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MCID: PSD050
MIFTS: 16

Pseudoxanthoma Elasticum, Forme Fruste

Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes
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Aliases & Classifications for Pseudoxanthoma Elasticum, Forme Fruste

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MalaCards integrated aliases for Pseudoxanthoma Elasticum, Forme Fruste:

Name: Pseudoxanthoma Elasticum, Forme Fruste 58 54 30 13 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to autosomal recessive pxe


HPO:

33
pseudoxanthoma elasticum, forme fruste:
Inheritance autosomal dominant inheritance


Classifications:

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


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Summaries for Pseudoxanthoma Elasticum, Forme Fruste

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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
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Related Diseases for Pseudoxanthoma Elasticum, Forme Fruste

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Symptoms & Phenotypes for Pseudoxanthoma Elasticum, Forme Fruste

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Human phenotypes related to Pseudoxanthoma Elasticum, Forme Fruste:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 scoliosis 33 HP:0002650
3 kyphosis 33 HP:0002808
4 visual impairment 33 HP:0000505
5 angina pectoris 33 HP:0001681
6 high, narrow palate 33 HP:0002705
7 myopia 33 HP:0000545
8 reduced visual acuity 33 HP:0007663
9 mitral valve prolapse 33 HP:0001634
10 gastrointestinal hemorrhage 33 HP:0002239
11 macular degeneration 33 HP:0000608
12 blue sclerae 33 HP:0000592
13 cerebral hemorrhage 33 HP:0001342
14 abnormality of the sternum 33 HP:0000766
15 retinal hemorrhage 33 HP:0000573
16 medial calcification of large arteries 33 HP:0004966
17 calcification of falx cerebri 33 HP:0005462
18 arteriosclerosis 33 HP:0002634
19 peau d'orange 33 HP:0025533
20 angioid streaks of the fundus 33 HP:0001102
21 premature occlusive vascular stenosis 33 HP:0005297
22 medial calcification of medium-sized arteries 33 HP:0012457
23 yellow papule 33 HP:0025507

Symptoms via clinical synopsis from OMIM:

58
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
Head And Neck Mouth:
high arched palate
yellowish lip mucosal nodules

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

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformities

Clinical features from OMIM:

177850
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Drugs & Therapeutics for Pseudoxanthoma Elasticum, Forme Fruste

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

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Genetic Tests for Pseudoxanthoma Elasticum, Forme Fruste

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Genetic tests related to Pseudoxanthoma Elasticum, Forme Fruste:

# Genetic test Affiliating Genes
1 Pseudoxanthoma Elasticum, Forme Fruste 30 ABCC6
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Anatomical Context for Pseudoxanthoma Elasticum, Forme Fruste

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

42
Retina
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Publications for Pseudoxanthoma Elasticum, Forme Fruste

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Variations for Pseudoxanthoma Elasticum, Forme Fruste

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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.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh37 Chromosome 16, 16284104: 16284104
2 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh38 Chromosome 16, 16190247: 16190247
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Expression for Pseudoxanthoma Elasticum, Forme Fruste

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Search GEO for disease gene expression data for Pseudoxanthoma Elasticum, Forme Fruste.
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Pathways for Pseudoxanthoma Elasticum, Forme Fruste

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GO Terms for Pseudoxanthoma Elasticum, Forme Fruste

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Sources for Pseudoxanthoma Elasticum, Forme Fruste

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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
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
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