ORPHA:388
Hirschsprung disease
Synonyms: Aganglionic megacolon · Colonic aganglionosis · Congenital intestinal aganglionosis · HSCR
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hirschsprung disease | Aganglionic megacolon · Colonic aganglionosis · Congenital intestinal aganglionosis · HSCR |
| fr | Maladie de Hirschsprung | Aganglionose du côlon · Aganglionose intestinale congénitale · HSCR · Mégacôlon aganglionique |
| de | Hirschsprung-Krankheit | Aganglionose, intestinale kongenitale · HSCR · Megakolon, aganglionotisches |
| es | Enfermedad de Hirschsprung | Aganglionosis colónica · Aganglionosis intestinal congénita · HSCR · Megacolon agangliónico |
| it | Malattia di Hirschsprung | Aganglionosi del colon · Aganglionosi intestinale congenita · HSCR · Megacolon aganglionico |
| nl | Ziekte van Hirschsprung | Aganglionair megacolon · Aganglionose van colon · Congenitale intestinale aganglionose · HSCR |
| pt | Doença de Hirschsprung | Agangliose intestinal congénita · Megacolon agangliónico |
| pl | Choroba Hirschsprunga | Aganglioza okrężnicy · HSCR · Wrodzona aganglionoza jelit |
| cs | Hirschsprungova nemoc | Aganglionické megakolon · HSCR · Megacolon congenitum, forma Hirschsprungova nemoc · Vrozená střevní aganglionóza |
| uk | Хвороба Гіршпрунга | Агангліонарний мегаколон · Агангліоноз товстої кишки · Вроджений агангліоноз кишечника · HSCR |
| zh | 先天性巨结肠 | 先天性肠神经节细胞缺失症 |
| tr | Hirschsprung hastalığı | HSCR · Aganglionik megakolon · Doğumsal bağırsak aganglionozu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 142623 | BTNT | validated | |
| OMIM | 600155 | BTNT | validated | |
| OMIM | 600156 | BTNT | validated | |
| OMIM | 606874 | BTNT | validated | |
| OMIM | 606875 | BTNT | validated | |
| OMIM | 608462 | BTNT | validated | |
| OMIM | 611644 | BTNT | validated | |
| OMIM | 613711 | BTNT | validated | |
| OMIM | 613712 | BTNT | validated | |
| OMIM | 613870 | BTNT | validated | |
| ICD-10 | Q43.1 | E | specific | validated |
| ICD-11 | LB16.1 | E | specific | validated |
| MONDO | 0018309 | E | validated | |
| MeSH | D006627 | E | validated | |
| UMLS | C0019569 | E | validated | |
| GARD | 6660 | E | validated | |
| MedDRA | 10010539 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
14 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:61 | ENSG00000101986 | 300371 | Xq28 | ATP binding cassette subfamily D member 1 | 33151932[PMID] |
| ATP7A | Disease-causing germline mutation(s) in | Assessed | HGNC:869 | ENSG00000165240 | 300011 | Xq21.1 | ATPase copper transporting alpha | 33151932[PMID] |
| ERBB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3430 | ENSG00000141736 | 164870 | 17q12 | erb-b2 receptor tyrosine kinase 2 | 33497358[PMID] |
| ERBB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3431 | ENSG00000065361 | 190151 | 12q13.2 | erb-b2 receptor tyrosine kinase 3 | 33497358[PMID] |
| RET | Disease-causing germline mutation(s) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 31609069[PMID] |
| SMO | Disease-causing germline mutation(s) in | Assessed | HGNC:11119 | ENSG00000128602 | 601500 | 7q32.1 | smoothened, frizzled class receptor | 32413283[PMID] |
| SREBF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11289 | ENSG00000072310 | 184756 | 17p11.2 | sterol regulatory element binding transcription factor 1 | 33151932[PMID] |
| ECE1 | Major susceptibility factor in | Assessed | HGNC:3146 | ENSG00000117298 | 600423 | 1p36.12 | endothelin converting enzyme 1 | 20301612[PMID] |
| EDN3 | Major susceptibility factor in | Assessed | HGNC:3178 | ENSG00000124205 | 131242 | 20q13.32 | endothelin 3 | 20301612[PMID] |
| EDNRB | Major susceptibility factor in | Assessed | HGNC:3180 | ENSG00000136160 | 131244 | 13q22.3 | endothelin receptor type B | 20301612[PMID] |
| GDNF | Major susceptibility factor in | Assessed | HGNC:4232 | ENSG00000168621 | 600837 | 5p13.2 | glial cell derived neurotrophic factor | 20301612[PMID] |
| NRTN | Major susceptibility factor in | Assessed | HGNC:8007 | ENSG00000171119 | 602018 | 19p13.3 | neurturin | 20301612[PMID] |
| SEMA3C | Major susceptibility factor in | Assessed | HGNC:10725 | ENSG00000075223 | 602645 | 7q21.11 | semaphorin 3C | 25839327[PMID] |
| SEMA3D | Major susceptibility factor in | Assessed | HGNC:10726 | ENSG00000153993 | 609907 | 7q21.11 | semaphorin 3D | 25839327[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 13.2 / 100 000 | Europe | Value and class | Validated | 25066220[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 21 / 100 000 | United States | Value and class | Validated | 27702942[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.2 / 100 000 | Europe | Value and class | Validated | 25066220[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 15 / 100 000 | Worldwide | Value and class | Validated | 31644668[PMID]_27702942[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 22 / 100 000 | Taiwan, Province of China | Value and class | Validated | 27118113[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 15 / 100 000 | Worldwide | Value and class | Validated | 31644668[PMID]_27702942[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
19 annotations · validated 2024-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0002019 | Constipation | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0005214 | Intestinal obstruction | |
| HP:0002017 | Nausea and vomiting | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0034754 | Bilious emesis | |
| HP:6000224 | Delayed passage of meconium | |
| HP:0011968 | Feeding difficulties | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0031369 | Colon perforation | |
| HP:0002014 | Diarrhea | |
| HP:0004387 | Enterocolitis | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001510 | Growth delay | |
| HP:0001561 | Polyhydramnios | |
| HP:0100806 | Sepsis | |
| HP:0004322 | Short stature | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 32965813[PMID]_31791203[PMID]_37828049[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/388
- This record as JSON: /data/d/388.json