MCID: PSD050
MIFTS: 16

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 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:



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 visual impairment

Description from OMIM: 177850

Related Diseases for Pseudoxanthoma Elasticum, Forme Fruste

Symptoms & Phenotypes for Pseudoxanthoma Elasticum, Forme Fruste

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

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:

41
Retina

Publications for Pseudoxanthoma Elasticum, Forme Fruste

Variations for Pseudoxanthoma Elasticum, Forme Fruste

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

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 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
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