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3 OMIM references -
3 associated genes
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Self-healing collodion baby
Charcot-Marie-Tooth disease type 2B1

ALOX12B LMNA
ALOXE3
TGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALOX12B
(0.67)
LMNA



Citations in the biomedical literature:


Self-healing collodion baby
ALOX12B ALOXE3 TGM1
Charcot-Marie-Tooth disease type 2B1
LMNA



Self-healing collodion baby
Charcot-Marie-Tooth disease type 2B1

Synonym(s):
- SHCB

Synonym(s):
- AR-CMT2B1
- Autosomal recessive Charcot-Marie-Tooth disease type 2B1
- Autosomal recessive axonal CMT4C1

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
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:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537990

Self-healing collodion baby

Very frequent
- Autosomal recessive inheritance
- Ichthyosis / ichthyosiform dermatitis
- Restricted joint mobility / joint stiffness / ankylosis



Charcot-Marie-Tooth disease type 2B1

(no data available)