MCID: PSD101
MIFTS: 14

Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa

Categories: Eye diseases, Skin diseases, Rare 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 59
Pxe-Like Syndrome with Retinitis Pigmentosa 59

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

Orphanet 59 ORPHA436274
ICD10 via Orphanet 34 Q82.8

Summaries for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

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 rod-cone dystrophy and nyctalopia

Related Diseases for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

Symptoms & Phenotypes for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

Human phenotypes related to Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rod-cone dystrophy 59 32 obligate (100%) Obligate (100%) HP:0000510
2 nyctalopia 59 32 obligate (100%) Obligate (100%) HP:0000662
3 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
4 abnormality of the optic nerve 59 32 hallmark (90%) Very frequent (99-80%) HP:0000587
5 redundant skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001582
6 increased number of skin folds 59 32 hallmark (90%) Very frequent (99-80%) HP:0007522
7 attenuation of retinal blood vessels 59 32 hallmark (90%) Very frequent (99-80%) HP:0007843
8 absent retinal pigment epithelium 59 32 hallmark (90%) Very frequent (99-80%) HP:0007980
9 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
10 cutis laxa 59 Obligate (100%)
11 abnormality of the fundus 59 Frequent (79-30%)

Drugs & Therapeutics for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

Search Clinical Trials , NIH Clinical Center for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa

Genetic Tests for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

Anatomical Context for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

MalaCards organs/tissues related to Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa:

41
Skin, Eye

Publications for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

Variations for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

Expression for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

Search GEO for disease gene expression data for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa.

Pathways for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

GO Terms for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

Sources for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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