MCID: MNT220
MIFTS: 19

Mental Retardation, Autosomal Recessive 45

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Skin diseases, Eye diseases, Metabolic diseases, Bone diseases, Cardiovascular diseases, Mental diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 45

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 45:

Name: Mental Retardation, Autosomal Recessive 45 53 71 69
Mrt45 53 71

Characteristics:

OMIM:

53
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:



Summaries for Mental Retardation, Autosomal Recessive 45

UniProtKB/Swiss-Prot : 71 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, and has symptoms including intellectual disability, coarse facial features and prominent supraorbital ridges. An important gene associated with Mental Retardation, Autosomal Recessive 45 is FBXO31 (F-Box Protein 31). Affiliated tissues include eye.

Description from OMIM: 615979

Related Diseases for Mental Retardation, Autosomal Recessive 45

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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 45

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
coarse facies
short forehead
prominent supraorbital ridges

Head And Neck Nose:
broad nasal bridge
fleshy nares

Neurologic Central Nervous System:
intellectual disability, mild to moderate

Head And Neck Eyes:
deep-set eyes
thick eyebrows

Head And Neck Mouth:
thick prominent lips


Clinical features from OMIM:

615979

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

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

Anatomical Context for Mental Retardation, Autosomal Recessive 45

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

38
Eye

Publications for Mental Retardation, Autosomal Recessive 45

Variations for Mental Retardation, Autosomal Recessive 45

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXO31 NM_024735.4(FBXO31): c.847_852delTGCCTGinsA (p.Cys283Asnfs) indel Pathogenic rs587777703 GRCh37 Chromosome 16, 87369054: 87369059

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....