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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Charcot-Marie-Tooth disease type 4D
17q11 microdeletion syndrome

NDRG1 NF1
RNF135
SUZ12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NDRG1
(0.63)
SUZ12



Citations in the biomedical literature:


Charcot-Marie-Tooth disease type 4D
NDRG1
17q11 microdeletion syndrome
NF1 RNF135 SUZ12



Charcot-Marie-Tooth disease type 4D
17q11 microdeletion syndrome

Synonym(s):
- CMT4D
- HMSN, Lom type
- Hereditary motor and sensory neuropathy, Lom type

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

External references:
1 OMIM reference -
1 MeSH reference: C535716
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.