MRT65
MCID: MNT338
MIFTS: 23

Mental Retardation, Autosomal Recessive 65 (MRT65)

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 65

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 65:

Name: Mental Retardation, Autosomal Recessive 65 58 76 6
Mrt65 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three unrelated patients have been reported (last curated september 2018)


HPO:

33
mental retardation, autosomal recessive 65:
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 65

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal recessive 65: 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. MRT65 patients have moderate to severe intellectual disability, developmental delay, and facial dysmorphism. Camptodactyly is present in some patients.

MalaCards based summary : Mental Retardation, Autosomal Recessive 65, is also known as mrt65. An important gene associated with Mental Retardation, Autosomal Recessive 65 is KDM5B (Lysine Demethylase 5B). Affiliated tissues include skin, bone and eye, and related phenotypes are ptosis and global developmental delay

Description from OMIM: 618109

Related Diseases for Mental Retardation, Autosomal Recessive 65

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 65

Human phenotypes related to Mental Retardation, Autosomal Recessive 65:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 global developmental delay 33 HP:0001263
3 delayed speech and language development 33 HP:0000750
4 strabismus 33 HP:0000486
5 cryptorchidism 33 HP:0000028
6 myopia 33 HP:0000545
7 prominent nasal bridge 33 HP:0000426
8 intellectual disability, moderate 33 HP:0002342
9 hypospadias 33 HP:0000047
10 downslanted palpebral fissures 33 HP:0000494
11 bulbous nose 33 HP:0000414
12 prominent metopic ridge 33 HP:0005487
13 astigmatism 33 HP:0000483
14 hypoplasia of the corpus callosum 33 HP:0002079
15 unsteady gait 33 HP:0002317
16 delayed ability to walk 33 HP:0031936
17 square face 33 HP:0000321

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
strabismus
myopia
astigmatism
downslanting palpebral fissures

Head And Neck Head:
dolichocephaly

Cardiovascular Heart:
atrial septal defect

Head And Neck Face:
prominent metopic ridge
square face
dysmorphic facial features (in some patients)

Head And Neck Nose:
high nasal bridge
bulbous nasal tip

Growth Other:
poor overall growth

Skeletal Hands:
camptodactyly of the fourth and fifth fingers

Muscle Soft Tissue:
inguinal hernia

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Neurologic Central Nervous System:
intellectual disability, moderate
unsteady gait
delayed psychomotor development
learning disabilities
thin corpus callosum
more
Head And Neck Ears:
dysplastic ears

Head And Neck Mouth:
thin lips

Abdomen Gastrointestinal:
feeding difficulties, neonatal

Clinical features from OMIM:

618109

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 65

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 65

Genetic Tests for Mental Retardation, Autosomal Recessive 65

Anatomical Context for Mental Retardation, Autosomal Recessive 65

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 65:

42
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Recessive 65

Articles related to Mental Retardation, Autosomal Recessive 65:

# Title Authors Year
1
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. ( 29276005 )
2018

Variations for Mental Retardation, Autosomal Recessive 65

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 65:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 KDM5B NM_006618.4(KDM5B): c.4109T> G (p.Leu1370Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 202700104: 202700104
2 KDM5B NM_006618.4(KDM5B): c.4109T> G (p.Leu1370Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 202730976: 202730976
3 KDM5B c.2475-2A-G single nucleotide variant Pathogenic
4 KDM5B NM_001314042.1(KDM5B): c.895C> T (p.Pro299Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 202764070: 202764070
5 KDM5B NM_001314042.1(KDM5B): c.895C> T (p.Pro299Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 202733198: 202733198
6 KDM5B NM_001314042.1(KDM5B): c.3906delC (p.Gln1303Serfs) deletion Pathogenic GRCh37 Chromosome 1, 202702640: 202702640
7 KDM5B NM_001314042.1(KDM5B): c.3906delC (p.Gln1303Serfs) deletion Pathogenic GRCh38 Chromosome 1, 202733512: 202733512
8 KDM5B NM_001314042.1(KDM5B): c.622dup (p.Tyr208Leufs) duplication Pathogenic GRCh38 Chromosome 1, 202767015: 202767015
9 KDM5B NM_001314042.1(KDM5B): c.622dup (p.Tyr208Leufs) duplication Pathogenic GRCh37 Chromosome 1, 202736143: 202736143
10 KDM5B NM_006618.4(KDM5B): c.895C> T (p.Arg299Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 202762722: 202762722
11 KDM5B NM_006618.4(KDM5B): c.895C> T (p.Arg299Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 202731850: 202731850

Expression for Mental Retardation, Autosomal Recessive 65

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 65.

Pathways for Mental Retardation, Autosomal Recessive 65

GO Terms for Mental Retardation, Autosomal Recessive 65

Sources for Mental Retardation, Autosomal Recessive 65

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
Content
Loading form....