Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: PSD050
MIFTS: 16

Pseudoxanthoma Elasticum, Forme Fruste

Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes
Sources

Aliases & Classifications for Pseudoxanthoma Elasticum, Forme Fruste

About this section

MalaCards integrated aliases for Pseudoxanthoma Elasticum, Forme Fruste:

Name: Pseudoxanthoma Elasticum, Forme Fruste 57 53 29 13 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to autosomal recessive pxe


HPO:

32
pseudoxanthoma elasticum, forme fruste:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Pseudoxanthoma Elasticum, Forme Fruste

About this section
MalaCards based summary : Pseudoxanthoma Elasticum, Forme Fruste An important gene associated with Pseudoxanthoma Elasticum, Forme Fruste is ABCC6 (ATP Binding Cassette Subfamily C Member 6). Affiliated tissues include retina, and related phenotypes are high palate and scoliosis

Description from OMIM: 177850
Sources

Related Diseases for Pseudoxanthoma Elasticum, Forme Fruste

About this section
Sources

Symptoms & Phenotypes for Pseudoxanthoma Elasticum, Forme Fruste

About this section

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis

Cardiovascular Heart:
mitral valve prolapse

Neurologic Central Nervous System:
cerebral hemorrhage

Cardiovascular Vascular:
arteriosclerosis
claudication
angina
premature occlusive vascular disease
medial calcification of medium-sized and major arteries
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus deformities

Head And Neck Eyes:
myopia
macular degeneration
blue sclerae
retinal hemorrhage
angioid streaks of the retina
more
Abdomen Gastrointestinal:
gastrointestinal hemorrhage

Skeletal Skull:
calcification of falx cerebri

Head And Neck Mouth:
high arched palate
yellowish lip mucosal nodules

Skin Nails Hair Skin:
small, yellow papules (mouth, neck, axilla, elbows, groin, periumbilical region)
peau d'orange
elastosis perforans serpiginosa


Clinical features from OMIM:

177850

Human phenotypes related to Pseudoxanthoma Elasticum, Forme Fruste:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 visual impairment 32 HP:0000505
5 angina pectoris 32 HP:0001681
6 high, narrow palate 32 HP:0002705
7 myopia 32 HP:0000545
8 reduced visual acuity 32 HP:0007663
9 mitral valve prolapse 32 HP:0001634
10 gastrointestinal hemorrhage 32 HP:0002239
11 macular degeneration 32 HP:0000608
12 blue sclerae 32 HP:0000592
13 cerebral hemorrhage 32 HP:0001342
14 abnormality of the sternum 32 HP:0000766
15 retinal hemorrhage 32 HP:0000573
16 medial calcification of large arteries 32 HP:0004966
17 calcification of falx cerebri 32 HP:0005462
18 arteriosclerosis 32 HP:0002634
19 peau d'orange 32 HP:0025533
20 angioid streaks of the fundus 32 HP:0001102
21 premature occlusive vascular stenosis 32 HP:0005297
22 medial calcification of medium-sized arteries 32 HP:0012457
23 yellow papule 32 HP:0025507
Sources

Drugs & Therapeutics for Pseudoxanthoma Elasticum, Forme Fruste

About this section

Search Clinical Trials , NIH Clinical Center for Pseudoxanthoma Elasticum, Forme Fruste

Sources

Genetic Tests for Pseudoxanthoma Elasticum, Forme Fruste

About this section

Genetic tests related to Pseudoxanthoma Elasticum, Forme Fruste:

# Genetic test Affiliating Genes
1 Pseudoxanthoma Elasticum, Forme Fruste 29 ABCC6
Sources

Anatomical Context for Pseudoxanthoma Elasticum, Forme Fruste

About this section

MalaCards organs/tissues related to Pseudoxanthoma Elasticum, Forme Fruste:

41
Retina
Sources

Publications for Pseudoxanthoma Elasticum, Forme Fruste

About this section
Sources

Variations for Pseudoxanthoma Elasticum, Forme Fruste

About this section

ClinVar genetic disease variations for Pseudoxanthoma Elasticum, Forme Fruste:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh37 Chromosome 16, 16256935: 16256935
2 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh38 Chromosome 16, 16163078: 16163078
3 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh37 Chromosome 16, 16284104: 16284104
4 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh38 Chromosome 16, 16190247: 16190247
Sources

Expression for Pseudoxanthoma Elasticum, Forme Fruste

About this section
Search GEO for disease gene expression data for Pseudoxanthoma Elasticum, Forme Fruste.
Sources

Pathways for Pseudoxanthoma Elasticum, Forme Fruste

About this section
Sources

GO Terms for Pseudoxanthoma Elasticum, Forme Fruste

About this section
Sources

Sources for Pseudoxanthoma Elasticum, Forme Fruste

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....