Dowling-degos Disease 4; Ddd4

Table of contents:

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

Genes related to Dowling-degos Disease 4; Ddd4

POGLUT1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Dowling-degos Disease 4; Ddd4

Hyperhidrosis
Papule
Pruritus
Epidermal acanthosis
Hypergranulosis
Acantholysis

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.

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.

Dowling-degos Disease 4; Ddd4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
POGLUT1. By Institute for Human Genetics University Clinic Freiburg (Germany). POGLUT1 Specificity 100 % Genes 100 %
Genetic disorders with abnormal pigmentation Panel. By CeGaT GmbH (Germany). BLM, SLC40A1, SNAI2, SOX10, STK11, TFR2, POFUT1, HAMP, ADAM10, LYST, SPRED1, ADAR, POGLUT1, EPG5, MLPH, EDN3, EDNRB, ENPP1, ABCB6, HFE , (...) View the complete list with 12 more genes Panel complete gene list BLM, SLC40A1, SNAI2, SOX10, STK11, TFR2, POFUT1, HAMP, ADAM10, LYST, SPRED1, ADAR, POGLUT1, EPG5, MLPH, EDN3, EDNRB, ENPP1, ABCB6, HFE, HJV, KIT, KITLG, KRT14, KRT5, MITF, MYO5A, NF1, NF2, PAX3, PTPN11, RAB27A Specificity 4 % Genes 100 %
POGLUT1. By Fulgent Genetics Fulgent Genetics (United States). POGLUT1 Specificity 100 % Genes 100 %
LGMD and Congenital Muscular Dystrophy Panel. By Blueprint Genetics (Finland). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, SELENON, LIMS2, TRIM32, SPEG, SYNE1, TNPO3, FKRP, COL4A1, COL4A2, VMA21 , (...) View the complete list with 22 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, SELENON, LIMS2, TRIM32, SPEG, SYNE1, TNPO3, FKRP, COL4A1, COL4A2, VMA21, GMPPB, POGLUT1, CRYAB, TRAPPC11, POMGNT2, ANO5, DES, B3GALNT2, SMCHD1, DMD, TOR1AIP1, MEGF10, PNPLA2, DYSF, FKTN, ISPD, ITGA7, LAMA2, LARGE1, LMNA, MYH7, POMT1 Specificity 3 % Genes 100 %
Comprehensive Muscular Dystrophy / Myopathy Panel. By Blueprint Genetics (Finland). SGCA, SGCB, SGCD, SGCG, TCAP, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, DNAJB6, CAV3, MICU1, LDB3, RBCK1, SELENON, LIMS2, TRIM32 , (...) View the complete list with 53 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, DNAJB6, CAV3, MICU1, LDB3, RBCK1, SELENON, LIMS2, TRIM32, SPEG, KLHL41, SYNE1, TNPO3, FKRP, CFL2, VPS13A, COL12A1, COL4A1, COL4A2, VMA21, COL6A1, COL6A2, COL6A3, GMPPB, POGLUT1, CRYAB, TRAPPC11, POMGNT2, ANO5, DES, TMEM43, B3GALNT2, SMCHD1, DMD, TOR1AIP1, MEGF10, KLHL40, PNPLA2, TMEM126B, DYSF, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, ITGA7, LAMA2, LARGE1, LMNA, LMOD3, MME, SEPT9, MTM1, MYH7, NEB, ATP2A1, PABPN1, POLG, POMT1, BAG3 Specificity 2 % Genes 100 %
Dowling-Degos Disease Type 4 , Sequencing POGLUT1 Gene. By Reference Laboratory Genetics (Spain). POGLUT1 Specificity 100 % Genes 100 %
Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics (Spain). POFUT1, ADAM10, ADAR, POGLUT1, KRT14, KRT5 Specificity 17 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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