MCID: HRS038
MIFTS: 15

Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

MalaCards integrated aliases for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features:

Name: Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 56
Hirschsprung Disease-Nail Hypoplasia-Dysmorphism Syndrome 58 29
Al Gazali-Donnai-Muller Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hirschsprung disease with hypoplastic nails and dysmorphic facial features:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 235760
ICD10 via Orphanet 33 Q43.1
UMLS via Orphanet 72 C1856110
Orphanet 58 ORPHA2153
MedGen 41 C1856110

Summaries for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

MalaCards based summary : Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features, also known as hirschsprung disease-nail hypoplasia-dysmorphism syndrome, is related to al-gazali-donnai-mueller syndrome. Affiliated tissues include skin, and related phenotypes are inguinal hernia and abnormal facial shape

More information from OMIM: 235760

Related Diseases for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

Diseases related to Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 al-gazali-donnai-mueller syndrome 11.6

Symptoms & Phenotypes for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

Human phenotypes related to Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 abnormal facial shape 31 HP:0001999
3 anal atresia 31 HP:0002023
4 aganglionic megacolon 31 HP:0002251
5 hydronephrosis 31 HP:0000126
6 small nail 31 HP:0001792

Symptoms via clinical synopsis from OMIM:

56
Abdomen:
inguinal hernia

G I:
imperforate anus
hirschsprung megacolon

H E E N T:
minor dysmorphic facies

G U:
hydronephrosis

Nails:
hypoplastic nails

Clinical features from OMIM:

235760

Drugs & Therapeutics for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features

Genetic Tests for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

Genetic tests related to Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features:

# Genetic test Affiliating Genes
1 Hirschsprung Disease-Nail Hypoplasia-Dysmorphism Syndrome 29

Anatomical Context for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

MalaCards organs/tissues related to Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features:

40
Skin

Publications for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

Articles related to Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features:

# Title Authors PMID Year
1
Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? 56
3236354 1988

Variations for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

Expression for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

Search GEO for disease gene expression data for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features.

Pathways for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

GO Terms for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

Sources for Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial...

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
Content
Loading form....