Mental Retardation, Autosomal Dominant 29 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, Autosomal Dominant 29

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 29:

Name: Mental Retardation, Autosomal Dominant 29 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Mrd29 ⁵⁶ ¹² ⁷³

Autosomal Dominant Non-Syndromic Intellectual Disability 29 ¹² ¹⁵

Mental Retardation, Autosomal Dominant, Type 29 ³⁹

Autosomal Dominant Mental Retardation 29 ¹²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
variable dysmorphic features

HPO:

³¹

mental retardation, autosomal dominant 29:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070059

OMIM ⁵⁶ 616078

OMIM Phenotypic Series ⁵⁶ PS156200

MeSH ⁴³ D008607

MedGen ⁴¹ C4015141 CN220547

UMLS ⁷¹ C4015141

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Summaries for Mental Retardation, Autosomal Dominant 29

UniProtKB/Swiss-Prot : ⁷³ Mental retardation, autosomal dominant 29: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features.

MalaCards based summary : Mental Retardation, Autosomal Dominant 29, also known as mrd29, is related to setbp1 disorder and mixed phenotype acute leukemia. An important gene associated with Mental Retardation, Autosomal Dominant 29 is SETBP1 (SET Binding Protein 1). Related phenotypes are seizure and intellectual disability

Disease Ontology : ¹² An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3.

More information from OMIM: 616078 PS156200

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Related Diseases for Mental Retardation, Autosomal Dominant 29

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Diseases related to Mental Retardation, Autosomal Dominant 29 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	setbp1 disorder	11.5
2	mixed phenotype acute leukemia	10.0	SETBP1 ABL1
3	myelodysplastic/myeloproliferative neoplasm	9.9	SETBP1 ABL1
4	chronic neutrophilic leukemia	9.9	SETBP1 ABL1
5	atypical chronic myeloid leukemia	9.9	SETBP1 ABL1
6	b-lymphoblastic leukemia/lymphoma with hypodiploidy	9.8	PBX1 ABL1
7	b-cell adult acute lymphocytic leukemia	9.8	PBX1 ABL1
8	adult acute lymphocytic leukemia	9.8	PBX1 ABL1
9	b-lymphoblastic leukemia/lymphoma with iamp21	9.8	PBX1 ABL1
10	b-lymphoblastic leukemia/lymphoma with hyperdiploidy	9.8	PBX1 ABL1
11	chronic leukemia	9.7	SETBP1 ABL1
12	leukemia, acute lymphoblastic 3	9.7	PBX1 ABL1
13	childhood acute lymphocytic leukemia	9.6	PBX1 ABL1
14	childhood leukemia	9.4	PBX1 ABL1

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 29:

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Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 29

Human phenotypes related to Mental Retardation, Autosomal Dominant 29:

³¹ (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	seizure ³¹	occasional (7.5%)	HP:0001250
2	intellectual disability ³¹		HP:0001249
3	narrow palate ³¹		HP:0000189
4	hypertelorism ³¹		HP:0000316
5	brachycephaly ³¹		HP:0000248
6	absent speech ³¹		HP:0001344
7	attention deficit hyperactivity disorder ³¹		HP:0007018
8	high palate ³¹		HP:0000218
9	low-set ears ³¹		HP:0000369
10	ptosis ³¹		HP:0000508
11	motor delay ³¹		HP:0001270
12	dental crowding ³¹		HP:0000678
13	downslanted palpebral fissures ³¹		HP:0000494
14	thin upper lip vermilion ³¹		HP:0000219
15	long face ³¹		HP:0000276
16	pointed chin ³¹		HP:0000307
17	synophrys ³¹		HP:0000664

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Mouth:
narrow palate
high palate
thin upper lip

Head And Neck Head:
brachycephaly
dolicocephaly

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder

Head And Neck Face:
long face
pointed chin
dysmorphic facies, variable

Head And Neck Nose:
full nasal tip

Head And Neck Eyes:
hypertelorism
ptosis
synophrys
downslanting palpebral fissures

Neurologic Central Nervous System:
absent speech
delayed motor development
seizures (uncommon)
delayed speech
mental retardation, mild to moderate (iq 30-76)

Head And Neck Ears:
low-set ears

Head And Neck Teeth:
crowded teeth

Clinical features from OMIM:

616078

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:

²⁶ (show all 18)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-10	9.92	IGLL1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-130	9.92	IGLL1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	9.92	SETBP1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.92	ABL1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-157	9.92	ABL1 SETBP1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-181	9.92	SETBP1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	9.92	IGLL1 SETBP1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.92	SETBP1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-194	9.92	SETBP1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	9.92	ABL1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-30	9.92	ABL1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-34	9.92	ABL1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-38	9.92	IGLL1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.92	ABL1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.92	ABL1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-8	9.92	SETBP1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.92	SETBP1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.92	ABL1

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Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 29

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 29

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Genetic Tests for Mental Retardation, Autosomal Dominant 29

Genetic tests related to Mental Retardation, Autosomal Dominant 29:

#	Genetic test	Affiliating Genes
1	Mental Retardation, Autosomal Dominant 29 ²⁹	SETBP1

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Anatomical Context for Mental Retardation, Autosomal Dominant 29

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Publications for Mental Retardation, Autosomal Dominant 29

Articles related to Mental Retardation, Autosomal Dominant 29:

#	Title	Authors	PMID	Year
1	Refining analyses of copy number variation identifies specific genes associated with developmental delay. ⁶ ⁵⁶	Coe BP...Eichler EE	25217958	2014
2	Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ⁵⁶	Rauch A...Strom TM	23020937	2012
3	372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. ⁵⁶	Marseglia G...Torricelli F	22333924	2012
4	Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. ⁵⁶	Filges I...Yamamoto T	21037274	2011
5	The establishment and evaluation of a new model for the prediction of Children B-ALL based on TARGET: A SQUIRE-compliant study. ⁶¹	Gao X...Liu W	32384487	2020

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Genes for Mental Retardation, Autosomal Dominant 29

Genes related to Mental Retardation, Autosomal Dominant 29 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SETBP1	SET Binding Protein 1	Protein Coding	1018.5	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25217958
2	DPCD	Deleted In Primary Ciliary Dyskinesia Homolog (Mouse)	Protein Coding	5.93	DISEASES inferred ¹⁵
3	KCNN1	Potassium Calcium-Activated Channel Subfamily N Member 1	Protein Coding	5.36	DISEASES inferred ¹⁵
4	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	5.12	DISEASES inferred ¹⁵
5	PBX1	PBX Homeobox 1	Protein Coding	4.97	DISEASES inferred ¹⁵
6	IGLL1	Immunoglobulin Lambda Like Polypeptide 1	Protein Coding	4.83	DISEASES inferred ¹⁵
7	PTP4A3	Protein Tyrosine Phosphatase 4A3	Protein Coding	4.82	DISEASES inferred ¹⁵

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Variations for Mental Retardation, Autosomal Dominant 29

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 29:

⁶ (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SETBP1	NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	SNV	Pathogenic	1032	rs267607042	18:42531907-42531907	18:44951942-44951942
2	SETBP1	NM_015559.3(SETBP1):c.2464del (p.Ile822fs)	deletion	Pathogenic	157555	rs606231269	18:42531769-42531769	18:44951803-44951803
3	SETBP1	NM_015559.3(SETBP1):c.1596G>A (p.Trp532Ter)	SNV	Pathogenic	157556	rs672601342	18:42530901-42530901	18:44950936-44950936
4	SETBP1	NM_015559.3(SETBP1):c.3032C>G (p.Ser1011Ter)	SNV	Pathogenic	157557	rs606231270	18:42532337-42532337	18:44952372-44952372
5	SETBP1	NM_015559.3(SETBP1):c.427del (p.Arg143fs)	deletion	Pathogenic	157558	rs606231271	18:42281738-42281738	18:44701771-44701771
6	SETBP1	NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	SNV	Pathogenic	157559	rs606231272	18:42531178-42531178	18:44951213-44951213
7	SETBP1	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	SNV	Pathogenic	157560	rs606231273	18:42531181-42531181	18:44951216-44951216
8	SETBP1	NM_015559.3(SETBP1):c.2016_2017insT (p.Lys673Ter)	insertion	Pathogenic	375633	rs1057519594	18:42531321-42531322	18:44951356-44951357
9	SETBP1	NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter)	SNV	Pathogenic	807682		18:42531730-42531730	18:44951765-44951765
10	SETBP1	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SNV	Conflicting interpretations of pathogenicity	1031	rs267607038	18:42531917-42531917	18:44951952-44951952
11	SETBP1	NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)	SNV	Uncertain significance	548526	rs761385178	18:42529970-42529970	18:44950005-44950005
12	SETBP1	NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys)	SNV	Uncertain significance	638458		18:42532360-42532360	18:44952395-44952395

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Expression for Mental Retardation, Autosomal Dominant 29

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 29.

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Pathways for Mental Retardation, Autosomal Dominant 29

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GO Terms for Mental Retardation, Autosomal Dominant 29

Biological processes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	B cell receptor signaling pathway	GO:0050853	9.26	IGLL1 ABL1
2	thymus development	GO:0048538	9.16	PBX1 ABL1
3	endothelial cell migration	GO:0043542	8.96	PTP4A3 ABL1
4	spleen development	GO:0048536	8.62	PBX1 ABL1

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Sources for Mental Retardation, Autosomal Dominant 29

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Mental Retardation, Autosomal Dominant 29 (MRD29)

Aliases & Classifications for Mental Retardation, Autosomal Dominant 29

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 29:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, Autosomal Dominant 29

Related Diseases for Mental Retardation, Autosomal Dominant 29

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Diseases related to Mental Retardation, Autosomal Dominant 29 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 29:

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 29

Human phenotypes related to Mental Retardation, Autosomal Dominant 29:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 29

Genetic Tests for Mental Retardation, Autosomal Dominant 29

Genetic tests related to Mental Retardation, Autosomal Dominant 29:

Anatomical Context for Mental Retardation, Autosomal Dominant 29

Publications for Mental Retardation, Autosomal Dominant 29

Articles related to Mental Retardation, Autosomal Dominant 29:

Genes for Mental Retardation, Autosomal Dominant 29

Genes related to Mental Retardation, Autosomal Dominant 29 (1 elite genes):

Variations for Mental Retardation, Autosomal Dominant 29

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 29:

Expression for Mental Retardation, Autosomal Dominant 29

Pathways for Mental Retardation, Autosomal Dominant 29

GO Terms for Mental Retardation, Autosomal Dominant 29

Biological processes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:

Sources for Mental Retardation, Autosomal Dominant 29