Hirschsprung Disease

Table of contents:

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

Description

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

Genes related to Hirschsprung Disease

IHH
RET
ELP1
GLI3
SEMA3D
NRTN
GDNF
SEMA3C
ECE1
EDN3
EDNRB
SOX10
TBATA
NCLN
NUP98
DENND3

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Clinical Features

Top most frequent phenotypes and symptoms related to Hirschsprung Disease

Intellectual disability
Global developmental delay
Short stature
Hearing impairment
Microcephaly
Scoliosis
Ataxia
Neoplasm
Failure to thrive
Micrognathia

And another 45 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HIRSCHSPRUNG DISEASE have a estimated birth prevalence of 10.9 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Hirschsprung Disease Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc.

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.

Hirschsprung Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Brachydactyly type A1 (sequence analysis of IHH gene). By CGC Genetics (Portugal). IHH Specificity 100 % Genes 7 %
Brachydactyly type A1 (sequence analysis of IHH gene). By CGC Genetics (Portugal). IHH Specificity 100 % Genes 7 %
Congenital Limb Malformation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...) View the complete list with 48 more genes Panel complete gene list ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63, FIG4, CHSY1, CDH3, DOCK6, GREM1, BRIP1, FANCL, DYM, FANCM, SLX4, FANCI, PIGV, PALB2, ESCO2, DHODH, NIPBL, CEP290, RPGRIP1L, ARHGAP31, CC2D2A, KIF7, ERCC4, FANCA, FANCD2, FANCE, FANCF, FANCG, FBLN1, FGF10, FGFR2, FGFR3, FLNA, FMN1, GDF5, GLI3, GNAS, HOXD13, IHH, LRP4, MGP, MKS1, MYCN, NOG, NOTCH1, PITX1, RAD51C, RBM8A, RECQL4 Specificity 3 % Genes 13 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...) View the complete list with 236 more genes Panel complete gene list RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TGFB1, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT3, WNT5A, WNT7A, ZMPSTE24, ADAMTS10, LMBR1, HDAC8, NSDHL, IFT122, CA2, SOST, HDAC4, NSD1, RAB23, ADAMTSL2, ALX1, SNX10, SERPINH1, ANKH, XYLT1, SALL4, HES7, TP63, PCNT, RAB33B, IFITM5, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC6, CDH3, AFF4, B3GALT6, TRPV4, FKBP10, ASXL1, WDR19, PROK2, FKBP14, RIN2, DOCK6, P3H1, SBDS, CHST3, CANT1, EVC2, GREM1, POLR1C, CLCN7, SLC34A3, SMOC1, TGDS, SULF1, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, ADAMTS2, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, COL27A1, TRAPPC2, FERMT3, ZNF469, FREM1, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, CTSK, DDX59, CCDC8, TMEM38B, TTC21B, GORAB, IMPAD1, PIGV, CYP27B1, PIEZO2, CEP120, AMER1, ESCO2, DDR2, ANO5, CCNQ, EOGT, DHCR24, DHODH, NIPBL, LEMD3, IFT140, DLL3, OBSL1, ARHGAP31, WDR35, IFT80, DMP1, DYNC2H1, MESP2, TXNL4A, EFTUD2, EBP, ACAN, EFNB1, MEGF8, EIF2AK3, AGPS, ENPP1, EP300, ERF, EVC, EXT1, BHLHA9, EXT2, FBLN1, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF3, GDF5, GDF6, GHSR, GLI3, ALPL, GPC3, GPC6, ALX3, ALX4, RIPK4, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, RBPJ, IHH, INPPL1, IRF6, KIF22, LBR, COG1, LFNG, LIFR, LMX1B, LRP4, LRP5, MATN3, MEOX1, MGP, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NFIX, NOG, NPPC, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, PDE4D, SERPINF1, PEX7, PHEX, PITX1, PLOD1, PLOD2, PLS3, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTDSS1, PTHLH, PTH1R, RAD21, RASGRP2, RECQL4 Specificity 1 % Genes 13 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 7 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 7 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 7 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel. By CeGaT GmbH (Germany). ROR2, TRPS1, WNT5A, IFT122, ADAMTSL2, DDR2, IFT140, WDR35, ZSWIM6, IFT43, FBN1, FGFR3, GDF5, GPC6, GSC, IHH, NPR2, PDE4D, PRKAR1A Specificity 6 % Genes 7 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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