MCID: MNT273
MIFTS: 22

Mental Retardation, Autosomal Dominant 44

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 44

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 44:

Name: Mental Retardation, Autosomal Dominant 44 57 75 29 6
Mrd44 57 12 75
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome 59
Autosomal Dominant Non-Syndromic Intellectual Disability 44 12
Autosomal Dominant Mental Retardation 44 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

32
mental retardation, autosomal dominant 44:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 44

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 44: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD44 patients manifest developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly.

MalaCards based summary : Mental Retardation, Autosomal Dominant 44, is also known as mrd44. An important gene associated with Mental Retardation, Autosomal Dominant 44 is TRIO (Trio Rho Guanine Nucleotide Exchange Factor). Related phenotypes are high palate and microcephaly

OMIM : 57 Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016). (617061)

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of TRIO on chromosome 5p15.2.

Related Diseases for Mental Retardation, Autosomal Dominant 44

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 Dominant 44

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
brachydactyly
tapering fingers
broad interphalangeal joints

Head And Neck Nose:
short nose
straight nose

Head And Neck Teeth:
dental crowding
hypodontia

Head And Neck Eyes:
synophrys
downslanting palpebral fissures
thick eyebrows
upslanting palpebral fissures

Neurologic Central Nervous System:
poor speech
learning difficulties
seizures (1 patient)
delayed speech
delayed motor development, mild
more
Immunology:
recurrent infections (in some patients)

Skeletal Spine:
kyphosis (in some patients)

Head And Neck Mouth:
high palate
full lips

Head And Neck Face:
micrognathia
high forehead
asymmetric face
pointed jaw
pointed features

Neurologic Behavioral Psychiatric Manifestations:
obsessive-compulsive behavior
aggressive behavior
attention deficit-hyperactivity disorder
autistic-like features

Skeletal Feet:
2-3 toe syndactyly

Head And Neck Ears:
large ears

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Head And Neck Head:
microcephaly (in most patients, up to -5.4 sd)


Clinical features from OMIM:

617061

Human phenotypes related to Mental Retardation, Autosomal Dominant 44:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 microcephaly 32 HP:0000252
3 micrognathia 32 HP:0000347
4 high forehead 32 HP:0000348
5 macrotia 32 HP:0000400
6 downslanted palpebral fissures 32 HP:0000494
7 thick eyebrow 32 HP:0000574
8 upslanted palpebral fissure 32 HP:0000582
9 synophrys 32 HP:0000664
10 hypodontia 32 HP:0000668
11 dental crowding 32 HP:0000678
12 aggressive behavior 32 HP:0000718
13 obsessive-compulsive behavior 32 HP:0000722
14 delayed speech and language development 32 HP:0000750
15 brachydactyly 32 HP:0001156
16 tapered finger 32 HP:0001182
17 seizures 32 occasional (7.5%) HP:0001250
18 motor delay 32 HP:0001270
19 poor speech 32 HP:0002465
20 recurrent infections 32 occasional (7.5%) HP:0002719
21 kyphosis 32 occasional (7.5%) HP:0002808
22 short nose 32 HP:0003196
23 2-3 toe syndactyly 32 HP:0004691
24 attention deficit hyperactivity disorder 32 HP:0007018
25 feeding difficulties 32 occasional (7.5%) HP:0011968
26 thick vermilion border 32 HP:0012471
27 clinodactyly 32 HP:0030084

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 44

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 44

Genetic Tests for Mental Retardation, Autosomal Dominant 44

Genetic tests related to Mental Retardation, Autosomal Dominant 44:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 44 29 TRIO

Anatomical Context for Mental Retardation, Autosomal Dominant 44

Publications for Mental Retardation, Autosomal Dominant 44

Variations for Mental Retardation, Autosomal Dominant 44

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 44:

75
# Symbol AA change Variation ID SNP ID
1 TRIO p.Arg1428Gln VAR_077096 rs879255626
2 TRIO p.Pro1461Thr VAR_077097 rs879255627

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 44:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIO NM_007118.3(TRIO): c.4128G> A (p.Trp1376Ter) single nucleotide variant Pathogenic rs879255622 GRCh37 Chromosome 5, 14390409: 14390409
2 TRIO NM_007118.3(TRIO): c.4128G> A (p.Trp1376Ter) single nucleotide variant Pathogenic rs879255622 GRCh38 Chromosome 5, 14390300: 14390300
3 TRIO NM_007118.3(TRIO): c.3752delA (p.Asp1251Valfs) deletion Pathogenic rs879255623 GRCh38 Chromosome 5, 14387619: 14387619
4 TRIO NM_007118.3(TRIO): c.3752delA (p.Asp1251Valfs) deletion Pathogenic rs879255623 GRCh37 Chromosome 5, 14387728: 14387728
5 TRIO NM_007118.3(TRIO): c.649A> T (p.Arg217Ter) single nucleotide variant Pathogenic rs879255624 GRCh38 Chromosome 5, 14290824: 14290824
6 TRIO NM_007118.3(TRIO): c.649A> T (p.Arg217Ter) single nucleotide variant Pathogenic rs879255624 GRCh37 Chromosome 5, 14290933: 14290933
7 TRIO NM_007118.3(TRIO): c.4466delA (p.Gln1489Argfs) deletion Pathogenic rs879255625 GRCh38 Chromosome 5, 14398922: 14398922
8 TRIO NM_007118.3(TRIO): c.4466delA (p.Gln1489Argfs) deletion Pathogenic rs879255625 GRCh37 Chromosome 5, 14399031: 14399031
9 TRIO NM_007118.3(TRIO): c.4283G> A (p.Arg1428Gln) single nucleotide variant Pathogenic rs879255626 GRCh37 Chromosome 5, 14394211: 14394211
10 TRIO NM_007118.3(TRIO): c.4283G> A (p.Arg1428Gln) single nucleotide variant Pathogenic rs879255626 GRCh38 Chromosome 5, 14394102: 14394102
11 TRIO NM_007118.3(TRIO): c.4381C> A (p.Pro1461Thr) single nucleotide variant Pathogenic rs879255627 GRCh37 Chromosome 5, 14397221: 14397221
12 TRIO NM_007118.3(TRIO): c.4381C> A (p.Pro1461Thr) single nucleotide variant Pathogenic rs879255627 GRCh38 Chromosome 5, 14397112: 14397112
13 TRIO NM_007118.3(TRIO): c.3239A> T (p.Asn1080Ile) single nucleotide variant Pathogenic rs879255628 GRCh37 Chromosome 5, 14374360: 14374360
14 TRIO NM_007118.3(TRIO): c.3239A> T (p.Asn1080Ile) single nucleotide variant Pathogenic rs879255628 GRCh38 Chromosome 5, 14374251: 14374251
15 TRIO NM_007118.3(TRIO): c.634G> T (p.Glu212Ter) single nucleotide variant Pathogenic rs1057516029 GRCh37 Chromosome 5, 14290918: 14290918
16 TRIO NM_007118.3(TRIO): c.634G> T (p.Glu212Ter) single nucleotide variant Pathogenic rs1057516029 GRCh38 Chromosome 5, 14290809: 14290809

Expression for Mental Retardation, Autosomal Dominant 44

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 44.

Pathways for Mental Retardation, Autosomal Dominant 44

GO Terms for Mental Retardation, Autosomal Dominant 44

Sources for Mental Retardation, Autosomal Dominant 44

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