MRT39
MCID: MNT166
MIFTS: 25

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 58 76 30 6 74
Mrt39 58 76
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome 60
Mental Retardation, Autosomal Recessive, Type 39 41

Characteristics:

Orphanet epidemiological data:

60
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
mental retardation, autosomal recessive 39:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 39

UniProtKB/Swiss-Prot : 76 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 and t cells, and related phenotypes are intellectual disability and macrotia

Description from OMIM: 615541

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 Dominant 27
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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 macrotia 33 HP:0000400
3 global developmental delay 33 HP:0001263
4 delayed speech and language development 33 HP:0000750
5 microcephaly 33 HP:0000252
6 short stature 33 HP:0004322
7 stereotypy 33 HP:0000733
8 strabismus 33 HP:0000486
9 kyphoscoliosis 33 HP:0002751
10 deeply set eye 33 HP:0000490
11 aggressive behavior 33 HP:0000718
12 synophrys 33 HP:0000664
13 sloping forehead 33 HP:0000340
14 hyperactivity 33 HP:0000752
15 prominent nose 33 HP:0000448
16 anteverted ears 33 HP:0040080

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Skeletal Spine:
kyphoscoliosis

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
stereotyped behavior
aggression

Head And Neck Ears:
large ears
anteverted ears

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

Immunology:
decreased circulating naive t cells (1 family)

Head And Neck Eyes:
strabismus
synophrys
deep-set eyes

Head And Neck Face:
sloping forehead

Head And Neck Nose:
prominent nose

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

Head And Neck Teeth:
malposition of the teeth

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 30 TTI2

Anatomical Context for Mental Retardation, Autosomal Recessive 39

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

42
Eye, T Cells

Publications for Mental Retardation, Autosomal Recessive 39

Variations for Mental Retardation, Autosomal Recessive 39

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

76
# Symbol AA change Variation ID SNP ID
1 TTI2 p.Ile436Asn VAR_070671 rs398122367

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTI2 NM_025115.3(TTI2): c.1100C> T (p.Pro367Leu) single nucleotide variant Pathogenic rs398122366 GRCh37 Chromosome 8, 33361281: 33361281
2 TTI2 NM_025115.3(TTI2): c.1100C> T (p.Pro367Leu) single nucleotide variant Pathogenic rs398122366 GRCh38 Chromosome 8, 33503763: 33503763
3 TTI2 NM_025115.3(TTI2): c.1307T> A (p.Ile436Asn) single nucleotide variant Pathogenic rs398122367 GRCh37 Chromosome 8, 33357961: 33357961
4 TTI2 NM_025115.3(TTI2): c.1307T> A (p.Ile436Asn) single nucleotide variant Pathogenic rs398122367 GRCh38 Chromosome 8, 33500443: 33500443

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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