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 58 54 74
Asdp 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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

Human phenotypes related to Anal Sphincter Dysplasia:

33
# Description HPO Frequency HPO Source Accession
1 constipation 33 HP:0002019
2 bowel incontinence 33 HP:0002607
3 diarrhea 33 HP:0002014
4 chronic constipation 33 HP:0012450
5 encopresis 33 HP:0040183

Symptoms via clinical synopsis from OMIM:

58
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

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 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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