MCID: PRT094
MIFTS: 26

Protoporphyria, Erythropoietic, X-Linked

Categories: Genetic diseases, Nephrological diseases, Skin diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Protoporphyria, Erythropoietic, X-Linked

MalaCards integrated aliases for Protoporphyria, Erythropoietic, X-Linked:

Name: Protoporphyria, Erythropoietic, X-Linked 57 29 13 6 40
Protoporphyria, Erythropoietic, X-Linked Dominant 57 73
Xldpp 57 59
Protoporphyria, Erythropoietic, X-Linked Dominant; Xldpp 57
Erythropoietic Protoporphyria, X-Linked Dominant 75
X-Linked Dominant Erythropoietic Protoporphyria 59
Erythrohepatic Protoporphyria, X-Linked 57
X-Linked Erythropoietic Protoporphyria 59
X-Linked Dominant Protoporphyria 59
Xlepp 57
Xldpt 75
Xlpp 59
Xlp 59

Characteristics:

Orphanet epidemiological data:

59
x-linked erythropoietic protoporphyria
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked

Miscellaneous:
onset in early childhood
some females with the mutation may be unaffected or mildly affected due to skewed x-chromosome inactivation


HPO:

32
protoporphyria, erythropoietic, x-linked:
Inheritance x-linked dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 57 300752
Orphanet 59 ORPHA443197
ICD10 via Orphanet 34 E80.0
UMLS via Orphanet 74 C2677889
MedGen 42 C2677889
MeSH 44 D046351
UMLS 73 C2677889

Summaries for Protoporphyria, Erythropoietic, X-Linked

UniProtKB/Swiss-Prot : 75 Erythropoietic protoporphyria, X-linked dominant: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease.

MalaCards based summary : Protoporphyria, Erythropoietic, X-Linked, also known as protoporphyria, erythropoietic, x-linked dominant, is related to lymphoproliferative syndrome, x-linked, 1 and hemophagocytic lymphohistiocytosis. An important gene associated with Protoporphyria, Erythropoietic, X-Linked is ALAS2 (5'-Aminolevulinate Synthase 2). Affiliated tissues include liver and skin, and related phenotypes are elevated hepatic transaminases and cholelithiasis

OMIM : 57 X-linked erythropoietic protoporphyria (XLEPP) is a metabolic disorder of heme biosynthesis characterized by onset in early childhood of severe photosensitivity associated with decreased iron stores and increased erythrocyte zinc- and metal-free protoporphyrin. Some patients may develop liver disease or gallstones (summary by Ducamp et al., 2013). For a discussion of genetic heterogeneity of erythropoietic protoporphyria, see EPP1 (177000). (300752)

Related Diseases for Protoporphyria, Erythropoietic, X-Linked

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

# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 1 12.1
2 hemophagocytic lymphohistiocytosis 11.4
3 hemosiderosis 10.0
4 porphyria 10.0
5 hematopoietic stem cell transplantation 10.0
6 lymphoma, hodgkin, classic 9.8
7 lymphoma, non-hodgkin, familial 9.8
8 lymphoma 9.8
9 lymphoproliferative syndrome 9.8
10 mature b-cell neoplasm 9.8

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



Diseases related to Protoporphyria, Erythropoietic, X-Linked

Symptoms & Phenotypes for Protoporphyria, Erythropoietic, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
abnormal liver function (in some patients)

Skin Nails Hair Skin:
photosensitivity, severe

Abdomen Biliary Tract:
gallstones (in some patients)

Hematology:
iron deficiency
iron-deficiency anemia (in some patients)
increased erythrocyte zinc- and metal-free protoporphyrin


Clinical features from OMIM:

300752

Human phenotypes related to Protoporphyria, Erythropoietic, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
2 cholelithiasis 32 occasional (7.5%) HP:0001081
3 iron deficiency anemia 32 occasional (7.5%) HP:0001891
4 cutaneous photosensitivity 32 HP:0000992
5 increased erythrocyte protoporphyrin concentration 32 HP:0012187

Drugs & Therapeutics for Protoporphyria, Erythropoietic, X-Linked

Search Clinical Trials , NIH Clinical Center for Protoporphyria, Erythropoietic, X-Linked

Genetic Tests for Protoporphyria, Erythropoietic, X-Linked

Genetic tests related to Protoporphyria, Erythropoietic, X-Linked:

# Genetic test Affiliating Genes
1 Protoporphyria, Erythropoietic, X-Linked 29 ALAS2

Anatomical Context for Protoporphyria, Erythropoietic, X-Linked

MalaCards organs/tissues related to Protoporphyria, Erythropoietic, X-Linked:

41
Liver, Skin

Publications for Protoporphyria, Erythropoietic, X-Linked

Articles related to Protoporphyria, Erythropoietic, X-Linked:

# Title Authors Year
1
X-linked dominant protoporphyria: a new porphyria. ( 24131146 )
2014
2
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP). ( 23263862 )
2013
3
Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. ( 23223129 )
2013
4
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. ( 18760763 )
2008

Variations for Protoporphyria, Erythropoietic, X-Linked

ClinVar genetic disease variations for Protoporphyria, Erythropoietic, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALAS2 NM_000032.4(ALAS2): c.1706_1709delAGTG (p.Glu569Glyfs) deletion Pathogenic rs387906472 GRCh37 Chromosome X, 55035668: 55035671
2 ALAS2 NM_000032.4(ALAS2): c.1706_1709delAGTG (p.Glu569Glyfs) deletion Pathogenic rs387906472 GRCh38 Chromosome X, 55009235: 55009238
3 ALAS2 NM_000032.4(ALAS2): c.1699_1700delAT (p.Met567Glufs) deletion Pathogenic rs387906473 GRCh37 Chromosome X, 55035677: 55035678
4 ALAS2 NM_000032.4(ALAS2): c.1699_1700delAT (p.Met567Glufs) deletion Pathogenic rs387906473 GRCh38 Chromosome X, 55009244: 55009245
5 ALAS2 NM_000032.4(ALAS2): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic rs397514730 GRCh37 Chromosome X, 55035735: 55035735
6 ALAS2 NM_000032.4(ALAS2): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic rs397514730 GRCh38 Chromosome X, 55009302: 55009302
7 ALAS2 NM_000032.4(ALAS2): c.1651_1676del26 (p.Ser551Profs) deletion Pathogenic rs879255567 GRCh38 Chromosome X, 55009268: 55009293
8 ALAS2 NM_000032.4(ALAS2): c.1651_1676del26 (p.Ser551Profs) deletion Pathogenic rs879255567 GRCh37 Chromosome X, 55035701: 55035726

Expression for Protoporphyria, Erythropoietic, X-Linked

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

Pathways for Protoporphyria, Erythropoietic, X-Linked

GO Terms for Protoporphyria, Erythropoietic, X-Linked

Sources for Protoporphyria, Erythropoietic, X-Linked

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17 ExPASy
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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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