MRT60
MCID: MNT275
MIFTS: 21

Mental Retardation, Autosomal Recessive 60 (MRT60)

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 60

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 60:

Name: Mental Retardation, Autosomal Recessive 60 58 76 6
Mrt60 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
two unrelated consanguineous families have been reported


HPO:

33
mental retardation, autosomal recessive 60:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 60

UniProtKB/Swiss-Prot : 76 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 bone, skin and eye, and related phenotypes are delayed myelination and global developmental delay

Description from OMIM: 617432

Related Diseases for Mental Retardation, Autosomal Recessive 60

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 60

Human phenotypes related to Mental Retardation, Autosomal Recessive 60:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 delayed myelination 33 occasional (7.5%) HP:0012448
2 global developmental delay 33 HP:0001263
3 delayed skeletal maturation 33 HP:0002750
4 microcephaly 33 HP:0000252
5 short stature 33 HP:0004322
6 delayed puberty 33 HP:0000823
7 intellectual disability, mild 33 HP:0001256
8 small for gestational age 33 HP:0001518

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Mental Retardation, Autosomal Recessive 60

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

42
Bone, Skin, Eye

Publications for Mental Retardation, Autosomal Recessive 60

Articles related to Mental Retardation, Autosomal Recessive 60:

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

Variations for Mental Retardation, Autosomal Recessive 60

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

76
# Symbol AA change Variation ID SNP ID
1 TAF13 p.Leu31His VAR_079046 rs106050503
2 TAF13 p.Met40Lys VAR_079047 rs106050502

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAF13 NM_005645.3(TAF13): c.119T> A (p.Met40Lys) single nucleotide variant Pathogenic rs1060505029 GRCh37 Chromosome 1, 109608842: 109608842
2 TAF13 NM_005645.3(TAF13): c.119T> A (p.Met40Lys) single nucleotide variant Pathogenic rs1060505029 GRCh38 Chromosome 1, 109066220: 109066220
3 TAF13 NM_005645.3(TAF13): c.92T> A (p.Leu31His) single nucleotide variant Pathogenic rs1060505030 GRCh37 Chromosome 1, 109617623: 109617623
4 TAF13 NM_005645.3(TAF13): c.92T> A (p.Leu31His) single nucleotide variant Pathogenic rs1060505030 GRCh38 Chromosome 1, 109075001: 109075001

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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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