Mental Retardation, Autosomal Dominant 40 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, Autosomal Dominant 40

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 40:

Name: Mental Retardation, Autosomal Dominant 40 ⁵⁷ ⁷³ ²⁹ ⁶

Mrd40 ⁵⁷ ¹² ⁷³

Autosomal Dominant Non-Syndromic Intellectual Disability 40 ¹² ¹⁵

Autosomal Dominant Mental Retardation 40 ¹²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Gastrointestinal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070070

OMIM® ⁵⁷ 616579

OMIM Phenotypic Series ⁵⁷ PS156200

MeSH ⁴⁴ D008607

MedGen ⁴¹ C4225275 CN233017

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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 frontal fibrosing alopecia and epstein-barr virus hepatitis. An important gene associated with Mental Retardation, Autosomal Dominant 40 is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Human cytomegalovirus infection. Related phenotypes are microcephaly and intellectual disability

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 on chromosome 13q34.

More information from OMIM: 616579 PS156200

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Related Diseases for Mental Retardation, Autosomal Dominant 40

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

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

(show top 50) (show all 96)

#	Related Disease	Score	Top Affiliating Genes
1	frontal fibrosing alopecia	10.3	HLA-B HLA-A
2	epstein-barr virus hepatitis	10.3	HLA-B HLA-A
3	selective igg deficiency disease	10.2	HLA-B HLA-A
4	caplan's syndrome	10.2	HLA-DRB1 HLA-A
5	colorectal cancer, hereditary nonpolyposis, type 8	10.2	HLA-B HLA-A
6	intermediate uveitis	10.2	HLA-DRB1 HLA-B
7	trachoma	10.1	HLA-DRB1 HLA-B
8	postherpetic neuralgia	10.1	HLA-DRB1 HLA-B HLA-A
9	htlv-1 associated myelopathy/tropical spastic paraparesis	10.1	HLA-DRB1 HLA-B HLA-A
10	nontuberculous mycobacterial lung disease	10.1	HLA-DRB1 HLA-B HLA-A
11	buerger disease	10.1	HLA-DRB1 CD34
12	pityriasis rosea	10.1	HLA-DRB1 HLA-B HLA-A
13	pars planitis	10.1	HLA-DRB1 HLA-B HLA-A
14	red cell aplasia	10.1	HLA-DRB1 HLA-B HLA-A
15	alveolar echinococcosis	10.1	HLA-DRB1 HLA-B HLA-A
16	paraneoplastic pemphigus	10.1	HLA-DRB1 HLA-B HLA-A
17	histoplasmosis	10.1	HLA-DRB1 HLA-B HLA-A
18	pure red-cell aplasia	10.1	HLA-DRB1 HLA-B HLA-A
19	autoimmune gastritis	10.1	HLA-DRB1 HLA-B HLA-A
20	mental retardation, autosomal dominant 10	10.1	HLA-A CD34
21	aphthous stomatitis	10.1	HLA-DRB1 HLA-B HLA-A
22	herpes zoster	10.1	HLA-DRB1 HLA-B HLA-A
23	vogt-koyanagi-harada disease	10.1	HLA-DRB1 HLA-B HLA-A
24	graft-versus-host disease	10.1	HLA-DRB1 HLA-B HLA-A
25	idiopathic bronchiectasis	10.1	HLA-DRB1 HLA-B HLA-A
26	severe cutaneous adverse reaction	10.1	HLA-DRB1 HLA-B HLA-A
27	sympathetic ophthalmia	10.1	HLA-DRB1 CXCL12
28	takayasu arteritis	10.1	HLA-DRB1 HLA-B HLA-A
29	rubella	10.1	HLA-DRB1 HLA-B HLA-A
30	leprosy 3	10.1	HLA-DRB1 HLA-B HLA-A
31	tropical spastic paraparesis	10.1	HLA-B HLA-A B2M
32	alopecia areata	10.1	HLA-DRB1 HLA-B HLA-A
33	danubian endemic familial nephropathy	10.1	HLA-A B2M
34	chronic pyelonephritis	10.1	HLA-B HLA-A B2M
35	psoriatic arthritis	10.0	HLA-DRB1 HLA-B HLA-A
36	measles	10.0	HLA-DRB1 HLA-B HLA-A
37	lower lip cancer	10.0	CXCR4 CD34
38	intraocular lymphoma	10.0	CXCR4 CXCL12
39	macroglossia	10.0	CSF3 B2M
40	stevens-johnson syndrome/toxic epidermal necrolysis	10.0	HLA-B HLA-A CXCR4
41	behcet syndrome	10.0	HLA-DRB1 HLA-B HLA-A
42	acute disseminated encephalomyelitis	9.9	HLA-DRB1 HLA-B CSF3
43	polyradiculoneuropathy	9.9	CXCR4 CXCL12
44	orbital granuloma	9.9	CSF3 CD34
45	acquired immunodeficiency syndrome	9.9	HLA-B CD34 B2M
46	plasma protein metabolism disease	9.9	CXCR4 B2M
47	paroxysmal nocturnal hemoglobinuria	9.9	HLA-DRB1 HLA-A CSF3
48	celiac disease 1	9.9	HLA-DRB1 HLA-B HLA-A DPP4
49	kaposi sarcoma	9.9	HLA-B HLA-A CD34
50	aids dementia complex	9.9	CXCR4 CXCL12 B2M

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

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Respiratory:
recurrent respiratory infections

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

Skeletal:
joint hypermobility

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

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)

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Head And Neck Ears:
low-set ears

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

Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM®:

616579 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 40:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.56	B2M CD34 CSF3 CXCL12 CXCR4 DPP4
2	immune system	MP:0005387	9.23	B2M CD34 CSF3 CXCL12 CXCR4 DPP4

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Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 40

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

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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

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Anatomical Context for Mental Retardation, Autosomal Dominant 40

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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. ⁵⁷ ⁶	Hempel M...Lessel D	26340335	2015
2	Large-scale discovery of novel genetic causes of developmental disorders. ⁵⁷ ⁶	Deciphering Developmental Disorders Study	25533962	2015
3	Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ⁶ ⁵⁷	Rauch A...Strom TM	23020937	2012

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Genes for Mental Retardation, Autosomal Dominant 40

Genes related to Mental Retardation, Autosomal Dominant 40 (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	1043.05	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26340335
2	HLA-B	Major Histocompatibility Complex, Class I, B	Protein Coding	4.43	DISEASES inferred ¹⁵
3	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	4.2	DISEASES inferred ¹⁵
4	HLA-A	Major Histocompatibility Complex, Class I, A	Protein Coding	4.2	DISEASES inferred ¹⁵
5	DPP4	Dipeptidyl Peptidase 4	Protein Coding	3.76	DISEASES inferred ¹⁵
6	B2M	Beta-2-Microglobulin	Protein Coding	3.75	DISEASES inferred ¹⁵
7	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	3.66	DISEASES inferred ¹⁵
8	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	3.63	DISEASES inferred ¹⁵
9	CSF3	Colony Stimulating Factor 3	Protein Coding	3.52	DISEASES inferred ¹⁵
10	NOTCH1	Notch Receptor 1	Protein Coding	3.44	DISEASES inferred ¹⁵
11	CD34	CD34 Molecule	Protein Coding	3.24	DISEASES inferred ¹⁵

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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.1866_1867del (p.Asp622fs)	Deletion	Pathogenic	208417	rs797044963	13:115091182-115091183	13:114325707-114325708
2	CHAMP1	NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)	SNV	Pathogenic	208416	rs200070245	13:115091085-115091085	13:114325610-114325610
3	CHAMP1	NM_032436.4(CHAMP1):c.635del (p.Pro212fs)	Deletion	Pathogenic	208414	rs797044961	13:115089949-115089949	13:114324474-114324474
4	CHAMP1	NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)	SNV	Pathogenic	210049	rs879255261	13:115090319-115090319	13:114324844-114324844
5	CHAMP1	NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)	SNV	Pathogenic	210050	rs782397980	13:115090806-115090806	13:114325331-114325331
6	CHAMP1	NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)	SNV	Pathogenic	208415	rs797044962	13:115090509-115090509	13:114325034-114325034
7	CHAMP1	NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)	Duplication	Likely pathogenic	827777	rs1594129609	13:115089977-115089978	13:114324502-114324503
8	CHAMP1	NM_032436.4(CHAMP1):c.170A>G (p.Lys57Arg)	SNV	Uncertain significance	930435		13:115089487-115089487	13:114324012-114324012
9	CHAMP1	NM_032436.4(CHAMP1):c.1339G>T (p.Asp447Tyr)	SNV	Uncertain significance	930705		13:115090656-115090656	13:114325181-114325181
10	CHAMP1	NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser)	SNV	Uncertain significance	592137	rs1430511251	13:115090467-115090467	13:114324992-114324992

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Expression for Mental Retardation, Autosomal Dominant 40

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

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Pathways for Mental Retardation, Autosomal Dominant 40

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

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	13.11	HLA-DRB1 HLA-B HLA-A CSF3 B2M
2	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.6	HLA-B HLA-A CXCR4 CXCL12 B2M
3	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.59	HLA-DRB1 HLA-B HLA-A B2M
4	Herpes simplex virus 1 infection ³⁶	12.57	HLA-DRB1 HLA-B HLA-A B2M
5	NF-kappaB Signaling ⁴	12.29	CXCR4 CXCL12 CD34 B2M
6	Interferon gamma signaling ⁶⁵ Show member pathways Interferon Signaling ⁶⁵ Regulation of IFNG signaling ⁶⁵	12.25	HLA-DRB1 HLA-B HLA-A B2M
7	Human T-cell leukemia virus 1 infection ³⁶	12.01	HLA-DRB1 HLA-B HLA-A B2M
8	Phagosome ³⁶	11.92	HLA-DRB1 HLA-B HLA-A
9	Allograft rejection ³⁶ ¹ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	11.84	HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12 B2M
10	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.78	NOTCH1 CSF3 CD34
11	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²³	11.75	HLA-DRB1 HLA-A B2M
12	Cell adhesion molecules ³⁶	11.73	HLA-DRB1 HLA-B HLA-A CD34
13	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.72	HLA-DRB1 HLA-A B2M
14	Hematopoietic cell lineage ³⁶	11.67	HLA-DRB1 CSF3 CD34
15	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.59	HLA-B HLA-A CD34 B2M
16	CXCR4-mediated signaling events ¹	11.49	HLA-DRB1 CXCR4 CXCL12
17	Hematopoietic Stem Cell Differentiation ¹	11.18	NOTCH1 CXCR4 CSF3
18	Syndecan-4-mediated signaling events ¹	11.08	CXCR4 CXCL12
19	Cytokines and Inflammatory Response ¹	11.05	HLA-DRB1 CSF3
20	Amplification and Expansion of Oncogenic Pathways as Metastatic Traits ¹	10.78	NOTCH1 CXCR4
21	Antigen Presentation- Folding, assembly and peptide loading of class I MHC ⁶⁵	10.53	HLA-B HLA-A B2M

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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 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	10.15	NOTCH1 HLA-DRB1 HLA-B HLA-A DPP4 CXCR4
2	extracellular exosome	GO:0070062	10.02	HLA-DRB1 HLA-B HLA-A DPP4 CXCR4 CXCL12
3	Golgi membrane	GO:0000139	9.8	NOTCH1 HLA-DRB1 HLA-B HLA-A B2M
4	external side of plasma membrane	GO:0009897	9.72	HLA-DRB1 CXCR4 CXCL12 CD34 B2M
5	early endosome membrane	GO:0031901	9.69	HLA-B HLA-A B2M
6	recycling endosome membrane	GO:0055038	9.61	HLA-B HLA-A B2M
7	phagocytic vesicle membrane	GO:0030670	9.54	HLA-B HLA-A B2M
8	MHC class I peptide loading complex	GO:0042824	9.46	HLA-A B2M
9	integral component of lumenal side of endoplasmic reticulum membrane	GO:0071556	9.43	HLA-DRB1 HLA-B HLA-A
10	MHC class I protein complex	GO:0042612	9.33	HLA-B HLA-A B2M
11	ER to Golgi transport vesicle membrane	GO:0012507	9.26	HLA-DRB1 HLA-B HLA-A B2M
12	cell surface	GO:0009986	9.23	NOTCH1 HLA-DRB1 HLA-B HLA-A DPP4 CXCR4

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

(show all 24)

#	Name	GO ID	Score	Top Affiliating Genes
1	viral process	GO:0016032	9.91	HLA-B HLA-A CXCR4 CXCL12
2	positive regulation of cell proliferation	GO:0008284	9.9	NOTCH1 DPP4 CXCL12 CSF3
3	axon guidance	GO:0007411	9.79	NOTCH1 CXCR4 CXCL12
4	response to hypoxia	GO:0001666	9.76	DPP4 CXCR4 CXCL12
5	regulation of immune response	GO:0050776	9.76	HLA-B HLA-A CD34 B2M
6	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:0002479	9.69	HLA-B HLA-A B2M
7	interferon-gamma-mediated signaling pathway	GO:0060333	9.62	HLA-DRB1 HLA-B HLA-A B2M
8	regulation of calcium ion transport	GO:0051924	9.61	CXCR4 CXCL12
9	antigen processing and presentation	GO:0019882	9.61	HLA-DRB1 HLA-B HLA-A
10	negative regulation of neurogenesis	GO:0050768	9.59	NOTCH1 B2M
11	inflammatory response to antigenic stimulus	GO:0002437	9.58	NOTCH1 HLA-DRB1
12	detection of temperature stimulus involved in sensory perception of pain	GO:0050965	9.57	CXCR4 CXCL12
13	detection of mechanical stimulus involved in sensory perception of pain	GO:0050966	9.56	CXCR4 CXCL12
14	antigen processing and presentation of endogenous peptide antigen via MHC class I	GO:0019885	9.55	HLA-A B2M
15	positive regulation of T cell cytokine production	GO:0002726	9.54	HLA-A B2M
16	antigen processing and presentation of peptide antigen via MHC class I	GO:0002474	9.54	HLA-B HLA-A B2M
17	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	GO:0002486	9.52	HLA-B HLA-A
18	protection from natural killer cell mediated cytotoxicity	GO:0042270	9.49	HLA-B HLA-A
19	telencephalon cell migration	GO:0022029	9.48	CXCR4 CXCL12
20	detection of bacterium	GO:0016045	9.43	HLA-DRB1 HLA-B HLA-A
21	response to ultrasound	GO:1990478	9.4	CXCR4 CXCL12
22	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	GO:0002480	9.33	HLA-B HLA-A B2M
23	positive regulation of T cell mediated cytotoxicity	GO:0001916	9.26	HLA-DRB1 HLA-B HLA-A B2M
24	immune response	GO:0006955	9.23	NOTCH1 HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12

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

#	Name	GO ID	Score	Top Affiliating Genes
1	signaling receptor binding	GO:0005102	9.56	HLA-B HLA-A DPP4 CXCL12
2	T cell receptor binding	GO:0042608	9.16	HLA-DRB1 HLA-A
3	TAP binding	GO:0046977	8.96	HLA-B HLA-A
4	peptide antigen binding	GO:0042605	8.8	HLA-DRB1 HLA-B HLA-A

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Sources for Mental Retardation, Autosomal Dominant 40

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Mental Retardation, Autosomal Dominant 40 (MRD40)

Aliases & Classifications for Mental Retardation, Autosomal Dominant 40

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 40:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, Autosomal Dominant 40

Related Diseases for Mental Retardation, Autosomal Dominant 40

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 40:

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 40

Genetic Tests for Mental Retardation, Autosomal Dominant 40

Genetic tests related to Mental Retardation, Autosomal Dominant 40:

Anatomical Context for Mental Retardation, Autosomal Dominant 40

Publications for Mental Retardation, Autosomal Dominant 40

Articles related to Mental Retardation, Autosomal Dominant 40:

Genes for Mental Retardation, Autosomal Dominant 40

Genes related to Mental Retardation, Autosomal Dominant 40 (1 elite genes):

Variations for Mental Retardation, Autosomal Dominant 40

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

Expression 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:

GO Terms for Mental Retardation, Autosomal Dominant 40

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

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

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

Sources for Mental Retardation, Autosomal Dominant 40