MRT39
MCID: MNT166
MIFTS: 26

Mental Retardation, Autosomal Recessive 39 (MRT39)

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

Aliases & Classifications for Mental Retardation, Autosomal Recessive 39

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 39:

Name: Mental Retardation, Autosomal Recessive 39 56 73 29 6 71
Mrt39 56 73
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome 58
Mental Retardation, Autosomal Recessive, Type 39 39

Characteristics:

Orphanet epidemiological data:

58
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two unrelated families have been reported (last curated november 2013)
dysmorphic facial features reported in 1 family


HPO:

31
mental retardation, autosomal recessive 39:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Recessive 39

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal recessive 39: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements.

MalaCards based summary : Mental Retardation, Autosomal Recessive 39, is also known as mrt39. An important gene associated with Mental Retardation, Autosomal Recessive 39 is TTI2 (TELO2 Interacting Protein 2). Affiliated tissues include eye, t cells and brain, and related phenotypes are macrotia and global developmental delay

More information from OMIM: 615541 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 39

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
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 Dominant 18
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 24
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 Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 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 55 Mental Retardation, Autosomal Dominant 44
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 Dominant 49
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 39

Human phenotypes related to Mental Retardation, Autosomal Recessive 39:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 58 31 Occasional (29-5%) HP:0000400
2 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 Frequent (79-30%) HP:0000750
4 short stature 58 31 Frequent (79-30%) HP:0004322
5 microcephaly 58 31 Very frequent (99-80%) HP:0000252
6 sloping forehead 58 31 Occasional (29-5%) HP:0000340
7 stereotypy 58 31 Frequent (79-30%) HP:0000733
8 hyperactivity 58 31 Occasional (29-5%) HP:0000752
9 strabismus 58 31 Occasional (29-5%) HP:0000486
10 kyphoscoliosis 58 31 Frequent (79-30%) HP:0002751
11 deeply set eye 58 31 Occasional (29-5%) HP:0000490
12 synophrys 58 31 Occasional (29-5%) HP:0000664
13 aggressive behavior 58 31 Frequent (79-30%) HP:0000718
14 prominent nose 58 31 Occasional (29-5%) HP:0000448
15 intellectual disability 31 HP:0001249
16 sleep disturbance 58 Frequent (79-30%)
17 scoliosis 58 Frequent (79-30%)
18 behavioral abnormality 58 Frequent (79-30%)
19 abnormality of the dentition 58 Occasional (29-5%)
20 abnormal facial shape 58 Very frequent (99-80%)
21 intellectual disability, moderate 58 Occasional (29-5%)
22 intellectual disability, severe 58 Very frequent (99-80%)
23 myotonia 58 Occasional (29-5%)
24 irritability 58 Occasional (29-5%)
25 premature ovarian insufficiency 58 Occasional (29-5%)
26 2-3 toe syndactyly 58 Occasional (29-5%)
27 thin vermilion border 58 Occasional (29-5%)
28 abnormality of the cerebral white matter 58 Occasional (29-5%)
29 lymphopenia 58 Occasional (29-5%)
30 hypoplasia of the corpus callosum 58 Occasional (29-5%)
31 anteverted ears 31 HP:0040080

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
stereotyped behavior
aggression

Skeletal Spine:
kyphoscoliosis

Head And Neck Ears:
anteverted ears
large ears

Head And Neck Teeth:
malposition of the teeth

Immunology:
decreased circulating naive t cells (1 family)

Head And Neck Face:
sloping forehead

Head And Neck Eyes:
strabismus
synophrys
deep-set eyes

Head And Neck Nose:
prominent nose

Neurologic Central Nervous System:
delayed psychomotor development
mental retardation, moderate to severe
speech delay, severe

Head And Neck Head:
microcephaly (-3 to -4 sd)

Clinical features from OMIM:

615541

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 39

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 39

Genetic Tests for Mental Retardation, Autosomal Recessive 39

Genetic tests related to Mental Retardation, Autosomal Recessive 39:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 39 29 TTI2

Anatomical Context for Mental Retardation, Autosomal Recessive 39

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 39:

40
Eye, T Cells, Brain

Publications for Mental Retardation, Autosomal Recessive 39

Articles related to Mental Retardation, Autosomal Recessive 39:

# Title Authors PMID Year
1
Mutation in TTI2 reveals a role for triple T complex in human brain development. 56 6
23956177 2013
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 56
21937992 2011
3
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability. 61
31290144 2019

Variations for Mental Retardation, Autosomal Recessive 39

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 39:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTI2 NM_025115.4(TTI2):c.1100C>T (p.Pro367Leu)SNV Pathogenic 88867 rs398122366 8:33361281-33361281 8:33503763-33503763
2 TTI2 NM_032509.4(MAK16):c.*1814A>TSNV Pathogenic 88868 rs398122367 8:33357961-33357961 8:33500443-33500443

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 39:

73
# Symbol AA change Variation ID SNP ID
1 TTI2 p.Ile436Asn VAR_070671 rs398122367

Expression for Mental Retardation, Autosomal Recessive 39

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 39.

Pathways for Mental Retardation, Autosomal Recessive 39

GO Terms for Mental Retardation, Autosomal Recessive 39

Sources for Mental Retardation, Autosomal Recessive 39

3 CDC
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10 dbSNP
11 DGIdb
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18 ExPASy
19 FMA
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32 ICD10
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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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