| Symbol
| HJMD
|
| Location
| 16q22.1
|
| Name
|
hypotrichosis congenital with juvenile macular dystrophy |
| Other name(s)
|
juvenile macular dystrophy and congenital hypotrichosis |
| Corresponding gene
|
CDH3
|
| Main clinical features
|
sparse and short scalp hair from birth, followed within a few years by progressive macular degeneration leading to blindness |
|
| homozygous missense mutation resulting in a single amino acid substitution at position 503 of P-cadherin sequence (R503H)
|
| Genetic determination
| autosomal recessive |
| Function/system disorder
| eye |
|
| dermatology |
| Type
| disease
|
| Name
| cadherin 3 (P- cadherin)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| nonsense
|
| truncated protein
| mutation (Y615X) predicted to result in premature termination of P-cadherin translation
| |