MCID: MNT275
MIFTS: 20

Mental Retardation, Autosomal Recessive 60

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Fetal diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 6
Mrt60 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
two unrelated consanguineous families have been reported


HPO:

32
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 : 75 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, and related phenotypes are microcephaly and delayed puberty

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 Dominant 19 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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 60

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mental Retardation, Autosomal Recessive 60:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 delayed puberty 32 HP:0000823
3 intellectual disability, mild 32 HP:0001256
4 global developmental delay 32 HP:0001263
5 small for gestational age 32 HP:0001518
6 delayed skeletal maturation 32 HP:0002750
7 short stature 32 HP:0004322
8 delayed myelination 32 occasional (7.5%) HP:0012448

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:

41
Bone

Publications for Mental Retardation, Autosomal Recessive 60

Variations for Mental Retardation, Autosomal Recessive 60

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

75
# Symbol AA change Variation ID SNP ID
1 TAF13 p.Leu31His VAR_079046
2 TAF13 p.Met40Lys VAR_079047

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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