MRD40
MCID: MNT242
MIFTS: 39

Mental Retardation, Autosomal Dominant 40 (MRD40)

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 40

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 40:

Name: Mental Retardation, Autosomal Dominant 40 56 73 29 6
Mrd40 56 12 73
Autosomal Dominant Non-Syndromic Intellectual Disability 40 12 15
Autosomal Dominant Mental Retardation 40 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth


HPO:

31
mental retardation, autosomal dominant 40:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 40

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 40: 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.

MalaCards based summary : Mental Retardation, Autosomal Dominant 40, also known as mrd40, is related to phenytoin or carbamazepine toxicity and malignant essential hypertension. An important gene associated with Mental Retardation, Autosomal Dominant 40 is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1), and among its related pathways/superpathways are Measles and Herpes simplex virus 1 infection. Related phenotypes are microcephaly and low-set ears

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene (616327) on chromosome 13q34.

More information from OMIM: 616579 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 40

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 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 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 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 40 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 phenytoin or carbamazepine toxicity 10.2 HLA-B HLA-A
2 malignant essential hypertension 10.2 HLA-A CABIN1
3 hemorrhagic cystitis 10.2 HLA-A CABIN1
4 colorectal cancer, hereditary nonpolyposis, type 8 10.2 HLA-B HLA-A
5 spastic paraparesis 10.0 HLA-B HLA-A
6 cystic echinococcosis 10.0 HLA-DRB1 HLA-B
7 primary autosomal recessive microcephaly 10.0 CHAMP1 CETN1 CEP192 CEP152
8 waldenstroem's macroglobulinemia 10.0 CXCR4 B2M
9 pyelitis 10.0 CABIN1 B2M
10 intermediate uveitis 9.9 HLA-DRB1 HLA-B
11 acute disseminated encephalomyelitis 9.9 HLA-DRB1 HLA-B
12 postherpetic neuralgia 9.9 HLA-DRB1 HLA-B HLA-A
13 moyamoya angiopathy 9.9 HLA-DRB1 HLA-B HLA-A
14 nontuberculous mycobacterial lung disease 9.9 HLA-DRB1 HLA-B HLA-A
15 idiopathic bronchiectasis 9.9 HLA-DRB1 HLA-B HLA-A
16 red cell aplasia 9.9 HLA-DRB1 HLA-B HLA-A
17 pityriasis rosea 9.9 HLA-DRB1 HLA-B HLA-A
18 pars planitis 9.9 HLA-DRB1 HLA-B HLA-A
19 paraneoplastic pemphigus 9.9 HLA-DRB1 HLA-B HLA-A
20 alveolar echinococcosis 9.9 HLA-DRB1 HLA-B HLA-A
21 pure red-cell aplasia 9.9 HLA-DRB1 HLA-B HLA-A
22 autoimmune gastritis 9.9 HLA-DRB1 HLA-B HLA-A
23 histoplasmosis 9.9 HLA-DRB1 HLA-B HLA-A
24 herpes zoster 9.9 HLA-DRB1 HLA-B HLA-A
25 vogt-koyanagi-harada disease 9.9 HLA-DRB1 HLA-B HLA-A
26 graft-versus-host disease 9.9 HLA-DRB1 HLA-B HLA-A
27 dengue hemorrhagic fever 9.8 HLA-DRB1 HLA-B HLA-A
28 severe cutaneous adverse reaction 9.8 HLA-DRB1 HLA-B HLA-A
29 stevens-johnson syndrome/toxic epidermal necrolysis 9.8 HLA-B HLA-A CXCR4
30 takayasu arteritis 9.8 HLA-DRB1 HLA-B HLA-A
31 chronic pyelonephritis 9.8 HLA-B HLA-A B2M
32 rubella 9.8 HLA-DRB1 HLA-B HLA-A
33 alopecia areata 9.8 HLA-DRB1 HLA-B HLA-A
34 cytomegalovirus infection 9.8 HLA-B HLA-A B2M
35 psoriatic arthritis 9.8 HLA-DRB1 HLA-B HLA-A
36 graves' disease 9.8 HLA-DRB1 HLA-B HLA-A
37 behcet syndrome 9.7 HLA-DRB1 HLA-B HLA-A
38 intraocular lymphoma 9.7 CXCR4 CXCL12
39 spherocytosis, type 5 9.7 CXCR4 CXCL12
40 melanoma, uveal 9.7 HLA-B HLA-A CXCR4
41 sympathetic ophthalmia 9.7 HLA-DRB1 CXCL12
42 panuveitis 9.6 HLA-DRB1 HLA-B
43 whim syndrome 9.5 CXCR4 CXCL12
44 polyradiculoneuropathy 9.4 HLA-DRB1 CXCR4 CXCL12
45 aids dementia complex 9.4 CXCR4 CXCL12 B2M
46 viral infectious disease 9.4 HLA-B HLA-A CXCR4 B2M
47 celiac disease 1 9.4 HLA-DRB1 HLA-B HLA-A DPP4
48 primary biliary cirrhosis 9.4 HLA-DRB1 HLA-B HLA-A DPP4
49 autoimmune disease 9.3 HLA-DRB1 HLA-B HLA-A DPP4
50 cytomegalovirus retinitis 9.3 HLA-DRB1 HLA-B HLA-A CXCL12

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 40:



Diseases related to Mental Retardation, Autosomal Dominant 40

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 40

Human phenotypes related to Mental Retardation, Autosomal Dominant 40:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 low-set ears 31 HP:0000369
3 high palate 31 HP:0000218
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 recurrent respiratory infections 31 HP:0002205
7 feeding difficulties 31 HP:0011968
8 gastroesophageal reflux 31 HP:0002020
9 stereotypy 31 HP:0000733
10 open mouth 31 HP:0000194
11 short philtrum 31 HP:0000322
12 generalized hypotonia 31 HP:0001290
13 tented upper lip vermilion 31 HP:0010804
14 strabismus 31 HP:0000486
15 epicanthus 31 HP:0000286
16 everted lower lip vermilion 31 HP:0000232
17 absent speech 31 HP:0001344
18 gait ataxia 31 HP:0002066
19 upslanted palpebral fissure 31 HP:0000582
20 joint hypermobility 31 HP:0001382
21 impaired pain sensation 31 HP:0007328
22 long face 31 HP:0000276
23 pointed chin 31 HP:0000307
24 hypermetropia 31 HP:0000540
25 facial hypotonia 31 HP:0000297

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
feeding difficulties
gastroesophageal reflux

Head And Neck Face:
short philtrum
long face
pointed chin
hypotonic facies
variable dysmorphic features

Skeletal:
joint hypermobility

Neurologic Central Nervous System:
ataxic gait
delayed psychomotor development
poor or absent speech
decreased pain sensation
intellectual disability, moderate to severe

Head And Neck Head:
microcephaly (-2 to -3 sd) (in some patients)

Respiratory:
recurrent respiratory infections

Head And Neck Mouth:
open mouth
high-arched palate
everted lower lip
tented upper lip

Head And Neck Eyes:
strabismus
epicanthal folds
hyperopia
upslanting palpebral fissures

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
friendly personality
autistic features (in some patients)
stereotypic behavior

Clinical features from OMIM:

616579

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 40

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 40

Genetic Tests for Mental Retardation, Autosomal Dominant 40

Genetic tests related to Mental Retardation, Autosomal Dominant 40:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 40 29 CHAMP1

Anatomical Context for Mental Retardation, Autosomal Dominant 40

Publications for Mental Retardation, Autosomal Dominant 40

Articles related to Mental Retardation, Autosomal Dominant 40:

# Title Authors PMID Year
1
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. 56 6
26340335 2015
2
Large-scale discovery of novel genetic causes of developmental disorders. 56 6
25533962 2015
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6 56
23020937 2012

Variations for Mental Retardation, Autosomal Dominant 40

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 40:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHAMP1 NM_032436.4(CHAMP1):c.635del (p.Pro212fs)deletion Pathogenic 208414 rs797044961 13:115089952-115089952 13:114324477-114324477
2 CHAMP1 NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)SNV Pathogenic 208415 rs797044962 13:115090509-115090509 13:114325034-114325034
3 CHAMP1 NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)SNV Pathogenic 208416 rs200070245 13:115091085-115091085 13:114325610-114325610
4 CHAMP1 NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)deletion Pathogenic 208417 rs797044963 13:115091183-115091184 13:114325708-114325709
5 CHAMP1 NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)SNV Pathogenic 210049 rs879255261 13:115090319-115090319 13:114324844-114324844
6 CHAMP1 NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)SNV Pathogenic 210050 rs782397980 13:115090806-115090806 13:114325331-114325331
7 CHAMP1 NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser)SNV Uncertain significance 592137 rs1430511251 13:115090467-115090467 13:114324992-114324992

Expression for Mental Retardation, Autosomal Dominant 40

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 40.

Pathways for Mental Retardation, Autosomal Dominant 40

Pathways related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 HLA-DRB1 HLA-B HLA-A B2M
2 12.52 HLA-DRB1 HLA-B HLA-A B2M
3
Show member pathways
12.51 HLA-B HLA-A CXCR4 CXCL12 B2M
4 12.22 CXCR4 CXCL12 CABIN1 B2M
5
Show member pathways
12.16 HLA-DRB1 HLA-B HLA-A B2M
6 11.87 HLA-DRB1 HLA-B HLA-A
7 11.84 HLA-DRB1 HLA-B HLA-A
8
Show member pathways
11.84 HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12 B2M
9 11.8 HLA-DRB1 HLA-B HLA-A B2M
10 11.78 HLA-B HLA-A B2M
11
Show member pathways
11.69 HLA-DRB1 HLA-A B2M
12
Show member pathways
11.64 HLA-DRB1 HLA-A B2M
13 11.31 HLA-DRB1 CXCR4 CXCL12
14 11.05 CXCR4 CXCL12
15 11.02 GATD3A CEP192
16 10.53 HLA-B HLA-A B2M

GO Terms for Mental Retardation, Autosomal Dominant 40

Cellular components related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.98 HLA-DRB1 HLA-B HLA-A DPP4 CXCR4 CXCL12
2 external side of plasma membrane GO:0009897 9.71 HLA-DRB1 HLA-B CXCR4 CXCL12
3 early endosome membrane GO:0031901 9.67 HLA-B HLA-A B2M
4 centriole GO:0005814 9.63 CETN1 CEP192 CEP152
5 cell surface GO:0009986 9.63 HLA-DRB1 HLA-B HLA-A DPP4 CXCR4 B2M
6 recycling endosome membrane GO:0055038 9.54 HLA-B HLA-A B2M
7 phagocytic vesicle membrane GO:0030670 9.5 HLA-B HLA-A B2M
8 pericentriolar material GO:0000242 9.48 CEP192 CEP152
9 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.43 HLA-DRB1 HLA-B HLA-A
10 ER to Golgi transport vesicle membrane GO:0012507 9.26 HLA-DRB1 HLA-B HLA-A B2M
11 MHC class I protein complex GO:0042612 8.8 HLA-B HLA-A B2M

Biological processes related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.84 HLA-DRB1 HLA-B CXCR4 CXCL12
2 response to hypoxia GO:0001666 9.72 DPP4 CXCR4 CXCL12
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.63 HLA-B HLA-A B2M
4 immune response GO:0006955 9.63 HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12 B2M
5 regulation of calcium ion transport GO:0051924 9.56 CXCR4 CXCL12
6 antigen processing and presentation GO:0019882 9.54 HLA-DRB1 HLA-B HLA-A
7 centriole replication GO:0007099 9.52 CETN1 CEP152
8 centrosome duplication GO:0051298 9.51 CEP192 CEP152
9 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.49 CXCR4 CXCL12
10 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.48 CXCR4 CXCL12
11 protection from natural killer cell mediated cytotoxicity GO:0042270 9.43 HLA-B HLA-A
12 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.43 HLA-B HLA-A B2M
13 telencephalon cell migration GO:0022029 9.4 CXCR4 CXCL12
14 response to ultrasound GO:1990478 9.32 CXCR4 CXCL12
15 interferon-gamma-mediated signaling pathway GO:0060333 9.26 HLA-DRB1 HLA-B HLA-A B2M
16 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 8.8 HLA-B HLA-A B2M

Molecular functions related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.13 HLA-DRB1 DPP4 CXCR4
2 peptide antigen binding GO:0042605 8.8 HLA-DRB1 HLA-B HLA-A

Sources for Mental Retardation, Autosomal Dominant 40

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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