Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Familial gastric cancer
Hypotrichosis with juvenile macular degeneration

CDH1 CDH3
MUTYH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDH1
(0.74)
CDH3



Citations in the biomedical literature:


Familial gastric cancer
CDH1 MUTYH
Hypotrichosis with juvenile macular degeneration
CDH3



Familial gastric cancer
Hypotrichosis with juvenile macular degeneration

Synonym(s):
- Familial stomach cancer

Synonym(s):
- HJMD
- Hypotrichosis with juvenile macular dystrophy

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

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

Hypotrichosis with juvenile macular degeneration

Very frequent
- Autosomal recessive inheritance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Macular dystrophy / absence / hypoplasia of the macula
- Macular pigmentary anomaly / cherry-red spot
- Short stature / dwarfism / nanism
- Visual loss / blindness / amblyopia

Frequent
- Brittle hair / distrix / trichorrhexis
- Fine hair
- Pili torti

Occasional
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Excessive freckling
- Global upper and lower limbs anomalies
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nystagmus
- Pigmented naevi / naevus pigmentosus / lentigo
- Severe allergic reaction / atopy


Familial gastric cancer

(no data available)