MCID: HRS003
MIFTS: 14

Hirschsprung Disease Ganglioneuroblastoma malady

Fetal diseases, Neuronal diseases categories

Summaries for Hirschsprung Disease Ganglioneuroblastoma

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Hirschsprung Disease Ganglioneuroblastoma, is also known as neuroblastoma with hirschsprung disease, and has symptoms including pupillary anomalies/mydriasis/myosis/tonic pupil, hyperhidrosis/increased sweating and dolichocolon/megacolon/megadolichocolon/hirschsprung's disease. An important gene associated with Hirschsprung Disease Ganglioneuroblastoma is PHOX2B (paired-like homeobox 2b).

Description from OMIM:46 613013

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

About this section
Sources:
42NIH Rare Diseases, 60UMLS, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

hirschsprung disease ganglioneuroblastoma 42 60
neuroblastoma with hirschsprung disease 42 46
hirschsprung disease - ganglioneuroblastoma 48


External Ids:

MESH via Orphanet35 C538119
ICD10 via Orphanet26 Q43.1
UMLS via Orphanet61 C2751683

Related Diseases for Hirschsprung Disease Ganglioneuroblastoma

About this section

Clinical Features for Hirschsprung Disease Ganglioneuroblastoma

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

613013

Symptoms:

48
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • hyperhidrosis/increased sweating
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • cardiac rhythm disorder/arrhythmia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer

Drugs & Therapeutics for Hirschsprung Disease Ganglioneuroblastoma

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hirschsprung Disease Ganglioneuroblastoma

Drug clinical trials:

Search ClinicalTrials for Hirschsprung Disease Ganglioneuroblastoma

Search NIH Clinical Center for Hirschsprung Disease Ganglioneuroblastoma

Search CenterWatch for Hirschsprung Disease Ganglioneuroblastoma

Genetic Tests for Hirschsprung Disease Ganglioneuroblastoma

About this section

Anatomical Context for Hirschsprung Disease Ganglioneuroblastoma

About this section

Animal Models for Hirschsprung Disease Ganglioneuroblastoma or affiliated genes

About this section

Publications for Hirschsprung Disease Ganglioneuroblastoma

About this section

Genetic Variations for Hirschsprung Disease Ganglioneuroblastoma

About this section

Expression for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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

Pathways for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

About this section

Compounds for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

About this section

GO Terms for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

About this section

Products for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hirschsprung Disease Ganglioneuroblastoma

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet