MCID: MNT308
MIFTS: 18

Mental Retardation with Optic Atrophy, Deafness, and Seizures

Categories: Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Mental Retardation with Optic Atrophy, Deafness, and Seizures

MalaCards integrated aliases for Mental Retardation with Optic Atrophy, Deafness, and Seizures:

Name: Mental Retardation with Optic Atrophy, Deafness, and Seizures 57
Severe X-Linked Intellectual Disability, Gustavson Type 59
X-Linked Mental Retardation Gustavson Type 73
Gustavson Syndrome; Gust 57
Gustavson Syndrome 57
Gust 57

Characteristics:

Orphanet epidemiological data:

59
severe x-linked intellectual disability, gustavson type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked (xq26)


HPO:

32
mental retardation with optic atrophy, deafness, and seizures:
Inheritance x-linked inheritance
Mortality/Aging death in childhood


Classifications:



Summaries for Mental Retardation with Optic Atrophy, Deafness, and Seizures

MalaCards based summary : Mental Retardation with Optic Atrophy, Deafness, and Seizures, also known as severe x-linked intellectual disability, gustavson type, is related to severe x-linked intellectual disability, gustavson type, and has symptoms including seizures An important gene associated with Mental Retardation with Optic Atrophy, Deafness, and Seizures is GUST (Gustavson Mental Retardation Syndrome (With Microcephaly, Optic). Affiliated tissues include eye, and related phenotypes are microcephaly and hearing impairment

Description from OMIM: 309555

Related Diseases for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Diseases related to Mental Retardation with Optic Atrophy, Deafness, and Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 severe x-linked intellectual disability, gustavson type 11.3

Symptoms & Phenotypes for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Symptoms via clinical synopsis from OMIM:

57
Neuro:
mental retardation
spasticity
seizures

Eyes:
optic atrophy
severely impaired vision
blindness

Joints:
restricted large joint movement

Head:
microcephaly

Ears:
severe hearing defect

Misc:
infantile or early childhood death


Clinical features from OMIM:

309555

Human phenotypes related to Mental Retardation with Optic Atrophy, Deafness, and Seizures:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 hearing impairment 32 HP:0000365
3 blindness 32 HP:0000618
4 optic atrophy 32 HP:0000648
5 severe visual impairment 32 HP:0001141
6 intellectual disability 32 HP:0001249
7 seizures 32 HP:0001250
8 spasticity 32 HP:0001257
9 restricted large joint movement 32 HP:0005193

UMLS symptoms related to Mental Retardation with Optic Atrophy, Deafness, and Seizures:


seizures

Drugs & Therapeutics for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Search Clinical Trials , NIH Clinical Center for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Genetic Tests for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Anatomical Context for Mental Retardation with Optic Atrophy, Deafness, and Seizures

MalaCards organs/tissues related to Mental Retardation with Optic Atrophy, Deafness, and Seizures:

41
Eye

Publications for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Variations for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Expression for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Search GEO for disease gene expression data for Mental Retardation with Optic Atrophy, Deafness, and Seizures.

Pathways for Mental Retardation with Optic Atrophy, Deafness, and Seizures

GO Terms for Mental Retardation with Optic Atrophy, Deafness, and Seizures

Sources for Mental Retardation with Optic Atrophy, Deafness, and Seizures

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
Content
Loading form....