Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive; Fphh

Table of contents:

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

Description

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011).Also see familial progressive hyperpigmentation (FPH1 ).

Genes related to Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive; Fphh

KITLG

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Clinical Features

Top most frequent phenotypes and symptoms related to Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive; Fphh

Intellectual disability
Growth delay
Neoplasm
Hyperkeratosis
Hypopigmentation of the skin
Cafe-au-lait spot
Hyperpigmentation of the skin
Neoplasm of the skin
Hypopigmented skin patches
Neurofibromas

And another 6 symptoms. If you need more information about this disease we can help you.

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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

Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive; Fphh Is also known as melanosis universalis hereditaria, hyperpigmentation, familial progressive, 2, formerly, muh, fph2, formerly.

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.

Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive; Fphh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States). ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...) View the complete list with 130 more genes Panel complete gene list ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, BDP1, CDH23, CABP2, LOXL3, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, OSBPL2, STRC, CD164, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, LARS2, CDC14A, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, CRYL1, CATSPER2, SLC17A8, POLR1C, CLDN14, POLR1D, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, TBC1D24, GPSM2, PJVK, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRB, CEACAM16, GRXCR2, EPS8, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FOXI1, GATA3, ALMS1, GJB2, GJB6, HGF, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, MCM2, MET, MITF, MT-RNR1, MT-TL1, MT-TS1, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
OtoGenome Test for Hearing Loss (110 Genes). By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15 , (...) View the complete list with 89 more genes Panel complete gene list BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, OSBPL2, STRC, SLC52A3, CD164, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, LARS2, CDC14A, ADGRV1, CCDC50, GIPC3, CATSPER2, CLDN14, CHD7, CLPP, LHFPL5, DIABLO, COCH, COL11A2, COL4A3, COL4A4, COL4A5, ADCY1, MYH14, SLITRK6, CIB2, LRTOMT, CEP78, PDZD7, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, TBC1D24, GPSM2, PJVK, SLC52A2, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRB, CEACAM16, EPS8, ESRRB, EYA1, EYA4, ALMS1, GJB2, GJB6, HARS, HARS2, HGF, HSD17B4, KARS, KCNE1, KCNQ1, KCNQ4, KITLG, MITF, MT-TS1, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOF, OTOG, ATP6V1B1, PAX3, SLC26A4, SERPINB6, POU3F4, POU4F3, PRPS1, RDX Specificity 1 % Genes 100 %
Deafness, Autosomal Dominant 69 (DFNA69), and Familial Progressive Hyperpigmentation with or without Hypopigmentation via KITLG Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). KITLG Specificity 100 % Genes 100 %
Hypopigmentation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SNAI2, SOX10, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, EDN3, EDNRB, SLC38A8, HPS1 , (...) View the complete list with 10 more genes Panel complete gene list SNAI2, SOX10, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, EDN3, EDNRB, SLC38A8, HPS1, AP3B1, AP3D1, KITLG, MC1R, MITF, MYO5A, OCA2, BLOC1S6, PAX3, RAB27A Specificity 4 % 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 %
KIT D816 Mutation Analysis. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States). KITLG Specificity 100 % Genes 100 %
KITLG. By Fulgent Genetics Fulgent Genetics (United States). KITLG Specificity 100 % Genes 100 %
Neurofibromatosis Panel. By Blueprint Genetics (Finland). SMARCB1, SPRED1, KIT, KITLG, NF1, NF2, PTPN11, RAF1 Specificity 13 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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