MCID: HRS035
MIFTS: 58

Hirschsprung Disease 1

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Hirschsprung Disease 1

MalaCards integrated aliases for Hirschsprung Disease 1:

Name: Hirschsprung Disease 1 54 50 71 29 69
Hirschsprung Disease 12 23 24 25 56 29 52 42 69
Aganglionic Megacolon 12 23 50 24 25 56 71 29
Hscr 23 50 24 25 56
Hirschsprung's Disease 12 50 25 14
Congenital Intestinal Aganglionosis 25 56 69
Total Intestinal Aganglionosis 12 52
Colonic Aganglionosis 71 52
Congenital Megacolon 12 25
Hirschsprung Disease, Susceptibility to, 1 13
Near-Total Intestinal Aganglionosis 50
Rare Form of Hirschsprung's Disease 50
Aganglionosis, Total Intestinal 50
Congenital Dilatation of Colon 69
Aganglionosis, Total Colonic 50
Hirschsprung Disease Type 1 50
Pelvirectal Achalasia 12
Macrocolon 12
Hscr 1 50
Hscr1 71
Ntia 50
Tia 50
Mgc 71

Characteristics:

Orphanet epidemiological data:

56
hirschsprung disease
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-9/100000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (Ukraine),1-5/10000 (Europe),1-9/100000 (Austria),1-5/10000 (Malta),1-5/10000 (Norway),1-5/10000 (United Kingdom); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
male predominance of 3:1 to 5:1
familial (10%) and isolated cases


HPO:

32

Classifications:



Summaries for Hirschsprung Disease 1

NIH Rare Diseases : 50 hirschsprung disease (hscr) is a disease of the large intestine or colon. people with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. symptoms of hirschsprung disease usually start in very young children, but may occur later. the symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. there are two main types of hirschsprung disease, known as short-segment disease and long-segment disease, defined by the region of the intestine lacking nerve cells (aganglionic segments). hscr is considered a neurocristopathy, a disorder of cells and tissues derived from the neural crest, (a group of embryonic cells of the neural tube that forms several structures, of the body). hscr may occur as an isolated finding or as part of a another disorder. isolated hscr is associated with mutations in several genes. treatment is with surgery, removing the aganglionic intestinal segment.   last updated: 9/4/2017

MalaCards based summary : Hirschsprung Disease 1, also known as hirschsprung disease, is related to hirschsprung disease, cardiac defects, and autonomic dysfunction and hirschsprung disease with type d brachydactyly, and has symptoms including short stature, diarrhea and intellectual disability. An important gene associated with Hirschsprung Disease 1 is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are GDNF-Family Ligands and Receptor Interactions and Neural Crest Differentiation. The drugs Vaccines and Lactulose have been mentioned in the context of this disorder. Affiliated tissues include colon, heart and thyroid, and related phenotypes are behavior/neurological and mortality/aging

Disease Ontology : 12 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Genetics Home Reference : 25 Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.

OMIM : 54
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. (142623)

UniProtKB/Swiss-Prot : 71 Hirschsprung disease 1: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.

GeneReviews: NBK1439

Related Diseases for Hirschsprung Disease 1

Diseases in the Hirschsprung Disease 1 family:

Hirschsprung Disease 6 Hirschsprung Disease 9
Hirschsprung Disease 3 Hirschsprung Disease 5
Hirschsprung Disease 2 Hirschsprung Disease 8
Hirschsprung Disease 7 Hirschsprung Disease 4
Ece1-Related Hirschsprung Disease Edn3-Related Hirschsprung Disease
Ednrb-Related Hirschsprung Disease Gdnf-Related Hirschsprung Disease
Nrtn-Related Hirschsprung Disease Ret-Related Hirschsprung Disease

Diseases related to Hirschsprung Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
id Related Disease Score Top Affiliating Genes
1 hirschsprung disease, cardiac defects, and autonomic dysfunction 12.2
2 hirschsprung disease with type d brachydactyly 12.2
3 transient cerebral ischemia 11.8
4 hirschsprung disease 2 11.7
5 mini stroke 11.6
6 moyamoya disease 11.3
7 hirschsprung disease 8 11.0
8 hirschsprung disease 7 11.0
9 hirschsprung disease 4 11.0
10 ichthyosis follicularis atrichia photophobia syndrome 11.0
11 ifap syndrome with or without bresheck syndrome 11.0
12 hirschsprung disease 6 11.0
13 hirschsprung disease 9 11.0
14 hirschsprung disease 3 11.0
15 hirschsprung disease 5 11.0
16 wallerian degeneration 10.9 EDN3 EDNRB SOX10
17 diabetes mellitus, noninsulin-dependent, 5 10.9 EDN3 EDNRB RET SOX10
18 waardenburg syndrome, type 3 10.9 EDN3 PAX3 SOX10
19 shprintzen-goldberg syndrome 10.9 EDN3 EDNRB GDNF RET
20 intestinal pseudoobstruction, neuronal 10.9
21 melanoma, cutaneous malignant 8 10.9 EDN3 PAX3 SOX10
22 central hypoventilation syndrome, congenital 10.8 EDNRB GDNF GFRA1 RET
23 megalocytic interstitial nephritis 10.8 GDNF RET
24 hypogonadotropic hypogonadism without anosmia, x-linked 10.8 ACHE GDNF RET SYP
25 multiple endocrine neoplasia iib 10.8 GDNF GFRA1 RET
26 biliary papillomatosis 10.8 EDN3 EDNRB PAX3 SOX10
27 deafness, mitochondrial, modifier of 10.8 EDNRB SOX10
28 hidrocystoma 10.8 L1CAM SOX10 SYP
29 medullary thyroid carcinoma, familial 10.8 EDNRB GDNF GFRA1 RET
30 bladder cancer, childhood 10.8 ACHE SYP VIP
31 sweat gland cancer 10.8 EDNRB GDNF RET VIP
32 cavernous hemangioma 10.8 RET SYP VIP
33 dyschromatosis symmetrica hereditaria 10.8 EDN3 PAX3 SOX10
34 stroke, ischemic 10.8
35 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 10.8
36 tyrosinemia 10.7 EDN3 EDNRB PAX3 RET SOX10
37 nonsyndromic congenital nail disorder 2 10.7 ACHE GFRA1
38 paralytic ileus 10.7 ACHE EDN3 EDNRB GDNF NRTN RET
39 postmenopausal atrophic vaginitis 10.7 PHOX2B SYP VIP
40 cystadenoma 10.7 PHOX2B SYP VIP
41 pheochromocytoma 10.6 GDNF RET SYP VIP
42 parkinson disease, late-onset 10.6 ACHE GDNF GFRA1 NRTN PSPN
43 autoinflammation with infantile enterocolitis 10.6 ACHE RET
44 megacolon 10.6
45 benign shuddering attacks 10.5 RET SYP VIP
46 mowat-wilson syndrome 10.4 EDNRB ZEB2
47 wolffian duct adenocarcinoma 10.3 ACHE EDN3 EDNRB GDNF GFRA1 NRTN
48 spinal meningioma 10.2 ACHE EDN3 EDNRB GDNF NRTN PHOX2B
49 piebaldism 10.1
50 cerebritis 10.0

Graphical network of the top 20 diseases related to Hirschsprung Disease 1:



Diseases related to Hirschsprung Disease 1

Symptoms & Phenotypes for Hirschsprung Disease 1

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
vomiting
constipation
abdominal distention
barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel
enterocolitis
more
Laboratory- Abnormalities:
absent enteric ganglia beginning at the rectum and extends proximally by varying degrees
acetylcholinesterase staining reveals nerve trunk hypertrophy


Clinical features from OMIM:

142623

Human phenotypes related to Hirschsprung Disease 1:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 diarrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002014
3 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 constipation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002019
5 abdominal pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002027
6 intestinal obstruction 56 32 hallmark (90%) Very frequent (99-80%) HP:0005214
7 weight loss 56 32 frequent (33%) Frequent (79-30%) HP:0001824
8 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
9 sepsis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100806
10 aganglionic megacolon 56 32 hallmark (90%) Very frequent (99-80%) HP:0002251
11 failure to thrive in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001531
12 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
13 adducted thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0001181
14 intestinal polyposis 56 32 occasional (7.5%) Occasional (29-5%) HP:0200008
15 neoplasm of the thyroid gland 56 32 occasional (7.5%) Occasional (29-5%) HP:0100031
16 vomiting 32 HP:0002013
17 abdominal distention 32 HP:0003270
18 enterocolitis 32 HP:0004387
19 functional abnormality of the gastrointestinal tract 56 Very frequent (99-80%)
20 abnormality of enteric ganglion morphology 32 HP:0004362
21 total intestinal aganglionosis 32 HP:0005241

MGI Mouse Phenotypes related to Hirschsprung Disease 1:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ACHE EDN3 EDNRB GDNF GFRA1 L1CAM
2 mortality/aging MP:0010768 10.33 KCNN3 L1CAM PAX3 PHOX2B RET SEMA3C
3 nervous system MP:0003631 10.33 EDN3 EDNRB GDNF GFRA1 KCNN3 L1CAM
4 embryo MP:0005380 10.18 PAX3 PHOX2B RET SEMA3C SOX10 ZEB2
5 cardiovascular system MP:0005385 10.16 ECE1 EDNRB GDNF PAX3 PHOX2B RET
6 digestive/alimentary MP:0005381 10.15 ECE1 EDN3 EDNRB GDNF GFRA1 NRTN
7 muscle MP:0005369 10.03 ACHE ECE1 EDNRB GDNF GFRA1 NRTN
8 normal MP:0002873 9.92 ECE1 GFRA1 PAX3 PHOX2B RET SOX10
9 no phenotypic analysis MP:0003012 9.91 ACHE KCNN3 L1CAM PAX3 RET SEMA3D
10 pigmentation MP:0001186 9.8 ECE1 EDN3 EDNRB L1CAM PAX3 SEMA3C
11 reproductive system MP:0005389 9.76 ACHE GDNF KCNN3 L1CAM NRTN RET
12 respiratory system MP:0005388 9.56 EDNRB KCNN3 PAX3 PHOX2B RET SOX10
13 vision/eye MP:0005391 9.23 PHOX2B ZEB2 ACHE ECE1 EDNRB L1CAM

Drugs & Therapeutics for Hirschsprung Disease 1

Drugs for Hirschsprung Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Lactulose Approved 4618-18-2 11333
3 Gastrointestinal Agents
4 Micronutrients
5 Pharmaceutical Solutions
6 Trace Elements
7 Vitamins
8 Anesthetics
9 Cola Nutraceutical Early Phase 1
10 lysine Nutraceutical

Interventional clinical trials:

(show all 20)

id Name Status NCT ID Phase Drugs
1 Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis Recruiting NCT02343562 Phase 4
2 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
3 Endoscopic Mucosal Resection (EMR) for Diagnosis of Hirschsprung's Disease Unknown status NCT00671684 Phase 1, Phase 2
4 Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC) Completed NCT00630838 Phase 2 VSL#3;Placebo
5 A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective Study Unknown status NCT02216994 high dose lactulose;paraffin oil
6 Fast-track Surgery in the Treatment of Hirschsprung's Disease Unknown status NCT02350088 probiotics;placebo
7 Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled Trial Unknown status NCT02234219 Probiotics
8 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Unknown status NCT02296008
9 A Trial on Conservative Treatment for Infants' Hirschsprung Disease Completed NCT01985646 Early Phase 1 oral probiotic
10 A Trial on Probiotics in Preventing Hirschsprung's Disease Associated Entercolitis Completed NCT01934959 Early Phase 1 Bifico
11 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
12 Hirschsprung Disease Genetic Study Recruiting NCT00478712
13 Enhanced Recovery After Surgery In Hirschsprung Disease Recruiting NCT02776176
14 Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease Recruiting NCT02193685
15 Genetic Mosaicism in Hirschsprung's Disease Recruiting NCT01927809
16 MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitis Recruiting NCT02857205
17 Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) Recruiting NCT01515501
18 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020
19 Electrophysiological Activity of the Anorectum in Children Suspected of Hirschsprung Disease Not yet recruiting NCT02342457
20 Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease Not yet recruiting NCT03269812

Search NIH Clinical Center for Hirschsprung Disease 1

Cochrane evidence based reviews: hirschsprung disease

Genetic Tests for Hirschsprung Disease 1

Genetic tests related to Hirschsprung Disease 1:

id Genetic test Affiliating Genes
1 Hirschsprung Disease 29 24 RET
2 Hirschsprung Disease 1 29
3 Aganglionic Megacolon 29

Anatomical Context for Hirschsprung Disease 1

MalaCards organs/tissues related to Hirschsprung Disease 1:

39
Colon, Heart, Thyroid

Publications for Hirschsprung Disease 1

Variations for Hirschsprung Disease 1

UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 1:

71 (show top 50) (show all 67)
id Symbol AA change Variation ID SNP ID
1 RET p.Ser32Leu VAR_006295 rs76764689
2 RET p.Pro64Leu VAR_006296 rs77596424
3 RET p.Cys142Ser VAR_006298
4 RET p.Arg231His VAR_006299 rs79661516
5 RET p.Glu251Lys VAR_006300 rs562449603
6 RET p.Arg287Gln VAR_006301
7 RET p.Arg330Gln VAR_006302 rs80236571
8 RET p.Phe393Leu VAR_006303 rs78098482
9 RET p.Pro399Leu VAR_006304
10 RET p.Arg475Gln VAR_006305 rs138624658
11 RET p.Cys609Tyr VAR_006306 rs77939446
12 RET p.Cys609Trp VAR_006307 rs377767396
13 RET p.Cys618Arg VAR_006311 rs76262710
14 RET p.Cys618Ser VAR_006313 rs79781594
15 RET p.Cys620Arg VAR_006316 rs77316810
16 RET p.Ser690Pro VAR_006331
17 RET p.Ser767Arg VAR_006334
18 RET p.Arg873Gln VAR_006338
19 RET p.Phe893Leu VAR_006339
20 RET p.Arg897Gln VAR_006340 rs76087194
21 RET p.Lys907Glu VAR_006341 rs377767430
22 RET p.Glu921Lys VAR_006343
23 RET p.Arg972Gly VAR_006346 rs76534745
24 RET p.Pro973Leu VAR_006347
25 RET p.Met980Thr VAR_006348
26 RET p.Pro20Leu VAR_009459
27 RET p.Arg77Cys VAR_009460
28 RET p.Phe174Ser VAR_009462
29 RET p.Arg180Pro VAR_009463
30 RET p.Cys197Tyr VAR_009464
31 RET p.Arg313Gln VAR_009465 rs77702891
32 RET p.Arg360Trp VAR_009467
33 RET p.Asn394Lys VAR_009468
34 RET p.Cys620Trp VAR_009475 rs79890926
35 RET p.Gln626Lys VAR_009476
36 RET p.Glu762Gln VAR_009481
37 RET p.Tyr791Phe VAR_009483 rs77724903
38 RET p.Arg813Gln VAR_009484
39 RET p.Leu1061Pro VAR_009490 rs536486113
40 RET p.Met1064Thr VAR_009491 rs149513065
41 RET p.Leu40Pro VAR_009492
42 RET p.Ser765Pro VAR_009493 rs75075748
43 RET p.Arg114His VAR_018154 rs76397662
44 RET p.Val145Gly VAR_035711
45 RET p.Arg114Cys VAR_067101 rs747483905
46 RET p.Pro155Leu VAR_067102
47 RET p.Arg175Pro VAR_067103
48 RET p.Thr278Ala VAR_067104 rs541929171
49 RET p.Thr278Pro VAR_067105
50 RET p.Asp300Asn VAR_067106

ClinVar genetic disease variations for Hirschsprung Disease 1:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
2 RET NM_020975.4(RET): c.2293T> C (p.Ser765Pro) single nucleotide variant risk factor rs75075748 GRCh37 Chromosome 10, 43613829: 43613829
3 RET NM_020975.4(RET): c.406G> T (p.Glu136Ter) single nucleotide variant risk factor rs79014735 GRCh37 Chromosome 10, 43597858: 43597858
4 RET RET, 1-BP DEL, G1120 deletion risk factor
5 RET NM_020975.4(RET): c.2690G> A (p.Arg897Gln) single nucleotide variant risk factor rs76087194 GRCh37 Chromosome 10, 43615611: 43615611
6 RET NM_020975.4(RET): c.2914A> G (p.Arg972Gly) single nucleotide variant risk factor rs76534745 GRCh37 Chromosome 10, 43619231: 43619231
7 RET NM_020975.4(RET): c.95C> T (p.Ser32Leu) single nucleotide variant risk factor rs76764689 GRCh37 Chromosome 10, 43595928: 43595928
8 RET NM_020975.4(RET): c.191C> T (p.Pro64Leu) single nucleotide variant risk factor rs77596424 GRCh37 Chromosome 10, 43596024: 43596024
9 RET NM_020975.4(RET): c.538C> T (p.Arg180Ter) single nucleotide variant risk factor rs76449634 GRCh37 Chromosome 10, 43597990: 43597990
10 RET NM_020975.4(RET): c.989G> A (p.Arg330Gln) single nucleotide variant risk factor rs80236571 GRCh37 Chromosome 10, 43601945: 43601945
11 RET NM_020975.4(RET): c.1179C> A (p.Phe393Leu) single nucleotide variant risk factor rs78098482 GRCh37 Chromosome 10, 43604594: 43604594
12 RET NM_020975.4(RET): c.938G> A (p.Arg313Gln) single nucleotide variant risk factor rs77702891 GRCh37 Chromosome 10, 43601894: 43601894
13 RET NM_020975.4(RET): c.692G> A (p.Arg231His) single nucleotide variant risk factor rs79661516 GRCh37 Chromosome 10, 43600466: 43600466
14 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
15 RET NM_020975.4(RET): c.1941C> T (p.Ile647=) single nucleotide variant risk factor rs75225191 GRCh37 Chromosome 10, 43609989: 43609989
16 RET NM_020975.4(RET): c.135G> A (p.Ala45=) single nucleotide variant risk factor rs1800858 GRCh37 Chromosome 10, 43595968: 43595968
17 RET NM_020630.4(RET): c.73+9277T> C single nucleotide variant risk factor rs2435357 GRCh37 Chromosome 10, 43582056: 43582056
18 RET NM_020630.4(RET): c.1880-2A> G single nucleotide variant Likely pathogenic rs193922699 GRCh37 Chromosome 10, 43609926: 43609926
19 SOX10 NM_001301131.1(POLR2F): c.294-27388_*10734del deletion Pathogenic GRCh38 Chromosome 22, 38013680: 38051826
20 SOX10 NM_001301130.1(POLR2F): c.453-24294G> C single nucleotide variant Likely pathogenic rs533778281 GRCh37 Chromosome 22, 38412781: 38412781
21 SOX10 NM_001301130.1(POLR2F): c.453-24860G> A single nucleotide variant Likely pathogenic rs606231342 GRCh38 Chromosome 22, 38016208: 38016208
22 TBATA NM_152710.3(TBATA): c.157C> T (p.Arg53Cys) single nucleotide variant Likely pathogenic rs759944122 GRCh37 Chromosome 10, 72541677: 72541677
23 NCLN NM_001321463.1(NCLN): c.496C> T (p.Gln166Ter) single nucleotide variant Likely pathogenic rs1057519322 GRCh37 Chromosome 19, 3193402: 3193402
24 NUP98 NM_139132.3(NUP98): c.4985A> G (p.Asn1662Ser) single nucleotide variant Likely pathogenic rs1057519323 GRCh37 Chromosome 11, 3697585: 3697585
25 DENND3 NM_014957.2(DENND3): c.1920delG (p.Lys640Asnfs) deletion Likely pathogenic rs1057519052 GRCh37 Chromosome 8, 142178509: 142178509

Copy number variations for Hirschsprung Disease 1 from CNVD:

7 (show top 50) (show all 71)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 18951 1 148000000 149600000 Copy number SYT11 Hirschsprung''s Disease
2 20073 1 15300000 153300000 Copy number MLLT11 Hirschsprung''s Disease
3 21744 1 16100000 27800000 Copy number ECE1 Hirschsprung''s Disease
4 27738 1 212100000 222100000 Copy number TGFB2 Hirschsprung''s Disease
5 31489 1 27800000 30000000 Copy number PHACTR4 Hirschsprung''s Disease
6 32195 1 34400000 46500000 Copy number ELAVL4 Hirschsprung''s Disease
7 39756 10 119100000 121700000 Copy number GFRA1 Hirschsprung''s Disease
8 40003 10 123100000 127400000 Copy number HMX3 Hirschsprung''s Disease
9 40580 10 130500000 135374737 Copy number EBF3 Hirschsprung''s Disease
10 42900 10 42100000 53300000 Copy number RET Hirschsprung''s Disease
11 42990 10 42892522 42945803 Copy number RET Hirschsprung''s Disease
12 42991 10 42892522 42945803 Copy number RET Hirschsprung''s Disease
13 45473 10 71300000 74600000 Copy number KIAA1279 Hirschsprung''s Disease
14 46634 10 83625076 84735341 Deletion NRG3 Hirschsprung''s disease
15 50018 11 112800000 115400000 Copy number CADM1 Hirschsprung''s Disease
16 54386 11 43400000 52900000 Copy number GNG3 Hirschsprung''s Disease
17 58336 11 67100000 69200000 Copy number PHOX2A Hirschsprung''s Disease
18 61617 12 100000000 102400000 Copy number ASCL1 Hirschsprung''s Disease
19 62272 12 107500000 112800000 Copy number TBX3 Hirschsprung''s Disease
20 67116 12 36500000 56300000 Copy number PRPH Hirschsprung''s Disease
21 76415 13 31100000 39500000 Copy number MAB21L1 Hirschsprung''s Disease
22 79452 13 72100000 77800000 Copy number EDNRB Hirschsprung''s Disease
23 80534 13 93800000 100500000 Copy number ZIC2 Hirschsprung''s Disease
24 84987 14 36900000 48300000 Copy number GNG2 Hirschsprung''s Disease
25 92697 15 42700000 55800000 Copy number SCG3 Hirschsprung''s Disease
26 106264 16 87200000 88827254 Copy number TUBB3 Hirschsprung''s Disease
27 111276 17 35400000 35600000 Copy number MAPT Hirschsprung''s Disease
28 112061 17 37800000 47600000 Copy number HOXB5 Hirschsprung''s Disease
29 119804 18 17300000 23300000 Copy number CDH2 Hirschsprung''s Disease
30 124157 19 1 6900000 Copy number NRTN Hirschsprung''s Disease
31 137403 2 144700000 148400000 Copy number ZFHX1B Hirschsprung''s Disease
32 138713 2 169500000 177700000 Copy number HOXD4 Hirschsprung''s Disease
33 139529 2 182700000 197100000 Copy number DLX1 Hirschsprung''s Disease
34 140088 2 191600000 197100000 Copy number TMEFF2 Hirschsprung''s Disease
35 154860 20 49200000 62435964 Copy number EDN3 Hirschsprung''s Disease
36 155271 20 54400000 62435964 Copy number STMN3 Hirschsprung''s Disease
37 155663 20 57308893 57334442 Copy number EDN3 Hirschsprung''s Disease
38 158147 21 30500000 34700000 Copy number IFNGR2 Hirschsprung''s Disease
39 158148 21 30500000 34700000 Copy number IL10RB Hirschsprung''s Disease
40 158149 21 30500000 34700000 Copy number SOD1 Hirschsprung''s Disease
41 158150 21 30500000 34700000 Copy number SON Hirschsprung''s Disease
42 158780 21 36700000 38600000 Copy number CBR1 Hirschsprung''s Disease
43 158927 21 38600000 41400000 Copy number TTC3 Hirschsprung''s Disease
44 159193 21 41400000 46944323 Copy number CSTB Hirschsprung''s Disease
45 159196 21 41400000 46944323 Copy number PFKL Hirschsprung''s Disease
46 159198 21 41400000 46944323 Copy number TFF3 Hirschsprung''s Disease
47 164253 22 35900000 39300000 Copy number SOX10 Hirschsprung''s Disease
48 166121 3 1 74200000 Copy number ARHGEF3 Hirschsprung''s Disease
49 167059 3 112800000 115000000 Copy number TAGLN3 Hirschsprung''s Disease
50 170885 3 161200000 169200000 Copy number SERPINI1 Hirschsprung''s Disease

Expression for Hirschsprung Disease 1

Search GEO for disease gene expression data for Hirschsprung Disease 1.

Pathways for Hirschsprung Disease 1

GO Terms for Hirschsprung Disease 1

Biological processes related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.95 GDNF GFRA1 NRTN PSPN RET
2 MAPK cascade GO:0000165 9.83 GDNF GFRA1 NRTN PSPN RET
3 axon guidance GO:0007411 9.8 GDNF GFRA1 L1CAM NRTN PSPN RET
4 neuron differentiation GO:0030182 9.75 EDN3 PHOX2B RET
5 neuron projection development GO:0031175 9.74 GDNF L1CAM NRTN
6 nervous system development GO:0007399 9.73 ACHE EDNRB GDNF GFRA1 L1CAM NRTN
7 regulation of vasoconstriction GO:0019229 9.58 ECE1 EDN3
8 response to pain GO:0048265 9.56 EDNRB RET
9 enteric nervous system development GO:0048484 9.55 EDNRB GDNF PHOX2B RET SOX10
10 mRNA stabilization GO:0048255 9.54 GDNF VIP
11 peripheral nervous system development GO:0007422 9.54 EDNRB GDNF SOX10
12 vasoconstriction GO:0042310 9.52 EDN3 EDNRB
13 sympathetic nervous system development GO:0048485 9.51 GDNF PHOX2B
14 melanocyte differentiation GO:0030318 9.5 EDN3 EDNRB SOX10
15 developmental pigmentation GO:0048066 9.49 EDNRB ZEB2
16 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.48 ECE1 EDN3
17 vein smooth muscle contraction GO:0014826 9.46 EDN3 EDNRB
18 posterior midgut development GO:0007497 9.4 EDNRB RET
19 neural crest cell migration GO:0001755 9.23 EDN3 EDNRB GDNF NRTN RET SEMA3C

Molecular functions related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.35 EDN3 GDNF GFRA1 NRTN PSPN
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.02 GDNF GFRA1 NRTN PSPN RET

Sources for Hirschsprung Disease 1

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