MRD51
MCID: MNT327
MIFTS: 22

Mental Retardation, Autosomal Dominant 51 (MRD51)

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 51

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 51:

Name: Mental Retardation, Autosomal Dominant 51 57 72 6
Mrd51 57 72
Mental Retardation, Autosomal Dominant, Type 51 39
Autosomal Dominant Mental Retardation 51 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
mental retardation, autosomal dominant 51:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080232
OMIM® 57 617788
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 51

UniProtKB/Swiss-Prot : 72 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 eye, and related phenotypes are febrile seizure (within the age range of 3 months to 6 years) and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in heterozygous mutation in the KMT5B gene on chromosome 11q13.

More information from OMIM: 617788 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 51

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 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 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 Recessive 48
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 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 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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 delayed speech and language development 31 HP:0000750
5 cryptorchidism 31 HP:0000028
6 autistic behavior 31 HP:0000729
7 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Anatomical Context for Mental Retardation, Autosomal Dominant 51

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

40
Eye

Publications for Mental Retardation, Autosomal Dominant 51

Articles related to Mental Retardation, Autosomal Dominant 51:

# Title Authors PMID Year
1
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. 6 57
29276005 2018
2
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 57 6
28191889 2017
3
The contribution of de novo coding mutations to autism spectrum disorder. 57 6
25363768 2014

Variations for Mental Retardation, Autosomal Dominant 51

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KMT5B NM_017635.5(KMT5B):c.725del (p.Leu242fs) Deletion Pathogenic 446521 rs1555028154 GRCh37: 11:67939105-67939105
GRCh38: 11:68171638-68171638
2 KMT5B NM_017635.5(KMT5B):c.255del (p.Ser86fs) Deletion Pathogenic 559640 rs1555034768 GRCh37: 11:67953301-67953301
GRCh38: 11:68185834-68185834
3 KMT5B NM_017635.5(KMT5B):c.219del (p.Ala74fs) Deletion Pathogenic 560605 rs1565240833 GRCh37: 11:67953337-67953337
GRCh38: 11:68185870-68185870
4 KMT5B NM_017635.5(KMT5B):c.1557_1558del (p.Asn520fs) Deletion Pathogenic 446522 rs1555023232 GRCh37: 11:67926255-67926256
GRCh38: 11:68158788-68158789
5 KMT5B NM_017635.5(KMT5B):c.856C>T (p.Arg286Ter) SNV Pathogenic 666575 rs1590954686 GRCh37: 11:67938603-67938603
GRCh38: 11:68171136-68171136
6 KMT5B NM_017635.5(KMT5B):c.668_672del (p.Lys223fs) Deletion Pathogenic 802695 rs1590956245 GRCh37: 11:67939158-67939162
GRCh38: 11:68171691-68171695
7 KMT5B NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) SNV Likely pathogenic 560606 rs114727354 GRCh37: 11:67941365-67941365
GRCh38: 11:68173898-68173898
8 KMT5B NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer) Deletion Likely pathogenic 984918 GRCh37: 11:67942596-67942597
GRCh38: 11:68175129-68175130
9 KMT5B NM_017635.5(KMT5B):c.1616G>A (p.Arg539Gln) SNV Uncertain significance 1033434 GRCh37: 11:67926197-67926197
GRCh38: 11:68158730-68158730
10 KMT5B NM_017635.5(KMT5B):c.2511GGA[1] (p.Glu838del) Microsatellite Uncertain significance 1033435 GRCh37: 11:67925297-67925299
GRCh38: 11:68157830-68157832
11 KMT5B NM_017635.5(KMT5B):c.1538C>T (p.Ala513Val) SNV Uncertain significance 626228 rs377163167 GRCh37: 11:67926275-67926275
GRCh38: 11:68158808-68158808
12 KMT5B NM_017635.5(KMT5B):c.1619G>A (p.Arg540Gln) SNV Uncertain significance 626229 rs565603169 GRCh37: 11:67926194-67926194
GRCh38: 11:68158727-68158727
13 KMT5B NM_017635.5(KMT5B):c.329C>G (p.Ser110Ter) SNV Uncertain significance 976356 GRCh37: 11:67947647-67947647
GRCh38: 11:68180180-68180180
14 KMT5B NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) SNV Uncertain significance 446523 rs1555028104 GRCh37: 11:67939039-67939039
GRCh38: 11:68171572-68171572

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....