MRD57
MCID: MNT334
MIFTS: 21

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 57 75 6
Mrd57 57 75

Characteristics:

OMIM:

57
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 57 618050
MedGen 42 CN252334
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 57

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include skin, bone and eye.

OMIM : 57 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 Dominant 19 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
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 57

Symptoms via clinical synopsis from OMIM:

57
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

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 57:

41
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 57

Variations for Mental Retardation, Autosomal Dominant 57

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TLK2 NM_006852.3(TLK2): c.2092C> T (p.Arg698Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 60689765: 60689765
2 TLK2 NM_006852.3(TLK2): c.2092C> T (p.Arg698Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 62612404: 62612404
3 TLK2 NM_006852.3(TLK2): c.1720+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60678182: 60678182
4 TLK2 NM_006852.3(TLK2): c.1720+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62600821: 62600821
5 TLK2 NM_006852.3(TLK2): c.989C> A (p.Ser330Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60650596: 60650596
6 TLK2 NM_006852.3(TLK2): c.989C> A (p.Ser330Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62573235: 62573235
7 TLK2 NM_006852.3(TLK2): c.1460+2T> G single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60663589: 60663589
8 TLK2 NM_006852.3(TLK2): c.1460+2T> G single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62586228: 62586228
9 TLK2 NM_006852.3(TLK2): c.890G> A (p.Gly297Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 62565059: 62565059
10 TLK2 NM_006852.3(TLK2): c.890G> A (p.Gly297Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 60642420: 60642420

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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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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