MCID: ATS403
MIFTS: 7

Autosomal Dominant Intellectual Disability 40

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Intellectual Disability 40

MalaCards integrated aliases for Autosomal Dominant Intellectual Disability 40:

Name: Autosomal Dominant Intellectual Disability 40 52
Champ1-Associated Intellectual Disability Syndrome 52
Champ1 Gene Mutation 52
Champ1 Mutations 52

Classifications:



Summaries for Autosomal Dominant Intellectual Disability 40

MalaCards based summary : Autosomal Dominant Intellectual Disability 40, also known as champ1-associated intellectual disability syndrome, is related to alacrima, achalasia, and mental retardation syndrome. Affiliated tissues include eye.

Related Diseases for Autosomal Dominant Intellectual Disability 40

Symptoms & Phenotypes for Autosomal Dominant Intellectual Disability 40

Drugs & Therapeutics for Autosomal Dominant Intellectual Disability 40

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Intellectual Disability 40

Genetic Tests for Autosomal Dominant Intellectual Disability 40

Anatomical Context for Autosomal Dominant Intellectual Disability 40

MalaCards organs/tissues related to Autosomal Dominant Intellectual Disability 40:

40
Eye

Publications for Autosomal Dominant Intellectual Disability 40

Articles related to Autosomal Dominant Intellectual Disability 40:

# Title Authors PMID Year
1
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. 61
26751395 2016

Variations for Autosomal Dominant Intellectual Disability 40

Expression for Autosomal Dominant Intellectual Disability 40

Search GEO for disease gene expression data for Autosomal Dominant Intellectual Disability 40.

Pathways for Autosomal Dominant Intellectual Disability 40

GO Terms for Autosomal Dominant Intellectual Disability 40

Sources for Autosomal Dominant Intellectual Disability 40

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
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