Neuronopathy, Distal Hereditary Motor, Type Viia; Hmn7a

Table of contents:

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

Description

Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1 ).

Genes related to Neuronopathy, Distal Hereditary Motor, Type Viia; Hmn7a

SLC5A7

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Clinical Features

Top most frequent phenotypes and symptoms related to Neuronopathy, Distal Hereditary Motor, Type Viia; Hmn7a

Hearing impairment
Sensorineural hearing impairment
Peripheral neuropathy
Skeletal muscle atrophy
Tremor
Hyporeflexia
Pes cavus
Difficulty walking
Paralysis
Distal muscle weakness

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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

Neuronopathy, Distal Hereditary Motor, Type Viia; Hmn7a Is also known as spinal muscular atrophy, distal, with vocal cord paralysis, neuropathy, distal hereditary motor, type viia, hmn viia, dhmn7a, harper-young myopathy, dhmnvp.

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.

Neuronopathy, Distal Hereditary Motor, Type Viia; Hmn7a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
Congenital Contractures Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...) View the complete list with 37 more genes Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN Specificity 2 % Genes 100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...) View the complete list with 58 more genes Panel complete gene list SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, BICD2, TRPV4, TDP1, FGD4, AARS, GNB4, SBF2, MYH14, DHTKD1, INF2, LRSAM1, LAS1L, REEP1, RETREG1, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, EGR2, FBLN5, GAN, GARS, GJB1, SETX, HARS, HEXA, HINT1, HK1, HOXD10, DNAJB2, HSPB1, HSPB3, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, BAG3, PRNP, PRPS1, RAB7A Specificity 2 % Genes 100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...) View the complete list with 58 more genes Panel complete gene list SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, BICD2, TRPV4, TDP1, FGD4, AARS, GNB4, SBF2, MYH14, DHTKD1, INF2, LRSAM1, LAS1L, REEP1, RETREG1, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, EGR2, FBLN5, GAN, GARS, GJB1, SETX, HARS, HEXA, HINT1, HK1, HOXD10, DNAJB2, HSPB1, HSPB3, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, BAG3, PRNP, PRPS1, RAB7A Specificity 2 % Genes 100 %
Distal hereditary motor neuropathy type VIIA (HMN7A, sequence analysis of SLC5A7 gene). By CGC Genetics (Portugal). SLC5A7 Specificity 100 % Genes 100 %
Spinal muscular atrophy (NGS panel for 21 genes). By CGC Genetics (Portugal). SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, TRPV4, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS, DNAJB2, IGHMBP2, ASAH1 , (...) View the complete list with 1 more genes Panel complete gene list SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, TRPV4, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS, DNAJB2, IGHMBP2, ASAH1, ATP7A Specificity 5 % Genes 100 %
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SYT2, SLC5A7, BSCL2, BICD2, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, DYNC1H1, HSPB8, GAN, GARS, SETX, HINT1, DNAJB2, HSPB1, HSPB3, IGHMBP2 , (...) View the complete list with 2 more genes Panel complete gene list SYT2, SLC5A7, BSCL2, BICD2, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, DYNC1H1, HSPB8, GAN, GARS, SETX, HINT1, DNAJB2, HSPB1, HSPB3, IGHMBP2, SIGMAR1, ATP7A Specificity 5 % Genes 100 %
Distal Hereditary Motor Neuropathy, Type 7A via SLC5A7 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC5A7 Specificity 100 % Genes 100 %

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Sources and references

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