MCID: HRS037
MIFTS: 17

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 58
Hirschsprung Disease Type D Brachydactyly 54 30 74
Familial Hirschsprung's Disease and Type D Brachydactyly 54
Hirschsprung Disease-Type D Brachydactyly Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hirschsprung disease-type d brachydactyly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
? x-linked


Classifications:



External Ids:

OMIM 58 306980
MESH via Orphanet 46 C538319
ICD10 via Orphanet 35 Q43.1
UMLS via Orphanet 75 C1844017
Orphanet 60 ORPHA2150
MedGen 43 C1844017
UMLS 74 C1844017

Summaries for Hirschsprung Disease with Type D Brachydactyly

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2150Disease definitionHirschsprung disease-type D brachydactylysyndrome 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

Description 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:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aganglionic megacolon 60 33 hallmark (90%) Very frequent (99-80%) HP:0002251
2 aplastic/hypoplastic toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0010624
3 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
4 hypoplastic fingernail 60 33 frequent (33%) Frequent (79-30%) HP:0001804
5 short distal phalanx of the thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009650
6 short phalanx of hallux 60 33 frequent (33%) Frequent (79-30%) HP:0010111
7 short thumb 33 HP:0009778
8 type d brachydactyly 33 HP:0005627

Symptoms via clinical synopsis from OMIM:

58
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 30

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 Year
1
Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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