MRT47
MCID: MNT225
MIFTS: 21

Mental Retardation, Autosomal Recessive 47 (MRT47)

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 47

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 47:

Name: Mental Retardation, Autosomal Recessive 47 57 72 29 6 70
Mrt47 57 72
Mental Retardation, Autosomal Recessive, Type 47 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two unrelated consanguineous families have been reported (last curated january 2015)


HPO:

31
mental retardation, autosomal recessive 47:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 616193
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
UMLS 70 C4015444

Summaries for Mental Retardation, Autosomal Recessive 47

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 47: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT47 patients show delayed development, with cognition and speech more affected than motor skills.

MalaCards based summary : Mental Retardation, Autosomal Recessive 47, is also known as mrt47. An important gene associated with Mental Retardation, Autosomal Recessive 47 is FMN2 (Formin 2). Related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 616193 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 47

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 47

Human phenotypes related to Mental Retardation, Autosomal Recessive 47:

31 (show all 7)
# 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 mitral valve prolapse 31 very rare (1%) HP:0001634
5 focal impaired awareness seizure 31 very rare (1%) HP:0002384
6 generalized hypotonia 31 very rare (1%) HP:0001290
7 poor speech 31 very rare (1%) HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
poor speech
delayed psychomotor development
complex partial seizures (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Clinical features from OMIM®:

616193 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 47

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 47

Genetic Tests for Mental Retardation, Autosomal Recessive 47

Genetic tests related to Mental Retardation, Autosomal Recessive 47:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 47 29 FMN2

Anatomical Context for Mental Retardation, Autosomal Recessive 47

Publications for Mental Retardation, Autosomal Recessive 47

Articles related to Mental Retardation, Autosomal Recessive 47:

# Title Authors PMID Year
1
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. 6 57
25480035 2014
2
A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome. 61
32162566 2020

Variations for Mental Retardation, Autosomal Recessive 47

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 47:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FMN2 NM_020066.5(FMN2):c.1550del (p.Pro517fs) Deletion Pathogenic 1028638 GRCh37: 1:240256956-240256956
GRCh38: 1:240093656-240093656
2 FMN2 NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter) SNV Pathogenic 1028639 GRCh37: 1:240286481-240286481
GRCh38: 1:240123181-240123181
3 FMN2 NM_020066.5(FMN2):c.2515del (p.Thr839fs) Deletion Pathogenic 162608 rs727502861 GRCh37: 1:240370625-240370625
GRCh38: 1:240207325-240207325
4 FMN2 NM_020066.5(FMN2):c.1394dup (p.Ala466fs) Duplication Pathogenic 162607 rs727502860 GRCh37: 1:240256799-240256800
GRCh38: 1:240093499-240093500
5 FMN2 NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) SNV Likely pathogenic 429780 rs757511770 GRCh37: 1:240255956-240255956
GRCh38: 1:240092656-240092656
6 FMN2 NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr) SNV Uncertain significance 638330 rs1463766241 GRCh37: 1:240256787-240256787
GRCh38: 1:240093487-240093487
7 FMN2 NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr) SNV Uncertain significance 1028640 GRCh37: 1:240555817-240555817
GRCh38: 1:240392517-240392517
8 FMN2 NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile) SNV Uncertain significance 1033513 GRCh37: 1:240256653-240256653
GRCh38: 1:240093353-240093353
9 FMN2 NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp) SNV Uncertain significance 1033514 GRCh37: 1:240370312-240370312
GRCh38: 1:240207012-240207012
10 FMN2 NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe) SNV Uncertain significance 1033515 GRCh37: 1:240370352-240370352
GRCh38: 1:240207052-240207052
11 FMN2 NM_020066.5(FMN2):c.2297G>A (p.Arg766His) SNV Uncertain significance 1033516 GRCh37: 1:240370409-240370409
GRCh38: 1:240207109-240207109
12 FMN2 NM_020066.5(FMN2):c.2753C>T (p.Ala918Val) SNV Uncertain significance 1033517 GRCh37: 1:240370865-240370865
GRCh38: 1:240207565-240207565
13 FMN2 NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu) SNV Uncertain significance 1033518 GRCh37: 1:240371243-240371243
GRCh38: 1:240207943-240207943
14 FMN2 NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile) SNV Uncertain significance 376966 rs146873580 GRCh37: 1:240421302-240421302
GRCh38: 1:240258002-240258002
15 FMN2 NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) SNV Uncertain significance 435231 rs150801382 GRCh37: 1:240497221-240497221
GRCh38: 1:240333921-240333921
16 FMN2 NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) SNV Uncertain significance 1033928 GRCh37: 1:240255984-240255984
GRCh38: 1:240092684-240092684
17 FMN2 NM_020066.5(FMN2):c.629A>G (p.Gln210Arg) SNV Uncertain significance 1033929 GRCh37: 1:240256038-240256038
GRCh38: 1:240092738-240092738
18 FMN2 NM_020066.5(FMN2):c.162del (p.Gly55fs) Deletion Benign 691474 rs1572736047 GRCh37: 1:240255571-240255571
GRCh38: 1:240092271-240092271

Expression for Mental Retardation, Autosomal Recessive 47

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 47.

Pathways for Mental Retardation, Autosomal Recessive 47

GO Terms for Mental Retardation, Autosomal Recessive 47

Sources for Mental Retardation, Autosomal Recessive 47

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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