MCID: ANR044
MIFTS: 18

Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation

Categories: Nephrological diseases, Neuronal diseases, Eye 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 53
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome 55
Sommer-Rathbun-Battles Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
aniridia-renal agenesis-psychomotor retardation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
aniridia, partial, with unilateral renal agenesis and psychomotor retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 206750
Orphanet 55 ORPHA1064
UMLS via Orphanet 70 C1859782
MESH via Orphanet 42 C536371
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1859782

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 frontal bossing, muscular hypotonia and depressed nasal bridge. 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:

# Related Disease Score Top Affiliating Genes
1 aniridia renal agenesis psychomotor retardation 11.5

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

Symptoms via clinical synopsis from OMIM:

53
Head:
frontal bossing

GU:
unilateral renal agenesis

Eyes:
telecanthus
congenital glaucoma
partial aniridia

Neuro:
mental retardation


Clinical features from OMIM:

206750

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

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
3 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
5 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
8 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
10 downturned corners of mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0002714
11 craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001363
12 mild global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011342
13 unilateral renal agenesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000122
14 communicating hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0001334
15 congenital glaucoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001087
16 partial aniridia 55 31 hallmark (90%) Very frequent (99-80%) HP:0011498
17 intellectual disability 31 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:

38
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...

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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