MCID: MNT225
MIFTS: 20

Mental Retardation, Autosomal Recessive 47

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 47

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 47:

Name: Mental Retardation, Autosomal Recessive 47 57 75 29 6 73
Mrt47 57 75
Mental Retardation, Autosomal Recessive, Type 47 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mental retardation, autosomal recessive 47:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 616193
MeSH 44 D008607
UMLS 73 C4015444

Summaries for Mental Retardation, Autosomal Recessive 47

UniProtKB/Swiss-Prot : 75 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

Description from OMIM: 616193

Related Diseases for Mental Retardation, Autosomal Recessive 47

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 47

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
hypotonia (in some patients)

Neurologic Central Nervous System:
delayed psychomotor development
poor speech
complex partial seizures (in some patients)


Clinical features from OMIM:

616193

Human phenotypes related to Mental Retardation, Autosomal Recessive 47:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 generalized hypotonia 32 occasional (7.5%) HP:0001290
4 focal seizures with impairment of consciousness or awareness 32 occasional (7.5%) HP:0002384
5 poor speech 32 HP:0002465

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

Variations for Mental Retardation, Autosomal Recessive 47

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FMN2 NM_020066.4(FMN2): c.1394dupC (p.Ala466Glyfs) duplication Pathogenic rs727502860 GRCh37 Chromosome 1, 240256803: 240256803
2 FMN2 NM_020066.4(FMN2): c.1394dupC (p.Ala466Glyfs) duplication Pathogenic rs727502860 GRCh38 Chromosome 1, 240093503: 240093503
3 FMN2 NM_020066.4(FMN2): c.2515delA (p.Thr839Profs) deletion Pathogenic rs727502861 GRCh37 Chromosome 1, 240370627: 240370627
4 FMN2 NM_020066.4(FMN2): c.2515delA (p.Thr839Profs) deletion Pathogenic rs727502861 GRCh38 Chromosome 1, 240207327: 240207327

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 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
38 LifeMap
40 LOVD
42 MedGen
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
Content
Loading form....