HJMD
MCID: HYP332
MIFTS: 42
|
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy (HJMD)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
|
|
|
MalaCards integrated aliases for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:
Characteristics:Inheritance:
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:
Autosomal recessive 57
Hypotrichosis with Juvenile Macular Degeneration:
Autosomal recessive 58
Prevelance:
Hypotrichosis with Juvenile Macular Degeneration:
<1/1000000 (Worldwide) 58
Age Of Onset:
Hypotrichosis with Juvenile Macular Degeneration:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Skin diseases
ICD10:
32
Orphanet: 58
![]() ![]() ![]() |
GARD: 19 Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. MalaCards based summary: Hypotrichosis, Congenital, with Juvenile Macular Dystrophy, also known as hjmd, is related to darier-white disease and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome. An important gene associated with Hypotrichosis, Congenital, with Juvenile Macular Dystrophy is CDH3 (Cadherin 3), and among its related pathways/superpathways are Canonical Wnt Pathway and Cell adhesion_Cadherin-mediated cell adhesion. Affiliated tissues include skin, eye and bone, and related phenotypes are short stature and blindness Orphanet: 58 Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. UniProtKB/Swiss-Prot: 73 A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life. Disease Ontology: 11 A hypotrichosis that has material basis in a autosomal recessive mutation of CDH3 on chromosome 16q22.1. Wikipedia: 75 Hypotrichosis with juvenile macular dystrophy (HJMD or CDH3) is an extremely rare congenital disease... more...
More information from OMIM:
601553
|
Human phenotypes related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:58 30 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:601553 (Updated 08-Dec-2022) |
|
Organs/tissues related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:
MalaCards :
Skin,
Eye,
Bone
|
Articles related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:(show all 44)
|
ClinVar genetic disease variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:5 (show all 19)
UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:73
|
Search
GEO
for disease gene expression data for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy.
|
Cellular components related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy according to GeneCards Suite gene sharing:
Biological processes related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy according to GeneCards Suite gene sharing:
|
|