HSCR3
MCID: HRS034
MIFTS: 24

Hirschsprung Disease 3 (HSCR3)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hirschsprung Disease 3

MalaCards integrated aliases for Hirschsprung Disease 3:

Name: Hirschsprung Disease 3 57 72 29 6
Hscr3 57 20 72
Hirschsprung Disease, Susceptibility to, 3 57 13
Hirschsprung Disease Type 3 20 70
Hirschsprung Disease Modifier 20
Hirschsprung Disease, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
hirschsprung disease 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613711
OMIM Phenotypic Series 57 PS142623
MeSH 44 D006627
UMLS 70 C2931739

Summaries for Hirschsprung Disease 3

OMIM® : 57 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. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). Hofstra et al. (1997) discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease. For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see 142623. (613711) (Updated 20-May-2021)

MalaCards based summary : Hirschsprung Disease 3, is also known as hscr3. An important gene associated with Hirschsprung Disease 3 is GDNF (Glial Cell Derived Neurotrophic Factor). Related phenotype is aganglionic megacolon.

UniProtKB/Swiss-Prot : 72 Hirschsprung disease 3: 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.

Related Diseases for Hirschsprung Disease 3

Symptoms & Phenotypes for Hirschsprung Disease 3

Human phenotypes related to Hirschsprung Disease 3:

31
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 31 HP:0002251

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
hirschsprung disease
malrotation of the gut
short-segment aganglionosis (in some patients)
long-segment aganglionosis (in some patients)

Clinical features from OMIM®:

613711 (Updated 20-May-2021)

Drugs & Therapeutics for Hirschsprung Disease 3

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease 3

Genetic Tests for Hirschsprung Disease 3

Genetic tests related to Hirschsprung Disease 3:

# Genetic test Affiliating Genes
1 Hirschsprung Disease 3 29 GDNF

Anatomical Context for Hirschsprung Disease 3

Publications for Hirschsprung Disease 3

Articles related to Hirschsprung Disease 3:

(show all 14)
# Title Authors PMID Year
1
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. 6 57
9359036 1997
2
De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 6 57
8968758 1996
3
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 6 57
8896568 1996
4
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. 6 57
8896569 1996
5
Hirschsprung disease, associated syndromes and genetics: a review. 57
17965226 2008
6
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. 6
12640453 2003
7
Hirschsprung associated GDNF mutations do not prevent RET activation. 57
11973622 2002
8
Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease. 57
11823451 2002
9
Pathogenesis of Hirschsprung's disease. 6
10917288 2000
10
Mutations of the RET-GDNF signaling pathway in Ondine's curse. 6
9497256 1998
11
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 6
9215674 1997
12
Sacral nerve stimulation is a valuable diagnostic tool in the management of anorectal and pelvic malformations. 61
22813818 2012
13
Laparoscopic-assisted Malone appendicostomy in the management of fecal incontinence in children. 61
21366440 2011
14
[Effect of combined drug treatment on megacolon with severe constipation]. 61
17553303 2007

Variations for Hirschsprung Disease 3

ClinVar genetic disease variations for Hirschsprung Disease 3:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDNF NM_000514.4(GDNF):c.460A>T (p.Thr154Ser) SNV risk factor 8760 rs104893891 GRCh37: 5:37815929-37815929
GRCh38: 5:37815827-37815827
2 GDNF NM_000514.4(GDNF):c.633C>G (p.Ile211Met) SNV risk factor 8761 rs121918536 GRCh37: 5:37815756-37815756
GRCh38: 5:37815654-37815654
3 GDNF NM_000514.4(GDNF):c.*907G>A SNV Uncertain significance 353510 rs751619765 GRCh37: 5:37814846-37814846
GRCh38: 5:37814744-37814744
4 GDNF NM_000514.4(GDNF):c.*2651C>G SNV Uncertain significance 353475 rs369707461 GRCh37: 5:37813102-37813102
GRCh38: 5:37813000-37813000
5 GDNF NM_000514.4(GDNF):c.*1331G>C SNV Uncertain significance 353501 rs886060597 GRCh37: 5:37814422-37814422
GRCh38: 5:37814320-37814320
6 GDNF NM_000514.4(GDNF):c.*1534G>A SNV Uncertain significance 353498 rs886060596 GRCh37: 5:37814219-37814219
GRCh38: 5:37814117-37814117
7 GDNF NM_000514.4(GDNF):c.*1244A>G SNV Uncertain significance 353504 rs886060598 GRCh37: 5:37814509-37814509
GRCh38: 5:37814407-37814407
8 GDNF NM_000514.4(GDNF):c.*1927C>T SNV Uncertain significance 353484 rs886060591 GRCh37: 5:37813826-37813826
GRCh38: 5:37813724-37813724
9 GDNF NM_000514.4(GDNF):c.*1612C>A SNV Uncertain significance 353493 rs200969412 GRCh37: 5:37814141-37814141
GRCh38: 5:37814039-37814039
10 GDNF NM_000514.4(GDNF):c.*1657C>A SNV Uncertain significance 353490 rs886060594 GRCh37: 5:37814096-37814096
GRCh38: 5:37813994-37813994
11 GDNF NM_000514.4(GDNF):c.*2828T>A SNV Uncertain significance 353473 rs200003002 GRCh37: 5:37812925-37812925
GRCh38: 5:37812823-37812823
12 GDNF NM_000514.4(GDNF):c.*346C>T SNV Uncertain significance 353516 rs753233921 GRCh37: 5:37815407-37815407
GRCh38: 5:37815305-37815305
13 GDNF NM_000514.4(GDNF):c.*532A>G SNV Uncertain significance 353513 rs886060602 GRCh37: 5:37815221-37815221
GRCh38: 5:37815119-37815119
14 GDNF NM_000514.4(GDNF):c.*1587G>T SNV Uncertain significance 353496 rs886060595 GRCh37: 5:37814166-37814166
GRCh38: 5:37814064-37814064
15 GDNF NM_000514.4(GDNF):c.*2059C>T SNV Uncertain significance 353482 rs886060590 GRCh37: 5:37813694-37813694
GRCh38: 5:37813592-37813592
16 GDNF NM_000514.4(GDNF):c.*958A>C SNV Uncertain significance 353508 rs886060599 GRCh37: 5:37814795-37814795
GRCh38: 5:37814693-37814693
17 GDNF NM_000514.4(GDNF):c.*1713C>T SNV Uncertain significance 353488 rs886060593 GRCh37: 5:37814040-37814040
GRCh38: 5:37813938-37813938
18 GDNF NM_000514.4(GDNF):c.*2556T>A SNV Uncertain significance 353477 rs886060588 GRCh37: 5:37813197-37813197
GRCh38: 5:37813095-37813095
19 GDNF NM_000514.4(GDNF):c.*807G>A SNV Uncertain significance 353511 rs886060601 GRCh37: 5:37814946-37814946
GRCh38: 5:37814844-37814844
20 GDNF NM_000514.4(GDNF):c.*1788G>A SNV Uncertain significance 353486 rs886060592 GRCh37: 5:37813965-37813965
GRCh38: 5:37813863-37813863
21 GDNF NM_000514.4(GDNF):c.*912A>G SNV Uncertain significance 353509 rs886060600 GRCh37: 5:37814841-37814841
GRCh38: 5:37814739-37814739
22 GDNF NM_000514.4(GDNF):c.*1627C>T SNV Uncertain significance 353492 rs748498805 GRCh37: 5:37814126-37814126
GRCh38: 5:37814024-37814024
23 GDNF NM_000514.4(GDNF):c.*717T>G SNV Uncertain significance 353512 rs753516612 GRCh37: 5:37815036-37815036
GRCh38: 5:37814934-37814934
24 GDNF NM_000514.4(GDNF):c.*795C>T SNV Uncertain significance 903707 GRCh37: 5:37814958-37814958
GRCh38: 5:37814856-37814856
25 GDNF NM_000514.4(GDNF):c.*617A>G SNV Uncertain significance 903708 GRCh37: 5:37815136-37815136
GRCh38: 5:37815034-37815034
26 GDNF NM_000514.4(GDNF):c.*1699G>C SNV Uncertain significance 904777 GRCh37: 5:37814054-37814054
GRCh38: 5:37813952-37813952
27 GDNF NM_000514.4(GDNF):c.*2646C>G SNV Uncertain significance 905489 GRCh37: 5:37813107-37813107
GRCh38: 5:37813005-37813005
28 GDNF NM_000514.4(GDNF):c.*1540A>G SNV Uncertain significance 905567 GRCh37: 5:37814213-37814213
GRCh38: 5:37814111-37814111
29 GDNF NM_000514.4(GDNF):c.*235G>T SNV Uncertain significance 905625 GRCh37: 5:37815518-37815518
GRCh38: 5:37815416-37815416
30 GDNF NM_000514.4(GDNF):c.*131G>A SNV Uncertain significance 905626 GRCh37: 5:37815622-37815622
GRCh38: 5:37815520-37815520
31 GDNF NM_000514.4(GDNF):c.*116G>T SNV Uncertain significance 905627 GRCh37: 5:37815637-37815637
GRCh38: 5:37815535-37815535
32 GDNF NM_000514.4(GDNF):c.*2446G>A SNV Uncertain significance 905999 GRCh37: 5:37813307-37813307
GRCh38: 5:37813205-37813205
33 GDNF NM_000514.4(GDNF):c.*2318G>A SNV Uncertain significance 906000 GRCh37: 5:37813435-37813435
GRCh38: 5:37813333-37813333
34 GDNF NM_000514.4(GDNF):c.*2267G>A SNV Uncertain significance 906001 GRCh37: 5:37813486-37813486
GRCh38: 5:37813384-37813384
35 GDNF NM_000514.4(GDNF):c.*2265T>C SNV Uncertain significance 906002 GRCh37: 5:37813488-37813488
GRCh38: 5:37813386-37813386
36 GDNF NM_000514.4(GDNF):c.*2213G>A SNV Uncertain significance 906003 GRCh37: 5:37813540-37813540
GRCh38: 5:37813438-37813438
37 GDNF NM_000514.4(GDNF):c.*1433A>T SNV Uncertain significance 906072 GRCh37: 5:37814320-37814320
GRCh38: 5:37814218-37814218
38 GDNF NM_000514.4(GDNF):c.272G>A (p.Arg91Gln) SNV Uncertain significance 906139 GRCh37: 5:37816117-37816117
GRCh38: 5:37816015-37816015
39 GDNF NM_000514.4(GDNF):c.151+9C>G SNV Uncertain significance 906140 GRCh37: 5:37834739-37834739
GRCh38: 5:37834637-37834637
40 GDNF NM_000514.4(GDNF):c.-34G>T SNV Uncertain significance 906141 GRCh37: 5:37839616-37839616
GRCh38: 5:37839514-37839514
41 GDNF NM_000514.4(GDNF):c.*1360A>G SNV Uncertain significance 906074 GRCh37: 5:37814393-37814393
GRCh38: 5:37814291-37814291
42 GDNF NM_000514.4(GDNF):c.347G>A (p.Arg116Gln) SNV Uncertain significance 906137 GRCh37: 5:37816042-37816042
GRCh38: 5:37815940-37815940
43 GDNF NM_000514.4(GDNF):c.*2119C>G SNV Uncertain significance 907022 GRCh37: 5:37813634-37813634
GRCh38: 5:37813532-37813532
44 GDNF NM_000514.4(GDNF):c.*1246C>T SNV Uncertain significance 907077 GRCh37: 5:37814507-37814507
GRCh38: 5:37814405-37814405
45 GDNF NM_000514.4(GDNF):c.-42G>T SNV Uncertain significance 907134 GRCh37: 5:37839624-37839624
GRCh38: 5:37839522-37839522
46 GDNF NM_000514.4(GDNF):c.-132G>C SNV Uncertain significance 907135 GRCh37: 5:37839714-37839714
GRCh38: 5:37839612-37839612
47 GDNF NM_000514.4(GDNF):c.390G>T (p.Leu130Phe) SNV Uncertain significance 930475 GRCh37: 5:37815999-37815999
GRCh38: 5:37815897-37815897
48 GDNF NM_000514.4(GDNF):c.-26G>T SNV Uncertain significance 931232 GRCh37: 5:37834924-37834924
GRCh38: 5:37834822-37834822
49 GDNF NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) SNV Likely benign 8758 rs36119840 GRCh37: 5:37816112-37816112
GRCh38: 5:37816010-37816010
50 GDNF NM_000514.4(GDNF):c.*5G>A SNV Likely benign 667238 rs145996577 GRCh37: 5:37815748-37815748
GRCh38: 5:37815646-37815646

UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 3:

72
# Symbol AA change Variation ID SNP ID
1 GDNF p.Thr154Ser VAR_009497 rs104893891
2 GDNF p.Ile211Met VAR_018152 rs121918536

Expression for Hirschsprung Disease 3

Search GEO for disease gene expression data for Hirschsprung Disease 3.

Pathways for Hirschsprung Disease 3

GO Terms for Hirschsprung Disease 3

Sources for Hirschsprung Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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