Aliases & Classifications for X-Linked Protoporphyria

MalaCards integrated aliases for X-Linked Protoporphyria:

Name: X-Linked Protoporphyria 25 6

Characteristics:

GeneReviews:

25
Penetrance Xlp appears to be 100% penetrant in males....

Summaries for X-Linked Protoporphyria

MalaCards based summary : X-Linked Protoporphyria is related to protoporphyria, erythropoietic, 1 and porphyria. An important gene associated with X-Linked Protoporphyria is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways are Biosynthesis of cofactors and Porphyrin and chlorophyll metabolism. Affiliated tissues include bone marrow and liver.

GeneReviews: NBK121284

Related Diseases for X-Linked Protoporphyria

Graphical network of the top 20 diseases related to X-Linked Protoporphyria:



Diseases related to X-Linked Protoporphyria

Symptoms & Phenotypes for X-Linked Protoporphyria

Drugs & Therapeutics for X-Linked Protoporphyria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Adults and Adolescents With Erythropoietic Protoporphyria or X-Linked Protoporphyria Recruiting NCT04402489 Phase 3 Placebo;MT-7117 Low Dose;MT-7117 High Dose

Search NIH Clinical Center for X-Linked Protoporphyria

Genetic Tests for X-Linked Protoporphyria

Anatomical Context for X-Linked Protoporphyria

MalaCards organs/tissues related to X-Linked Protoporphyria:

40
Bone Marrow, Liver

Publications for X-Linked Protoporphyria

Articles related to X-Linked Protoporphyria:

(show top 50) (show all 56)
# Title Authors PMID Year
1
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 6 25
18760763 2008
2
Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria. 61 25
33636932 2018
3
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. 61 25
28614581 2017
4
X-linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia. 25 61
26193873 2016
5
Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis. 25 61
25856424 2015
6
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. 61 25
23364466 2013
7
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP). 6
23263862 2013
8
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. 25 61
23348515 2013
9
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. 25
28874591 2017
10
Afamelanotide for Erythropoietic Protoporphyria. 25
26132941 2015
11
Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. 25
25494545 2015
12
Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. 25
23223129 2013
13
Liver transplantation for erythropoietic protoporphyria in Europe. 25
21604355 2011
14
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. 25
20412370 2011
15
Vitamin D deficiency in patients with erythropoietic protoporphyria. 25
24137761 2010
16
Acquired erythropoietic protoporphyria. 25
19902211 2010
17
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 25
20105171 2010
18
The role for BMT in erythropoietic protoporphyria. 25
19525986 2010
19
Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone. 25
19656325 2009
20
A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. 25
19268006 2009
21
Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. 25
18756472 2008
22
Serum 25-hydroxyvitamin D in erythropoietic protoporphyria. 25
18476956 2008
23
Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. 25
17074841 2006
24
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. 25
16882191 2006
25
Liver transplantation for erythropoietic protoporphyria liver disease. 25
16315313 2005
26
Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation. 25
11884947 2002
27
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. 25
11886534 2001
28
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. 25
11039124 2000
29
Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. 25
8996259 1997
30
Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. 25
3335288 1988
31
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release. 61
32499479 2020
32
5-Aminolevulinate synthase catalysis: The catcher in heme biosynthesis. 61
31345668 2019
33
Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias. 61
30737140 2019
34
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. 61
30737139 2019
35
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. 61
30594473 2019
36
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. 61
31741822 2019
37
Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study. 61
30711301 2019
38
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. 61
30704898 2019
39
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. 61
30454868 2019
40
Clinical Guide and Update on Porphyrias. 61
31085196 2019
41
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants. 61
30678654 2019
42
[Porphyrias-what is verified?] 61
30328490 2018
43
Diffuse 18F-FDG Avidity in Liver Associated With X-Linked Protoporphyria on PET/CT. 61
29894336 2018
44
Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase. 61
29958424 2018
45
Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments. 61
28118224 2017
46
Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients. 61
27838491 2017
47
Advances in the management of erythropoietic protoporphyria - role of afamelanotide. 61
28003770 2016
48
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. 61
25615817 2016
49
Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. 61
26482161 2015
50
Homeostasis of iron and hepcidin in erythropoietic protoporphyria. 61
26199063 2015

Variations for X-Linked Protoporphyria

ClinVar genetic disease variations for X-Linked Protoporphyria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALAS2 NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) Deletion Pathogenic 10483 rs387906473 GRCh37: X:55035677-55035678
GRCh38: X:55009244-55009245
2 ALAS2 NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) SNV Pathogenic 60673 rs397514730 GRCh37: X:55035735-55035735
GRCh38: X:55009302-55009302
3 ALAS2 NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) Deletion Pathogenic 60674 rs879255567 GRCh37: X:55035701-55035726
GRCh38: X:55009268-55009293
4 ALAS2 NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) SNV Pathogenic 40978 rs139596860 GRCh37: X:55035620-55035620
GRCh38: X:55009187-55009187
5 ALAS2 NM_000032.5(ALAS2):c.1702_1705AGTG[1] (p.Glu569fs) Microsatellite Pathogenic 10482 rs387906472 GRCh37: X:55035668-55035671
GRCh38: X:55009235-55009238

Expression for X-Linked Protoporphyria

Search GEO for disease gene expression data for X-Linked Protoporphyria.

Pathways for X-Linked Protoporphyria

GO Terms for X-Linked Protoporphyria

Cellular components related to X-Linked Protoporphyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 8.96 FECH ALAS2
2 mitochondrial matrix GO:0005759 8.62 FECH ALAS2

Biological processes related to X-Linked Protoporphyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme biosynthetic process GO:0006783 8.62 FECH ALAS2

Sources for X-Linked Protoporphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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