MRD59
MCID: INT386
MIFTS: 17

Intellectual Developmental Disorder, Autosomal Dominant 59 (MRD59)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 59

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 59:

Name: Intellectual Developmental Disorder, Autosomal Dominant 59 57
Mental Retardation, Autosomal Dominant 59 57 72
Mrd59 57 72
Intellectual Developmental Disorder 59 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
two unrelated patients have been reported (last curated july 2019)
non-neurologic features are variable


HPO:

31
intellectual developmental disorder, autosomal dominant 59:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618522
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607

Summaries for Intellectual Developmental Disorder, Autosomal Dominant 59

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder 59: 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.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Dominant 59, is also known as mental retardation, autosomal dominant 59. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 59 is CAMK2G (Calcium/Calmodulin Dependent Protein Kinase II Gamma). Related phenotypes are fragile nails and macrocephaly

More information from OMIM: 618522 PS156200

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 59

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Dominant 59:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 fragile nails 31 very rare (1%) HP:0001808
2 macrocephaly 31 HP:0000256
3 global developmental delay 31 HP:0001263
4 flat face 31 HP:0012368
5 low-set ears 31 HP:0000369
6 myopia 31 HP:0000545
7 brachydactyly 31 HP:0001156
8 highly arched eyebrow 31 HP:0002553
9 long philtrum 31 HP:0000343
10 protruding ear 31 HP:0000411
11 high forehead 31 HP:0000348
12 short foot 31 HP:0001773
13 short palm 31 HP:0004279
14 generalized hypotonia 31 HP:0001290
15 mild short stature 31 HP:0003502
16 long palpebral fissure 31 HP:0000637
17 narrow forehead 31 HP:0000341
18 facial hypotonia 31 HP:0000297
19 flat forehead 31 HP:0004425

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
impaired language development
impaired intellectual development
no seizures

Head And Neck Ears:
low-set ears
prominent ears

Skeletal Hands:
brachydactyly
short hands

Skeletal Feet:
short feet
large first toes

Growth Height:
short stature, mild

Head And Neck Nose:
tubular nose
full nasal tip

Skin Nails Hair Nails:
brittle nails (1 patient)

Head And Neck Face:
flat face
long philtrum
narrow forehead
facial hypotonia
flat forehead
more
Head And Neck Eyes:
myopia
arched eyebrows
long palpebral fissures
glaucoma, juvenile

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Head:
large head circumference

Skin Nails Hair Skin:
vascular malformations (1 patient)

Clinical features from OMIM®:

618522 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 59

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Dominant 59

Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 59

Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 59

Publications for Intellectual Developmental Disorder, Autosomal Dominant 59

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 59:

# Title Authors PMID Year
1
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. 57
30184290 2018
2
Diagnostic exome sequencing in persons with severe intellectual disability. 57
23033978 2012

Variations for Intellectual Developmental Disorder, Autosomal Dominant 59

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 59:

72
# Symbol AA change Variation ID SNP ID
1 CAMK2G p.Arg292Pro VAR_069390 rs397514627

Expression for Intellectual Developmental Disorder, Autosomal Dominant 59

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Dominant 59.

Pathways for Intellectual Developmental Disorder, Autosomal Dominant 59

GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 59

Sources for Intellectual Developmental Disorder, Autosomal Dominant 59

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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