MCID: PSD101
MIFTS: 14

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 60
Pxe-Like Syndrome with Retinitis Pigmentosa 60

Characteristics:

Orphanet epidemiological data:

60
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:

ICD10 via Orphanet 35 Q82.8
Orphanet 60 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 nyctalopia and rod-cone dystrophy

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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nyctalopia 60 33 obligate (100%) Obligate (100%) HP:0000662
2 rod-cone dystrophy 60 33 obligate (100%) Obligate (100%) HP:0000510
3 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
4 redundant skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001582
5 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
6 abnormality of the optic nerve 60 33 hallmark (90%) Very frequent (99-80%) HP:0000587
7 absent retinal pigment epithelium 60 33 hallmark (90%) Very frequent (99-80%) HP:0007980
8 increased number of skin folds 60 33 hallmark (90%) Very frequent (99-80%) HP:0007522
9 attenuation of retinal blood vessels 60 33 hallmark (90%) Very frequent (99-80%) HP:0007843
10 abnormality of the fundus 60 Frequent (79-30%)
11 cutis laxa 60 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:

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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