MCID: MNT220
MIFTS: 18

Mental Retardation, Autosomal Recessive 45

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

Aliases & Classifications for Mental Retardation, Autosomal Recessive 45

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 45:

Name: Mental Retardation, Autosomal Recessive 45 54 71 69
Mrt45 71

Characteristics:

OMIM:

54
Miscellaneous:
one consanguineous pakistani family has been reported (last curated september 2014)

Inheritance:
autosomal recessive


HPO:

32
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 coarse facial features, intellectual disability and wide nasal bridge. 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 22 family:

Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Recessive, 52
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 6
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 10 Mental Retardation 105

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 45

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
intellectual disability, mild to moderate

Head And Neck- Nose:
fleshy nares
broad nasal bridge

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

Head And Neck- Mouth:
thick prominent lips

Head And Neck- Eyes:
thick eyebrows
deep-set eyes


Clinical features from OMIM:

615979

Human phenotypes related to Mental Retardation, Autosomal Recessive 45:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 coarse facial features 32 HP:0000280
2 intellectual disability 32 HP:0001249
3 wide nasal bridge 32 HP:0000431
4 prominent supraorbital ridges 32 HP:0000336
5 thick eyebrow 32 HP:0000574
6 deeply set eye 32 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:

39
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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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