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

MCID: CHR390 MIFTS: 34	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 ⁵⁸ ¹² ³⁰ ¹³ ¹⁵ ⁷⁴

14q11.2 Microdeletion Syndrome ¹² ⁶⁰

Monosomy 14q11.2 ⁶⁰

Del(14)(q11.2) ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
variable features

HPO:

³³

chromosome 14q11-q22 deletion syndrome:
Inheritance sporadic

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

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: ⁶⁰

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060392

OMIM ⁵⁸ 613457

ICD10 via Orphanet ³⁵ Q93.5

Orphanet ⁶⁰ ORPHA261120

MedGen ⁴³ C3150707

SNOMED-CT via HPO ⁷⁰ 128613002 14582003 194021007 more

UMLS ⁷⁴ 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 lung adenoid cystic carcinoma and malignant struma ovarii, 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 FoxO signaling pathway and Tgif disruption of Shh signaling. Affiliated tissues include eye, lung and thyroid, and related phenotypes are hypertelorism and depressed nasal bridge

Description 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	lung adenoid cystic carcinoma	9.8	HRAS NKX2-1
2	malignant struma ovarii	9.8	HRAS NKX2-1
3	fetal adenoma	9.8	HRAS NKX2-1
4	multinodular goiter	9.8	HRAS NKX2-1
5	lung benign neoplasm	9.8	HRAS NKX2-1
6	respiratory system cancer	9.7	HRAS NKX2-1
7	differentiated thyroid carcinoma	9.7	HRAS NKX2-1
8	respiratory system disease	9.7	HRAS NKX2-1
9	thymoma	9.6	HRAS NKX2-1
10	thyroid cancer, nonmedullary, 2	9.5	HRAS NKX2-1

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

Sources

Symptoms & Phenotypes for Chromosome 14q11-Q22 Deletion Syndrome

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

⁶⁰ ³³ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	depressed nasal bridge ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005280
3	short nose ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003196
4	intellectual disability, mild ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001256
5	long philtrum ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000343
6	severe global developmental delay ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0011344
7	everted lower lip vermilion ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000232
8	low-set, posteriorly rotated ears ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000368
9	exaggerated cupid's bow ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002263
10	high palate ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000218
11	micrognathia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000347
12	patent ductus arteriosus ⁶⁰ ³³	occasional (7.5%)	Frequent (79-30%)	HP:0001643
13	epicanthus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000286
14	toe clinodactyly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001863
15	melanocytic nevus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000995
16	broad forehead ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000337
17	deeply set eye ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000490
18	narrow mouth ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000160
19	ventricular septal defect ⁶⁰ ³³	occasional (7.5%)	Frequent (79-30%)	HP:0001629
20	deep philtrum ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002002
21	blepharophimosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000581
22	highly arched eyebrow ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002553
23	toe syndactyly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001770
24	sparse lateral eyebrow ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005338
25	sloping forehead ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000340
26	patent foramen ovale ³³	occasional (7.5%)		HP:0001655
27	low-set ears ³³			HP:0000369
28	seizures ³³			HP:0001250
29	spasticity ³³			HP:0001257
30	hyperreflexia ³³			HP:0001347
31	failure to thrive ³³			HP:0001508
32	global developmental delay ³³			HP:0001263
33	microcephaly ³³			HP:0000252
34	optic atrophy ³³			HP:0000648
35	neonatal hypotonia ³³			HP:0001319
36	intellectual disability, severe ³³			HP:0010864
37	cryptorchidism ³³			HP:0000028
38	growth delay ³³			HP:0001510
39	inability to walk ³³			HP:0002540
40	abnormality of the pinna ³³			HP:0000377
41	triangular face ³³			HP:0000325
42	plagiocephaly ³³			HP:0001357
43	wide nose ³³			HP:0000445
44	hypoplasia of the corpus callosum ³³			HP:0002079
45	short palpebral fissure ³³			HP:0012745
46	poor head control ³³			HP:0002421
47	cerebral visual impairment ³³			HP:0100704
48	poor eye contact ³³			HP:0000817
49	abnormal cns myelination ³³			HP:0011400

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
low-set ears
malformed auricles

Growth Other:
failure to thrive
poor growth

Head And Neck Head:
microcephaly
plagiocephaly
poor head control

Head And Neck Face:
long philtrum
micrognathia
triangular face

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	9.62	FOXG1 HRAS NKX2-1 PAX9
2	endocrine/exocrine gland	MP:0005379	9.56	FOXG1 HRAS NKX2-1 PAX9
3	normal	MP:0002873	9.46	FOXG1 HRAS NKX2-1 PAX9
4	respiratory system	MP:0005388	9.26	FOXG1 HRAS NKX2-1 PAX9
5	skeleton	MP:0005390	8.92	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 ³⁰

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Anatomical Context for Chromosome 14q11-Q22 Deletion Syndrome

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

⁴²

Eye, Lung, Thyroid

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Publications for Chromosome 14q11-Q22 Deletion Syndrome

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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	508.9	Structural variation ⁵⁸ GeneCards inferred via : Gene name (show sections)
2	FOXG1	Forkhead Box G1	Protein Coding	15.96	DISEASES inferred ¹⁵
3	PAX9	Paired Box 9	Protein Coding	15.03	DISEASES inferred ¹⁵
4	NKX2-1	NK2 Homeobox 1	Protein Coding	14.98	DISEASES inferred ¹⁵
5	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	13.6	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	FoxO signaling pathway ³⁸ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.1	FOXG1 HRAS
2	Tgif disruption of Shh signaling ¹	9.58	FOXG1 NKX2-1

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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	positive regulation of transcription by RNA polymerase II	GO:0045944	9.43	HRAS NKX2-1 PAX9
2	negative regulation of transcription, DNA-templated	GO:0045892	9.33	FOXG1 NKX2-1 PAX9
3	endoderm development	GO:0007492	8.96	NKX2-1 PAX9
4	animal organ morphogenesis	GO:0009887	8.8	HRAS NKX2-1 PAX9

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity	GO:0003700	8.8	FOXG1 NKX2-1 PAX9

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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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia