Aliases & Classifications for X-Linked Protoporphyria

MalaCards integrated aliases for X-Linked Protoporphyria:

Name: X-Linked Protoporphyria 24

Summaries for X-Linked Protoporphyria

MalaCards based summary : X-Linked Protoporphyria is related to protoporphyria, erythropoietic and protoporphyria, erythropoietic, x-linked. An important gene associated with X-Linked Protoporphyria is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways is Porphyrin and chlorophyll metabolism. The drugs Aminolevulinic acid and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow.

GeneReviews:

Related Diseases for X-Linked Protoporphyria

Diseases related to X-Linked Protoporphyria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 protoporphyria, erythropoietic 31.5 ALAS2 FECH
2 protoporphyria, erythropoietic, x-linked 11.5
3 acute porphyria 9.5 ALAS2 FECH
4 coproporphyria, hereditary 9.3 ALAS2 FECH
5 anemia, sideroblastic, 1 9.2 ALAS2 FECH
6 porphyria 9.0 ALAS2 FECH

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

Drugs for X-Linked Protoporphyria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved 106-60-5 137
2
Iron Approved Not Applicable 7439-89-6 23925
3
Protoporphyrin IX Experimental Not Applicable 553-12-8
4 Micronutrients Not Applicable
5 Trace Elements Not Applicable
6 Iron Supplement Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
2 Longitudinal Study of the Porphyrias Recruiting NCT01561157
3 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895

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:

41
Liver, Bone, Bone Marrow

Publications for X-Linked Protoporphyria

Articles related to X-Linked Protoporphyria:

# Title Authors Year
1
Diffuse 18F-FDG Avidity in Liver Associated With X-Linked Protoporphyria on PET/CT. ( 29894336 )
2018
2
Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients. ( 27838491 )
2017
3
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. ( 28614581 )
2017
4
Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release. ( 26300302 )
2015
5
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. ( 25615817 )
2015
6
X-linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia. ( 26193873 )
2015
7
Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis. ( 25856424 )
2015
8
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. ( 23348515 )
2013
9
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. ( 23364466 )
2013
10
X-Linked Protoporphyria ( 23409301 )
1993

Variations for X-Linked Protoporphyria

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 ALAS2 FECH
2 mitochondrial matrix GO:0005759 8.62 ALAS2 FECH

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 ALAS2 FECH

Sources for X-Linked Protoporphyria

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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