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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
10 signs/symptoms
Congenital muscular dystrophy with cerebellar involvement
Lethal acantholytic epidermolysis bullosa

FKRP DSP
GMPPB JUP
POMGNT1
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GMPPB
(0.63)
JUP



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Lethal acantholytic epidermolysis bullosa
DSP JUP



Congenital muscular dystrophy with cerebellar involvement
Lethal acantholytic epidermolysis bullosa

Synonym(s):
- CMD with cerebellar involvement
- CMD-CRB

Synonym(s):
- LAEB

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535493

Lethal acantholytic epidermolysis bullosa

Very frequent
- Absent / small fingernails / anonychia of hands
- Alopecia
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis


Congenital muscular dystrophy with cerebellar involvement

(no data available)