GUST
MCID: MNT308
MIFTS: 27

Mental Retardation with Optic Atrophy, Deafness, and Seizures (GUST)

Categories: Eye diseases, Neuronal 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
Gustavson Syndrome 57 13
Severe X-Linked Intellectual Disability, Gustavson Type 58
X-Linked Mental Retardation Gustavson Type 70
Gustavson Syndrome; Gust 57
Gust 57

Characteristics:

Orphanet epidemiological data:

58
severe x-linked intellectual disability, gustavson type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked (xq26)


HPO:

31
mental retardation with optic atrophy, deafness, and seizures:
Inheritance x-linked inheritance
Onset and clinical course death in childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM® 57 309555
ICD10 via Orphanet 33 F72.9
UMLS via Orphanet 71 C0795965
Orphanet 58 ORPHA3078
MedGen 41 C0795965
UMLS 70 C0795965

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

MalaCards based summary : Mental Retardation with Optic Atrophy, Deafness, and Seizures, also known as gustavson syndrome, 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). The drugs Liraglutide and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and colon, and related phenotypes are spasticity and microcephaly

More information 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 11.1

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

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

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 Frequent (79-30%) HP:0001257
2 microcephaly 58 31 Very frequent (99-80%) HP:0000252
3 optic atrophy 58 31 Very frequent (99-80%) HP:0000648
4 blindness 58 31 Frequent (79-30%) HP:0000618
5 intellectual disability 31 HP:0001249
6 seizures 58 Very frequent (99-80%)
7 hearing impairment 31 HP:0000365
8 macrotia 58 Occasional (29-5%)
9 short nose 58 Occasional (29-5%)
10 hypertonia 58 Very frequent (99-80%)
11 intellectual disability, severe 58 Frequent (79-30%)
12 recurrent upper respiratory tract infections 58 Frequent (79-30%)
13 myoclonus 58 Occasional (29-5%)
14 micrognathia 58 Occasional (29-5%)
15 congenital hip dislocation 58 Occasional (29-5%)
16 vesicoureteral reflux 58 Occasional (29-5%)
17 dandy-walker malformation 58 Occasional (29-5%)
18 ventricular septal defect 58 Occasional (29-5%)
19 large fontanelles 58 Occasional (29-5%)
20 severe muscular hypotonia 58 Occasional (29-5%)
21 triphalangeal thumb 58 Occasional (29-5%)
22 cerebellar hypoplasia 58 Occasional (29-5%)
23 severe postnatal growth retardation 58 Very frequent (99-80%)
24 rocker bottom foot 58 Occasional (29-5%)
25 small for gestational age 58 Frequent (79-30%)
26 abnormality of the pinna 58 Occasional (29-5%)
27 brain atrophy 58 Frequent (79-30%)
28 severely reduced visual acuity 31 HP:0001141
29 apneic episodes in infancy 58 Frequent (79-30%)
30 contractures of the large joints 58 Occasional (29-5%)
31 equinovarus deformity 58 Occasional (29-5%)
32 dilation of lateral ventricles 58 Occasional (29-5%)
33 dilated fourth ventricle 58 Frequent (79-30%)
34 calcaneovalgus deformity 58 Occasional (29-5%)
35 nasogastric tube feeding 58 Frequent (79-30%)
36 profound hearing impairment 58 Very frequent (99-80%)
37 small fontanelle 58 Frequent (79-30%)
38 restricted large joint movement 31 HP:0005193
39 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
seizures
spasticity
mental retardation

Eyes:
optic atrophy
blindness
severely impaired vision

Ears:
severe hearing defect

Head:
microcephaly

Joints:
restricted large joint movement

Misc:
infantile or early childhood death

Clinical features from OMIM®:

309555 (Updated 05-Apr-2021)

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


seizures

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

Drugs for Mental Retardation with Optic Atrophy, Deafness, and Seizures (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved 204656-20-2 44147092
2 Hormone Antagonists
3 Incretins
4 Glucagon-Like Peptide 1
5 Hormones
6 Hypoglycemic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence du Victoza (Liraglutide,Analogue GLP-1) Sur Les Performances Gustatives, le Rassasiement Sensoriel spécifique, le Liking et le Wanting Chez Les Patients diabétiques de Type 2. Completed NCT01599338 Liraglutide

Search 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:

40
Eye, Brain, Colon, Adipocyte, Lung, Endothelial

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

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

(show top 50) (show all 160)
# Title Authors PMID Year
1
Linkage mapping of a severe X-linked mental retardation syndrome. 57
8503440 1993
2
New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death. 57
8456840 1993
3
The impact of super-typhoon Mangkhut on sediment nutrient density and fluxes in a mangrove forest in Hong Kong. 61
33071132 2021
4
Effects of meteorological factors and groundwater depths on plant sap flow velocities in karst critical zone. 61
33812103 2021
5
Tropical cyclone simulations over Bangladesh at convection permitting 4.4 km & 1.5 km resolution. 61
33594085 2021
6
Effects of weather, air pollution and Oktoberfest on ambulance-transported emergency department admissions in Munich, Germany. 61
33229084 2021
7
Combining application of wavelet analysis and genetic algorithm in wind tunnel simulation of unidirectional natural wind field near a sand ground surface. 61
33514198 2021
8
Correlation of ambient temperature and COVID-19 incidence in Canada. 61
32829260 2021
9
Intensified impacts on mortality due to compound winter extremes in the Czech Republic. 61
32750577 2020
10
Impact of Wind Gust on High-Speed Characteristics of Polarization Mode Dispersion in Optical Power Ground Wire Cables. 61
33322415 2020
11
Mechanical Forcing of Convection by Cold Pools: Collisions and Energy Scaling. 61
33680288 2020
12
Bird wings act as a suspension system that rejects gusts. 61
33081609 2020
13
Influence of wind and relative humidity on the social distancing effectiveness to prevent COVID-19 airborne transmission: A numerical study. 61
32427227 2020
14
Road to Recovery: COVID-19 Tests, Bends, and Breaks Texas Practices. 61
32866271 2020
15
Field Monitoring and Analysis of the Vibration of Stay Cables under Typhoon Conditions. 61
32806788 2020
16
Wing rapid responses and aerodynamics of fruit flies during headwind gust perturbations. 61
32470950 2020
17
Design and Intensive Experimental Evaluation of an Enhanced Visible Light Communication System for Automotive Applications. 61
32512759 2020
18
Assessing and managing design storm variability and projection uncertainty in a changing coastal environment. 61
32250914 2020
19
Particle-Based Tracking of Cold Pool Gust Fronts. 61
32714494 2020
20
Physical and chemical mechanisms of the daily-to-seasonal variation of PM10 in Korea. 61
31931224 2020
21
Predicting Salmonella prevalence associated with meteorological factors in pastured poultry farms in southeastern United States. 61
32019007 2020
22
Fine gust front structure observed by coherent Doppler lidar at Lanzhou Airport (103°49$^{\prime}$'E, 36°03$^{\prime}$'N). 61
32225816 2020
23
Somatic selection distinguishes oncogenes and tumor suppressor genes. 61
32176769 2020
24
Strong Wind Characteristics and Buffeting Response of a Cable-Stayed Bridge under Construction. 61
32102308 2020
25
Improved integral backstepping control of variable speed motion systems with application to a laboratory helicopter. 61
31327468 2020
26
Impact of forest thinning on the dynamics of litterfall derived 137Cs deposits in coniferous forest floor after Fukushima accident. 61
31518924 2020
27
Altitudinal variation in butterfly community associated with climate and vegetation. 61
33146275 2020
28
FEA Simulation of the Biomechanical Structure Overload in the University Campus Planting. 61
33488766 2020
29
The stability of leading-edge vortices to perturbations on samara-inspired rotors: a novel solution for gust resistance. 61
31698344 2019
30
A contralateral wing stabilizes a hovering hawkmoth under a lateral gust. 61
31757991 2019
31
Monitoring of Low-Level Wind Shear by Ground-based 3D Lidar for Increased Flight Safety, Protection of Human Lives and Health. 61
31752438 2019
32
How lovebirds maneuver through lateral gusts with minimal visual information. 61
31289235 2019
33
In-Situ Data-Driven Buffeting Response Analysis of a Cable-Stayed Bridge. 61
31295939 2019
34
Development and validation of improved PM2.5 models for public health applications using remotely sensed aerosol and meteorological data. 61
31254078 2019
35
[Pediatric polygraphy: A 6-year experience]. 61
31344191 2019
36
Large-scale turbulence structures in a laboratory-scale boundary layer under steady and gusty wind inflows. 61
31253852 2019
37
Development and Deployment of Air-Launched Drifters from Small UAS. 61
31075892 2019
38
On the effect of streamwise disturbance on the airfoil-turbulence interaction noise. 61
31046306 2019
39
Avoiding topsy-turvy: how Anna's hummingbirds (Calypte anna) fly through upward gusts. 61
30718291 2019
40
Modification of Drug Crystallization by Cyclodextrins in Pre-formulation Study. 61
31474729 2019
41
Land-Atmosphere Responses to a Total Solar Eclipse in Three Ecosystems With Contrasting Structure and Physiology. 61
31080699 2019
42
Rainfall effects on the erodibility of sediment and microphytobenthos in the intertidal flat. 61
30231459 2018
43
Neural-inspired sensors enable sparse, efficient classification of spatiotemporal data. 61
30213850 2018
44
Bees with attitude: the effects of directed gusts on flight trajectories. 61
30135080 2018
45
Effects of vegetation and fecal pellets on the erodibility of cohesive sediments: Ganghwa tidal flat, west coast of Korea. 61
29879687 2018
46
Aerodynamic robustness in owl-inspired leading-edge serrations: a computational wind-gust model. 61
29882513 2018
47
Dual-Stimulus-Triggered Programmable Drug Release and Luminescent Ratiometric pH Sensing from Chemically Stable Biocompatible Zinc Metal-Organic Framework. 61
29877692 2018
48
Role of Sediment Resuspension on Estuarine Suspended Particulate Mercury Dynamics. 61
29927238 2018
49
On the frequency domain formulation of the generalized sound extrapolation method. 61
30075634 2018
50
The Melbourne epidemic thunderstorm asthma event 2016: an investigation of environmental triggers, effect on health services, and patient risk factors. 61
29880157 2018

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....