EPP2
MCID: PRT135
MIFTS: 15

Protoporphyria, Erythropoietic, 2 (EPP2)

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

Aliases & Classifications for Protoporphyria, Erythropoietic, 2

MalaCards integrated aliases for Protoporphyria, Erythropoietic, 2:

Name: Protoporphyria, Erythropoietic, 2 58 76 6
Epp2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
onset in infancy
variable severity
one family has been reported (last curated june 2018)


HPO:

33
protoporphyria, erythropoietic, 2:
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM 58 618015
MeSH 45 D046351
MedGen 43 CN248523
SNOMED-CT via HPO 70 90128006

Summaries for Protoporphyria, Erythropoietic, 2

UniProtKB/Swiss-Prot : 76 Protoporphyria, erythropoietic, 2: An autosomal dominant form of porphyria with onset in infancy. 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. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.

MalaCards based summary : Protoporphyria, Erythropoietic, 2, is also known as epp2. An important gene associated with Protoporphyria, Erythropoietic, 2 is CLPX (Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit). Affiliated tissues include skin and liver, and related phenotype is cutaneous photosensitivity.

OMIM : 58 Erythropoietic porphyria-2 is an autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Affected individuals may have photosensitivity (summary by Yien et al., 2017) For discussion of genetic heterogeneity of EPP, see EPP1 (177000). (618015)

Related Diseases for Protoporphyria, Erythropoietic, 2

Diseases in the Erythropoietic Protoporphyria, Autosomal Recessive family:

Protoporphyria, Erythropoietic, 1 Protoporphyria, Erythropoietic, 2

Symptoms & Phenotypes for Protoporphyria, Erythropoietic, 2

Human phenotypes related to Protoporphyria, Erythropoietic, 2:

33
# Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 33 HP:0000992

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
photosensitivity
painful phototoxic reactions

Laboratory Abnormalities:
increased porphyrins in plasma
accumulation of erythroid ppix
accumulation of free and zinc-ppix

Hematology:
iron-deficiency anemia (1 patient)

Clinical features from OMIM:

618015

Drugs & Therapeutics for Protoporphyria, Erythropoietic, 2

Search Clinical Trials , NIH Clinical Center for Protoporphyria, Erythropoietic, 2

Genetic Tests for Protoporphyria, Erythropoietic, 2

Anatomical Context for Protoporphyria, Erythropoietic, 2

MalaCards organs/tissues related to Protoporphyria, Erythropoietic, 2:

42
Skin, Liver

Publications for Protoporphyria, Erythropoietic, 2

Variations for Protoporphyria, Erythropoietic, 2

UniProtKB/Swiss-Prot genetic disease variations for Protoporphyria, Erythropoietic, 2:

76
# Symbol AA change Variation ID SNP ID
1 CLPX p.Gly298Asp VAR_081001

ClinVar genetic disease variations for Protoporphyria, Erythropoietic, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLPX NM_006660.5(CLPX): c.893G> A (p.Gly298Asp) single nucleotide variant Likely pathogenic rs1555412542 GRCh37 Chromosome 15, 65450248: 65450248
2 CLPX NM_006660.5(CLPX): c.893G> A (p.Gly298Asp) single nucleotide variant Likely pathogenic rs1555412542 GRCh38 Chromosome 15, 65157910: 65157910

Expression for Protoporphyria, Erythropoietic, 2

Search GEO for disease gene expression data for Protoporphyria, Erythropoietic, 2.

Pathways for Protoporphyria, Erythropoietic, 2

GO Terms for Protoporphyria, Erythropoietic, 2

Sources for Protoporphyria, Erythropoietic, 2

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
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