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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
3 signs/symptoms
Charcot-Marie-Tooth disease type 2H
Delta-beta-thalassemia

GDAP1 HBB
HBD
HBG1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Charcot-Marie-Tooth disease type 2H
GDAP1
Delta-beta-thalassemia
HBB HBD HBG1



Charcot-Marie-Tooth disease type 2H
Delta-beta-thalassemia

Synonym(s):
- AR-CMT2C
- Autosomal recessive axonal CMT4C2
- Axonal Charcot-Marie-Tooth disease with pyramidal involvement

Synonym(s):
(no synonyms)

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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535415
External references:
1 OMIM reference -
No MeSH references

Delta-beta-thalassemia

Very frequent
- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Microcytic anemia



Charcot-Marie-Tooth disease type 2H

(no data available)