MRD59
MCID: INT349
MIFTS: 16

Intellectual Developmental Disorder 59 (MRD59)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder 59

MalaCards integrated aliases for Intellectual Developmental Disorder 59:

Name: Intellectual Developmental Disorder 59 56 73
Mental Retardation, Autosomal Dominant 59 56 73
Mrd59 56 73

Characteristics:

OMIM:

56
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 59:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 618522
OMIM Phenotypic Series 56 PS156200
MeSH 43 D008607
MedGen 41 CN262170

Summaries for Intellectual Developmental Disorder 59

UniProtKB/Swiss-Prot : 73 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 59, is also known as mental retardation, autosomal dominant 59. An important gene associated with Intellectual Developmental Disorder 59 is CAMK2G (Calcium/Calmodulin Dependent Protein Kinase II Gamma). Related phenotypes are fragile nails and macrocephaly

More information from OMIM: 618522 PS156200

Related Diseases for Intellectual Developmental Disorder 59

Symptoms & Phenotypes for Intellectual Developmental Disorder 59

Human phenotypes related to Intellectual Developmental Disorder 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 low-set ears 31 HP:0000369
4 global developmental delay 31 HP:0001263
5 brachydactyly 31 HP:0001156
6 long philtrum 31 HP:0000343
7 narrow forehead 31 HP:0000341
8 protruding ear 31 HP:0000411
9 generalized hypotonia 31 HP:0001290
10 highly arched eyebrow 31 HP:0002553
11 short palm 31 HP:0004279
12 short foot 31 HP:0001773
13 flat face 31 HP:0012368
14 myopia 31 HP:0000545
15 high forehead 31 HP:0000348
16 long palpebral fissure 31 HP:0000637
17 mild short stature 31 HP:0003502
18 flat forehead 31 HP:0004425
19 facial hypotonia 31 HP:0000297

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
prominent ears

Skeletal Hands:
brachydactyly
short hands

Head And Neck Eyes:
myopia
arched eyebrows
long palpebral fissures
glaucoma, juvenile

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)

Neurologic Central Nervous System:
global developmental delay
impaired language development
impaired intellectual development
no seizures

Head And Neck Face:
long philtrum
narrow forehead
flat face
flat forehead
facial hypotonia
more
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

Drugs & Therapeutics for Intellectual Developmental Disorder 59

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

Genetic Tests for Intellectual Developmental Disorder 59

Anatomical Context for Intellectual Developmental Disorder 59

Publications for Intellectual Developmental Disorder 59

Articles related to Intellectual Developmental Disorder 59:

# Title Authors PMID Year
1
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. 56
30184290 2018
2
Diagnostic exome sequencing in persons with severe intellectual disability. 56
23033978 2012

Variations for Intellectual Developmental Disorder 59

Expression for Intellectual Developmental Disorder 59

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

Pathways for Intellectual Developmental Disorder 59

GO Terms for Intellectual Developmental Disorder 59

Sources for Intellectual Developmental Disorder 59

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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