MCID: RTN207
MIFTS: 19

Retinopathy, Pigmentary, and Mental Retardation

Categories: Mental diseases, Neuronal diseases
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Aliases & Classifications for Retinopathy, Pigmentary, and Mental Retardation

MalaCards integrated aliases for Retinopathy, Pigmentary, and Mental Retardation:

Name: Retinopathy, Pigmentary, and Mental Retardation 57
Mirhosseini-Holmes-Walton Syndrome 57 75 71

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
possibly allelic to cohen syndrome


Classifications:



Summaries for Retinopathy, Pigmentary, and Mental Retardation

MalaCards based summary: Retinopathy, Pigmentary, and Mental Retardation, also known as mirhosseini-holmes-walton syndrome, is related to microcephaly with or without chorioretinopathy, lymphedema, or mental retardation and cohen syndrome. Affiliated tissues include retina, and related phenotypes are scoliosis and cataract

Wikipedia: 75 Mirhosseini-Holmes-Walton syndrome is a syndrome which involves retinal degeneration, cataract,... more...

More information from OMIM: 268050

Related Diseases for Retinopathy, Pigmentary, and Mental Retardation

Diseases related to Retinopathy, Pigmentary, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.5
2 cohen syndrome 10.5
3 cone-rod dystrophy 2 10.4
4 retinitis pigmentosa 10.4
5 spastic cerebral palsy 10.4
6 microcephaly 10.4
7 cerebral palsy 10.4

Graphical network of the top 20 diseases related to Retinopathy, Pigmentary, and Mental Retardation:



Diseases related to Retinopathy, Pigmentary, and Mental Retardation

Symptoms & Phenotypes for Retinopathy, Pigmentary, and Mental Retardation

Human phenotypes related to Retinopathy, Pigmentary, and Mental Retardation:

30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 HP:0002650
2 cataract 30 HP:0000518
3 microcephaly 30 HP:0000252
4 intellectual disability, severe 30 HP:0010864
5 myopia 30 HP:0000545
6 arachnodactyly 30 HP:0001166
7 joint hypermobility 30 HP:0001382
8 reduced visual acuity 30 HP:0007663
9 intellectual disability, progressive 30 HP:0006887
10 truncal obesity 30 HP:0001956
11 narrow palm 30 HP:0004283
12 hypogonadism 30 HP:0000135
13 pigmentary retinopathy 30 HP:0000580
14 moderately short stature 30 HP:0008848

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Head:
microcephaly

Skeletal Hands:
arachnodactyly
narrow hands

Neurologic Central Nervous System:
severe mental retardation

Skeletal Limbs:
hyperextensible joints

Head And Neck Teeth:
prominent incisors

Head And Neck Eyes:
myopia
decreased visual acuity
retinal pigmentary degeneration

Growth Weight:
truncal obesity

Growth Height:
short stature, moderate

Skeletal Feet:
narrow feet

Clinical features from OMIM®:

268050 (Updated 24-Oct-2022)

Drugs & Therapeutics for Retinopathy, Pigmentary, and Mental Retardation

Search Clinical Trials, NIH Clinical Center for Retinopathy, Pigmentary, and Mental Retardation

Genetic Tests for Retinopathy, Pigmentary, and Mental Retardation

Anatomical Context for Retinopathy, Pigmentary, and Mental Retardation

Organs/tissues related to Retinopathy, Pigmentary, and Mental Retardation:

MalaCards : Retina

Publications for Retinopathy, Pigmentary, and Mental Retardation

Articles related to Retinopathy, Pigmentary, and Mental Retardation:

# Title Authors PMID Year
1
Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical? 62 57
3096139 1986
2
The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients. 62 57
4050854 1985
3
The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type? 57
2240027 1990
4
Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation. 57
5046629 1972
5
Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome. 62
1785634 1991

Variations for Retinopathy, Pigmentary, and Mental Retardation

Expression for Retinopathy, Pigmentary, and Mental Retardation

Search GEO for disease gene expression data for Retinopathy, Pigmentary, and Mental Retardation.

Pathways for Retinopathy, Pigmentary, and Mental Retardation

GO Terms for Retinopathy, Pigmentary, and Mental Retardation

Sources for Retinopathy, Pigmentary, and Mental Retardation

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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