Protoporphyria, Erythropoietic, X-linked; Xlepp

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (OMIM ).

Genes related to Protoporphyria, Erythropoietic, X-linked; Xlepp

ALAS2

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Clinical Features

Phenotypes and symptoms related to Protoporphyria, Erythropoietic, X-linked; Xlepp

Anemia
Elevated hepatic transaminase
Abnormality of the liver
Cutaneous photosensitivity
Cholelithiasis
Iron deficiency anemia
Severe photosensitivity
Increased erythrocyte protoporphyrin concentration

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Protoporphyria, Erythropoietic, X-linked; Xlepp Is also known as protoporphyria, erythropoietic, x-linked dominant, xldpp, erythrohepatic protoporphyria, x-linked.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Protoporphyria, Erythropoietic, X-linked; Xlepp Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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Hemolytic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...) View the complete list with 16 more genes Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KCNN4, KLF1, KIF23, PFKM, PGK1, PKLR Specificity 3 % Genes 100 %
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SEC23B, LPIN2, CDAN1, C15orf41, ALAS2, GATA1, KLF1, KIF23 Specificity 13 % Genes 100 %
ALAS2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ALAS2 Specificity 100 % Genes 100 %
Inherited Bone Marrow Failure Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...) View the complete list with 41 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L, NHP2, NOP10, VPS45, RTEL1, HAX1, POT1, SBDS, BRIP1, FANCL, SBF2, FANCM, SLX4, CSF3R, G6PC3, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MPL, PARN, RAD51C, RBM8A Specificity 2 % Genes 100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...) View the complete list with 58 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS, IKZF1, SAMD9, SAMD9L, NHP2, NOP10, VPS45, CBL, RTEL1, HAX1, POT1, CEBPA, SBDS, BRIP1, FANCL, SBF2, SLX4, CSF3R, G6PC3, UBE2T, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ANKRD26, ELANE, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MLH1, MPL, MSH2, MSH6, NBN, NF1, ATM, PARN, PAX5, PMS2, PTPN11, RAD51, RAD51C, RBM8A Specificity 2 % Genes 100 %
Hyperferritinemia Panel. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). SEC23B, SLC40A1, TF, TFR2, HAMP, CDAN1, CP, STEAP3, SLC25A38, ALAS2, FTH1, FTL, HFE, HJV, B2M Specificity 7 % Genes 100 %
X-linked sideroblastic anemia (sequence analysis of ALAS2 gene). By CGC Genetics (Portugal). ALAS2 Specificity 100 % Genes 100 %

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Sources and references

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