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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Hypotrichosis with juvenile macular degeneration

CACNG2 CDH3
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.86)
CDH3



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Hypotrichosis with juvenile macular degeneration
CDH3



Autosomal dominant nonsyndromic intellectual deficit
Hypotrichosis with juvenile macular degeneration

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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: normal
Type of inheritance: autosomal recessive

External references:
13 OMIM references -
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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)