MRT44
MCID: MNT221
MIFTS: 21

Mental Retardation, Autosomal Recessive 44 (MRT44)

Categories: 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 44

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 44:

Name: Mental Retardation, Autosomal Recessive 44 56 73 29 6 71
Mrt44 56 73
Mental Retardation, Autosomal Recessive, Type 44 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

31
mental retardation, autosomal recessive 44:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 44

UniProtKB/Swiss-Prot : 73 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 depressed nasal bridge and pes planus

More information from OMIM: 615942 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 44

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 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 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 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 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 44

Human phenotypes related to Mental Retardation, Autosomal Recessive 44:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 occasional (7.5%) HP:0005280
2 pes planus 31 occasional (7.5%) HP:0001763
3 long philtrum 31 occasional (7.5%) HP:0000343
4 flat occiput 31 occasional (7.5%) HP:0005469
5 thin vermilion border 31 occasional (7.5%) HP:0000233
6 seizure 31 occasional (7.5%) HP:0001250
7 intellectual disability 31 HP:0001249
8 global developmental delay 31 HP:0001263
9 cognitive impairment 31 HP:0100543

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures (in some patients)
delayed psychomotor development
cognitive impairment, mild to severe
decreased delineation of the basal ganglia (in some patients)

Skeletal Feet:
pes planus (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)

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

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

Clinical features from OMIM:

615942

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:

40
Eye

Publications for Mental Retardation, Autosomal Recessive 44

Articles related to Mental Retardation, Autosomal Recessive 44:

# Title Authors PMID Year
1
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 6 56
24626631 2014
2
METTL23, a transcriptional partner of GABPA, is essential for human cognition. 56 6
24501276 2014

Variations for Mental Retardation, Autosomal Recessive 44

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 METTL23 NM_001206985.2(METTL23):c.-33_-30deldeletion Pathogenic 144023 rs587777644 17:74729142-74729145 17:76733060-76733063
2 METTL23 NM_001080510.4(METTL23):c.282_286del (p.Gln94fs)deletion Pathogenic 144024 rs587777645 17:74729256-74729260 17:76733174-76733178
3 METTL23 NM_001080510.4(METTL23):c.397C>T (p.Gln133Ter)SNV Pathogenic 144025 rs587777646 17:74729449-74729449 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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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