MCID: ANR017
MIFTS: 19

Aniridia, Cerebellar Ataxia and Mental Deficiency malady

Neuronal diseases, Eye diseases, Fetal diseases categories

Summaries for Aniridia, Cerebellar Ataxia and Mental Deficiency

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46OMIM, 32MalaCards
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MalaCards: Aniridia, Cerebellar Ataxia and Mental Deficiency, also known as gillespie syndrome, is related to cerebellar ataxia and aniridia, cerebellar ataxia, and mental retardation, and has symptoms including pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches, anomalies of ear and hearing and speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia. An important gene associated with Aniridia, Cerebellar Ataxia and Mental Deficiency is PAX6 (paired box 6). Affiliated tissues include eye.

Description from OMIM:46 206700

Aliases & Classifications for Aniridia, Cerebellar Ataxia and Mental Deficiency

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42NIH Rare Diseases, 46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
gillespie syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

aniridia, cerebellar ataxia and mental deficiency 42
gillespie syndrome 42 46 48
aniridia - cerebellar ataxia - intellectual deficit 48


External Ids:

SNOMED-CT via Orphanet57 253176002
OMIM46 206700

Related Diseases for Aniridia, Cerebellar Ataxia and Mental Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Aniridia, Cerebellar Ataxia and Mental Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia10.4
2aniridia, cerebellar ataxia, and mental retardation10.1

Clinical Features for Aniridia, Cerebellar Ataxia and Mental Deficiency

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46OMIM, 48Orphanet
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Clinical features from OMIM:

206700

Clinical synopsis from OMIM:

206700

Symptoms:

48 (show all 10)
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • anomalies of ear and hearing
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hypotonia
  • movement disorder
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ataxia/incoordination/trouble of the equilibrium
  • aniridia/iris hypoplasia
  • expressionless face/amimia

Drugs & Therapeutics for Aniridia, Cerebellar Ataxia and Mental Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Aniridia, Cerebellar Ataxia and Mental Deficiency

Drug clinical trials:

Search ClinicalTrials for Aniridia, Cerebellar Ataxia and Mental Deficiency

Search NIH Clinical Center for Aniridia, Cerebellar Ataxia and Mental Deficiency

Search CenterWatch for Aniridia, Cerebellar Ataxia and Mental Deficiency

Genetic Tests for Aniridia, Cerebellar Ataxia and Mental Deficiency

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Anatomical Context for Aniridia, Cerebellar Ataxia and Mental Deficiency

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32MalaCards
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MalaCards organs/tissues related to Aniridia, Cerebellar Ataxia and Mental Deficiency:

32
Eye

Animal Models for Aniridia, Cerebellar Ataxia and Mental Deficiency or affiliated genes

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Publications for Aniridia, Cerebellar Ataxia and Mental Deficiency

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Genetic Variations for Aniridia, Cerebellar Ataxia and Mental Deficiency

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Expression for genes affiliated with Aniridia, Cerebellar Ataxia and Mental Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aniridia, Cerebellar Ataxia and Mental Deficiency

Search GEO for disease gene expression data for Aniridia, Cerebellar Ataxia and Mental Deficiency.

Pathways for genes affiliated with Aniridia, Cerebellar Ataxia and Mental Deficiency

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Compounds for genes affiliated with Aniridia, Cerebellar Ataxia and Mental Deficiency

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GO Terms for genes affiliated with Aniridia, Cerebellar Ataxia and Mental Deficiency

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Products for genes affiliated with Aniridia, Cerebellar Ataxia and Mental Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aniridia, Cerebellar Ataxia and Mental Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet