MCID: MNT177
MIFTS: 21

Mental Retardation, Autosomal Recessive 27

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 27

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 27:

Name: Mental Retardation, Autosomal Recessive 27 57 75 29 13 6 73
Mrt27 57 75
Mental Retardation, Autosomal Recessive, Type 27 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
mental retardation, autosomal recessive 27:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 27

UniProtKB/Swiss-Prot : 75 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). Related phenotypes are microcephaly and aggressive behavior

Description from OMIM: 614340

Related Diseases for Mental Retardation, Autosomal Recessive 27

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 27

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
poor growth

Head And Neck Face:
midface hypoplasia

Muscle Soft Tissue:
hypotonia

Neurologic Peripheral Nervous System:
hyperreflexia

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Nose:
depressed nasal bridge

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

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


Clinical features from OMIM:

614340

Human phenotypes related to Mental Retardation, Autosomal Recessive 27:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 aggressive behavior 32 occasional (7.5%) HP:0000718
3 intellectual disability 32 HP:0001249
4 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 hyperreflexia 32 HP:0001347
7 growth delay 32 HP:0001510
8 poor speech 32 HP:0002465
9 depressed nasal bridge 32 HP:0005280
10 midface retrusion 32 HP:0011800

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

Publications for Mental Retardation, Autosomal Recessive 27

Variations for Mental Retardation, Autosomal Recessive 27

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LINS1 NM_001040616.2(LINS1): c.985_988delCATG (p.His329Terfs) deletion Pathogenic rs587777225 GRCh38 Chromosome 15, 100573885: 100573888
2 LINS1 NM_001040616.2(LINS1): c.985_988delCATG (p.His329Terfs) deletion Pathogenic rs587777225 GRCh37 Chromosome 15, 101114090: 101114093
3 LINS1 NM_001040616.2(LINS1): c.1219_1222+1delAAAGG deletion Pathogenic rs587777226 GRCh38 Chromosome 15, 100573650: 100573654
4 LINS1 NM_001040616.2(LINS1): c.1219_1222+1delAAAGG deletion Pathogenic rs587777226 GRCh37 Chromosome 15, 101113855: 101113859
5 LINS1 NM_001040616.2(LINS1): c.1178T> G (p.Leu393Ter) single nucleotide variant Pathogenic rs149644940 GRCh37 Chromosome 15, 101113900: 101113900
6 LINS1 NM_001040616.2(LINS1): c.1178T> G (p.Leu393Ter) single nucleotide variant Pathogenic rs149644940 GRCh38 Chromosome 15, 100573695: 100573695
7 LINS1 NM_001040616.2(LINS1): c.937G> A (p.Glu313Lys) single nucleotide variant Likely pathogenic rs1057519019 GRCh38 Chromosome 15, 100573936: 100573936
8 LINS1 NM_001040616.2(LINS1): c.937G> A (p.Glu313Lys) single nucleotide variant Likely pathogenic rs1057519019 GRCh37 Chromosome 15, 101114141: 101114141

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 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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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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