MRT65
MCID: MNT338
MIFTS: 23

Mental Retardation, Autosomal Recessive 65 (MRT65)

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 Recessive 65

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 65:

Name: Mental Retardation, Autosomal Recessive 65 57 72 6
Mrt65 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mental retardation, autosomal recessive 65:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 65

UniProtKB/Swiss-Prot : 72 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 eye, and related phenotypes are ptosis and global developmental delay

More information from OMIM: 618109 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 65

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 Recessive 65

Human phenotypes related to Mental Retardation, Autosomal Recessive 65:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 global developmental delay 31 HP:0001263
3 inguinal hernia 31 HP:0000023
4 delayed speech and language development 31 HP:0000750
5 strabismus 31 HP:0000486
6 cryptorchidism 31 HP:0000028
7 myopia 31 HP:0000545
8 atrial septal defect 31 HP:0001631
9 dolichocephaly 31 HP:0000268
10 downslanted palpebral fissures 31 HP:0000494
11 intellectual disability, moderate 31 HP:0002342
12 prominent nasal bridge 31 HP:0000426
13 hypospadias 31 HP:0000047
14 bulbous nose 31 HP:0000414
15 thin vermilion border 31 HP:0000233
16 prominent metopic ridge 31 HP:0005487
17 astigmatism 31 HP:0000483
18 hypoplasia of the corpus callosum 31 HP:0002079
19 feeding difficulties 31 HP:0011968
20 unsteady gait 31 HP:0002317
21 abnormality of the pinna 31 HP:0000377
22 square face 31 HP:0000321
23 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
strabismus
myopia
astigmatism
downslanting palpebral fissures

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Head And Neck Head:
dolichocephaly

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

Cardiovascular Heart:
atrial septal defect

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 (Updated 20-May-2021)

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:

40
Eye

Publications for Mental Retardation, Autosomal Recessive 65

Articles related to Mental Retardation, Autosomal Recessive 65:

# Title Authors PMID Year
1
Quantifying the contribution of recessive coding variation to developmental disorders. 57 6
30409806 2018
2
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. 6 57
29276005 2018
3
Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences. 6
30217758 2018
4
The histone demethylase Jarid1b ensures faithful mouse development by protecting developmental genes from aberrant H3K4me3. 57
23637629 2013

Variations for Mental Retardation, Autosomal Recessive 65

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KDM5B c.2475-2A-G SNV Pathogenic 560601 GRCh37:
GRCh38:
2 KDM5B NM_006618.5(KDM5B):c.787C>T (p.Pro263Ser) SNV Pathogenic 560602 rs375695605 GRCh37: 1:202733198-202733198
GRCh38: 1:202764070-202764070
3 KDM5B NM_006618.5(KDM5B):c.3799del (p.Gln1267fs) Deletion Pathogenic 560603 rs1558479778 GRCh37: 1:202702639-202702639
GRCh38: 1:202733511-202733511
4 KDM5B NM_006618.5(KDM5B):c.622dup (p.Tyr208fs) Duplication Pathogenic 560604 rs1558501648 GRCh37: 1:202736142-202736143
GRCh38: 1:202767014-202767015
5 KDM5B NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter) SNV Pathogenic 224143 rs869312703 GRCh37: 1:202702711-202702711
GRCh38: 1:202733583-202733583
6 KDM5B NM_006618.5(KDM5B):c.4113del (p.Ala1372fs) Deletion Pathogenic 1029060 GRCh37: 1:202700100-202700100
GRCh38: 1:202730972-202730972
7 KDM5B NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) SNV Pathogenic/Likely pathogenic 626239 rs1558498928 GRCh37: 1:202731850-202731850
GRCh38: 1:202762722-202762722
8 KDM5B NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs) Duplication Likely pathogenic 816679 rs1572705473 GRCh37: 1:202702785-202702786
GRCh38: 1:202733657-202733658
9 KDM5B NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) SNV Likely pathogenic 560600 rs1558478047 GRCh37: 1:202700104-202700104
GRCh38: 1:202730976-202730976
10 KDM5B NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu) SNV Uncertain significance 727824 rs141191327 GRCh37: 1:202714989-202714989
GRCh38: 1:202745861-202745861
11 KDM5B NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr) SNV Uncertain significance 1032469 GRCh37: 1:202702846-202702846
GRCh38: 1:202733718-202733718
12 KDM5B NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser) SNV Uncertain significance 976368 GRCh37: 1:202725556-202725556
GRCh38: 1:202756428-202756428
13 KDM5B NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser) SNV Uncertain significance 1029058 GRCh37: 1:202725529-202725529
GRCh38: 1:202756401-202756401
14 KDM5B NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val) SNV Uncertain significance 1029059 GRCh37: 1:202710633-202710633
GRCh38: 1:202741505-202741505
15 KDM5B NM_006618.5(KDM5B):c.2338A>G (p.Lys780Glu) SNV Uncertain significance 816677 rs1244407080 GRCh37: 1:202711919-202711919
GRCh38: 1:202742791-202742791

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
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
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