MCID: MNT150
MIFTS: 23

Mental Retardation, Autosomal Recessive 15

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 15

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 15:

Name: Mental Retardation, Autosomal Recessive 15 57 75 29 13 6 73
Mrt15 57 75
Mental Retardation Non-Syndromic Autosomal Recessive 15 75
Mental Retardation, Autosomal Recessive, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
dysmorphic features are variable


HPO:

32
mental retardation, autosomal recessive 15:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 15

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal recessive 15: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Recessive 15, is also known as mrt15. An important gene associated with Mental Retardation, Autosomal Recessive 15 is MAN1B1 (Mannosidase Alpha Class 1B Member 1). Related phenotypes are malar flattening and hypertelorism

Description from OMIM: 614202

Related Diseases for Mental Retardation, Autosomal Recessive 15

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 15

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
malar flattening
short philtrum
long face
pointed chin
flat philtrum
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Head And Neck Mouth:
thin upper lip

Skin Nails Hair Hair:
broad eyebrows
long eyebrows

Head And Neck Head:
dolichocephaly, mild

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
broad eyebrows
long eyebrows

Head And Neck Nose:
prominent nose
broad nasal root

Neurologic Central Nervous System:
delayed psychomotor development
seizures (variable)
mental retardation, moderate to profound

Growth Weight:
obesity (in 1 family)


Clinical features from OMIM:

614202

Human phenotypes related to Mental Retardation, Autosomal Recessive 15:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 obesity 32 occasional (7.5%) HP:0001513
4 seizures 32 HP:0001250
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 smooth philtrum 32 HP:0000319
8 dolichocephaly 32 HP:0000268
9 intellectual disability, moderate 32 HP:0002342
10 short philtrum 32 HP:0000322
11 downslanted palpebral fissures 32 HP:0000494
12 long face 32 HP:0000276
13 thin upper lip vermilion 32 HP:0000219
14 aggressive behavior 32 HP:0000718
15 pointed chin 32 HP:0000307
16 prominent nose 32 HP:0000448
17 broad eyebrow 32 HP:0011229
18 long eyebrows 32 HP:0004523

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 15

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 15

Genetic Tests for Mental Retardation, Autosomal Recessive 15

Genetic tests related to Mental Retardation, Autosomal Recessive 15:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 15 29 MAN1B1

Anatomical Context for Mental Retardation, Autosomal Recessive 15

Publications for Mental Retardation, Autosomal Recessive 15

Variations for Mental Retardation, Autosomal Recessive 15

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 15:

75
# Symbol AA change Variation ID SNP ID
1 MAN1B1 p.Arg334Cys VAR_066592 rs387906886
2 MAN1B1 p.Glu397Lys VAR_066593 rs387906885

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 15:

6
(show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAN1B1 NM_016219.4(MAN1B1): c.1189G> A (p.Glu397Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906885 GRCh37 Chromosome 9, 139996059: 139996059
2 MAN1B1 NM_016219.4(MAN1B1): c.1189G> A (p.Glu397Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906885 GRCh38 Chromosome 9, 137101607: 137101607
3 MAN1B1 MAN1B1, TRP473TER single nucleotide variant Pathogenic
4 MAN1B1 NM_016219.4(MAN1B1): c.1000C> T (p.Arg334Cys) single nucleotide variant Pathogenic rs387906886 GRCh37 Chromosome 9, 139995540: 139995540
5 MAN1B1 NM_016219.4(MAN1B1): c.1000C> T (p.Arg334Cys) single nucleotide variant Pathogenic rs387906886 GRCh38 Chromosome 9, 137101088: 137101088
6 MAN1B1 NM_016219.4(MAN1B1): c.1276_1277delCA (p.Gln426Alafs) deletion Pathogenic rs794729645 GRCh37 Chromosome 9, 140000598: 140000599
7 MAN1B1 NM_016219.4(MAN1B1): c.1276_1277delCA (p.Gln426Alafs) deletion Pathogenic rs794729645 GRCh38 Chromosome 9, 137106146: 137106147
8 MAN1B1 NM_016219.4(MAN1B1): c.530_542delTGAAGGATGGGAC (p.Leu177Profs) deletion Likely pathogenic rs797045688 GRCh37 Chromosome 9, 139990753: 139990765
9 MAN1B1 NM_016219.4(MAN1B1): c.530_542delTGAAGGATGGGAC (p.Leu177Profs) deletion Likely pathogenic rs797045688 GRCh38 Chromosome 9, 137096301: 137096313
10 MAN1B1 NM_016219.4(MAN1B1): c.635T> G (p.Val212Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs186504463 GRCh37 Chromosome 9, 139992294: 139992294
11 MAN1B1 NM_016219.4(MAN1B1): c.635T> G (p.Val212Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs186504463 GRCh38 Chromosome 9, 137097842: 137097842
12 MAN1B1 NM_016219.4(MAN1B1): c.1980C> T (p.Phe660=) single nucleotide variant Conflicting interpretations of pathogenicity rs140496149 GRCh37 Chromosome 9, 140002923: 140002923
13 MAN1B1 NM_016219.4(MAN1B1): c.1980C> T (p.Phe660=) single nucleotide variant Conflicting interpretations of pathogenicity rs140496149 GRCh38 Chromosome 9, 137108471: 137108471
14 MAN1B1 NM_016219.4(MAN1B1): c.768C> T (p.Val256=) single nucleotide variant Conflicting interpretations of pathogenicity rs145906530 GRCh37 Chromosome 9, 139994185: 139994185
15 MAN1B1 NM_016219.4(MAN1B1): c.768C> T (p.Val256=) single nucleotide variant Conflicting interpretations of pathogenicity rs145906530 GRCh38 Chromosome 9, 137099733: 137099733
16 MAN1B1 NM_016219.4(MAN1B1): c.1429G> A (p.Gly477Arg) single nucleotide variant Benign/Likely benign rs75639549 GRCh37 Chromosome 9, 140000751: 140000751
17 MAN1B1 NM_016219.4(MAN1B1): c.1429G> A (p.Gly477Arg) single nucleotide variant Benign/Likely benign rs75639549 GRCh38 Chromosome 9, 137106299: 137106299
18 MAN1B1 NM_016219.4(MAN1B1): c.1255-4G> A single nucleotide variant Likely benign rs201918928 GRCh38 Chromosome 9, 137106121: 137106121
19 MAN1B1 NM_016219.4(MAN1B1): c.1255-4G> A single nucleotide variant Likely benign rs201918928 GRCh37 Chromosome 9, 140000573: 140000573
20 MAN1B1 NM_016219.4(MAN1B1): c.1942C> T (p.Gln648Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 140002885: 140002885
21 MAN1B1 NM_016219.4(MAN1B1): c.1942C> T (p.Gln648Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 137108433: 137108433
22 MAN1B1 NM_016219.4(MAN1B1): c.1897G> T (p.Val633Phe) single nucleotide variant Uncertain significance rs777270726 GRCh37 Chromosome 9, 140002840: 140002840
23 MAN1B1 NM_016219.4(MAN1B1): c.1897G> T (p.Val633Phe) single nucleotide variant Uncertain significance rs777270726 GRCh38 Chromosome 9, 137108388: 137108388
24 MAN1B1 NM_016219.4(MAN1B1): c.1987G> A (p.Glu663Lys) single nucleotide variant Uncertain significance rs371136351 GRCh37 Chromosome 9, 140002930: 140002930
25 MAN1B1 NM_016219.4(MAN1B1): c.1987G> A (p.Glu663Lys) single nucleotide variant Uncertain significance rs371136351 GRCh38 Chromosome 9, 137108478: 137108478
26 MAN1B1 NM_016219.4(MAN1B1): c.564G> A (p.Arg188=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 139990787: 139990787
27 MAN1B1 NM_016219.4(MAN1B1): c.564G> A (p.Arg188=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 137096335: 137096335
28 MAN1B1 NM_016219.4(MAN1B1): c.1713C> T (p.Ile571=) single nucleotide variant Benign rs12000048 GRCh37 Chromosome 9, 140001848: 140001848
29 MAN1B1 NM_016219.4(MAN1B1): c.1713C> T (p.Ile571=) single nucleotide variant Benign rs12000048 GRCh38 Chromosome 9, 137107396: 137107396

Expression for Mental Retardation, Autosomal Recessive 15

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 15.

Pathways for Mental Retardation, Autosomal Recessive 15

GO Terms for Mental Retardation, Autosomal Recessive 15

Sources for Mental Retardation, Autosomal Recessive 15

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