MRD51
MCID: MNT327
MIFTS: 24

Mental Retardation, Autosomal Dominant 51 (MRD51)

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 51

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 51:

Name: Mental Retardation, Autosomal Dominant 51 58 76 30 6
Mrd51 58 76
Autosomal Dominant Mental Retardation 51 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation (in most patients)
variable extraneurologic features
seven unrelated patients have been reported (last curated november 2017)


HPO:

33
mental retardation, autosomal dominant 51:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 51

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 51: 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.

MalaCards based summary : Mental Retardation, Autosomal Dominant 51, is also known as mrd51. An important gene associated with Mental Retardation, Autosomal Dominant 51 is KMT5B (Lysine Methyltransferase 5B). Affiliated tissues include skin, bone and eye, and related phenotypes are febrile seizures and intellectual disability

Description from OMIM: 617788

Related Diseases for Mental Retardation, Autosomal Dominant 51

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 51

Human phenotypes related to Mental Retardation, Autosomal Dominant 51:

33
# Description HPO Frequency HPO Source Accession
1 febrile seizures 33 very rare (1%) HP:0002373
2 intellectual disability 33 HP:0001249
3 global developmental delay 33 HP:0001263
4 delayed speech and language development 33 HP:0000750
5 autistic behavior 33 HP:0000729

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
foot deformities

Growth Height:
tendency toward taller height

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral problems
autism spectrum disorder

Neurologic Central Nervous System:
speech delay
delayed development
intellectual disability, variable
febrile seizures (in some patients)

Clinical features from OMIM:

617788

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 51

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 51

Genetic Tests for Mental Retardation, Autosomal Dominant 51

Genetic tests related to Mental Retardation, Autosomal Dominant 51:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 51 30 KMT5B

Anatomical Context for Mental Retardation, Autosomal Dominant 51

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 51:

42
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 51

Articles related to Mental Retardation, Autosomal Dominant 51:

# Title Authors Year
1
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. ( 29276005 )
2018
2
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. ( 28191889 )
2017
3
The contribution of de novo coding mutations to autism spectrum disorder. ( 25363768 )
2014

Variations for Mental Retardation, Autosomal Dominant 51

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 51:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 KMT5B NM_017635.4(KMT5B): c.725del (p.Leu242Hisfs) deletion Pathogenic rs1555028154 GRCh37 Chromosome 11, 67939105: 67939105
2 KMT5B NM_017635.4(KMT5B): c.725del (p.Leu242Hisfs) deletion Pathogenic rs1555028154 GRCh38 Chromosome 11, 68171638: 68171638
3 KMT5B NM_017635.4(KMT5B): c.1557_1558del (p.Asn520Serfs) deletion Pathogenic rs1555023232 GRCh38 Chromosome 11, 68158788: 68158789
4 KMT5B NM_017635.4(KMT5B): c.1557_1558del (p.Asn520Serfs) deletion Pathogenic rs1555023232 GRCh37 Chromosome 11, 67926255: 67926256
5 KMT5B NM_017635.4(KMT5B): c.791G> C (p.Trp264Ser) single nucleotide variant Uncertain significance rs1555028104 GRCh37 Chromosome 11, 67939039: 67939039
6 KMT5B NM_017635.4(KMT5B): c.791G> C (p.Trp264Ser) single nucleotide variant Uncertain significance rs1555028104 GRCh38 Chromosome 11, 68171572: 68171572
7 KMT5B NM_017635.4(KMT5B): c.255del (p.Ser86Valfs) deletion Pathogenic rs1555034768 GRCh37 Chromosome 11, 67953301: 67953301
8 KMT5B NM_017635.4(KMT5B): c.255del (p.Ser86Valfs) deletion Pathogenic rs1555034768 GRCh38 Chromosome 11, 68185834: 68185834
9 KMT5B NM_017635.4(KMT5B): c.219delC (p.Ala74Profs) deletion Pathogenic GRCh37 Chromosome 11, 67953337: 67953337
10 KMT5B NM_017635.4(KMT5B): c.219delC (p.Ala74Profs) deletion Pathogenic GRCh38 Chromosome 11, 68185870: 68185870
11 KMT5B NM_017635.4(KMT5B): c.559C> T (p.Arg187Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 67941365: 67941365
12 KMT5B NM_017635.4(KMT5B): c.559C> T (p.Arg187Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 68173898: 68173898
13 KMT5B NM_017635.5(KMT5B): c.1619G> A (p.Arg540Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 68158727: 68158727
14 KMT5B NM_017635.5(KMT5B): c.1619G> A (p.Arg540Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 67926194: 67926194
15 KMT5B NM_017635.5(KMT5B): c.1538C> T (p.Ala513Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 68158808: 68158808
16 KMT5B NM_017635.5(KMT5B): c.1538C> T (p.Ala513Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 67926275: 67926275

Expression for Mental Retardation, Autosomal Dominant 51

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 51.

Pathways for Mental Retardation, Autosomal Dominant 51

GO Terms for Mental Retardation, Autosomal Dominant 51

Sources for Mental Retardation, Autosomal Dominant 51

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