EPP2
MCID: PRT135
MIFTS: 18

Protoporphyria, Erythropoietic, 2 (EPP2)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver 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 72 29 6
Epp2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity
onset in infancy
variable severity
one family has been reported (last curated june 2018)

Inheritance:
autosomal dominant


HPO:

31
protoporphyria, erythropoietic, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM® 57 618015
OMIM Phenotypic Series 57 PS177000
MeSH 44 D046351
SNOMED-CT via HPO 68 263681008 87522002 90128006

Summaries for Protoporphyria, Erythropoietic, 2

UniProtKB/Swiss-Prot : 72 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 X). Affiliated tissues include liver, and related phenotypes are iron deficiency anemia and 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) (Updated 05-Apr-2021)

Related Diseases for Protoporphyria, Erythropoietic, 2

Symptoms & Phenotypes for Protoporphyria, Erythropoietic, 2

Human phenotypes related to Protoporphyria, Erythropoietic, 2:

31
# Description HPO Frequency HPO Source Accession
1 iron deficiency anemia 31 very rare (1%) HP:0001891
2 cutaneous photosensitivity 31 HP:0000992

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Protoporphyria, Erythropoietic, 2

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

Genetic Tests for Protoporphyria, Erythropoietic, 2

Genetic tests related to Protoporphyria, Erythropoietic, 2:

# Genetic test Affiliating Genes
1 Protoporphyria, Erythropoietic, 2 29 CLPX

Anatomical Context for Protoporphyria, Erythropoietic, 2

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

40
Liver

Publications for Protoporphyria, Erythropoietic, 2

Articles related to Protoporphyria, Erythropoietic, 2:

# Title Authors PMID Year
1
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. 6 57
28874591 2017
2
SEUSS and PIF4 Coordinately Regulate Light and Temperature Signaling Pathways to Control Plant Growth. 61
29729397 2018
3
Effect of wearing a palatal plate on swallowing function. 61
19695975 2009

Variations for Protoporphyria, Erythropoietic, 2

ClinVar genetic disease variations for Protoporphyria, Erythropoietic, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLPX NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) SNV Likely pathogenic 545573 rs1555412542 GRCh37: 15:65450248-65450248
GRCh38: 15:65157910-65157910

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

72
# Symbol AA change Variation ID SNP ID
1 CLPX p.Gly298Asp VAR_081001

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