XLEPP
MCID: PRT094
MIFTS: 28

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 57 29 13 6 39
Protoporphyria, Erythropoietic, X-Linked Dominant 57 70
X-Linked Erythropoietic Protoporphyria 58 17
Xldpp 57 58
Protoporphyria, Erythropoietic, X-Linked Dominant; Xldpp 57
Erythropoietic Protoporphyria, X-Linked Dominant 72
X-Linked Dominant Erythropoietic Protoporphyria 58
Erythrohepatic Protoporphyria, X-Linked 57
X-Linked Dominant Protoporphyria 58
Xlepp 57
Xldpt 72
Xlpp 58
Xlp 58

Characteristics:

Orphanet epidemiological data:

58
x-linked erythropoietic protoporphyria
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
protoporphyria, erythropoietic, x-linked:
Onset and clinical course childhood onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 300752
OMIM Phenotypic Series 57 PS177000
MeSH 44 D046351
ICD10 via Orphanet 33 E80.0
UMLS via Orphanet 71 C2677889
Orphanet 58 ORPHA443197
MedGen 41 C2677889
UMLS 70 C2677889

Summaries for Protoporphyria, Erythropoietic, X-Linked

UniProtKB/Swiss-Prot : 72 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, familial, 1. An important gene associated with Protoporphyria, Erythropoietic, X-Linked is ALAS2 (5'-Aminolevulinate Synthase 2). Affiliated tissues include liver, bone marrow and bone, and related phenotypes are elevated hepatic transaminase 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) (Updated 20-May-2021)

Related Diseases for Protoporphyria, Erythropoietic, X-Linked

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:

31
# Description HPO Frequency HPO Source Accession
1 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
2 cholelithiasis 31 occasional (7.5%) HP:0001081
3 iron deficiency anemia 31 occasional (7.5%) HP:0001891
4 cutaneous photosensitivity 31 HP:0000992
5 increased erythrocyte protoporphyrin concentration 31 HP:0012187

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Liver, Bone Marrow, Bone

Publications for Protoporphyria, Erythropoietic, X-Linked

Articles related to Protoporphyria, Erythropoietic, X-Linked:

# Title Authors PMID Year
1
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP). 6 57
23263862 2013
2
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 6 57
18760763 2008
3
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. 57
25615817 2016
4
Porphyrias and photosensitivity: pathophysiology for the clinician. 61
30296862 2018

Variations for Protoporphyria, Erythropoietic, X-Linked

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

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 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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