Dowling-degos Disease 4; Ddd4
Table of contents:
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
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
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
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 % |
You can get up to -1 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA 40; SCA40 RETINITIS PIGMENTOSA 69; RP69 REVESZ SYNDROME MULTIPLE OSTEOCHONDROMAS CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W; CMT2W GRACILE BONE DYSPLASIA; GCLEB ATRANSFERRINEMIA