MCID: HRS037
MIFTS: 16

Hirschsprung Disease with Type D Brachydactyly

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

Aliases & Classifications for Hirschsprung Disease with Type D Brachydactyly

MalaCards integrated aliases for Hirschsprung Disease with Type D Brachydactyly:

Name: Hirschsprung Disease with Type D Brachydactyly 56
Hirschsprung Disease Type D Brachydactyly 52 29 71
Familial Hirschsprung's Disease and Type D Brachydactyly 52
Hirschsprung Disease-Type D Brachydactyly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hirschsprung disease-type d brachydactyly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
? x-linked


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 306980
MESH via Orphanet 44 C538319
ICD10 via Orphanet 33 Q43.1
UMLS via Orphanet 72 C1844017
Orphanet 58 ORPHA2150
MedGen 41 C1844017
UMLS 71 C1844017

Summaries for Hirschsprung Disease with Type D Brachydactyly

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2150 Definition Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hirschsprung Disease with Type D Brachydactyly, also known as hirschsprung disease type d brachydactyly, is related to brachydactyly. Related phenotypes are aganglionic megacolon and aplastic/hypoplastic toenail

More information from OMIM: 306980

Related Diseases for Hirschsprung Disease with Type D Brachydactyly

Diseases related to Hirschsprung Disease with Type D Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.2

Symptoms & Phenotypes for Hirschsprung Disease with Type D Brachydactyly

Human phenotypes related to Hirschsprung Disease with Type D Brachydactyly:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aganglionic megacolon 58 31 hallmark (90%) Very frequent (99-80%) HP:0002251
2 aplastic/hypoplastic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0010624
3 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
4 hypoplastic fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0001804
5 short distal phalanx of the thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009650
6 short phalanx of hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010111
7 short thumb 31 HP:0009778
8 type d brachydactyly 31 HP:0005627

Symptoms via clinical synopsis from OMIM:

56
G I:
hirschsprung disease

Limbs:
absent/hypoplastic thumb and great toe distal phalanges
brachydactyly type d

Clinical features from OMIM:

306980

Drugs & Therapeutics for Hirschsprung Disease with Type D Brachydactyly

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease with Type D Brachydactyly

Genetic Tests for Hirschsprung Disease with Type D Brachydactyly

Genetic tests related to Hirschsprung Disease with Type D Brachydactyly:

# Genetic test Affiliating Genes
1 Hirschsprung Disease Type D Brachydactyly 29

Anatomical Context for Hirschsprung Disease with Type D Brachydactyly

Publications for Hirschsprung Disease with Type D Brachydactyly

Articles related to Hirschsprung Disease with Type D Brachydactyly:

# Title Authors PMID Year
1
Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. 56 61
6823428 1983

Variations for Hirschsprung Disease with Type D Brachydactyly

Expression for Hirschsprung Disease with Type D Brachydactyly

Search GEO for disease gene expression data for Hirschsprung Disease with Type D Brachydactyly.

Pathways for Hirschsprung Disease with Type D Brachydactyly

GO Terms for Hirschsprung Disease with Type D Brachydactyly

Sources for Hirschsprung Disease with Type D Brachydactyly

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