MRD44
MCID: INT373
MIFTS: 27

Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly (MRD44)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly:

Name: Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly 56
Mental Retardation, Autosomal Dominant 44 56 73 29 6
Mrd44 56 73
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome 58
Mental Retardation, Autosomal Dominant, Type 44 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation (in most patients)


HPO:

31
intellectual developmental disorder, autosomal dominant 44, with microcephaly:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

UniProtKB/Swiss-Prot : 73 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 : Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly, also known as mental retardation, autosomal dominant 44, is related to autosomal dominant non-syndromic intellectual disability 44. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly is TRIO (Trio Rho Guanine Nucleotide Exchange Factor). Related phenotypes are global developmental delay and intellectual disability, mild

OMIM : 56 Autosomal dominant intellectual developmental disorder-44 with microcephaly (MRD44) 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. Additional features are highly variable (summary by Ba et al., 2016). (617061)

Related Diseases for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

Diseases related to Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 44 11.3

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
4 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
5 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
6 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
7 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
8 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
9 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
10 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
11 recurrent infections 58 31 occasional (7.5%) Frequent (79-30%) HP:0002719
12 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
13 2-3 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004691
14 congenital microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0011451
15 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
16 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
17 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
18 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
19 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
20 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
21 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
22 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
24 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
25 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
26 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
27 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
28 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
29 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
30 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
31 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
32 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
33 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
34 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
35 intellectual disability, borderline 58 31 occasional (7.5%) Occasional (29-5%) HP:0006889
36 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
37 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
38 postnatal microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0005484
39 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
40 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
41 self-mutilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000742
42 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
43 aplasia of the 1st metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010035
44 chronic constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012450
45 complete atrioventricular canal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001674
46 congenital ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007970
47 unerupted tooth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000706
48 unilateral radial aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011908
49 slanting of the palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0200006
50 feeding difficulties 31 occasional (7.5%) HP:0011968

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
short nose
straight nose

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

Skeletal Hands:
brachydactyly
clinodactyly
tapering fingers
broad interphalangeal joints

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

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

Skeletal Spine:
kyphosis (in some patients)

Head And Neck Mouth:
high palate
full lips

Head And Neck Teeth:
dental crowding
hypodontia

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

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly

Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

Genetic tests related to Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly:

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

Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

Publications for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly:

# Title Authors PMID Year
1
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. 6 56
32109419 2020
2
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. 56 6
27418539 2016
3
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 6 56
26721934 2016
4
Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome? 56 6
18388777 2008
5
TRIO-Related Intellectual Disability 6
28796471 2017
6
Clinical significance of de novo and inherited copy-number variation. 56
24038936 2013

Variations for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIO NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)SNV Pathogenic 521730 rs1554062562 5:14359551-14359551 5:14359442-14359442
2 TRIO NM_007118.4(TRIO):c.3895G>A (p.Glu1299Lys)SNV Pathogenic 830228 5:14388735-14388735 5:14388626-14388626
3 TRIO NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)duplication Pathogenic 830230 5:14477003-14477004 5:14476894-14476895
4 TRIO NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter)SNV Pathogenic 253080 rs879255622 5:14390409-14390409 5:14390300-14390300
5 TRIO NM_007118.4(TRIO):c.3752del (p.Asp1251fs)deletion Pathogenic 253081 rs879255623 5:14387728-14387728 5:14387619-14387619
6 TRIO NM_007118.4(TRIO):c.649A>T (p.Arg217Ter)SNV Pathogenic 253082 rs879255624 5:14290933-14290933 5:14290824-14290824
7 TRIO NM_007118.4(TRIO):c.4466del (p.Gln1489fs)deletion Pathogenic 253083 rs879255625 5:14399031-14399031 5:14398922-14398922
8 TRIO NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)SNV Pathogenic 253084 rs879255626 5:14394211-14394211 5:14394102-14394102
9 TRIO NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr)SNV Pathogenic 253085 rs879255627 5:14397221-14397221 5:14397112-14397112
10 TRIO NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile)SNV Pathogenic 253086 rs879255628 5:14374360-14374360 5:14374251-14374251
11 TRIO NM_007118.4(TRIO):c.634G>T (p.Glu212Ter)SNV Pathogenic 369657 rs1057516029 5:14290918-14290918 5:14290809-14290809
12 TRIO NM_007118.4(TRIO):c.4860-2A>GSNV Likely pathogenic 666589 5:14406680-14406680 5:14406571-14406571
13 TRIO NM_007118.4(TRIO):c.4276G>T (p.Val1426Phe)SNV Likely pathogenic 807714 5:14394204-14394204 5:14394095-14394095
14 TRIO NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)SNV Conflicting interpretations of pathogenicity 449111 rs1554065887 5:14374353-14374353 5:14374244-14374244
15 TRIO NM_007118.4(TRIO):c.2891C>T (p.Ala964Val)SNV Uncertain significance 873492 5:14368833-14368833 5:14368724-14368724
16 TRIO NM_007118.4(TRIO):c.2327_2356del (p.Gln776_Phe785del)deletion Uncertain significance 619992 rs1561388639 5:14359565-14359594 5:14359456-14359485
17 TRIO NM_007118.4(TRIO):c.5386C>A (p.Leu1796Met)SNV Uncertain significance 635458 5:14461310-14461310 5:14461201-14461201
18 TRIO NM_007118.4(TRIO):c.2276C>T (p.Thr759Met)SNV Uncertain significance 638405 5:14359525-14359525 5:14359416-14359416

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly:

73
# Symbol AA change Variation ID SNP ID
1 TRIO p.Arg1428Gln VAR_077096 rs879255626
2 TRIO p.Pro1461Thr VAR_077097 rs879255627

Expression for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly.

Pathways for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 44, with...

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