MRT37
MCID: MNT321
MIFTS: 25

Mental Retardation, Autosomal Recessive 37 (MRT37)

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 37

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 37:

Name: Mental Retardation, Autosomal Recessive 37 57 72 29 6 70
Mrt37 57 72
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome 58
Mental Retardation, Autosomal Recessive, Type 37 39
Mental Retardation, Autosomal Recessive, 37 57

Characteristics:

Orphanet epidemiological data:

58
ank3-related intellectual disability-sleep disturbance syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
two unrelated consanguineous families have been reported (last curated june 2020)


HPO:

31
mental retardation, autosomal recessive 37:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Mental Retardation, Autosomal Recessive 37

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 37: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth.

MalaCards based summary : Mental Retardation, Autosomal Recessive 37, is also known as mrt37, and has symptoms including sleep disturbances and muscle spasticity. An important gene associated with Mental Retardation, Autosomal Recessive 37 is ANK3 (Ankyrin 3). Affiliated tissues include brain, and related phenotypes are spasticity and delayed speech and language development

More information from OMIM: 615493 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 37

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 37

Human phenotypes related to Mental Retardation, Autosomal Recessive 37:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
2 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
3 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
4 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
5 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
6 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
7 bruxism 58 31 frequent (33%) Frequent (79-30%) HP:0003763
8 hypotonia 31 frequent (33%) HP:0001252
9 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
10 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
11 large for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001520
12 seizure 31 occasional (7.5%) HP:0001250
13 seizures 58 Occasional (29-5%)
14 sleep disturbance 58 Frequent (79-30%)
15 muscular hypotonia 58 Frequent (79-30%)
16 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
intellectual disability, moderate
sleep disturbances
hypotonia
seizures (in some patients)

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
teeth grinding

Clinical features from OMIM®:

615493 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, Autosomal Recessive 37:


sleep disturbances; muscle spasticity

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 37

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 37

Genetic Tests for Mental Retardation, Autosomal Recessive 37

Genetic tests related to Mental Retardation, Autosomal Recessive 37:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 37 29 ANK3

Anatomical Context for Mental Retardation, Autosomal Recessive 37

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 37:

40
Brain

Publications for Mental Retardation, Autosomal Recessive 37

Articles related to Mental Retardation, Autosomal Recessive 37:

# Title Authors PMID Year
1
Genetics of intellectual disability in consanguineous families. 57 6
29302074 2019
2
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. 6 57
23390136 2013

Variations for Mental Retardation, Autosomal Recessive 37

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 37:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANK3 NM_020987.5(ANK3):c.10995del (p.Thr3666fs) Deletion Pathogenic 88648 rs879255535 GRCh37: 10:61829644-61829644
GRCh38: 10:60069886-60069886
2 ANK3 NM_020987.5(ANK3):c.11033del (p.Pro3678fs) Deletion Pathogenic 918004 GRCh37: 10:61829606-61829606
GRCh38: 10:60069848-60069848
3 ANK3 NM_020987.5(ANK3):c.2659C>T (p.Gln887Ter) SNV Pathogenic 802576 rs1590691724 GRCh37: 10:61898801-61898801
GRCh38: 10:60139043-60139043
4 ANK3 NM_020987.5(ANK3):c.3727C>T (p.Arg1243Cys) SNV Uncertain significance 802575 rs1589784865 GRCh37: 10:61846456-61846456
GRCh38: 10:60086698-60086698
5 ANK3 NM_020987.5(ANK3):c.2722G>A (p.Gly908Arg) SNV Uncertain significance 547929 rs944771081 GRCh37: 10:61898738-61898738
GRCh38: 10:60138980-60138980
6 ANK3 NM_020987.5(ANK3):c.4723C>T (p.Arg1575Trp) SNV Uncertain significance 587453 rs565896400 GRCh37: 10:61835916-61835916
GRCh38: 10:60076158-60076158
7 ANK3 NM_020987.5(ANK3):c.6916A>G (p.Lys2306Glu) SNV Uncertain significance 434188 rs144270555 GRCh37: 10:61833723-61833723
GRCh38: 10:60073965-60073965
8 ANK3 NM_020987.5(ANK3):c.11825A>G (p.Lys3942Arg) SNV Uncertain significance 210142 rs148549519 GRCh37: 10:61828814-61828814
GRCh38: 10:60069056-60069056
9 ANK3 NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly) SNV Uncertain significance 434154 rs147527383 GRCh37: 10:61829951-61829951
GRCh38: 10:60070193-60070193
10 ANK3 NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser) SNV Uncertain significance 434156 rs140183285 GRCh37: 10:61830642-61830642
GRCh38: 10:60070884-60070884
11 ANK3 NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu) SNV Uncertain significance 210176 rs139022925 GRCh37: 10:61832105-61832105
GRCh38: 10:60072347-60072347
12 ANK3 NM_020987.5(ANK3):c.6067G>A (p.Ala2023Thr) SNV Uncertain significance 434167 rs146929899 GRCh37: 10:61834572-61834572
GRCh38: 10:60074814-60074814
13 ANK3 NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) SNV Uncertain significance 434168 rs117475706 GRCh37: 10:61835057-61835057
GRCh38: 10:60075299-60075299
14 ANK3 NM_020987.5(ANK3):c.2902G>C (p.Asp968His) SNV Uncertain significance 162094 rs730882195 GRCh37: 10:61874029-61874029
GRCh38: 10:60114271-60114271
15 ANK3 NM_020987.5(ANK3):c.8208A>C (p.Glu2736Asp) SNV Uncertain significance 930429 GRCh37: 10:61832431-61832431
GRCh38: 10:60072673-60072673
16 ANK3 NM_020987.5(ANK3):c.13130C>T (p.Ser4377Leu) SNV Uncertain significance 930643 GRCh37: 10:61802453-61802453
GRCh38: 10:60042695-60042695
17 ANK3 NM_020987.5(ANK3):c.1492-12C>A SNV Uncertain significance 930644 GRCh37: 10:61958307-61958307
GRCh38: 10:60198549-60198549
18 ANK3 NM_020987.5(ANK3):c.6715C>T (p.Arg2239Cys) SNV Uncertain significance 930814 GRCh37: 10:61833924-61833924
GRCh38: 10:60074166-60074166
19 ANK3 NM_020987.5(ANK3):c.1361A>G (p.His454Arg) SNV Uncertain significance 930815 GRCh37: 10:61962791-61962791
GRCh38: 10:60203033-60203033
20 ANK3 NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu) SNV Uncertain significance 210171 rs140741466 GRCh37: 10:61833170-61833170
GRCh38: 10:60073412-60073412
21 ANK3 NM_020987.5(ANK3):c.6695G>A (p.Arg2232Gln) SNV Uncertain significance 377484 rs770107349 GRCh37: 10:61833944-61833944
GRCh38: 10:60074186-60074186
22 ANK3 NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser) SNV Uncertain significance 210161 rs41274676 GRCh37: 10:61836174-61836174
GRCh38: 10:60076416-60076416
23 ANK3 NM_020987.5(ANK3):c.4400A>G (p.Lys1467Arg) SNV Uncertain significance 210160 rs139982397 GRCh37: 10:61840327-61840327
GRCh38: 10:60080569-60080569
24 ANK3 NM_020987.5(ANK3):c.2555G>A (p.Arg852His) SNV Uncertain significance 252732 rs190358169 GRCh37: 10:61926408-61926408
GRCh38: 10:60166650-60166650
25 ANK3 NM_020987.5(ANK3):c.148C>T (p.Arg50Ter) SNV Uncertain significance 423280 rs1064796340 GRCh37: 10:62039364-62039364
GRCh38: 10:60279606-60279606
26 ANK3 NM_020987.5(ANK3):c.2467A>G (p.Met823Val) SNV Uncertain significance 1030746 GRCh37: 10:61932077-61932077
GRCh38: 10:60172319-60172319
27 ANK3 NM_020987.5(ANK3):c.3218A>G (p.Lys1073Arg) SNV Uncertain significance 1030747 GRCh37: 10:61865773-61865773
GRCh38: 10:60106015-60106015
28 ANK3 NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) SNV Uncertain significance 88649 rs375050420 GRCh37: 10:61835934-61835934
GRCh38: 10:60076176-60076176
29 ANK3 NM_020987.5(ANK3):c.6122T>C (p.Ile2041Thr) SNV Uncertain significance 1030748 GRCh37: 10:61834517-61834517
GRCh38: 10:60074759-60074759
30 ANK3 NM_020987.5(ANK3):c.9965C>T (p.Ser3322Phe) SNV Uncertain significance 1030749 GRCh37: 10:61830674-61830674
GRCh38: 10:60070916-60070916
31 ANK3 NM_020987.5(ANK3):c.11155C>T (p.Arg3719Cys) SNV Uncertain significance 1033563 GRCh37: 10:61829484-61829484
GRCh38: 10:60069726-60069726
32 ANK3 NM_020987.5(ANK3):c.12596-480C>G SNV Uncertain significance 1033564 GRCh37: 10:61819668-61819668
GRCh38: 10:60059910-60059910
33 ANK3 NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val) SNV Uncertain significance 377485 rs201625904 GRCh37: 10:61830704-61830704
GRCh38: 10:60070946-60070946
34 ANK3 NM_020987.5(ANK3):c.1690-15_1690-14dup Duplication Likely benign 210146 rs34796699 GRCh37: 10:61956386-61956387
GRCh38: 10:60196628-60196629
35 ANK3 NM_020987.5(ANK3):c.1690-15dup Duplication Benign 802577 rs34796699 GRCh37: 10:61956386-61956387
GRCh38: 10:60196628-60196629

Expression for Mental Retardation, Autosomal Recessive 37

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 37.

Pathways for Mental Retardation, Autosomal Recessive 37

GO Terms for Mental Retardation, Autosomal Recessive 37

Sources for Mental Retardation, Autosomal Recessive 37

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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