ASDP
MCID: ANL019
MIFTS: 13

Anal Sphincter Dysplasia (ASDP)

Categories: Rare diseases

Aliases & Classifications for Anal Sphincter Dysplasia

MalaCards integrated aliases for Anal Sphincter Dysplasia:

Name: Anal Sphincter Dysplasia 57 53 73
Asdp 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
anal sphincter dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anal Sphincter Dysplasia

MalaCards based summary : Anal Sphincter Dysplasia, also known as asdp, is related to perrault syndrome 1, and has symptoms including constipation and chronic constipation. An important gene associated with Anal Sphincter Dysplasia is ASDP (Anal Sphincter Dysplasia). Related phenotypes are constipation and bowel incontinence

Description from OMIM: 105563

Related Diseases for Anal Sphincter Dysplasia

Diseases related to Anal Sphincter Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1

Symptoms & Phenotypes for Anal Sphincter Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
chronic constipation
encopresis
congenital anal canal malformation
straining at defecation
chronic paradoxical diarrhea
more
Skeletal:
absent (type i) or incomplete (type ii) fixation of the sphincter complex to the coccyx on ct scan


Clinical features from OMIM:

105563

Human phenotypes related to Anal Sphincter Dysplasia:

32
# Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 bowel incontinence 32 HP:0002607
3 diarrhea 32 HP:0002014
4 chronic constipation 32 HP:0012450
5 encopresis 32 HP:0040183

UMLS symptoms related to Anal Sphincter Dysplasia:


constipation, chronic constipation

Drugs & Therapeutics for Anal Sphincter Dysplasia

Search Clinical Trials , NIH Clinical Center for Anal Sphincter Dysplasia

Genetic Tests for Anal Sphincter Dysplasia

Anatomical Context for Anal Sphincter Dysplasia

Publications for Anal Sphincter Dysplasia

Variations for Anal Sphincter Dysplasia

Expression for Anal Sphincter Dysplasia

Search GEO for disease gene expression data for Anal Sphincter Dysplasia.

Pathways for Anal Sphincter Dysplasia

GO Terms for Anal Sphincter Dysplasia

Sources for Anal Sphincter Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....