MRT48
MCID: MNT234
MIFTS: 25

Mental Retardation, Autosomal Recessive 48 (MRT48)

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 48

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 48:

Name: Mental Retardation, Autosomal Recessive 48 57 72 29 6
Mrt48 57 72
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome 58
Mental Retardation, Autosomal Recessive, Type 48 39

Characteristics:

Orphanet epidemiological data:

58
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated march 2015)


HPO:

31
mental retardation, autosomal recessive 48:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Mental Retardation, Autosomal Recessive 48

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 48: 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. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems.

MalaCards based summary : Mental Retardation, Autosomal Recessive 48, is also known as mrt48. An important gene associated with Mental Retardation, Autosomal Recessive 48 is SLC6A17 (Solute Carrier Family 6 Member 17). Affiliated tissues include breast, and related phenotypes are global developmental delay and macrotia

More information from OMIM: 616269 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 48

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 48

Human phenotypes related to Mental Retardation, Autosomal Recessive 48:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
3 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
4 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
5 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
6 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
7 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
8 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
9 self-mutilation 58 31 frequent (33%) Frequent (79-30%) HP:0000742
10 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
11 narrow palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0045025
12 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
13 mood changes 58 31 frequent (33%) Frequent (79-30%) HP:0001575
14 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
15 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
16 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
17 breast carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003002
18 endometrial carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012114
19 ureteral duplication 58 31 occasional (7.5%) Occasional (29-5%) HP:0000073
20 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
21 duplication of renal pelvis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005580
22 inappropriate laughter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000748
23 absent speech 31 HP:0001344
24 blepharophimosis 31 HP:0000581
25 small hand 31 HP:0200055
26 kinetic tremor 31 HP:0030186

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
long philtrum
prominent chin

Head And Neck Ears:
large ears

Head And Neck Eyes:
narrow palpebral fissures

Neurologic Behavioral Psychiatric Manifestations:
self-mutilation
aggression
mood instability
poor impulse control

Neurologic Central Nervous System:
mental retardation, severe
delayed psychomotor development
poor or absent speech
waddling gait (family a)
inability to walk (family b)
more
Skeletal Hands:
small hands (family a)

Clinical features from OMIM®:

616269 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 48

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 48

Genetic Tests for Mental Retardation, Autosomal Recessive 48

Genetic tests related to Mental Retardation, Autosomal Recessive 48:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 48 29 SLC6A17

Anatomical Context for Mental Retardation, Autosomal Recessive 48

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 48:

40
Breast

Publications for Mental Retardation, Autosomal Recessive 48

Articles related to Mental Retardation, Autosomal Recessive 48:

# Title Authors PMID Year
1
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. 57 6
25704603 2015

Variations for Mental Retardation, Autosomal Recessive 48

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 48:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC6A17 NM_001010898.4(SLC6A17):c.484G>A (p.Gly162Arg) SNV Pathogenic 187769 rs775085213 GRCh37: 1:110716634-110716634
GRCh38: 1:110174012-110174012
2 SLC6A17 NM_001010898.4(SLC6A17):c.1898C>G (p.Pro633Arg) SNV Pathogenic 187770 rs375380880 GRCh37: 1:110740780-110740780
GRCh38: 1:110198158-110198158
3 SLC6A17 NM_001010898.4(SLC6A17):c.754-4G>A SNV Uncertain significance 1031719 GRCh37: 1:110719247-110719247
GRCh38: 1:110176625-110176625
4 SLC6A17 NM_001010898.4(SLC6A17):c.852G>A (p.Met284Ile) SNV Uncertain significance 1031720 GRCh37: 1:110719349-110719349
GRCh38: 1:110176727-110176727
5 ELP2 NM_018255.4(ELP2):c.1321C>G (p.Leu441Val) SNV Uncertain significance 1033374 GRCh37: 18:33736474-33736474
GRCh38: 18:36156511-36156511
6 SLC6A17 NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met) SNV Uncertain significance 436766 rs143189177 GRCh37: 1:110740129-110740129
GRCh38: 1:110197507-110197507
7 SLC6A17 NM_001010898.4(SLC6A17):c.1957G>A (p.Val653Met) SNV Uncertain significance 1034370 GRCh37: 1:110740839-110740839
GRCh38: 1:110198217-110198217
8 SLC6A17-AS1 , SLC6A17 NM_001010898.4(SLC6A17):c.286+10A>G SNV Uncertain significance 723416 rs187996451 GRCh37: 1:110709847-110709847
GRCh38: 1:110167225-110167225
9 SLC6A17-AS1 , SLC6A17 NM_001010898.4(SLC6A17):c.29G>A (p.Arg10His) SNV Uncertain significance 1034371 GRCh37: 1:110709580-110709580
GRCh38: 1:110166958-110166958

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 48:

72
# Symbol AA change Variation ID SNP ID
1 SLC6A17 p.Gly162Arg VAR_073371 rs775085213
2 SLC6A17 p.Pro633Arg VAR_073372 rs375380880

Expression for Mental Retardation, Autosomal Recessive 48

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 48.

Pathways for Mental Retardation, Autosomal Recessive 48

GO Terms for Mental Retardation, Autosomal Recessive 48

Sources for Mental Retardation, Autosomal Recessive 48

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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