MCID: MNT221
MIFTS: 22

Mental Retardation, Autosomal Recessive 44

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 44

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 44:

Name: Mental Retardation, Autosomal Recessive 44 57 75 29 6 73
Mrt44 57 75
Mental Retardation, Autosomal Recessive, Type 44 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

32
mental retardation, autosomal recessive 44:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 44

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal recessive 44: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features.

MalaCards based summary : Mental Retardation, Autosomal Recessive 44, is also known as mrt44. An important gene associated with Mental Retardation, Autosomal Recessive 44 is METTL23 (Methyltransferase Like 23). Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

Description from OMIM: 615942

Related Diseases for Mental Retardation, Autosomal Recessive 44

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 44

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)
cognitive impairment, mild to severe
decreased delineation of the basal ganglia (in some patients)

Head And Neck Nose:
depressed nasal bridge (in some patients)
short, upturned nose (in some patients)

Head And Neck Mouth:
thin lips (in some patients)

Head And Neck Eyes:
bulging eyes (in some patients)

Head And Neck Face:
long philtrum (in some patients)

Skeletal Feet:
pes planus (in some patients)

Head And Neck Head:
flat occiput (in some patients)


Clinical features from OMIM:

615942

Human phenotypes related to Mental Retardation, Autosomal Recessive 44:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 global developmental delay 32 HP:0001263
4 depressed nasal bridge 32 occasional (7.5%) HP:0005280
5 pes planus 32 occasional (7.5%) HP:0001763
6 cognitive impairment 32 HP:0100543
7 long philtrum 32 occasional (7.5%) HP:0000343
8 flat occiput 32 occasional (7.5%) HP:0005469
9 thin vermilion border 32 occasional (7.5%) HP:0000233

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 44

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 44

Genetic Tests for Mental Retardation, Autosomal Recessive 44

Genetic tests related to Mental Retardation, Autosomal Recessive 44:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 44 29 METTL23

Anatomical Context for Mental Retardation, Autosomal Recessive 44

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 44:

41
Eye

Publications for Mental Retardation, Autosomal Recessive 44

Variations for Mental Retardation, Autosomal Recessive 44

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 44:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 METTL23 NM_001080510.4(METTL23): c.169_172delCACT (p.His57Valfs) deletion Pathogenic rs587777644 GRCh37 Chromosome 17, 74729144: 74729147
2 METTL23 NM_001080510.4(METTL23): c.169_172delCACT (p.His57Valfs) deletion Pathogenic rs587777644 GRCh38 Chromosome 17, 76733062: 76733065
3 METTL23 NM_001080510.4(METTL23): c.282_286delAGATA (p.Gln94Hisfs) deletion Pathogenic rs587777645 GRCh37 Chromosome 17, 74729257: 74729261
4 METTL23 NM_001080510.4(METTL23): c.282_286delAGATA (p.Gln94Hisfs) deletion Pathogenic rs587777645 GRCh38 Chromosome 17, 76733175: 76733179
5 METTL23 NM_001080510.4(METTL23): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs587777646 GRCh37 Chromosome 17, 74729449: 74729449
6 METTL23 NM_001080510.4(METTL23): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs587777646 GRCh38 Chromosome 17, 76733367: 76733367

Expression for Mental Retardation, Autosomal Recessive 44

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 44.

Pathways for Mental Retardation, Autosomal Recessive 44

GO Terms for Mental Retardation, Autosomal Recessive 44

Sources for Mental Retardation, Autosomal Recessive 44

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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