XLEPP
MCID: PRT094
MIFTS: 26

Protoporphyria, Erythropoietic, X-Linked (XLEPP)

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

Aliases & Classifications for Protoporphyria, Erythropoietic, X-Linked

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

Name: Protoporphyria, Erythropoietic, X-Linked 58 30 13 6 41
Protoporphyria, Erythropoietic, X-Linked Dominant 58 74
X-Linked Erythropoietic Protoporphyria 60 17
Xldpp 58 60
Protoporphyria, Erythropoietic, X-Linked Dominant; Xldpp 58
Erythropoietic Protoporphyria, X-Linked Dominant 76
X-Linked Dominant Erythropoietic Protoporphyria 60
Erythrohepatic Protoporphyria, X-Linked 58
X-Linked Dominant Protoporphyria 60
Xlepp 58
Xldpt 76
Xlpp 60
Xlp 60

Characteristics:

Orphanet epidemiological data:

60
x-linked erythropoietic protoporphyria
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Miscellaneous:
onset in early childhood
some females with the mutation may be unaffected or mildly affected due to skewed x-chromosome inactivation

Inheritance:
x-linked


HPO:

33
protoporphyria, erythropoietic, x-linked:
Onset and clinical course childhood onset
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 58 300752
MeSH 45 D046351
ICD10 via Orphanet 35 E80.0
UMLS via Orphanet 75 C2677889
Orphanet 60 ORPHA443197
MedGen 43 C2677889
UMLS 74 C2677889

Summaries for Protoporphyria, Erythropoietic, X-Linked

UniProtKB/Swiss-Prot : 76 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 transaminase and cholelithiasis

OMIM : 58 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 1 12.4
2 hemophagocytic lymphohistiocytosis 11.6
3 lymphoproliferative syndrome 10.4
4 hematopoietic stem cell transplantation 10.2
5 lymphoma 10.2
6 hemosiderosis 10.1
7 porphyria 10.1
8 lymphoma, hodgkin, classic 10.0
9 lymphoma, non-hodgkin, familial 10.0
10 agammaglobulinemia 10.0
11 x-linked lymphoproliferative disease due to sh2d1a deficiency 10.0

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

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

33
# Description HPO Frequency HPO Source Accession
1 elevated hepatic transaminase 33 occasional (7.5%) HP:0002910
2 cholelithiasis 33 occasional (7.5%) HP:0001081
3 iron deficiency anemia 33 occasional (7.5%) HP:0001891
4 cutaneous photosensitivity 33 HP:0000992
5 increased erythrocyte protoporphyrin concentration 33 HP:0012187

Symptoms via clinical synopsis from OMIM:

58
Hematology:
iron deficiency
iron-deficiency anemia (in some patients)
increased erythrocyte zinc- and metal-free protoporphyrin

Abdomen Biliary Tract:
gallstones (in some patients)

Abdomen Liver:
abnormal liver function (in some patients)

Skin Nails Hair Skin:
photosensitivity, severe

Clinical features from OMIM:

300752

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 30 ALAS2

Anatomical Context for Protoporphyria, Erythropoietic, X-Linked

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

42
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
Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. ( 23223129 )
2013
3
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
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.1757A> T (p.Tyr586Phe) single nucleotide variant Uncertain significance rs139596860 GRCh37 Chromosome X, 55035620: 55035620
6 ALAS2 NM_000032.4(ALAS2): c.1757A> T (p.Tyr586Phe) single nucleotide variant Uncertain significance rs139596860 GRCh38 Chromosome X, 55009187: 55009187
7 ALAS2 NM_000032.4(ALAS2): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic rs397514730 GRCh37 Chromosome X, 55035735: 55035735
8 ALAS2 NM_000032.4(ALAS2): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic rs397514730 GRCh38 Chromosome X, 55009302: 55009302
9 ALAS2 NM_000032.4(ALAS2): c.1651_1676del26 (p.Ser551Profs) deletion Pathogenic rs879255567 GRCh38 Chromosome X, 55009268: 55009293
10 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....