MCID: ANR041
MIFTS: 13

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 55
Walker Dyson Syndrome 69
Walker-Dyson Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
aniridia-intellectual disability syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA1068
MESH via Orphanet 42 C536568
UMLS via Orphanet 70 C2931243
UMLS 69 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:

# Related Disease Score Top Affiliating Genes
1 walker dyson syndrome 12.3

Symptoms & Phenotypes for Aniridia-Intellectual Disability Syndrome

Human phenotypes related to Aniridia-Intellectual Disability Syndrome:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 aniridia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000526
3 optic nerve hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000609
4 ectopia lentis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001083
5 intellectual disability, moderate 55 31 hallmark (90%) Very frequent (99-80%) HP:0002342

Drugs & Therapeutics for Aniridia-Intellectual Disability Syndrome

Interventional clinical trials:


# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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