Chromosome 14q11-Q22 Deletion Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR390 MIFTS: 39	Chromosome 14q11-Q22 Deletion Syndrome Categories: Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Chromosome 14q11-Q22 Deletion Syndrome

MalaCards integrated aliases for Chromosome 14q11-Q22 Deletion Syndrome:

Name: Chromosome 14q11-Q22 Deletion Syndrome ⁵⁶ ¹² ²⁹ ¹³ ¹⁵ ⁷¹

14q11.2 Microdeletion Syndrome ¹² ⁵⁸

Monosomy 14q11.2 ⁵⁸

Del(14)(q11.2) ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

14q11.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
variable features

HPO:

³¹

chromosome 14q11-q22 deletion syndrome:
Inheritance sporadic

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

Monosomies and deletions from the autosomes, not elsewhere classified

Other deletions of part of a chromosome

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060392

OMIM ⁵⁶ 613457

ICD10 via Orphanet ³³ Q93.5

Orphanet ⁵⁸ ORPHA261120

MedGen ⁴¹ C3150707

UMLS ⁷¹ C3150707

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Summaries for Chromosome 14q11-Q22 Deletion Syndrome

Disease Ontology : ¹² A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has material basis in isolated cases of partial deletion of the long arm of chromosome 14.

MalaCards based summary : Chromosome 14q11-Q22 Deletion Syndrome, also known as 14q11.2 microdeletion syndrome, is related to third ventricle chordoid glioma and mucinous lung adenocarcinoma, and has symptoms including seizures and muscle spasticity. An important gene associated with Chromosome 14q11-Q22 Deletion Syndrome is DEL14Q11Q22 (Chromosome 14q11-Q22 Deletion Syndrome), and among its related pathways/superpathways are T cell receptor signaling pathway and Primary immunodeficiency. Affiliated tissues include eye, lung and thyroid, and related phenotypes are hypertelorism and depressed nasal bridge

More information from OMIM: 613457

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Related Diseases for Chromosome 14q11-Q22 Deletion Syndrome

Diseases related to Chromosome 14q11-Q22 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 184)

#	Related Disease	Score	Top Affiliating Genes
1	third ventricle chordoid glioma	10.2	NKX2-1 CD4
2	mucinous lung adenocarcinoma	10.1	NKX2-1 HRAS
3	in situ pulmonary adenocarcinoma	10.1	NKX2-1 HRAS
4	benign struma ovarii	10.1	NKX2-1 HRAS
5	papillary adenoma	10.1	NKX2-1 HRAS
6	respiratory system benign neoplasm	10.0	NKX2-1 HRAS
7	thyroid gland follicular carcinoma	10.0	NKX2-1 HRAS
8	autoimmune pancreatitis	9.9	HRAS CD4
9	cork-handlers' disease	9.9	CD8A CD4
10	syphilitic meningitis	9.9	CD8A CD4
11	ventilation pneumonitis	9.9	CD8A CD4
12	diffuse infiltrative lymphocytosis syndrome	9.9	CD8A CD4
13	autoimmune lymphoproliferative syndrome, type iia	9.9	CD8A CD4
14	diabetes mellitus, insulin-dependent, 23	9.9	CD8A CD4
15	bird fancier's lung	9.9	CD8A CD4
16	early yaws	9.9	CD8A CD4
17	parapsoriasis	9.9	CD8A CD4
18	norwegian scabies	9.9	CD8A CD4
19	metal allergy	9.9	CD8A CD4
20	variola major	9.9	CD8A CD4
21	follicular mucinosis	9.9	CD8A CD4
22	tertiary syphilis	9.9	CD8A CD4
23	syphilis	9.9	CD8A CD4
24	spongiotic dermatitis	9.9	CD8A CD4
25	acute retinal necrosis syndrome	9.9	CD8A CD4
26	granulomatous hepatitis	9.9	CD8A CD4
27	nickel allergic contact dermatitis	9.9	CD8A CD4
28	combined thymoma	9.9	CD8A CD4
29	west nile encephalitis	9.9	CD8A CD4
30	neurosarcoidosis	9.9	CD8A CD4
31	cd3zeta deficiency	9.9	CD8A CD4
32	immunodeficiency 18	9.9	CD8A CD4
33	cerebritis	9.9	CD8A CD4
34	acute interstitial pneumonia	9.9	CD8A CD4
35	parotid disease	9.9	CD8A CD4
36	superficial basal cell carcinoma	9.9	CD8A CD4
37	secondary syphilis	9.9	CD8A CD4
38	oral tuberculosis	9.9	CD8A CD4
39	oral hairy leukoplakia	9.9	CD8A CD4
40	farmer's lung	9.9	CD8A CD4
41	esophageal candidiasis	9.9	CD8A CD4
42	myeloid and lymphoid neoplasms associated with fgfr1 abnormalities	9.9	CD8A CD4
43	immunodeficiency 19	9.9	CD8A CD4
44	cardiomyopathy, familial hypertrophic, 9	9.9	CD8A CD4
45	pneumonic tularemia	9.9	CD8A CD4
46	tularemia	9.9	CD8A CD4
47	laryngeal tuberculosis	9.9	CD8A CD4
48	blastomycosis	9.9	CD8A CD4
49	differentiated thyroid carcinoma	9.9	NKX2-1 HRAS
50	pneumonic plague	9.9	CD8A CD4

Graphical network of the top 20 diseases related to Chromosome 14q11-Q22 Deletion Syndrome:

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Symptoms & Phenotypes for Chromosome 14q11-Q22 Deletion Syndrome

Human phenotypes related to Chromosome 14q11-Q22 Deletion Syndrome:

⁵⁸ ³¹ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	depressed nasal bridge ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005280
3	short nose ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003196
4	intellectual disability, mild ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001256
5	long philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000343
6	severe global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011344
7	everted lower lip vermilion ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000232
8	low-set, posteriorly rotated ears ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000368
9	exaggerated cupid's bow ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002263
10	high palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000218
11	micrognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000347
12	ventricular septal defect ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0001629
13	sloping forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000340
14	highly arched eyebrow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002553
15	patent ductus arteriosus ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0001643
16	epicanthus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000286
17	toe clinodactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001863
18	narrow mouth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000160
19	melanocytic nevus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000995
20	broad forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000337
21	deeply set eye ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000490
22	deep philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002002
23	blepharophimosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000581
24	toe syndactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001770
25	sparse lateral eyebrow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005338
26	patent foramen ovale ³¹	occasional (7.5%)		HP:0001655
27	low-set ears ³¹			HP:0000369
28	seizures ³¹			HP:0001250
29	spasticity ³¹			HP:0001257
30	hyperreflexia ³¹			HP:0001347
31	failure to thrive ³¹			HP:0001508
32	global developmental delay ³¹			HP:0001263
33	cryptorchidism ³¹			HP:0000028
34	neonatal hypotonia ³¹			HP:0001319
35	microcephaly ³¹			HP:0000252
36	optic atrophy ³¹			HP:0000648
37	intellectual disability, severe ³¹			HP:0010864
38	growth delay ³¹			HP:0001510
39	inability to walk ³¹			HP:0002540
40	abnormality of the pinna ³¹			HP:0000377
41	wide nose ³¹			HP:0000445
42	hypoplasia of the corpus callosum ³¹			HP:0002079
43	triangular face ³¹			HP:0000325
44	plagiocephaly ³¹			HP:0001357
45	poor eye contact ³¹			HP:0000817
46	poor head control ³¹			HP:0002421
47	short palpebral fissure ³¹			HP:0012745
48	cerebral visual impairment ³¹			HP:0100704
49	abnormal cns myelination ³¹			HP:0011400

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Ears:
low-set ears
malformed auricles

Growth Other:
failure to thrive
poor growth

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly
plagiocephaly
poor head control

Head And Neck Mouth:
high-arched palate
small mouth
cupid's bow

Cardiovascular Vascular:
patent ductus arteriosus (2 patients)

Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
hypertonia
inability to walk
more

Head And Neck Nose:
short nose
broad nose
flat nasal bridge

Head And Neck Face:
micrognathia
long philtrum
triangular face

Head And Neck Eyes:
optic atrophy
poor eye contact
epicanthal folds
deep-set eyes
short palpebral fissures
more

Cardiovascular Heart:
ventricular septal defect (1 patient)
patent foramen ovale (1 patient)

Clinical features from OMIM:

613457

UMLS symptoms related to Chromosome 14q11-Q22 Deletion Syndrome:

seizures, muscle spasticity

MGI Mouse Phenotypes related to Chromosome 14q11-Q22 Deletion Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	9.55	CD4 FOXG1 HRAS NKX2-1 PAX9
2	endocrine/exocrine gland	MP:0005379	9.43	CD4 CD8A FOXG1 HRAS NKX2-1 PAX9
3	normal	MP:0002873	9.1	CD4 CD8A FOXG1 HRAS NKX2-1 PAX9

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Drugs & Therapeutics for Chromosome 14q11-Q22 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 14q11-Q22 Deletion Syndrome

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Genetic Tests for Chromosome 14q11-Q22 Deletion Syndrome

Genetic tests related to Chromosome 14q11-Q22 Deletion Syndrome:

#	Genetic test	Affiliating Genes
1	Chromosome 14q11-Q22 Deletion Syndrome ²⁹

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Anatomical Context for Chromosome 14q11-Q22 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 14q11-Q22 Deletion Syndrome:

⁴⁰

Eye, Lung, Thyroid, T Cells, Thymus, B Cells, Brain

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Publications for Chromosome 14q11-Q22 Deletion Syndrome

Articles related to Chromosome 14q11-Q22 Deletion Syndrome:

(show all 11)

#	Title	Authors	PMID	Year
1	The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature. ⁵⁶	Torgyekes E...Levy B	21744488	2011
2	TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. ⁵⁶	Shimojima K...Yamamoto T	19733229	2009
3	Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. ⁵⁶	Zahir F...Friedman JM	17545556	2007
4	Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. ⁵⁶	Kamnasaran D...Cox DW	11477612	2001
5	Abnormal myelination in a patient with deletion 14q11.2q13.1. ⁵⁶	Ramelli GP...Moser H	11020645	2000
6	Another patient with a deletion 14q11.2q13. ⁵⁶	Govaerts L...Smeets D	9037346	1996
7	De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. ⁵⁶	Shapira SK...Shaffer LG	7977460	1994
8	First case of deletion 14q11.2q13: clinical phenotype. ⁵⁶	Grammatico P...del Porto G	8010711	1994
9	A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. ⁶¹	Hu X...Hao C	31890031	2019
10	Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis. ⁶¹	Liu Y...Gold JA	30012655	2018
11	14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype. ⁶¹	Gentile M...Laforgia N	27148860	2016

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Genes for Chromosome 14q11-Q22 Deletion Syndrome

Genes related to Chromosome 14q11-Q22 Deletion Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DEL14Q11Q22	Chromosome 14q11-Q22 Deletion Syndrome	Genetic Locus	508.87	Structural variation ⁵⁶ GeneCards inferred via : Gene name (show sections)
2	FOXG1	Forkhead Box G1	Protein Coding	6.07	DISEASES inferred ¹⁵
3	NKX2-1	NK2 Homeobox 1	Protein Coding	5.43	DISEASES inferred ¹⁵
4	PAX9	Paired Box 9	Protein Coding	5.32	DISEASES inferred ¹⁵
5	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	4.22	DISEASES inferred ¹⁵
6	CD8A	CD8a Molecule	Protein Coding	4.02	DISEASES inferred ¹⁵
7	CD4	CD4 Molecule	Protein Coding	3.82	DISEASES inferred ¹⁵

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Variations for Chromosome 14q11-Q22 Deletion Syndrome

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Expression for Chromosome 14q11-Q22 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 14q11-Q22 Deletion Syndrome.

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Pathways for Chromosome 14q11-Q22 Deletion Syndrome

Pathways related to Chromosome 14q11-Q22 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	11.87	HRAS CD8A CD4
2	Primary immunodeficiency ³⁶	10.54	CD8A CD4
3	Tgif disruption of Shh signaling ¹	9.58	NKX2-1 FOXG1

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GO Terms for Chromosome 14q11-Q22 Deletion Syndrome

Biological processes related to Chromosome 14q11-Q22 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	T cell activation	GO:0042110	9.26	CD8A CD4
2	endoderm development	GO:0007492	9.16	PAX9 NKX2-1
3	cell surface receptor signaling pathway	GO:0007166	9.13	HRAS CD8A CD4
4	animal organ morphogenesis	GO:0009887	8.8	PAX9 NKX2-1 HRAS

Molecular functions related to Chromosome 14q11-Q22 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	coreceptor activity	GO:0015026	8.62	CD8A CD4

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Sources for Chromosome 14q11-Q22 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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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