MCID: ANR016
MIFTS: 6

Aniridia Renal Agenesis Psychomotor Retardation

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Aniridia Renal Agenesis Psychomotor Retardation

MalaCards integrated aliases for Aniridia Renal Agenesis Psychomotor Retardation:

Name: Aniridia Renal Agenesis Psychomotor Retardation 50 69
Aniridia Partial with Unilateral Renal Agenesis and Psychomotor Retardation 50
Sommer Rathbun Battles Syndrome 50

Classifications:



Summaries for Aniridia Renal Agenesis Psychomotor Retardation

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1064disease definitionaniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenitalglaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. there have been no further descriptions in the literature since 1974.visit the orphanet disease page for more resources. last updated: 5/5/2014

MalaCards based summary : Aniridia Renal Agenesis Psychomotor Retardation, also known as aniridia partial with unilateral renal agenesis and psychomotor retardation, is related to aniridia, partial, with unilateral renal agenesis and psychomotor retardation.

Related Diseases for Aniridia Renal Agenesis Psychomotor Retardation

Diseases related to Aniridia Renal Agenesis Psychomotor Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.2

Symptoms & Phenotypes for Aniridia Renal Agenesis Psychomotor Retardation

Drugs & Therapeutics for Aniridia Renal Agenesis Psychomotor Retardation

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 Renal Agenesis Psychomotor Retardation

Genetic Tests for Aniridia Renal Agenesis Psychomotor Retardation

Anatomical Context for Aniridia Renal Agenesis Psychomotor Retardation

Publications for Aniridia Renal Agenesis Psychomotor Retardation

Variations for Aniridia Renal Agenesis Psychomotor Retardation

Expression for Aniridia Renal Agenesis Psychomotor Retardation

Search GEO for disease gene expression data for Aniridia Renal Agenesis Psychomotor Retardation.

Pathways for Aniridia Renal Agenesis Psychomotor Retardation

GO Terms for Aniridia Renal Agenesis Psychomotor Retardation

Sources for Aniridia Renal Agenesis Psychomotor Retardation

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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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