MCID: PSD101
MIFTS: 13

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
Pxe-Like Syndrome 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:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA436274

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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rod-cone dystrophy 58 31 obligate (100%) Obligate (100%) HP:0000510
2 nyctalopia 58 31 obligate (100%) Obligate (100%) HP:0000662
3 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
4 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
5 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
6 abnormality of the optic nerve 58 31 hallmark (90%) Very frequent (99-80%) HP:0000587
7 absent retinal pigment epithelium 58 31 hallmark (90%) Very frequent (99-80%) HP:0007980
8 increased number of skin folds 58 31 hallmark (90%) Very frequent (99-80%) HP:0007522
9 attenuation of retinal blood vessels 58 31 hallmark (90%) Very frequent (99-80%) HP:0007843
10 abnormal fundus morphology 58 Frequent (79-30%)
11 cutis laxa 58 Obligate (100%)

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:

40
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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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