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 56 52 29 13 6 39

Characteristics:

OMIM:

56
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 angina pectoris 31 HP:0001681
6 high, narrow palate 31 HP:0002705
7 gastrointestinal hemorrhage 31 HP:0002239
8 myopia 31 HP:0000545
9 reduced visual acuity 31 HP:0007663
10 mitral valve prolapse 31 HP:0001634
11 macular degeneration 31 HP:0000608
12 blue sclerae 31 HP:0000592
13 cerebral hemorrhage 31 HP:0001342
14 abnormality of the sternum 31 HP:0000766
15 retinal hemorrhage 31 HP:0000573
16 arteriosclerosis 31 HP:0002634
17 medial calcification of large arteries 31 HP:0004966
18 calcification of falx cerebri 31 HP:0005462
19 peau d'orange 31 HP:0025533
20 angioid streaks of the fundus 31 HP:0001102
21 premature occlusive vascular stenosis 31 HP:0005297
22 medial calcification of medium-sized arteries 31 HP:0012457
23 yellow papule 31 HP:0025507

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
myopia
macular degeneration
blue sclerae
retinal hemorrhage
angioid streaks of the retina
more
Neurologic Central Nervous System:
cerebral hemorrhage

Skeletal Skull:
calcification of falx cerebri

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

Abdomen Gastrointestinal:
gastrointestinal hemorrhage

Cardiovascular Heart:
mitral valve prolapse

Cardiovascular Vascular:
arteriosclerosis
claudication
angina
premature occlusive vascular disease
medial calcification of medium-sized and major arteries
more
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 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 14)
# Title Authors PMID Year
1
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 56
18800149 2009
2
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. 56
16541094 2006
3
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 56
16086317 2005
4
Does autosomal dominant pseudoxanthoma elasticum exist? 56
15098239 2004
5
Pseudoxanthoma Elasticum 6
20301292 2001
6
Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. 56
11209132 2001
7
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. 56
10835642 2000
8
Mutations in ABCC6 cause pseudoxanthoma elasticum. 56
10835643 2000
9
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 56
10811882 2000
10
Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). 56
10619263 1999
11
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. 56
9302259 1997
12
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. 56
9267806 1997
13
Classification of pseudoxanthoma elasticum: report of a consensus conference. 56
8277008 1994
14
Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk. 56
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.3421C>T (p.Arg1141Ter)SNV Pathogenic 6559 rs72653706 16:16256935-16256935 16:16163078-16163078
2 ABCC6 NM_001171.5(ABCC6):c.2787+1G>TSNV Pathogenic 6560 rs72664209 16:16267140-16267140 16:16173283-16173283
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.3904G>A (p.Gly1302Arg)SNV Pathogenic 6579 rs63749856 16:16248867-16248867 16:16155010-16155010
5 ABCC6 NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter)SNV Pathogenic 30339 rs72650700 16:16284104-16284104 16:16190247-16190247
6 ABCC6 NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln)SNV Pathogenic 265018 rs72653772 16:16284103-16284103 16:16190246-16190246
7 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

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61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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