of fetal hemoglobin - beta-thalassemia
BCL11A HBB HBG1 HBG2 KLF1



Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Hereditary persistence of fetal hemoglobin - beta-thalassemia

Synonym(s):
- ARCMT2K
- Autosomal recessive axonal CMT4C4
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K

Synonym(s):
- HPFH - beta-thalassemia

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
5 OMIM references -
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)



Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

(no data available)