MRT66
MCID: MNT339
MIFTS: 23

Mental Retardation, Autosomal Recessive 66 (MRT66)

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 66

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 66:

Name: Mental Retardation, Autosomal Recessive 66 57 72 29 6
Mrt66 57 72

Characteristics:

OMIM®:

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


HPO:

31
mental retardation, autosomal recessive 66:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 66

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 66: 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. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span.

MalaCards based summary : Mental Retardation, Autosomal Recessive 66, is also known as mrt66. An important gene associated with Mental Retardation, Autosomal Recessive 66 is C12orf4 (Chromosome 12 Open Reading Frame 4). Affiliated tissues include eye, and related phenotypes are intellectual disability and global developmental delay

OMIM® : 57 MRT66 is a nonsyndromic autosomal recessive intellectual developmental disorder with delayed speech development, neuropsychiatric symptoms, and relatively normal life span (Philips et al., 2017). (618221) (Updated 20-May-2021)

Related Diseases for Mental Retardation, Autosomal Recessive 66

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 66

Human phenotypes related to Mental Retardation, Autosomal Recessive 66:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 delayed speech and language development 31 very rare (1%) HP:0000750
4 abnormal facial shape 31 very rare (1%) HP:0001999
5 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
6 epicanthus 31 very rare (1%) HP:0000286
7 joint laxity 31 very rare (1%) HP:0001388
8 gait ataxia 31 very rare (1%) HP:0002066
9 autistic behavior 31 very rare (1%) HP:0000729
10 aggressive behavior 31 very rare (1%) HP:0000718
11 shyness 31 very rare (1%) HP:0100962
12 hypotonia 31 very rare (1%) HP:0001252
13 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hypotonia
delayed speech
autism spectrum disorder (in some patients)
abnormal gait (in some patients)
intellectual developmental deficit, mild to moderate

Skeletal:
joint hyperlaxity, mild

Head And Neck Face:
dysmorphic facies, mild

Clinical features from OMIM®:

618221 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 66

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 66

Genetic Tests for Mental Retardation, Autosomal Recessive 66

Genetic tests related to Mental Retardation, Autosomal Recessive 66:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 66 29 C12orf4

Anatomical Context for Mental Retardation, Autosomal Recessive 66

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 66:

40
Eye

Publications for Mental Retardation, Autosomal Recessive 66

Articles related to Mental Retardation, Autosomal Recessive 66:

# Title Authors PMID Year
1
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 6 57
28097321 2017
2
Identification of C12orf4 as a gene for autosomal recessive intellectual disability. 6 57
27311568 2017
3
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 57 6
25558065 2015
4
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype. 6
31334606 2019

Variations for Mental Retardation, Autosomal Recessive 66

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 66:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C12orf4 NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs) Insertion Pathogenic 183276 rs730882197 GRCh37: 12:4634508-4634509
GRCh38: 12:4525342-4525343
2 C12orf4 NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) SNV Pathogenic/Likely pathogenic 592164 rs749969789 GRCh37: 12:4609384-4609384
GRCh38: 12:4500218-4500218
3 C12orf4 NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs) Insertion Likely pathogenic 931775 GRCh37: 12:4614508-4614509
GRCh38: 12:4505342-4505343
4 C12orf4 NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA Indel Likely pathogenic 977084 GRCh37: 12:4626784-4627976
GRCh38: 12:4517618-4518810
5 C12orf4 NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter) SNV Likely pathogenic 977085 GRCh37: 12:4626311-4626311
GRCh38: 12:4517145-4517145
6 C12orf4 NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) SNV Likely pathogenic 592163 rs1468772495 GRCh37: 12:4627274-4627274
GRCh38: 12:4518108-4518108

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 66:

72
# Symbol AA change Variation ID SNP ID
1 C12orf4 p.Leu328Pro VAR_081778 rs146877249

Expression for Mental Retardation, Autosomal Recessive 66

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 66.

Pathways for Mental Retardation, Autosomal Recessive 66

GO Terms for Mental Retardation, Autosomal Recessive 66

Sources for Mental Retardation, Autosomal Recessive 66

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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