MCID: ANR044
MIFTS: 18

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 57
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome 59
Sommer-Rathbun-Battles Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
aniridia-renal agenesis-psychomotor retardation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 206750
Orphanet 59 ORPHA1064
MESH via Orphanet 45 C536371
UMLS via Orphanet 74 C1859782
ICD10 via Orphanet 34 Q87.8
MedGen 42 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. Affiliated tissues include eye, and related phenotypes are frontal bossing and muscular hypotonia

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:

57
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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
4 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
5 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
8 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
9 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
10 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
11 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
12 mild global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011342
13 unilateral renal agenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000122
14 communicating hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0001334
15 congenital glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001087
16 partial aniridia 59 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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