Cardiology · Cardiology / Vascular medicine
Pseudoxanthoma elasticum
also: Grönblad–Strandberg syndrome
Elastic fiber calcification of skin, eyes and arteries.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Vascular medicine
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, onset in adolescence
- Gene(s) involved
- ABCC6, ENPP1, GGCX
- Alternative names & eponyms
- Grönblad–Strandberg syndrome
Etiology & mechanism
ABCC6 deficiency causes ectopic mineralization.
Gene(s) involved (3)
Symptoms & signs (7)
In plain terms, someone with Pseudoxanthoma elasticum may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Alport syndrome
hypertension
1 shared
Ask–Upmark kidney syndrome
hypertension
1 shared
Atypical hemolytic uremic syndrome
hypertension
1 shared
Blue rubber bleb nevus syndrome
gastrointestinal bleeding
1 shared
Charles Bonnet syndrome
vision loss
1 shared
Cogan syndrome
vision loss
1 shared
Conn syndrome
hypertension
1 shared
Cushing syndrome
hypertension
1 shared
Ectopic ACTH syndrome
hypertension
1 shared
Ectopic Cushing syndrome
hypertension
Shares genes with
None.
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