|
MCID: PSD101
MIFTS: 12
|
Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa
Categories:
Eye diseases, Rare diseases, Skin diseases
|
|
|
|
Aliases & Classifications for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...
MalaCards integrated aliases for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa:
Name: Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa
58
Characteristics:Orphanet epidemiological data:58
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy; Classifications:
ICD10:
33
Orphanet: 58
Rare eye diseases
Rare skin diseases |
|
MalaCards based summary :
Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa, is also known as pxe-like syndrome with retinitis pigmentosa. An important gene associated with Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa is GGCX (Gamma-Glutamyl Carboxylase). Affiliated tissues include skin and eye, and related phenotypes are nyctalopia and rod-cone dystrophy
|
|
|
Symptoms & Phenotypes for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...
Human phenotypes related to Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa:58 31 (show all 11)
|
Drugs & Therapeutics for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...
|
|
MalaCards organs/tissues related to Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa:40
Skin,
Eye
|
|
|
|
Search
GEO
for disease gene expression data for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa.
|
|
|
|