PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 26
OrphanetNr:
OMIM Id: 177850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000218) High palate 356 / 7739
2
(HPO:0000592) Blue sclerae 85 / 7739
3
(HPO:0001102) Angioid streaks of the retina 11 / 7739
4
(HPO:0000505) Visual impairment 297 / 7739
5
(HPO:0000573) Retinal hemorrhage 13 / 7739
6
(HPO:0000545) Myopia 286 / 7739
7
(HPO:0000608) Macular degeneration 36 / 7739
8
(HPO:0002650) Scoliosis 705 / 7739
9
(HPO:0002808) Kyphosis 289 / 7739
10
(HPO:0000766) Abnormality of the sternum 31 / 7739
11
(HPO:0005462) Calcification of falx cerebri 6 / 7739
12
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
13
(HPO:0002634) Arteriosclerosis 3 / 7739
14
(HPO:0005297) Premature occlusive vascular disease 2 / 7739
15
(HPO:0001634) Mitral valve prolapse 69 / 7739
16
(HPO:0001681) Angina pectoris 22 / 7739
17
(HPO:0004417) Intermittent claudication 10 / 7739
18
(HPO:0001342) Cerebral hemorrhage 24 / 7739
19
(OMIM) Yellowish lip mucosal nodules 1 / 7739
20
(MedDRA:10049752) Peau d'orange 1 / 7739
21
(OMIM) Diminished or absent peripheral pulses 1 / 7739
22
(OMIM) Elastosis perforans serpiginosa 1 / 7739
23
(OMIM) Small, yellow papules (mouth, neck, axilla, elbows, groin, periumbilical region) 1 / 7739
24
(OMIM) Medial calcification of medium-sized and major arteries 1 / 7739
25
(OMIM) Salmon spots 1 / 7739
26
(OMIM) Peau d'orange retinal changes 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hausser and Anton-Lamprecht (1991) described a family in which the mother and grandmother died because of major vascular complications of PXE. Three adolescent sibs showed no clinical manifestations of PXE. However, ultrastructural investigation of overtly normal skin in ...
Molecular genetics OMIM Bacchelli et al. (1999) and Sherer et al. (2001) presented evidence that heterozygous mutant family members of affected individuals present limited manifestations of PXE.

Bergen et al. (2000), Le Saux et al. (2000), and Ringpfeil et ...