Neuropathy, Hereditary Sensory, Type If; Hsn1f

Table of contents:

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

Description

Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by Kornak et al., 2014).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

Genes related to Neuropathy, Hereditary Sensory, Type If; Hsn1f

ATL3

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Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary Sensory, Type If; Hsn1f

Pain
Spasticity
Cognitive impairment
Peripheral neuropathy
Skeletal muscle atrophy
Pes cavus
Hyperkeratosis
Peripheral axonal neuropathy
Distal sensory impairment
Sensory neuropathy

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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

Neuropathy, Hereditary Sensory, Type If; Hsn1f Is also known as hsn if.

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.

Neuropathy, Hereditary Sensory, Type If; Hsn1f Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes). By CGC Genetics (Portugal). SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...) View the complete list with 54 more genes Panel complete gene list SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, ATL3, DCAF8, CTDP1, LRSAM1, REEP1, RETREG1, C12orf65, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, TYMP, EGR2, GAN, GARS, GJB1, HINT1, HK1, HOXD10, HSPB1, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MPZ, SEPT9, MTMR2, NDRG1, NEFL, NGF, NTRK1, AIFM1, PDK3, KIF1A, PHYH, PMP22, PRPS1, RAB7A Specificity 2 % Genes 100 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SCN11A, SCN9A, DST, ATL1, SPTLC1, SPTLC2, PRDM12, WNK1, CCT5, CLTCL1, ATL3, FLVCR1, RETREG1, DNMT1, ELP1, NGF, NTRK1, KIF1A, POLG, RAB7A Specificity 5 % Genes 100 %
Neuropathy. By MGZ Medical Genetics Center (Germany). SACS, SCN10A, SCN11A, SCN9A, SH3BP4, SLC12A6, SOD1, SPG11, ATL1, SPAST, SPTLC1, SPTLC2, SQSTM1, SURF1, TARDBP, TFG, TNNT2, TTR, UBQLN2, VAPB , (...) View the complete list with 101 more genes Panel complete gene list SACS, SCN10A, SCN11A, SCN9A, SH3BP4, SLC12A6, SOD1, SPG11, ATL1, SPAST, SPTLC1, SPTLC2, SQSTM1, SURF1, TARDBP, TFG, TNNT2, TTR, UBQLN2, VAPB, VCP, VRK1, YARS, AAAS, PRX, SLC5A7, ARHGEF10, WNK1, CHCHD10, BSCL2, ABHD12, NDUFAF5, GDAP1, SLC52A3, LITAF, FIG4, MFN2, CLP1, NIPA1, OPTN, BICD2, TRPV4, TDP1, FGD4, AARS, MICAL1, SBF2, COX10, KLHL13, MYH14, INF2, ATL3, FAM126A, DCAF8, CTDP1, LRSAM1, LAS1L, REEP1, RETREG1, CYP27A1, C12orf65, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, SLC52A2, TYMP, EGR2, FBLN5, FXN, FUS, GAA, GAN, GARS, GBE1, GJB1, ALS2, SETX, AMACR, HADHA, HADHB, HARS, ANG, HEXA, HINT1, HK1, DNAJB2, HSPB1, HSPB3, IFRD1, IGHMBP2, ELP1, KARS, KIF5A, LARS, LMNA, SMAD3, MARS, MATR3, MPZ, SEPT9, MTMR2, NDRG1, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDHA1, PDK3, PEX12, KIF1A, PLP1, PMP22, POLG, PRPS1, RAB7A Specificity 1 % Genes 100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel. By CeGaT GmbH (Germany). SBF1, SCN10A, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, SURF1, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12 , (...) View the complete list with 64 more genes Panel complete gene list SBF1, SCN10A, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, SURF1, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, MYH14, DHTKD1, INF2, ATL3, DCAF8, CTDP1, LRSAM1, REEP1, RETREG1, C12orf65, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, TYMP, EGR2, FBLN5, GAN, GARS, GJB1, HADHA, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MARS, MPZ, SEPT9, MTMR2, NDRG1, NEFL, NGF, NTRK1, OPA1, AIFM1, PDK3, KIF1A, PMP22, POLG, PRPS1, RAB7A Specificity 2 % Genes 100 %
Invitae Comprehensive Neuropathies Panel. By Invitae (United States). SCN11A, SCN9A, DST, SPG11, ATL1, SPTLC1, SPTLC2, TFG, TTR, UBA1, VAPB, YARS, PRX, SLC5A7, WNK1, CHCHD10, BSCL2, GDAP1, TRIM2, SLC52A3 , (...) View the complete list with 50 more genes Panel complete gene list SCN11A, SCN9A, DST, SPG11, ATL1, SPTLC1, SPTLC2, TFG, TTR, UBA1, VAPB, YARS, PRX, SLC5A7, WNK1, CHCHD10, BSCL2, GDAP1, TRIM2, SLC52A3, LITAF, FIG4, MFN2, BICD2, TRPV4, FGD4, AARS, GNB4, SBF2, MORC2, INF2, ATL3, LRSAM1, REEP1, RETREG1, DCTN1, FBXO38, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, SLC52A2, EGR2, GAN, GARS, GJB1, HARS, HINT1, DNAJB2, HSPB1, IGHMBP2, ELP1, LMNA, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, SIGMAR1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, PRPS1, RAB7A Specificity 2 % Genes 100 %
Invitae Hereditary Sensory and Autonomic Neuropathy Panel. By Invitae (United States). SCN11A, SCN9A, DST, ATL1, SPTLC1, SPTLC2, WNK1, ATL3, RETREG1, DNMT1, ELP1, NGF, NTRK1, KIF1A, RAB7A Specificity 7 % Genes 100 %
ATL3. By Fulgent Genetics Fulgent Genetics (United States). ATL3 Specificity 100 % Genes 100 %
Charcot-Marie-Tooth Neuropathy Panel. By Blueprint Genetics (Finland). SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1 , (...) View the complete list with 78 more genes Panel complete gene list SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1, CHCHD10, LDB3, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, ZFYVE26, SBF2, COX10, COX6A1, DHTKD1, GNE, INF2, ATL3, DCAF8, CTDP1, LRSAM1, SLC25A46, ATAD3A, REEP1, RETREG1, C12orf65, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, TYMP, EGR2, FBLN5, FXN, GAN, GARS, GJB1, SETX, AMACR, HADHB, HARS, HINT1, HK1, HSPB1, IGHMBP2, ELP1, KARS, KIF5A, LMNA, SMAD3, MARS, MCM3AP, MME, MPZ, SEPT9, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, POLG, BAG3, PRPS1, RAB7A Specificity 2 % Genes 100 %

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Sources and references

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