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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Charcot-Marie-Tooth disease type 4A
Beta-thalassemia intermedia

GDAP1 HBB


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 4A
GDAP1
Beta-thalassemia intermedia
HBB



Charcot-Marie-Tooth disease type 4A
Beta-thalassemia intermedia

Synonym(s):
- CMT4A

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare renal 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: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535419
External references:
1 OMIM reference -
No MeSH references

Beta-thalassemia intermedia

Very frequent
- Anaemia
- Anomalies of bones / skeletal anomalies
- Hemoglobinosis / hemoglobinopathy
- Microcytic anemia
- Splenomegaly

Frequent
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperferritinemia / iron overload

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Pulmonary hypertension
- Venous thrombosis / phlebitis / thrombophlebitis


Charcot-Marie-Tooth disease type 4A

(no data available)