Partial Trisomy Distal 4q disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Partial Trisomy Distal 4q

MalaCards integrated aliases for Partial Trisomy Distal 4q:

Name: Partial Trisomy Distal 4q ¹² ¹⁵

Chromosome 4, Partial Trisomy 4q ¹²

Duplication 4q Syndrome, Partial ¹²

Partial Trisomy 4q Syndrome ¹²

Telomeric Duplication 4q ⁵⁸

Dup Syndrome, Partial ¹²

Distal Duplication 4q ⁵⁸

Distal 4q Trisomy ¹²

Distal Trisomy 4q ⁵⁸

Trisomy 4qter ⁵⁸

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Minor partial trisomy

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0111159

ICD10 via Orphanet ³³ Q92.3

Orphanet ⁵⁸ ORPHA96096

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Summaries for Partial Trisomy Distal 4q

Disease Ontology : ¹² A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has material basis in duplication of the distal portion of chromosome 4q.

MalaCards based summary : Partial Trisomy Distal 4q, also known as chromosome 4, partial trisomy 4q, is related to heart septal defect and atrial heart septal defect. An important gene associated with Partial Trisomy Distal 4q is HAND2 (Heart And Neural Crest Derivatives Expressed 2). Affiliated tissues include heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Partial Trisomy Distal 4q

Diseases related to Partial Trisomy Distal 4q via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	heart septal defect	29.9	TBX3 HAND2
2	atrial heart septal defect	29.5	TBX3 NIPBL HAND2
3	chromosomal triplication	10.3
4	choanal atresia, posterior	10.1
5	helix syndrome	10.1
6	congenital hypothyroidism	10.1
7	hypothyroidism	10.1
8	cholecystitis	10.1
9	chromosome 4q duplication	10.1
10	cleft palate, isolated	10.1
11	polydactyly	10.1
12	microcephaly	10.1
13	hypotonia	10.0
14	apert syndrome	9.9	TWIST2 HAND2
15	saethre-chotzen syndrome	9.8	TWIST2 HAND2
16	ulnar-mammary syndrome	9.8	TBX3 HAND2
17	holt-oram syndrome	9.8	TBX3 HAND2
18	chromosome 2q35 duplication syndrome	9.7	NIPBL HAND2
19	double outlet right ventricle	9.7	TBX3 HAND2
20	patent foramen ovale	9.6	TBX3 HAND2
21	tetralogy of fallot	9.5	TBX3 NIPBL HAND2

Graphical network of the top 20 diseases related to Partial Trisomy Distal 4q:

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Symptoms & Phenotypes for Partial Trisomy Distal 4q

GenomeRNAi Phenotypes related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:

²⁶ (show all 16)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.55	HAND2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-126	9.55	HAND2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-144	9.55	HAND2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	9.55	HAND2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-15	9.55	HAND2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-170	9.55	TWIST2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-175	9.55	TWIST2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-197	9.55	HAND2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-20	9.55	TWIST2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-31	9.55	HAND2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.55	HAND2
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-61	9.55	HAND2 TWIST2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-69	9.55	TWIST2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	9.55	TWIST2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-86	9.55	HAND2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-99	9.55	TWIST2

MGI Mouse Phenotypes related to Partial Trisomy Distal 4q:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.73	HAND2 KCNAB2 NIPBL RIMS4 TBX3 TWIST2
2	craniofacial	MP:0005382	9.62	HAND2 NIPBL TBX3 TWIST2
3	hearing/vestibular/ear	MP:0005377	9.46	HAND2 KCNAB2 NIPBL TWIST2
4	limbs/digits/tail	MP:0005371	9.26	HAND2 NIPBL TBX3 TWIST2
5	normal	MP:0002873	9.02	HAND2 KCNAB2 NIPBL TBX3 TWIST2

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Drugs & Therapeutics for Partial Trisomy Distal 4q

Search Clinical Trials , NIH Clinical Center for Partial Trisomy Distal 4q

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Genetic Tests for Partial Trisomy Distal 4q

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Anatomical Context for Partial Trisomy Distal 4q

MalaCards organs/tissues related to Partial Trisomy Distal 4q:

⁴⁰

Heart

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Publications for Partial Trisomy Distal 4q

Articles related to Partial Trisomy Distal 4q:

#	Title	Authors	PMID	Year
1	De novo partial trisomy distal 4q: a case report. ⁶¹	Gorukmez O...Yakut T	25804022	2014
2	The Hand2 gene dosage effect in developmental defects and human congenital disorders. ⁶¹	Tamura M...Shiroishi T	25248475	2014
3	Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q. ⁶¹	Tamura M...Shiroishi T	23449628	2013
4	A malformed newborn with 9p and 4q trisomy. ⁶¹	Fryns JP...van den Berghe H	6971619	1981

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Genes for Partial Trisomy Distal 4q

Genes related to Partial Trisomy Distal 4q (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	14.39	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
2	RIMS4	Regulating Synaptic Membrane Exocytosis 4	Protein Coding	7.16	DISEASES inferred ¹⁵
3	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	5.63	DISEASES inferred ¹⁵
4	TWIST2	Twist Family BHLH Transcription Factor 2	Protein Coding	5.58	DISEASES inferred ¹⁵
5	TBX3	T-Box Transcription Factor 3	Protein Coding	5.54	DISEASES inferred ¹⁵
6	KCNAB2	Potassium Voltage-Gated Channel Subfamily A Regulatory Beta Subunit 2	Protein Coding	5.1	DISEASES inferred ¹⁵

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Variations for Partial Trisomy Distal 4q

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Expression for Partial Trisomy Distal 4q

Search GEO for disease gene expression data for Partial Trisomy Distal 4q.

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Pathways for Partial Trisomy Distal 4q

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GO Terms for Partial Trisomy Distal 4q

Cellular components related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	8.92	TWIST2 TBX3 NIPBL HAND2

Biological processes related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	9.83	TWIST2 TBX3 NIPBL HAND2
2	negative regulation of transcription, DNA-templated	GO:0045892	9.71	TWIST2 TBX3 NIPBL
3	negative regulation of apoptotic process	GO:0043066	9.69	TWIST2 TBX3 HAND2
4	multicellular organism development	GO:0007275	9.62	TWIST2 TBX3 NIPBL HAND2
5	roof of mouth development	GO:0060021	9.49	TBX3 HAND2
6	heart looping	GO:0001947	9.48	TBX3 HAND2
7	negative regulation of osteoblast differentiation	GO:0045668	9.46	TWIST2 HAND2
8	embryonic digit morphogenesis	GO:0042733	9.43	TBX3 HAND2
9	stem cell population maintenance	GO:0019827	9.4	TBX3 NIPBL
10	outflow tract morphogenesis	GO:0003151	9.37	TBX3 NIPBL
11	developmental process	GO:0032502	9.26	TWIST2 HAND2
12	embryonic forelimb morphogenesis	GO:0035115	9.16	TBX3 NIPBL
13	forelimb morphogenesis	GO:0035136	8.96	TBX3 NIPBL
14	heart morphogenesis	GO:0003007	8.8	TBX3 NIPBL HAND2

Molecular functions related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel binding	GO:0044325	8.62	RIMS4 KCNAB2

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Sources for Partial Trisomy Distal 4q

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