MCID: ANR044
MIFTS: 17

Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation

Categories: Neuronal diseases, Eye diseases, Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

MalaCards integrated aliases for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation:

Name: Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 54
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome 56
Sommer-Rathbun-Battles Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
aniridia-renal agenesis-psychomotor retardation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
aniridia, partial, with unilateral renal agenesis and psychomotor retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

MalaCards based summary : Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation, also known as aniridia-renal agenesis-psychomotor retardation syndrome, is related to aniridia renal agenesis psychomotor retardation, and has symptoms including short stature, strabismus and micrognathia. Affiliated tissues include eye.

Description from OMIM: 206750

Related Diseases for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

Diseases related to Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 aniridia renal agenesis psychomotor retardation 11.4

Symptoms & Phenotypes for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

Symptoms via clinical synopsis from OMIM:

54

Neuro:
mental retardation

Eyes:
telecanthus
congenital glaucoma
partial aniridia

Head:
frontal bossing

GU:
unilateral renal agenesis


Clinical features from OMIM:

206750

Human phenotypes related to Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 strabismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000486
3 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
4 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
6 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
7 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
8 unilateral renal agenesis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000122
9 craniosynostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001363
10 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
11 downturned corners of mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0002714
12 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
13 communicating hydrocephalus 56 32 frequent (33%) Frequent (79-30%) HP:0001334
14 congenital glaucoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001087
15 mild global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011342
16 partial aniridia 56 32 hallmark (90%) Very frequent (99-80%) HP:0011498
17 intellectual disability 32 HP:0001249

Drugs & Therapeutics for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

Search Clinical Trials , NIH Clinical Center for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation

Genetic Tests for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

Anatomical Context for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

MalaCards organs/tissues related to Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation:

39
Eye

Publications for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

Variations for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

Expression for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

Search GEO for disease gene expression data for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation.

Pathways for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

GO Terms for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

Sources for Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor...

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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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42 MeSH
43 MESH via Orphanet
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55 OMIM via Orphanet
59 PubMed
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70 UMLS via Orphanet
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