- Diseases
- Dowling-Degos disease
Dowling-Degos disease
Name: |
Dowling-Degos disease
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Description: |
A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.
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ORPHAcode: |
79145
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Synonyms: |
Reticular pigment anomaly of flexures
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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Ichthyosis and erythroderma (98 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA12 95.00 0 NM_173076.3 ABHD5 95.00 0 NM_016006.6 ADAM17 95.00 0 NM_003183.6 ALDH3A2 95.00 0 NM_000382.3 ALOX12B 95.00 0 NM_001139.3 ALOXE3 95.00 0 NM_021628.3 AP1B1 95.00 0 NM_001127.4 AP1S1 95.00 0 NM_001283.5 ASPRV1 95.00 0 NM_152792.4 ASS1 95.00 0 NM_000050.4 ATP7A 95.00 0 NM_000052.7 BCKDHA 95.00 0 NM_000709.4 BCKDHB 95.00 0 NM_183050.4 BTD 95.00 0 NM_001370658.1 BTK 95.00 0 NM_000061.3 CAPN12 95.00 0 NM_144691.4 CARD14 95.00 0 NM_024110.4 CASP14 95.00 0 NM_012114.3 CAST 95.00 0 NM_001042440.5 CDSN 95.00 0 NM_001264.5 CERS3 95.00 0 NM_178842.5 CHST8 95.00 0 NM_001127896.2 CLDN1 95.00 0 NM_021101.5 CPS1 95.00 0 NM_001875.5 CSTA 95.00 0 NM_005213.4 CTSB 95.00 0 NM_001908.5 CYP4F22 95.00 0 NM_173483.4 DBT 95.00 0 NM_001918.5 DCLRE1C 95.00 0 NM_001033855.3 DLD 95.00 0 NM_000108.5 DSG1 95.00 0 NM_001942.4 EBP 95.00 0 NM_006579.3 ELOVL1 95.00 0 NM_001256399.2 ELOVL4 95.00 0 NM_022726.4 ERCC2 95.00 0 NM_000400.4 ERCC3 95.00 0 NM_000122.2 FLG 95.00 0 NM_002016.2 FLG2 95.00 0 NM_001014342.3 GBA1 95.00 0 NM_001005741.3 GJA1 95.00 0 NM_000165.5 GJB2 95.00 0 NM_004004.6 GJB3 95.00 0 NM_024009.3 GJB4 95.00 0 NM_153212.3 GJB6 95.00 0 NM_006783.5 GTF2E2 95.00 0 NM_002095.6 GTF2H5 95.00 0 NM_207118.3 HLCS 95.00 0 NM_000411.8 IL36RN 95.00 0 NM_012275.3 KDSR 95.00 0 NM_002035.4 KIT 95.00 0 NM_000222.3 KRT1 95.00 0 NM_006121.4 KRT10 95.00 0 NM_000421.5 KRT14 95.00 0 NM_000526.5 KRT16 95.00 0 NM_005557.4 KRT2 95.00 0 NM_000423.3 KRT5 95.00 0 NM_000424.4 KRT6C 95.00 0 NM_173086.5 KRT83 95.00 0 NM_002282.3 KRT9 95.00 0 NM_000226.4 LIPN 95.00 0 NM_001102469.2 LORICRIN 95.00 0 NM_000427.3 MBTPS2 95.00 0 NM_015884.4 MPLKIP 95.00 0 NM_138701.4 MMUT 95.00 0 NM_000255.4 NIPAL4 95.00 0 NM_001099287.2 NSDHL 95.00 0 NM_015922.3 PCCA 95.00 0 NM_000282.4 PCCB 95.00 0 NM_000532.5 PERP 95.00 0 NM_022121.5 PEX7 95.00 0 NM_000288.4 PHYH 95.00 0 NM_006214.4 PIGL 95.00 0 NM_004278.4 PNPLA1 95.00 0 NM_001145717.1 POMP 95.00 0 NM_015932.6 RAG1 95.00 0 NM_000448.3 RAG2 95.00 0 NM_000536.4 RNF113A 95.00 0 NM_006978.3 SDR9C7 95.00 0 NM_148897.3 SERPINB7 95.00 0 NM_003784.4 SERPINB8 95.00 0 NM_198833.2 SGPL1 95.00 0 NM_003901.4 SLC25A13 95.00 0 NM_014251.3 SLC27A4 95.00 0 NM_005094.4 SLC30A2 95.00 0 NM_001004434.3 SLC39A4 95.00 0 NM_130849.4 SNAP29 95.00 0 NM_004782.4 SPINK5 95.00 0 NM_006846.4 SREBF1 95.00 0 NM_004176.5 ST14 95.00 0 NM_021978.4 STS 95.00 0 NM_000351.7 SULT2B1 95.00 0 NM_177973.2 SUMF1 95.00 0 NM_182760.4 TBX1 95.00 0 NM_080647.1 TGM1 95.00 0 NM_000359.3 TGM5 95.00 0 NM_201631.4 TRPM4 95.00 0 NM_017636.4 VIPAS39 95.00 0 NM_022067.4 VPS33B 95.00 0 NM_018668.5 -
Periodic Fever (88 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACP5 0.00 0 , ADAM17 0.00 0 , ADAR 0.00 0 , AP1S3 0.00 0 , CARD14 0.00 0 , CASP1 0.00 0 , CASP10 0.00 0 , CDC42 0.00 0 , CEBPE 0.00 0 , ADA2 0.00 0 , COPA 0.00 0 , RIGI 0.00 0 , DNASE2 0.00 0 , DOCK8 0.00 0 , ELF4 0.00 0 , ADGRE2 0.00 0 , F12 0.00 0 , OTULIN 0.00 0 , FAS 0.00 0 , FASLG 0.00 0 , FBLIM1 0.00 0 , HMOX1 0.00 0 , IFIH1 0.00 0 , IKBKG 0.00 0 , IL10 0.00 0 , IL10RA 0.00 0 , IL10RB 0.00 0 , IL1RN 0.00 0 , IL36RN 0.00 0 , LACC1 0.00 0 , LPIN2 0.00 0 , LSM11 0.00 0 , LYN 0.00 0 , MDFIC 0.00 0 , MEFV 0.00 0 , MVK 0.00 0 , NCKAP1L 0.00 0 , NCSTN 0.00 0 , NLRC4 0.00 0 , NLRP1 0.00 0 , NLRP12 0.00 0 , NLRP3 0.00 0 , NLRP7 0.00 0 , NOD2 0.00 0 , PLCG2 0.00 0 , POLA1 0.00 0 , POMP 0.00 0 , PSENEN 0.00 0 , PSMA3 0.00 0 , PSMB10 0.00 0 , PSMB4 0.00 0 , PSMB8 0.00 0 , PSMB9 0.00 0 , PSMG2 0.00 0 , PSTPIP1 0.00 0 , PTEN 0.00 0 , PYCARD 0.00 0 , RBCK1 0.00 0 , RELA 0.00 0 , RIPK1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNF213 0.00 0 , RNF31 0.00 0 , RNU7-1 0.00 0 , SAMD9L 0.00 0 , SAMHD1 0.00 0 , SERPING1 0.00 0 , SH3BP2 0.00 0 , SHARPIN 0.00 0 , SLC29A3 0.00 0 , STAT2 0.00 0 , SYK 0.00 0 , STING1 0.00 0 , TNFAIP3 0.00 0 , TNFRSF11A 0.00 0 , TNFRSF1A 0.00 0 , TNFRSF9 0.00 0 , TRAP1 0.00 0 , TREX1 0.00 0 , TRNT1 0.00 0 , UBA1 0.00 0 , UNC13B 0.00 0 , USP18 0.00 0 , WAS 0.00 0 , WDR1 0.00 0 , XIAP 0.00 0 ,