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Hypotrichosis with juvenile macular degeneration
1 OMIM reference -
1 associated gene
19 connected diseases
16 signs/symptoms
Disease Type of connection
EEM syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Congenital nephrotic syndrome, Finnish type
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial gastric cancer
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Gastric linitis plastica
Lethal acantholytic epidermolysis bullosa
Naxos disease
Growth delay due to insulin-like growth factor I resistance
Uveal coloboma - cleft lip and palate - intellectual deficit
Synonym(s):
- HJMD
- Hypotrichosis with juvenile macular dystrophy

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

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

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

Gene symbol UniProt reference OMIM reference
CDH3 P22223114021
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