MCID: PSD050
MIFTS: 15

Pseudoxanthoma Elasticum, Forme Fruste

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pseudoxanthoma Elasticum, Forme Fruste

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:



Summaries for Pseudoxanthoma Elasticum, Forme Fruste

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

Related Diseases for Pseudoxanthoma Elasticum, Forme Fruste

Symptoms & Phenotypes for Pseudoxanthoma Elasticum, Forme Fruste

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

Drugs & Therapeutics for Pseudoxanthoma Elasticum, Forme Fruste

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

Genetic Tests for Pseudoxanthoma Elasticum, Forme Fruste

Genetic tests related to Pseudoxanthoma Elasticum, Forme Fruste:

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

Anatomical Context for Pseudoxanthoma Elasticum, Forme Fruste

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

42
Retina

Publications for Pseudoxanthoma Elasticum, Forme Fruste

Variations for Pseudoxanthoma Elasticum, Forme Fruste

ClinVar genetic disease variations for Pseudoxanthoma Elasticum, Forme Fruste:

6 (show all 14)
# 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.2787+1G> T single nucleotide variant Pathogenic rs72664209 GRCh37 Chromosome 16, 16267140: 16267140
4 ABCC6 NM_001171.5(ABCC6): c.2787+1G> T single nucleotide variant Pathogenic rs72664209 GRCh38 Chromosome 16, 16173283: 16173283
5 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh37 Chromosome 16, 16256944: 16256944
6 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh38 Chromosome 16, 16163087: 16163087
7 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh37 Chromosome 16, 16248867: 16248867
8 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh38 Chromosome 16, 16155010: 16155010
9 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh37 Chromosome 16, 16284104: 16284104
10 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh38 Chromosome 16, 16190247: 16190247
11 ABCC6 NM_001171.5(ABCC6): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic rs72653772 GRCh37 Chromosome 16, 16284103: 16284103
12 ABCC6 NM_001171.5(ABCC6): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic rs72653772 GRCh38 Chromosome 16, 16190246: 16190246
13 ABCC6 NM_001171.5(ABCC6): c.1424A> T (p.His475Leu) single nucleotide variant Uncertain significance rs151187637 GRCh37 Chromosome 16, 16286694: 16286694
14 ABCC6 NM_001171.5(ABCC6): c.1424A> T (p.His475Leu) single nucleotide variant Uncertain significance rs151187637 GRCh38 Chromosome 16, 16192837: 16192837

Expression for Pseudoxanthoma Elasticum, Forme Fruste

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

Pathways for Pseudoxanthoma Elasticum, Forme Fruste

GO Terms for Pseudoxanthoma Elasticum, Forme Fruste

Sources for Pseudoxanthoma Elasticum, Forme Fruste

3 CDC
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10 dbSNP
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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