ZFIN Human Disease: pseudoxanthoma elasticum

OBO ID: DOID:2738

Term Name:	pseudoxanthoma elasticum		Search Ontology:
Synonyms:	Gronblad-Strandberg syndrome
Definition:	A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (3)
References:	GARD:9643 MESH:D011561 NCI:C85036 OMIM:177850 OMIM:264800 ORDO:758 SNOMEDCT_US_2023_03_01:7109007 UMLS_CUI:C0033847
Ontology:	Human Disease ( DOID:2738 )

Relationships

is a type of:	autosomal recessive disease connective tissue disease autosomal recessive disease connective tissue disease Show first 5 Terms

OTHER pseudoxanthoma elasticum PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ABCC6	abcc6b.1 abcc6a abcc6b.2	Pseudoxanthoma elasticum, forme fruste	177850
		Pseudoxanthoma elasticum	264800
XYLT1	xylt1	{Pseudoxanthoma elasticum, modifier of severity of}	264800
XYLT2	xylt2	{Pseudoxanthoma elasticum, modifier of severity of}	264800

ZEBRAFISH MODELS

Fish	Conditions	Citations
abcc6a^cmg52/cmg52 (AB)	standard conditions	Van Gils et al., 2022
abcc6a^elu15/elu15	standard conditions	Czimer et al., 2021
abcc6a^{hu4958/hu4958}	standard conditions	Mackay et al., 2015
enpp1^{hu4581/hu4581}	standard conditions	Apschner et al., 2014

PHENOTYPE No data available

CITATIONS (7)