MCID: ANR044
MIFTS: 18

Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation

Categories: Eye diseases, Fetal diseases, Nephrological diseases, Neuronal 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 56
Aniridia Partial with Unilateral Renal Agenesis and Psychomotor Retardation 52
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome 58
Aniridia Renal Agenesis Psychomotor Retardation 52
Sommer Rathbun Battles Syndrome 52
Sommer-Rathbun-Battles Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
aniridia-renal agenesis-psychomotor retardation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 206750
MESH via Orphanet 44 C536371
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1859782
Orphanet 58 ORPHA1064
MedGen 41 C1859782

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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1064 Definition An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma , telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. Visit the Orphanet disease page for more resources.

MalaCards based summary : Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation, is also known as aniridia partial with unilateral renal agenesis and psychomotor retardation. Affiliated tissues include eye, and related phenotypes are frontal bossing and depressed nasal bridge

More information from OMIM: 206750

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

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

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

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
7 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
8 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
9 mild global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011342
10 unilateral renal agenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000122
11 aniridia 31 hallmark (90%) HP:0000526
12 developmental glaucoma 31 hallmark (90%) HP:0001087
13 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
14 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
15 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
16 communicating hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0001334
17 intellectual disability 31 HP:0001249
18 congenital glaucoma 58 Very frequent (99-80%)
19 partial aniridia 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head:
frontal bossing

G U:
unilateral renal agenesis

Eyes:
telecanthus
congenital glaucoma
partial aniridia

Neuro:
mental retardation

Clinical features from OMIM:

206750

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:

40
Eye

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

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

# Title Authors PMID Year
1
Letter: A syndrome of partial aniridia, unilateral renal agenesis, and mild psychomotor retardation in siblings. 56
4419812 1974
2
Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome. 56
4633364 1973

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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