MRT36
MCID: MNT183
MIFTS: 29

Mental Retardation, Autosomal Recessive 36 (MRT36)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 36

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 36:

Name: Mental Retardation, Autosomal Recessive 36 57 72 29 6 70
Mrt36 57 72
Mental Retardation, Autosomal Recessive, Type 36 39
Intellectual Disability-Strabismus Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-strabismus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable features may be present


HPO:

31
mental retardation, autosomal recessive 36:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Mental Retardation, Autosomal Recessive 36

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 36: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT36 is often associated with esotropia and failure to thrive. Other more variable features included microcephaly, hypotonia, and mild brain abnormalities on MRI, such as dilated ventricles or delayed myelination.

MalaCards based summary : Mental Retardation, Autosomal Recessive 36, is also known as mrt36. An important gene associated with Mental Retardation, Autosomal Recessive 36 is ADAT3 (Adenosine Deaminase TRNA Specific 3). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and failure to thrive

More information from OMIM: 615286 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 36

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 36

Human phenotypes related to Mental Retardation, Autosomal Recessive 36:

58 31 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
4 spasticity 58 31 very rare (1%) Frequent (79-30%) HP:0001257
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
7 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
8 microcephaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0000252
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
11 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
12 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
13 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
14 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
15 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
16 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
18 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
19 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
20 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
21 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
22 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
23 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
24 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
25 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
26 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
27 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
28 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
29 achilles tendon contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001771
30 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
31 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
32 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
33 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
34 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
35 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
36 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
37 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
38 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
39 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
40 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
41 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
42 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
43 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
44 sloping forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000340
45 rocker bottom foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001838
46 prominent nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000448
47 aggressive behavior 58 31 very rare (1%) Occasional (29-5%) HP:0000718
48 hyperactivity 58 31 very rare (1%) Occasional (29-5%) HP:0000752
49 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
50 brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012444

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Head And Neck Head:
microcephaly

Head And Neck Face:
prominent forehead
high forehead
dysmorphic facial features (in some patients)

Neurologic Central Nervous System:
brain atrophy
delayed myelination
hypotonia
mental retardation
spasticity (in some patients)
more
Endocrine Features:
growth hormone deficiency (in 1 patient)
hypothyroidism (in 1 patient)
endocrine abnormalities (rare)

Laboratory Abnormalities:
low igf-1 (in 1 family)

Head And Neck Nose:
depressed nasal bridge

Growth Height:
short stature

Head And Neck Eyes:
epicanthus
telecanthus
esotropia
upslanting palpebral fissures
strabismus (in most patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)
hyperactive behavior (in some patients)

Head And Neck Ears:
recurrent otitis media (in 1 family)

Clinical features from OMIM®:

615286 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 36

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 36

Genetic Tests for Mental Retardation, Autosomal Recessive 36

Genetic tests related to Mental Retardation, Autosomal Recessive 36:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 36 29 ADAT3

Anatomical Context for Mental Retardation, Autosomal Recessive 36

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 36:

40
Eye, Brain

Publications for Mental Retardation, Autosomal Recessive 36

Articles related to Mental Retardation, Autosomal Recessive 36:

# Title Authors PMID Year
1
A novel 8-bp duplication in ADAT3 causes mild intellectual disability. 6 57
29796286 2018
2
ADAT3-related intellectual disability: Further delineation of the phenotype. 6 57
26842963 2016
3
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. 6 57
23620220 2013
4
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020

Variations for Mental Retardation, Autosomal Recessive 36

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 36:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.430G>A (p.Val144Met) SNV Pathogenic 183301 rs730882213 GRCh37: 19:1912476-1912476
GRCh38: 19:1912477-1912477
2 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.239C>A (p.Ser80Ter) SNV Pathogenic 1027712 GRCh37: 19:1912285-1912285
GRCh38: 19:1912286-1912286
3 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.99_106dup (p.Glu36fs) Duplication Pathogenic 549839 rs746859902 GRCh37: 19:1912140-1912141
GRCh38: 19:1912141-1912142
4 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.930C>A (p.Cys310Ter) SNV Pathogenic 1033079 GRCh37: 19:1912976-1912976
GRCh38: 19:1912977-1912977
5 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.820dup (p.Gln274fs) Duplication Uncertain significance 983080 GRCh37: 19:1912860-1912861
GRCh38: 19:1912861-1912862
6 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.54G>C (p.Glu18Asp) SNV Uncertain significance 1029127 GRCh37: 19:1912100-1912100
GRCh38: 19:1912101-1912101
7 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.1001G>T (p.Gly334Val) SNV Uncertain significance 1032417 GRCh37: 19:1913047-1913047
GRCh38: 19:1913048-1913048
8 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.338C>G (p.Ala113Gly) SNV Uncertain significance 1032418 GRCh37: 19:1912384-1912384
GRCh38: 19:1912385-1912385
9 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.59C>T (p.Ala20Val) SNV Uncertain significance 434081 rs764240025 GRCh37: 19:1912105-1912105
GRCh38: 19:1912106-1912106
10 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.751G>A (p.Gly251Ser) SNV Uncertain significance 975317 GRCh37: 19:1912797-1912797
GRCh38: 19:1912798-1912798
11 ADAT3 , SCAMP4 NM_138422.4(ADAT3):c.897C>G (p.Asp299Glu) SNV Uncertain significance 1033078 GRCh37: 19:1912943-1912943
GRCh38: 19:1912944-1912944

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 36:

72
# Symbol AA change Variation ID SNP ID
1 ADAT3 p.Val128Met VAR_069778

Expression for Mental Retardation, Autosomal Recessive 36

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 36.

Pathways for Mental Retardation, Autosomal Recessive 36

GO Terms for Mental Retardation, Autosomal Recessive 36

Sources for Mental Retardation, Autosomal Recessive 36

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