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 57 75 6
Epp2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
protoporphyria, erythropoietic, 2:
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM 57 618015
MedGen 42 CN248523
MeSH 44 D046351
SNOMED-CT via HPO 69 90128006

Summaries for Protoporphyria, Erythropoietic, 2

UniProtKB/Swiss-Prot : 75 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 : 57 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Protoporphyria, Erythropoietic, 2:

32
# Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 32 HP:0000992

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:

41
Skin, Liver

Publications for Protoporphyria, Erythropoietic, 2

Variations for Protoporphyria, Erythropoietic, 2

ClinVar genetic disease variations for Protoporphyria, Erythropoietic, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLPX NM_006660.4(CLPX): c.893G> A (p.Gly298Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 65450248: 65450248
2 CLPX NM_006660.4(CLPX): c.893G> A (p.Gly298Asp) single nucleotide variant Pathogenic 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 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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