Chromosome 19q13.11 Deletion Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR219 MIFTS: 26	Chromosome 19q13.11 Deletion Syndrome Categories: Genetic diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Chromosome 19q13.11 Deletion Syndrome

MalaCards integrated aliases for Chromosome 19q13.11 Deletion Syndrome:

Name: Chromosome 19q13.11 Deletion Syndrome ¹² ²⁰ ²⁹ ⁶ ⁴⁴ ¹⁵ ⁷¹

19q13.11 Microdeletion Syndrome ¹²

Monosomy 19q13.11 ¹²

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060408

MeSH ⁴⁴ C567810

UMLS ⁷¹ C2751651

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Summaries for Chromosome 19q13.11 Deletion Syndrome

GARD : ²⁰ Chromosome 19q13.11 deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities. To date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 19q13.11 Deletion Syndrome, also known as 19q13.11 microdeletion syndrome, is related to chromosome 19q13.11 deletion syndrome, distal and chromosome 19q13.11 deletion syndrome, proximal. An important gene associated with Chromosome 19q13.11 Deletion Syndrome is UBA2 (Ubiquitin Like Modifier Activating Enzyme 2), and among its related pathways/superpathways is Herpes simplex virus 1 infection. Related phenotypes are intellectual disability and failure to thrive

Disease Ontology : ¹² A chromosomal deletion syndrome that has material basis in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.

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Related Diseases for Chromosome 19q13.11 Deletion Syndrome

Diseases related to Chromosome 19q13.11 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	chromosome 19q13.11 deletion syndrome, distal	32.3	UBA2 DEL19Q13.11
2	chromosome 19q13.11 deletion syndrome, proximal	11.6
3	gm1-gangliosidosis, type iii	9.7	ZNF302 ZNF181
4	tethered spinal cord syndrome	9.6	ZNF599 ZNF181
5	prolidase deficiency	9.3	ZNF599 ZNF30 ZNF181
6	brugada syndrome 5	9.1	ZNF599 ZNF302 ZNF30 ZNF181

Graphical network of the top 20 diseases related to Chromosome 19q13.11 Deletion Syndrome:

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Symptoms & Phenotypes for Chromosome 19q13.11 Deletion Syndrome

Human phenotypes related to Chromosome 19q13.11 Deletion Syndrome:

³¹ (show all 38)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	hallmark (90%)	HP:0001249
2	failure to thrive ³¹	hallmark (90%)	HP:0001508
3	delayed speech and language development ³¹	hallmark (90%)	HP:0000750
4	microcephaly ³¹	hallmark (90%)	HP:0000252
5	intrauterine growth retardation ³¹	hallmark (90%)	HP:0001511
6	cachexia ³¹	hallmark (90%)	HP:0004326
7	clinodactyly of the 5th finger ³¹	hallmark (90%)	HP:0004209
8	hypospadias ³¹	hallmark (90%)	HP:0000047
9	feeding difficulties ³¹	hallmark (90%)	HP:0011968
10	aplasia cutis congenita ³¹	hallmark (90%)	HP:0001057
11	recurrent respiratory infections ³¹	frequent (33%)	HP:0002205
12	cryptorchidism ³¹	frequent (33%)	HP:0000028
13	dry skin ³¹	frequent (33%)	HP:0000958
14	wide intermamillary distance ³¹	frequent (33%)	HP:0006610
15	retrognathia ³¹	frequent (33%)	HP:0000278
16	long face ³¹	frequent (33%)	HP:0000276
17	fine hair ³¹	frequent (33%)	HP:0002213
18	high forehead ³¹	frequent (33%)	HP:0000348
19	finger syndactyly ³¹	frequent (33%)	HP:0006101
20	thin vermilion border ³¹	frequent (33%)	HP:0000233
21	toe syndactyly ³¹	frequent (33%)	HP:0001770
22	toe clinodactyly ³¹	frequent (33%)	HP:0001863
23	underdeveloped nasal alae ³¹	frequent (33%)	HP:0000430
24	sparse lateral eyebrow ³¹	frequent (33%)	HP:0005338
25	nail dysplasia ³¹	frequent (33%)	HP:0002164
26	sparse hair ³¹	frequent (33%)	HP:0008070
27	supernumerary nipple ³¹	frequent (33%)	HP:0002558
28	broad columella ³¹	frequent (33%)	HP:0010761
29	sparse or absent eyelashes ³¹	frequent (33%)	HP:0200102
30	thin skin ³¹	frequent (33%)	HP:0000963
31	hearing impairment ³¹	occasional (7.5%)	HP:0000365
32	cataract ³¹	occasional (7.5%)	HP:0000518
33	congenital hip dislocation ³¹	occasional (7.5%)	HP:0001374
34	wide mouth ³¹	occasional (7.5%)	HP:0000154
35	bifid scrotum ³¹	occasional (7.5%)	HP:0000048
36	ventricular septal defect ³¹	occasional (7.5%)	HP:0001629
37	microcornea ³¹	occasional (7.5%)	HP:0000482
38	single median maxillary incisor ³¹	occasional (7.5%)	HP:0006315

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Drugs & Therapeutics for Chromosome 19q13.11 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 19q13.11 Deletion Syndrome

Cochrane evidence based reviews: chromosome 19q13.11 deletion syndrome

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Genetic Tests for Chromosome 19q13.11 Deletion Syndrome

Genetic tests related to Chromosome 19q13.11 Deletion Syndrome:

#	Genetic test	Affiliating Genes
1	Chromosome 19q13.11 Deletion Syndrome ²⁹

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Anatomical Context for Chromosome 19q13.11 Deletion Syndrome

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Publications for Chromosome 19q13.11 Deletion Syndrome

Articles related to Chromosome 19q13.11 Deletion Syndrome:

#	Title	Authors	PMID	Year
1	Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. ⁶¹	Urquhart JE...Newman WG	26377242	2015
2	19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype. ⁶¹	Venegas-Vega C...Fernandez-Ramirez F	25516771	2014
3	Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. ⁶¹	Chowdhury S...Rosenfeld JA	24243649	2014
4	Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. ⁶¹	Schuurs-Hoeijmakers JH...de Vries BB	19487540	2009

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Genes for Chromosome 19q13.11 Deletion Syndrome

Genes related to Chromosome 19q13.11 Deletion Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	UBA2	Ubiquitin Like Modifier Activating Enzyme 2	Protein Coding	414.63	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	LINC00904	Long Intergenic Non-Protein Coding RNA 904	RNA Gene	8.67	DISEASES inferred ¹⁵
3	DEL19Q13.11	Chromosome 19q13.11 Deletion Syndrome	Genetic Locus	8.64	GeneCards inferred via : Gene name (show sections)
4	DEL19Q13.11P	Chromosome 19q13.11 Deletion Syndrome, Proximal	Genetic Locus	8.64	GeneCards inferred via : Gene name (show sections)
5	ZNF181	Zinc Finger Protein 181	Protein Coding	8.53	DISEASES inferred ¹⁵
6	ZNF599	Zinc Finger Protein 599	Protein Coding	8.5	DISEASES inferred ¹⁵
7	ZNF30	Zinc Finger Protein 30	Protein Coding	8.45	DISEASES inferred ¹⁵
8	ZNF302	Zinc Finger Protein 302	Protein Coding	8.34	DISEASES inferred ¹⁵

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Variations for Chromosome 19q13.11 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 19q13.11 Deletion Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	UBA2	NM_005499.3(UBA2):c.800T>A (p.Leu267Ter)	SNV	Pathogenic	977797		19:34941198-34941198	19:34450293-34450293

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Expression for Chromosome 19q13.11 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 19q13.11 Deletion Syndrome.

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Pathways for Chromosome 19q13.11 Deletion Syndrome

Pathways related to Chromosome 19q13.11 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Herpes simplex virus 1 infection ³⁶	11.62	ZNF599 ZNF302 ZNF30 ZNF181

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GO Terms for Chromosome 19q13.11 Deletion Syndrome

Biological processes related to Chromosome 19q13.11 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	9.26	ZNF599 ZNF302 ZNF30 ZNF181
2	regulation of transcription, DNA-templated	GO:0006355	8.92	ZNF599 ZNF302 ZNF30 ZNF181

Molecular functions related to Chromosome 19q13.11 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.26	ZNF599 ZNF302 ZNF30 ZNF181
2	nucleic acid binding	GO:0003676	8.92	ZNF599 ZNF302 ZNF30 ZNF181

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Sources for Chromosome 19q13.11 Deletion Syndrome

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

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¹⁶ DrugBank

¹⁷ EFO

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

²⁹ GTR

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