MCID: PSD050
MIFTS: 22

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 57 20 29 13 6 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
allelic to autosomal recessive pxe


HPO:

31
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 scoliosis and kyphosis

More information 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:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 high palate 31 HP:0000218
4 visual impairment 31 HP:0000505
5 high, narrow palate 31 HP:0002705
6 myopia 31 HP:0000545
7 mitral valve prolapse 31 HP:0001634
8 angina pectoris 31 HP:0001681
9 reduced visual acuity 31 HP:0007663
10 gastrointestinal hemorrhage 31 HP:0002239
11 blue sclerae 31 HP:0000592
12 cerebral hemorrhage 31 HP:0001342
13 retinal hemorrhage 31 HP:0000573
14 macular degeneration 31 HP:0000608
15 angioid streaks of the fundus 31 HP:0001102
16 calcification of falx cerebri 31 HP:0005462
17 arteriosclerosis 31 HP:0002634
18 medial calcification of large arteries 31 HP:0004966
19 medial calcification of medium-sized arteries 31 HP:0012457
20 peau d'orange 31 HP:0025533
21 abnormal sternum morphology 31 HP:0000766
22 premature occlusive vascular stenosis 31 HP:0005297
23 yellow papule 31 HP:0025507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
blue sclerae
retinal hemorrhage
macular degeneration
decreased visual acuity
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 (Updated 05-Mar-2021)

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 29 ABCC6

Anatomical Context for Pseudoxanthoma Elasticum, Forme Fruste

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

40
Retina

Publications for Pseudoxanthoma Elasticum, Forme Fruste

Articles related to Pseudoxanthoma Elasticum, Forme Fruste:

(show all 13)
# Title Authors PMID Year
1
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 57
18800149 2009
2
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. 57
16541094 2006
3
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 57
16086317 2005
4
Does autosomal dominant pseudoxanthoma elasticum exist? 57
15098239 2004
5
Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. 57
11209132 2001
6
Mutations in ABCC6 cause pseudoxanthoma elasticum. 57
10835643 2000
7
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. 57
10835642 2000
8
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 57
10811882 2000
9
Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). 57
10619263 1999
10
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. 57
9302259 1997
11
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. 57
9267806 1997
12
Classification of pseudoxanthoma elasticum: report of a consensus conference. 57
8277008 1994
13
Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk. 57
1937472 1991

Variations for Pseudoxanthoma Elasticum, Forme Fruste

ClinVar genetic disease variations for Pseudoxanthoma Elasticum, Forme Fruste:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC6 NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) SNV Pathogenic 30339 rs72650700 16:16284104-16284104 16:16190247-16190247
2 ABCC6 NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) SNV Pathogenic 6579 rs63749856 16:16248867-16248867 16:16155010-16155010
3 ABCC6 NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) SNV Pathogenic 6571 rs28939701 16:16256944-16256944 16:16163087-16163087
4 ABCC6 NM_001171.5(ABCC6):c.2787+1G>T SNV Pathogenic 6560 rs72664209 16:16267140-16267140 16:16173283-16173283
5 ABCC6 NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln) SNV Pathogenic 265018 rs72653772 16:16284103-16284103 16:16190246-16190246
6 ABCC6 NM_001171.5(ABCC6):c.2248-2_2248-1del Deletion Pathogenic 433411 rs111113624 16:16272823-16272824 16:16178966-16178967
7 ABCC6 NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) SNV Pathogenic 6559 rs72653706 16:16256935-16256935 16:16163078-16163078
8 ABCC6 NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) SNV Uncertain significance 291095 rs151187637 16:16286694-16286694 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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