MRD63
MCID: INT377
MIFTS: 19

Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly (MRD63)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly:

Name: Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly 56 73 6
Mrd63 56 73
Mental Retardation, Autosomal Dominant 63, with Macrocephaly 56
Mental Retardation Autosomal Dominant 63, with Macrocephaly 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

31
intellectual developmental disorder, autosomal dominant 63, with macrocephaly:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly: An autosomal dominant 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. MRD63 is characterized by moderate to severe impaired intellectual development with poor or absent speech, global developmental delay, and variable behavioral abnormalities. Variable dysmorphic features are preset in half of the patients.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly, is also known as mrd63. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly is TRIO (Trio Rho Guanine Nucleotide Exchange Factor). Related phenotypes are depressed nasal bridge and hypertelorism

More information from OMIM: 618825 PS156200

Related Diseases for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 very rare (1%) HP:0005280
2 hypertelorism 31 very rare (1%) HP:0000316
3 macrocephaly 31 very rare (1%) HP:0000256
4 delayed speech and language development 31 very rare (1%) HP:0000750
5 microcephaly 31 very rare (1%) HP:0000252
6 anteverted nares 31 very rare (1%) HP:0000463
7 feeding difficulties in infancy 31 very rare (1%) HP:0008872
8 stereotypy 31 very rare (1%) HP:0000733
9 frontal bossing 31 very rare (1%) HP:0002007
10 high palate 31 very rare (1%) HP:0000218
11 wide mouth 31 very rare (1%) HP:0000154
12 dental crowding 31 very rare (1%) HP:0000678
13 delayed eruption of teeth 31 very rare (1%) HP:0000684
14 upslanted palpebral fissure 31 very rare (1%) HP:0000582
15 highly arched eyebrow 31 very rare (1%) HP:0002553
16 long philtrum 31 very rare (1%) HP:0000343
17 underdeveloped nasal alae 31 very rare (1%) HP:0000430
18 aggressive behavior 31 very rare (1%) HP:0000718
19 short chin 31 very rare (1%) HP:0000331
20 chronic constipation 31 very rare (1%) HP:0012450
21 low hanging columella 31 very rare (1%) HP:0009765
22 delayed ability to sit 31 very rare (1%) HP:0025336
23 prominent antihelix 31 very rare (1%) HP:0000395
24 delayed ability to walk 31 very rare (1%) HP:0031936
25 intellectual disability 31 HP:0001249
26 global developmental delay 31 HP:0001263
27 tapered finger 31 HP:0001182

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
inability to walk
seizures (rare)
impaired intellectual development, moderate to severe
delayed walking (3 to 5 years)
more
Head And Neck Nose:
anteverted nares
low hanging columella
high nasal bridge
hypoplastic nares

Head And Neck Mouth:
thin upper lip
large mouth

Head And Neck Teeth:
dental anomalies

Skeletal Feet:
small feet

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Head And Neck Head:
macrocephaly (+2 to +4.7 sd) (in most patients)

Skeletal Spine:
scoliosis

Head And Neck Face:
frontal bossing
high forehead

Head And Neck Eyes:
downslanting palpebral fissures
arched eyebrows
long palpebral fissures

Skeletal Hands:
small hands
tapering fingers

Growth Other:
poor overall growth

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
stereotypies

Head And Neck Ears:
large earlobes

Clinical features from OMIM:

618825

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly

Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

Publications for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly:

# 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. 6 56
27418539 2016

Variations for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIO NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly)SNV Pathogenic 830226 5:14374353-14374353 5:14374244-14374244
2 TRIO NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)SNV Pathogenic 830227 5:14374354-14374354 5:14374245-14374245
3 TRIO NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile)SNV Pathogenic 253086 rs879255628 5:14374360-14374360 5:14374251-14374251
4 TRIO NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)SNV Conflicting interpretations of pathogenicity 449111 rs1554065887 5:14374353-14374353 5:14374244-14374244

Expression for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly.

Pathways for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

Sources for Intellectual Developmental Disorder, Autosomal Dominant 63, with...

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