MRT60
MCID: MNT275
MIFTS: 21

Mental Retardation, Autosomal Recessive 60 (MRT60)

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 60

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 60:

Name: Mental Retardation, Autosomal Recessive 60 57 72 29 6
Mrt60 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
two unrelated consanguineous families have been reported


HPO:

31
mental retardation, autosomal recessive 60:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 60

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 60: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly. MRT60 inheritance is autosomal recessive.

MalaCards based summary : Mental Retardation, Autosomal Recessive 60, is also known as mrt60. An important gene associated with Mental Retardation, Autosomal Recessive 60 is TAF13 (TATA-Box Binding Protein Associated Factor 13). Affiliated tissues include eye and bone, and related phenotypes are delayed myelination and global developmental delay

More information from OMIM: 617432 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 60

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 60

Human phenotypes related to Mental Retardation, Autosomal Recessive 60:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 delayed myelination 31 occasional (7.5%) HP:0012448
2 global developmental delay 31 HP:0001263
3 delayed skeletal maturation 31 HP:0002750
4 microcephaly 31 HP:0000252
5 short stature 31 HP:0004322
6 delayed puberty 31 HP:0000823
7 intellectual disability, mild 31 HP:0001256
8 small for gestational age 31 HP:0001518

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Weight:
short stature

Neurologic Central Nervous System:
intellectual disability, mild
delayed psychomotor development
learning difficulties
delayed myelination (1 patient)
febrile seizure (1 family)
more
Growth Height:
low birth weight

Head And Neck Head:
microcephaly, variable (range -2 to -7 sd)

Endocrine Features:
delayed puberty

Skeletal:
delayed bone age

Growth Other:
poor overall growth

Clinical features from OMIM®:

617432 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 60

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 60

Genetic Tests for Mental Retardation, Autosomal Recessive 60

Genetic tests related to Mental Retardation, Autosomal Recessive 60:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 60 29 TAF13

Anatomical Context for Mental Retardation, Autosomal Recessive 60

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 60:

40
Eye, Bone

Publications for Mental Retardation, Autosomal Recessive 60

Articles related to Mental Retardation, Autosomal Recessive 60:

# Title Authors PMID Year
1
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. 6 57
28257693 2017

Variations for Mental Retardation, Autosomal Recessive 60

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 60:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAF13 NM_005645.4(TAF13):c.92T>A (p.Leu31His) SNV Pathogenic 375727 rs1060505030 GRCh37: 1:109617623-109617623
GRCh38: 1:109075001-109075001
2 TAF13 NM_005645.4(TAF13):c.119T>A (p.Met40Lys) SNV Pathogenic 375726 rs1060505029 GRCh37: 1:109608842-109608842
GRCh38: 1:109066220-109066220
3 TAF13 NM_005645.4(TAF13):c.256del (p.Ile86fs) Deletion Pathogenic 998375 GRCh37: 1:109607264-109607264
GRCh38: 1:109064642-109064642
4 TAF13 NM_005645.4(TAF13):c.205-1G>A SNV Pathogenic 1034201 GRCh37: 1:109607316-109607316
GRCh38: 1:109064694-109064694
5 TAF13 NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys) SNV Uncertain significance 1030003 GRCh37: 1:109608839-109608839
GRCh38: 1:109066217-109066217

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 60:

72
# Symbol AA change Variation ID SNP ID
1 TAF13 p.Leu31His VAR_079046 rs106050503
2 TAF13 p.Met40Lys VAR_079047 rs106050502

Expression for Mental Retardation, Autosomal Recessive 60

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 60.

Pathways for Mental Retardation, Autosomal Recessive 60

GO Terms for Mental Retardation, Autosomal Recessive 60

Sources for Mental Retardation, Autosomal Recessive 60

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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