MCID: ANR041
MIFTS: 12

Aniridia-Intellectual Disability Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Aniridia-Intellectual Disability Syndrome

MalaCards integrated aliases for Aniridia-Intellectual Disability Syndrome:

Name: Aniridia-Intellectual Disability Syndrome 56
Walker Dyson Syndrome 69
Walker-Dyson Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
aniridia-intellectual disability syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA1068
MESH via Orphanet 43 C536568
UMLS via Orphanet 70 C2931243

Summaries for Aniridia-Intellectual Disability Syndrome

MalaCards based summary : Aniridia-Intellectual Disability Syndrome, also known as walker dyson syndrome, is related to walker dyson syndrome, and has symptoms including cataract, aniridia and optic nerve hypoplasia.

Related Diseases for Aniridia-Intellectual Disability Syndrome

Diseases related to Aniridia-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 walker dyson syndrome 12.1

Symptoms & Phenotypes for Aniridia-Intellectual Disability Syndrome

Human phenotypes related to Aniridia-Intellectual Disability Syndrome:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
2 aniridia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000526
3 optic nerve hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000609
4 ectopia lentis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001083
5 intellectual disability, moderate 56 32 hallmark (90%) Very frequent (99-80%) HP:0002342

Drugs & Therapeutics for Aniridia-Intellectual Disability Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Aniridia-Intellectual Disability Syndrome

Genetic Tests for Aniridia-Intellectual Disability Syndrome

Anatomical Context for Aniridia-Intellectual Disability Syndrome

Publications for Aniridia-Intellectual Disability Syndrome

Variations for Aniridia-Intellectual Disability Syndrome

Expression for Aniridia-Intellectual Disability Syndrome

Search GEO for disease gene expression data for Aniridia-Intellectual Disability Syndrome.

Pathways for Aniridia-Intellectual Disability Syndrome

GO Terms for Aniridia-Intellectual Disability Syndrome

Sources for Aniridia-Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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