Porokeratosis 1, Multiple Types; Porok1

Description

Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis.The preferred title of this entry was formerly 'Porokeratosis 1, Mibelli Type; POROK1.' Genetic Heterogeneity of PorokeratosisAlso see porokeratosis-2 (POROK2 ), mapped to chromosome 12q24; POROK3 (OMIM ), caused by mutation in the MVK gene (OMIM ) on chromosome 12q24; POROK4 (OMIM ), mapped to chromosome 15q25-q26; POROK5 (OMIM ), mapped to chromosome 1p31; POROK6 (OMIM ), mapped to chromosome 1p31; POROK7 (OMIM ), caused by mutation in the MVD gene (OMIM ) on chromosome 16q24; POROK8 (OMIM ), caused by mutation in the SLC17A9 gene (OMIM ) on chromosome 20q13; and POROK9 (OMIM ), caused by mutation in the FDPS gene (OMIM ) on chromosome 1q22.A palmoplantar form of punctate porokeratosis has also been described (PPKP2 ). Genotype/Phenotype CorrelationsZhang et al. (2015) screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified mutations in the MVK, MVD, PMVK, and FDPS genes in 113 patients. The authors noted that giant plaque-type porokeratosis ptychotropica with lesion diameters of at least 5 cm appeared to be uniquely associated with mutation in MVK; it was observed in 19 (50%) of 38 MVK probands, but not in patients with mutations in any of the other 3 genes or in the 21 probands in whom no mutation was found. MVK patients also showed the widest range in terms of the number and size of lesions, as well as presence of porokeratosis subtypes. In patients with MVD mutations, the age of onset ranged from 5 to 70 years, and lesion diameters were generally less than 2 cm. In addition, 6 of the 62 MVD probands exhibited solar facial porokeratosis, which was not seen in any other patients. Localized genital porokeratosis and porokeratoma appeared to be uniquely associated with mutation in the PMVK gene, whereas patients with mutations in the FDPS gene had more than 500 lesions, all with diameters of 1 cm or less.

Clinical Features

Top most frequent phenotypes and symptoms related to Porokeratosis 1, Multiple Types; Porok1

  • Short stature
  • Neoplasm
  • Diabetes mellitus
  • Hyperkeratosis
  • Carcinoma
  • Pruritus
  • Cutaneous photosensitivity
  • Neoplasm of the skin
  • Squamous cell carcinoma
  • Aplasia/Hypoplasia of the skin
And another 3 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Porokeratosis 1, Multiple Types; Porok1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
50 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
50 %
PMVK.

By Fulgent Genetics Fulgent Genetics in United States.

PMVK
Specificity
100 %
Genes
50 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
MVK Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MVK
Specificity
100 %
Genes
50 %
MVK Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MVK
Specificity
100 %
Genes
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
50 %
MVK.

By Institute for Human Genetics University Clinic Freiburg in Germany.

MVK
Specificity
100 %
Genes
50 %
Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
50 %
Mevalonic aciduria.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

MVK
Specificity
100 %
Genes
50 %
MEFV, TNFRSF1A, MVK, NLRP3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NLRP3, MVK, MEFV, TNFRSF1A
Specificity
25 %
Genes
50 %
MVK. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MVK
Specificity
100 %
Genes
50 %
MVK. Detection of the mutations p.Val377Ile by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MVK
Specificity
100 %
Genes
50 %
Hiper IgD syndrome (sequence analysis of MVK gene).

By CGC Genetics in Portugal.

MVK
Specificity
100 %
Genes
50 %
Hyper IgD Syndrome (deletion/duplication analysis of MVK gene).

By CGC Genetics in Portugal.

MVK
Specificity
100 %
Genes
50 %
Hyper IgD Syndrome (deletion/duplication analysis of MVK gene).

By CGC Genetics in Portugal.

MVK
Specificity
100 %
Genes
50 %
Mevalonicaciduria.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

MVK
Specificity
100 %
Genes
50 %
Hyper IgD Syndrome.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

MVK
Specificity
100 %
Genes
50 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, NLRP3, MVK, MAGT1, BLOC1S6, LYST, MEFV, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
50 %
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene.

By PreventionGenetics PreventionGenetics in United States.

MVK
Specificity
100 %
Genes
50 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NLRP3, MVK, PSMB8, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12, IL36RN, CARD14, TNFAIP3
Specificity
8 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
Periodic Fever Syndromes.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

MVK, MEFV, TNFRSF1A
Specificity
34 %
Genes
50 %
Hyper IgD Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

MVK
Specificity
100 %
Genes
50 %
Hyper IgD syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

MVK
Specificity
100 %
Genes
50 %
MVK.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MVK
Specificity
100 %
Genes
50 %
Autoinflammatory panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, LPIN2, TNFRSF1A, IL10RA, IL10RB, PSTPIP1, NLRP12, IL36RN, NCSTN, PSENEN, IL1RN, NLRP7, IL10, PLCG2
Specificity
6 %
Genes
50 %
Mevalonic aciduria.

By Centogene AG - the Rare Disease Company in Germany.

MVK
Specificity
100 %
Genes
50 %
Porokeratosis 3, disseminated superficial actinic.

By Centogene AG - the Rare Disease Company in Germany.

MVK
Specificity
100 %
Genes
50 %
Mevalonic aciduria.

By Centogene AG - the Rare Disease Company in Germany.

MVK
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
Hyper IgD Syndrome.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

MVK
Specificity
100 %
Genes
50 %
Hyper-IgD syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MVK
Specificity
100 %
Genes
50 %
Single gene testing MVK.

By CeGaT GmbH in Germany.

MVK
Specificity
100 %
Genes
50 %
Autoinflammatory diseases Panel.

By CeGaT GmbH in Germany.

HFE, NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, LPIN2, TNFRSF1A, IL10RA, IL10RB, PSTPIP1, NLRP12, IL36RN, CARD14, IL1RN, IL10, RBCK1, PLCG2
Specificity
5 %
Genes
50 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
50 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
50 %
Hyper-IgD syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MVK
Specificity
100 %
Genes
50 %
Mevalonic aciduria.

By Praxis fuer Humangenetik Wien in Austria.

MVK
Specificity
100 %
Genes
50 %
Porokeratosis 3, disseminated superficial actinic.

By Praxis fuer Humangenetik Wien in Austria.

MVK
Specificity
100 %
Genes
50 %
MVK.

By Division Human Genetics Medical University Innsbruck in Austria.

MVK
Specificity
100 %
Genes
50 %
Hyperimmunoglobulin D with periodic fever.

By Department of Clinical Immunology Odense University Hospital in Denmark.

MVK
Specificity
100 %
Genes
50 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
50 %
Hyper-IgD syndrome.

By MedGene in Slovakia.

MVK
Specificity
100 %
Genes
50 %
Mevalonic aciduria.

By MedGene in Slovakia.

MVK
Specificity
100 %
Genes
50 %
Porokeratosis 3, disseminated superficial actinic.

By MedGene in Slovakia.

MVK
Specificity
100 %
Genes
50 %
Mevalonate Kinase Deficiency.

By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute in United States.

MVK
Specificity
100 %
Genes
50 %
Invitae Periodic Fever Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, ELANE, LPIN2, TNFRSF1A, NLRC4, ADA2, PSTPIP1, NLRP12, TRNT1
Specificity
9 %
Genes
50 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, IL10RA, NLRC4, IL10RB, ADA2, PSTPIP1, NLRP12, TRNT1, IL36RN, CARD14, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel.

By Invitae in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, MVK, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Hyper-IgD syndrome (HIDS): MVK gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MVK
Specificity
100 %
Genes
50 %
Hyper-IgD syndrome (HIDS): MVK gene sequence analysis (exons 2, 9, 11).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MVK
Specificity
100 %
Genes
50 %
Periodic fever syndromes.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
50 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Hereditary Periodic Fever Syndromes: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
50 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
50 %
Periodic Fevers Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
50 %
MVK.

By Fulgent Genetics Fulgent Genetics in United States.

MVK
Specificity
100 %
Genes
50 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
50 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Congenital Diarrhea Panel.

By Blueprint Genetics in Finland.

EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Hyperimmunoglobulinemia D with periodic fever.

By Bioarray in Spain.

MVK
Specificity
100 %
Genes
50 %
Periodic Fever NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NLRP3, MVK, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12
Specificity
12 %
Genes
50 %
MVK Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MVK
Specificity
100 %
Genes
50 %
HYPER-IgD SYNDROME (MEVALONIC ACIDURIA).

By Laboratorio de Genetica Clinica SL in Spain.

MVK
Specificity
100 %
Genes
50 %
PERIODIC FEVER-APHTOUS STOMATITIS-PHARYNGITIS-ADENOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

NLRP3, MVK, MEFV, SPAG7
Specificity
25 %
Genes
50 %
Hyper IgD and Periodic Fever Syndrome, Sequencing MVK Gene.

By Reference Laboratory Genetics in Spain.

MVK
Specificity
100 %
Genes
50 %
Hyper IgD and Periodic Fever Syndrome, Sequencing Exons (2,9,11) MVK Gene.

By Reference Laboratory Genetics in Spain.

MVK
Specificity
100 %
Genes
50 %
Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

NLRP3, MVK, MEFV, NOD2, TNFRSF1A, PSTPIP1
Specificity
17 %
Genes
50 %
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
50 %
Hyperimmunoglobulin D with periodic fever.

By Labor Dr. Wisplinghoff in Germany.

MVK
Specificity
100 %
Genes
50 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ZNF513, BEST1, NEUROD1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %

Alternate names

Porokeratosis 1, Multiple Types; Porok1 Is also known as porokeratosis of mibelli;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MISMATCH REPAIR CANCER SYNDROME; MMRCS

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