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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
2 associated genes
10 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Lethal acantholytic epidermolysis bullosa

CACNG2 DSP
CDH15 JUP
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
TCF4
CDH15
(0.82)
(0.55)
(0.52)
JUP
JUP
JUP



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Lethal acantholytic epidermolysis bullosa
DSP JUP



Autosomal dominant nonsyndromic intellectual deficit
Lethal acantholytic epidermolysis bullosa

Synonym(s):
(no synonyms)

Synonym(s):
- LAEB

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
13 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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)