MRT27
MCID: MNT177
MIFTS: 24

Mental Retardation, Autosomal Recessive 27 (MRT27)

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 27

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 27:

Name: Mental Retardation, Autosomal Recessive 27 57 72 29 13 6 70
Mrt27 57 72
Mental Retardation, Autosomal Recessive, Type 27 39

Characteristics:

OMIM®:

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


HPO:

31
mental retardation, autosomal recessive 27:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614340
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
MedGen 41 C3280538
UMLS 70 C3280538

Summaries for Mental Retardation, Autosomal Recessive 27

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 27: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Recessive 27, is also known as mrt27. An important gene associated with Mental Retardation, Autosomal Recessive 27 is LINS1 (Lines Homolog 1). Affiliated tissues include eye, and related phenotypes are microcephaly and aggressive behavior

More information from OMIM: 614340 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 27

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 27

Human phenotypes related to Mental Retardation, Autosomal Recessive 27:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 aggressive behavior 31 occasional (7.5%) HP:0000718
3 intellectual disability 31 HP:0001249
4 hyperreflexia 31 HP:0001347
5 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 HP:0005280
7 growth delay 31 HP:0001510
8 midface retrusion 31 HP:0011800
9 generalized hypotonia 31 HP:0001290
10 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
hyperreflexia

Neurologic Central Nervous System:
poor speech
delayed psychomotor development
head nodding

Head And Neck Face:
midface hypoplasia

Growth Other:
poor growth

Head And Neck Nose:
depressed nasal bridge

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)

Clinical features from OMIM®:

614340 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 27

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 27

Genetic Tests for Mental Retardation, Autosomal Recessive 27

Genetic tests related to Mental Retardation, Autosomal Recessive 27:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 27 29 LINS1

Anatomical Context for Mental Retardation, Autosomal Recessive 27

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 27:

40
Eye

Publications for Mental Retardation, Autosomal Recessive 27

Articles related to Mental Retardation, Autosomal Recessive 27:

# Title Authors PMID Year
1
LINS, a modulator of the WNT signaling pathway, is involved in human cognition. 6 57
23773660 2013
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011
3
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 57 61
21629298 2011
4
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 57
21063731 2011
5
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. 61
32499722 2020

Variations for Mental Retardation, Autosomal Recessive 27

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 27:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LINS1 NM_001040616.3(LINS1):c.1754_1755del (p.Asp585fs) Deletion Pathogenic 1028988 GRCh37: 15:101109962-101109963
GRCh38: 15:100569757-100569758
2 LINS1 NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer) Deletion Pathogenic 120182 rs587777225 GRCh37: 15:101114090-101114093
GRCh38: 15:100573885-100573888
3 LINS1 NM_001040616.3(LINS1):c.1219_1222+1del Deletion Pathogenic 120183 rs587777226 GRCh37: 15:101113855-101113859
GRCh38: 15:100573650-100573654
4 LINS1 NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) SNV Pathogenic 280510 rs149644940 GRCh37: 15:101113900-101113900
GRCh38: 15:100573695-100573695
5 LINS1 NM_001040616.3(LINS1):c.681_682dup (p.Tyr228fs) Duplication Pathogenic 1031764 GRCh37: 15:101114395-101114396
GRCh38: 15:100574190-100574191
6 LINS1 NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) SNV Likely pathogenic 374936 rs1057519019 GRCh37: 15:101114141-101114141
GRCh38: 15:100573936-100573936
7 LINS1 NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter) SNV Likely pathogenic 915272 GRCh37: 15:101109447-101109447
GRCh38: 15:100569242-100569242
8 LINS1 NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) SNV Likely pathogenic 800811 rs1596891223 GRCh37: 15:101114361-101114361
GRCh38: 15:100574156-100574156
9 LINS1 NM_001040616.3(LINS1):c.597del (p.Glu200fs) Deletion Likely pathogenic 982394 GRCh37: 15:101115226-101115226
GRCh38: 15:100575021-100575021
10 LINS1 NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del) Deletion Uncertain significance 984698 GRCh37: 15:101114236-101114292
GRCh38: 15:100574031-100574087
11 LINS1 NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn) SNV Uncertain significance 1032566 GRCh37: 15:101114081-101114081
GRCh38: 15:100573876-100573876
12 LINS1 NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr) SNV Uncertain significance 1028987 GRCh37: 15:101110236-101110236
GRCh38: 15:100570031-100570031
13 LINS1 NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser) SNV Uncertain significance 1030057 GRCh37: 15:101109685-101109685
GRCh38: 15:100569480-100569480
14 LINS1 NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val) SNV Uncertain significance 1031758 GRCh37: 15:101114065-101114065
GRCh38: 15:100573860-100573860
15 LINS1 NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile) SNV Uncertain significance 1031759 GRCh37: 15:101120914-101120914
GRCh38: 15:100580709-100580709
16 LINS1 NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser) SNV Uncertain significance 1031760 GRCh37: 15:101110230-101110230
GRCh38: 15:100570025-100570025
17 LINS1 NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly) SNV Uncertain significance 1031761 GRCh37: 15:101109891-101109891
GRCh38: 15:100569686-100569686
18 LINS1 NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg) SNV Uncertain significance 588781 rs140140023 GRCh37: 15:101109724-101109724
GRCh38: 15:100569519-100569519
19 LINS1 NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser) SNV Uncertain significance 1031762 GRCh37: 15:101109713-101109713
GRCh38: 15:100569508-100569508
20 LINS1 NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln) Indel Uncertain significance 1031763 GRCh37: 15:101120742-101120743
GRCh38: 15:100580537-100580538
21 LINS1 NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn) SNV Uncertain significance 587881 rs1567718073 GRCh37: 15:101114417-101114417
GRCh38: 15:100574212-100574212

Expression for Mental Retardation, Autosomal Recessive 27

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 27.

Pathways for Mental Retardation, Autosomal Recessive 27

GO Terms for Mental Retardation, Autosomal Recessive 27

Sources for Mental Retardation, Autosomal Recessive 27

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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