ASDP
MCID: ANL019
MIFTS: 16

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 20 71
Asdp 57 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
anal sphincter dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 105563
MedGen 41 C1862936
UMLS 71 C1862936

Summaries for Anal Sphincter Dysplasia

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

More information 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 constipation 10.0

Symptoms & Phenotypes for Anal Sphincter Dysplasia

Human phenotypes related to Anal Sphincter Dysplasia:

31
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 bowel incontinence 31 HP:0002607
3 diarrhea 31 HP:0002014
4 chronic constipation 31 HP:0012450
5 encopresis 31 HP:0040183

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

MalaCards organs/tissues related to Anal Sphincter Dysplasia:

40
Skin

Publications for Anal Sphincter Dysplasia

Articles related to Anal Sphincter Dysplasia:

(show all 12)
# Title Authors PMID Year
1
[Anal sphincter dysplasia as cause of chronic defecation disorders: a clinical and genetic study]. 61 57
1947952 1991
2
Views of dermatopathologists about clonality assays in the diagnosis of cutaneous T-cell and B-cell lymphoproliferative disorders. 61
29084365 2018
3
Disability Divides in India: Evidence from the 2011 Census. 61
27490469 2016
4
Guiding automated NMR structure determination using a global optimization metric, the NMR DP score. 61
26081575 2015
5
Dermatopathologists' concerns and challenges with clinical information in the skin biopsy requisition form: a mixed-methods study. 61
25757028 2015
6
Dermatopathology workforce in the United States: a survey. 61
21550690 2011
7
Quality assurance and continuing medical education in dermatopathology - the ASDP way. 61
18399813 2008
8
Diagnostic concordance among dermatopathologists using a three-tiered keratinocytic intraepithelial neoplasia grading scheme. 61
18333899 2008
9
Gene expression analysis of murine lungs following pulmonary exposure to Asian sand dust particles. 61
17720957 2007
10
Characteristics of dermatologists who read dermatopathology slides. 61
17696915 2007
11
Variability in nomenclature used for nevi with architectural disorder and cytologic atypia (microscopically dysplastic nevi) by dermatologists and dermatopathologists. 61
15268706 2004
12
Panoramic radiographic patterns of the infraorbital canal and anterior superior dental plexus. 61
9656872 1998

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....