MRD57
MCID: MNT334
MIFTS: 19

Mental Retardation, Autosomal Dominant 57 (MRD57)

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 Dominant 57

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 57:

Name: Mental Retardation, Autosomal Dominant 57 58 76 6
Mrd57 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation (in most patients) percentages noted above are estimates from reijnders et al. (2018)


Classifications:



External Ids:

OMIM 58 618050
MeSH 45 D008607
MedGen 43 CN252334

Summaries for Mental Retardation, Autosomal Dominant 57

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 57: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD57 is characterized by delayed psychomotor development apparent in infancy or early childhood, and a variety of behavioral abnormalities. Affected individuals may have severe gastro-intestinal problems, and facial dysmorphism. MRD57 inheritance is autosomal dominant.

MalaCards based summary : Mental Retardation, Autosomal Dominant 57, is also known as mrd57. An important gene associated with Mental Retardation, Autosomal Dominant 57 is TLK2 (Tousled Like Kinase 2).

OMIM : 58 MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018). (618050)

Related Diseases for Mental Retardation, Autosomal Dominant 57

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 Dominant 57

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
high palate
narrow mouth
thin vermilion of the upper lip

Abdomen Gastrointestinal:
constipation
feeding difficulties
diarrhea

Neurologic Central Nervous System:
global developmental delay
toe walking
motor delay
language delay
intellectual disability, mild to moderate
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
obsessive-compulsive disorder
tantrums
autism spectrum disorder
attention deficit-hyperactivity disorder (adhd)

Skeletal:
joint hypermobility

Head And Neck Ears:
otitis media
posteriorly rotated ears

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (37%)

Skeletal Skull:
craniosynostosis (11%)

Head And Neck Eyes:
ptosis
strabismus
telecanthus
blepharophimosis
epicanthal folds
more
Skeletal Spine:
scoliosis
kyphosis

Skeletal Feet:
pes planus

Head And Neck Nose:
prominent nasal bridge
broad nasal tip

Head And Neck Face:
long face
asymmetric face
pointed tall chin

Skin Nails Hair Hair:
hypertrichosis

Skeletal Hands:
finger contractures

Head And Neck Head:
microcephaly (24%)

Clinical features from OMIM:

618050

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 57

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 57

Genetic Tests for Mental Retardation, Autosomal Dominant 57

Anatomical Context for Mental Retardation, Autosomal Dominant 57

Publications for Mental Retardation, Autosomal Dominant 57

Variations for Mental Retardation, Autosomal Dominant 57

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 57:

76
# Symbol AA change Variation ID SNP ID
1 TLK2 p.His493Arg VAR_081028
2 TLK2 p.His518Arg VAR_081029
3 TLK2 p.Arg568Trp VAR_081030 rs128383828
4 TLK2 p.Asp629Asn VAR_081032
5 TLK2 p.Pro680Arg VAR_081033

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 57:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 TLK2 NM_006852.3(TLK2): c.2092C> T (p.Arg698Ter) single nucleotide variant Uncertain significance rs1555669421 GRCh37 Chromosome 17, 60689765: 60689765
2 TLK2 NM_006852.3(TLK2): c.2092C> T (p.Arg698Ter) single nucleotide variant Uncertain significance rs1555669421 GRCh38 Chromosome 17, 62612404: 62612404
3 TLK2 NM_006852.3(TLK2): c.1720+1G> T single nucleotide variant Pathogenic rs1555660806 GRCh37 Chromosome 17, 60678182: 60678182
4 TLK2 NM_006852.3(TLK2): c.1720+1G> T single nucleotide variant Pathogenic rs1555660806 GRCh38 Chromosome 17, 62600821: 62600821
5 TLK2 NM_006852.3(TLK2): c.989C> A (p.Ser330Ter) single nucleotide variant Pathogenic rs1555644480 GRCh37 Chromosome 17, 60650596: 60650596
6 TLK2 NM_006852.3(TLK2): c.989C> A (p.Ser330Ter) single nucleotide variant Pathogenic rs1555644480 GRCh38 Chromosome 17, 62573235: 62573235
7 TLK2 NM_006852.3(TLK2): c.1460+2T> G single nucleotide variant Pathogenic rs1555651572 GRCh37 Chromosome 17, 60663589: 60663589
8 TLK2 NM_006852.3(TLK2): c.1460+2T> G single nucleotide variant Pathogenic rs1555651572 GRCh38 Chromosome 17, 62586228: 62586228
9 TLK2 NM_006852.3(TLK2): c.890G> A (p.Gly297Asp) single nucleotide variant Uncertain significance rs1555639254 GRCh38 Chromosome 17, 62565059: 62565059
10 TLK2 NM_006852.3(TLK2): c.890G> A (p.Gly297Asp) single nucleotide variant Uncertain significance rs1555639254 GRCh37 Chromosome 17, 60642420: 60642420
11 TLK2 NM_001284333.1(TLK2): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62481162: 62481162
12 TLK2 NM_001284333.1(TLK2): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60558523: 60558523
13 TLK2 NM_001284333.1(TLK2): c.181C> T (p.Arg61Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62522231: 62522231
14 TLK2 NM_001284333.1(TLK2): c.181C> T (p.Arg61Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60599592: 60599592
15 TLK2 NM_001284333.1(TLK2): c.202G> T (p.Glu68Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62522252: 62522252
16 TLK2 NM_001284333.1(TLK2): c.202G> T (p.Glu68Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60599613: 60599613
17 TLK2 NM_001284333.1(TLK2): c.777C> A (p.Tyr259Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62560072: 62560072
18 TLK2 NM_001284333.1(TLK2): c.777C> A (p.Tyr259Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60637433: 60637433
19 TLK2 NM_006852.3(TLK2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62560079: 62560079
20 TLK2 NM_006852.3(TLK2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60637440: 60637440
21 TLK2 NM_006852.3(TLK2): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62565076: 62565076
22 TLK2 NM_006852.3(TLK2): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60642437: 60642437
23 TLK2 NM_001284333.1(TLK2): c.1015C> T (p.Arg339Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 62573261: 62573261
24 TLK2 NM_001284333.1(TLK2): c.1015C> T (p.Arg339Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 60650622: 60650622
25 TLK2 NM_001284333.1(TLK2): c.1016G> A (p.Arg339Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 62573262: 62573262
26 TLK2 NM_001284333.1(TLK2): c.1016G> A (p.Arg339Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 60650623: 60650623
27 TLK2 NM_001284333.1(TLK2): c.1339G> A (p.Glu447Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 62578561: 62578561
28 TLK2 NM_001284333.1(TLK2): c.1339G> A (p.Glu447Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 60655922: 60655922
29 TLK2 NM_001284333.1(TLK2): c.1478A> G (p.His493Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 62586178: 62586178
30 TLK2 NM_001284333.1(TLK2): c.1478A> G (p.His493Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 60663539: 60663539
31 TLK2 NM_001284333.1(TLK2): c.1553A> G (p.His518Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 62596611: 62596611
32 TLK2 NM_001284333.1(TLK2): c.1553A> G (p.His518Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 60673972: 60673972
33 TLK2 NM_001284333.1(TLK2): c.1702C> T (p.Arg568Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 62600736: 62600736
34 TLK2 NM_001284333.1(TLK2): c.1702C> T (p.Arg568Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 60678097: 60678097
35 TLK2 NM_001284333.1(TLK2): c.1717C> T (p.Gln573Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62600751: 62600751
36 TLK2 NM_001284333.1(TLK2): c.1717C> T (p.Gln573Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60678112: 60678112
37 TLK2 NM_001284333.1(TLK2): c.1885G> A (p.Asp629Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 62602140: 62602140
38 TLK2 NM_001284333.1(TLK2): c.1885G> A (p.Asp629Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 60679501: 60679501
39 TLK2 NM_001284333.1(TLK2): c.2039C> G (p.Pro680Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 62608042: 62608042
40 TLK2 NM_001284333.1(TLK2): c.2039C> G (p.Pro680Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 60685403: 60685403
41 TLK2 NM_001284333.1(TLK2): c.2236C> T (p.Arg746Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 62612482: 62612482
42 TLK2 NM_001284333.1(TLK2): c.2236C> T (p.Arg746Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 60689843: 60689843

Expression for Mental Retardation, Autosomal Dominant 57

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 57.

Pathways for Mental Retardation, Autosomal Dominant 57

GO Terms for Mental Retardation, Autosomal Dominant 57

Sources for Mental Retardation, Autosomal Dominant 57

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