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

MCID: CHR390 MIFTS: 36	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 ⁵⁷ 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®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 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 fungal meningitis and diaphragmatic hernia, congenital, 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 and Co-stimulatory Signaling and Tgif disruption of Shh signaling. Affiliated tissues include eye, brain and thyroid, and related phenotypes are depressed nasal bridge and hypertelorism

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:

#	Related Disease	Score	Top Affiliating Genes
1	fungal meningitis	9.9	PIGW CD8A
2	diaphragmatic hernia, congenital	9.8	PIGW NKX2-1 GATA4
3	gene duplication disease	9.8	FOXG1 FMR1
4	thymus cancer	9.7	NKX2-1 CD8A
5	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	9.7	PAX9 NFKBIA CD8A
6	pitt-hopkins-like syndrome 1	9.7	FMR1 CNTN4
7	pervasive developmental disorder	9.7	FOXG1 FMR1 CNTN4
8	x-linked monogenic disease	9.5	OCRL FMR1 CD8A
9	disease of mental health	8.4	OCRL NKX2-1 NFKBIA GATA4 FOXG1 FMR1

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
hypertonia
hypoplasia of the corpus callosum
more

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

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

Head And Neck Face:
micrognathia
long philtrum
triangular face

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

Cardiovascular Vascular:
patent ductus arteriosus (2 patients)

Growth Other:
failure to thrive
poor growth

Head And Neck Head:
microcephaly
plagiocephaly
poor head control

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
malformed auricles

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

Clinical features from OMIM®:

613457 (Updated 05-Mar-2021)

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

seizures, muscle spasticity

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.76	BAZ1A CD8A FMR1 FOXG1 GATA4 NFKBIA
2	normal	MP:0002873	9.5	CD8A FOXG1 GATA4 NFKBIA NKX2-1 OCRL
3	reproductive system	MP:0005389	9.17	BAZ1A FMR1 GATA4 LMX1A NKX2-1 OCRL

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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, Brain, Thyroid

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Publications for Chromosome 14q11-Q22 Deletion Syndrome

Articles related to Chromosome 14q11-Q22 Deletion Syndrome:

(show all 12)

#	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. ⁵⁷	Torgyekes E...Levy B	21744488	2011
2	TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. ⁵⁷	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. ⁵⁷	Zahir F...Friedman JM	17545556	2007
4	Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. ⁵⁷	Kamnasaran D...Cox DW	11477612	2001
5	Abnormal myelination in a patient with deletion 14q11.2q13.1. ⁵⁷	Ramelli GP...Moser H	11020645	2000
6	Another patient with a deletion 14q11.2q13. ⁵⁷	Govaerts L...Smeets D	9037346	1996
7	De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. ⁵⁷	Shapira SK...Shaffer LG	7977460	1994
8	First case of deletion 14q11.2q13: clinical phenotype. ⁵⁷	Grammatico P...del Porto G	8010711	1994
9	14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies. ⁶¹	Ponzi E...Margari L	32415730	2020
10	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
11	Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis. ⁶¹	Liu Y...Gold JA	30012655	2018
12	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):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DEL14Q11Q22	Chromosome 14q11-Q22 Deletion Syndrome	Genetic Locus	508.95	Structural variation ⁵⁷ GeneCards inferred via : Gene name (show sections)
2	PAX9	Paired Box 9	Protein Coding	6.99	DISEASES inferred ¹⁵
3	FOXG1	Forkhead Box G1	Protein Coding	6.77	DISEASES inferred ¹⁵
4	SNX6	Sorting Nexin 6	Protein Coding	6.75	DISEASES inferred ¹⁵
5	BAZ1A	Bromodomain Adjacent To Zinc Finger Domain 1A	Protein Coding	6.41	DISEASES inferred ¹⁵
6	CNTN4	Contactin 4	Protein Coding	6.2	DISEASES inferred ¹⁵
7	NKX2-1	NK2 Homeobox 1	Protein Coding	6.12	DISEASES inferred ¹⁵
8	OCRL	OCRL Inositol Polyphosphate-5-Phosphatase	Protein Coding	5.81	DISEASES inferred ¹⁵
9	PIGW	Phosphatidylinositol Glycan Anchor Biosynthesis Class W	Protein Coding	5.45	DISEASES inferred ¹⁵
10	GATA4	GATA Binding Protein 4	Protein Coding	4.93	DISEASES inferred ¹⁵
11	LMX1A	LIM Homeobox Transcription Factor 1 Alpha	Protein Coding	4.7	DISEASES inferred ¹⁵
12	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	4.31	DISEASES inferred ¹⁵
13	FMR1	FMRP Translational Regulator 1	Protein Coding	3.37	DISEASES inferred ¹⁵
14	CD8A	CD8a Molecule	Protein Coding	3.34	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 and Co-stimulatory Signaling ¹	10.45	NFKBIA CD8A
2	Tgif disruption of Shh signaling ¹	9.58	NKX2-1 FOXG1

Sources

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	regulation of transcription by RNA polymerase II	GO:0006357	9.73	PAX9 NKX2-1 LMX1A GATA4 FOXG1 BAZ1A
2	positive regulation of transcription by RNA polymerase II	GO:0045944	9.72	PAX9 NKX2-1 NFKBIA LMX1A GATA4
3	negative regulation of transcription, DNA-templated	GO:0045892	9.71	SNX6 PAX9 NKX2-1 FOXG1
4	axon guidance	GO:0007411	9.54	NKX2-1 LMX1A CNTN4
5	brain development	GO:0007420	9.46	NKX2-1 LMX1A FOXG1 CNTN4
6	negative regulation of neuron differentiation	GO:0045665	9.13	LMX1A FOXG1 CNTN4
7	endoderm development	GO:0007492	8.8	PAX9 NKX2-1 GATA4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific double-stranded DNA binding	GO:1990837	9.26	PAX9 LMX1A GATA4 FOXG1
2	RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	8.92	PAX9 NKX2-1 LMX1A GATA4

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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 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