MRT45
MCID: MNT220
MIFTS: 20

Mental Retardation, Autosomal Recessive 45 (MRT45)

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 45

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 45:

Name: Mental Retardation, Autosomal Recessive 45 57 72 29 6 70
Mrt45 57 72
Mental Retardation, Autosomal Recessive, Type 45 39

Characteristics:

OMIM®:

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

Miscellaneous:
one consanguineous pakistani family has been reported (last curated september 2014)


HPO:

31
mental retardation, autosomal recessive 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615979
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
UMLS 70 C4014864

Summaries for Mental Retardation, Autosomal Recessive 45

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 45: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips.

MalaCards based summary : Mental Retardation, Autosomal Recessive 45, is also known as mrt45. An important gene associated with Mental Retardation, Autosomal Recessive 45 is FBXO31 (F-Box Protein 31). Affiliated tissues include eye, and related phenotypes are intellectual disability and coarse facial features

More information from OMIM: 615979 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 45

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 45

Human phenotypes related to Mental Retardation, Autosomal Recessive 45:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 coarse facial features 31 HP:0000280
3 prominent supraorbital ridges 31 HP:0000336
4 wide nasal bridge 31 HP:0000431
5 thick eyebrow 31 HP:0000574
6 deeply set eye 31 HP:0000490

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
prominent supraorbital ridges
coarse facies
short forehead

Head And Neck Eyes:
thick eyebrows
deep-set eyes

Head And Neck Mouth:
thick prominent lips

Head And Neck Nose:
broad nasal bridge
fleshy nares

Neurologic Central Nervous System:
intellectual disability, mild to moderate

Clinical features from OMIM®:

615979 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 45

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 45

Genetic Tests for Mental Retardation, Autosomal Recessive 45

Genetic tests related to Mental Retardation, Autosomal Recessive 45:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 45 29 FBXO31

Anatomical Context for Mental Retardation, Autosomal Recessive 45

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 45:

40
Eye

Publications for Mental Retardation, Autosomal Recessive 45

Articles related to Mental Retardation, Autosomal Recessive 45:

# Title Authors PMID Year
1
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. 6 57
24623383 2014

Variations for Mental Retardation, Autosomal Recessive 45

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 45:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBXO31 NM_024735.5(FBXO31):c.847_852delinsA (p.Cys283fs) Indel Pathogenic 155905 rs587777703 GRCh37: 16:87369054-87369059
GRCh38: 16:87335448-87335453
2 FBXO31 NM_024735.5(FBXO31):c.1254del (p.Thr419fs) Deletion Pathogenic 1034067 GRCh37: 16:87367635-87367635
GRCh38: 16:87334029-87334029
3 FBXO31 NM_024735.5(FBXO31):c.638C>A (p.Pro213His) SNV Uncertain significance 1034068 GRCh37: 16:87377223-87377223
GRCh38: 16:87343617-87343617
4 FBXO31 NM_024735.5(FBXO31):c.44G>A (p.Gly15Glu) SNV Uncertain significance 1034069 GRCh37: 16:87417307-87417307
GRCh38: 16:87383701-87383701
5 FBXO31 NM_024735.5(FBXO31):c.1348G>A (p.Val450Met) SNV Uncertain significance 1029919 GRCh37: 16:87367541-87367541
GRCh38: 16:87333935-87333935
6 FBXO31 NM_024735.5(FBXO31):c.996+4A>G SNV Uncertain significance 1029920 GRCh37: 16:87368906-87368906
GRCh38: 16:87335300-87335300

Expression for Mental Retardation, Autosomal Recessive 45

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 45.

Pathways for Mental Retardation, Autosomal Recessive 45

GO Terms for Mental Retardation, Autosomal Recessive 45

Sources for Mental Retardation, Autosomal Recessive 45

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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