MRT27
MCID: MNT177
MIFTS: 25

Mental Retardation, Autosomal Recessive 27 (MRT27)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 27

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 27:

Name: Mental Retardation, Autosomal Recessive 27 58 76 30 13 6 74
Mrt27 58 76
Mental Retardation, Autosomal Recessive, Type 27 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
mental retardation, autosomal recessive 27:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 27

UniProtKB/Swiss-Prot : 76 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, also known as mrt27, is related to cone-rod dystrophy and hearing loss 2. An important gene associated with Mental Retardation, Autosomal Recessive 27 is LINS1 (Lines Homolog 1). Affiliated tissues include skin, bone and eye, and 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 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
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

Diseases related to Mental Retardation, Autosomal Recessive 27 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.2

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 27

Human phenotypes related to Mental Retardation, Autosomal Recessive 27:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 aggressive behavior 33 occasional (7.5%) HP:0000718
3 intellectual disability 33 HP:0001249
4 hyperreflexia 33 HP:0001347
5 global developmental delay 33 HP:0001263
6 depressed nasal bridge 33 HP:0005280
7 growth delay 33 HP:0001510
8 midface retrusion 33 HP:0011800
9 generalized hypotonia 33 HP:0001290
10 poor speech 33 HP:0002465

Symptoms via clinical synopsis from OMIM:

58
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

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 30 LINS1

Anatomical Context for Mental Retardation, Autosomal Recessive 27

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

42
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Recessive 27

Articles related to Mental Retardation, Autosomal Recessive 27:

# Title Authors Year
1
LINS, a modulator of the WNT signaling pathway, is involved in human cognition. ( 23773660 )
2013
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....