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

MCID: CHR390 MIFTS: 35	Chromosome 14q11-Q22 Deletion Syndrome Categories: Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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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 ⁷³

14q11.2 Microdeletion Syndrome ¹² ⁵⁹

Monosomy 14q11.2 ⁵⁹

Del(14)(q11.2) ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
variable features

HPO:

³²

chromosome 14q11-q22 deletion syndrome:
Inheritance sporadic

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 613457

Disease Ontology ¹² DOID:0060392

Orphanet ⁵⁹ ORPHA261120

ICD10 via Orphanet ³⁴ Q93.5

MedGen ⁴² C3150707

SNOMED-CT via HPO ⁶⁹ 204878001 14582003 27272007 more

UMLS ⁷³ C3150707

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Summaries for Chromosome 14q11-Q22 Deletion Syndrome

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 high palate

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	9.9	HRAS NKX2-1
2	malignant struma ovarii	9.9	HRAS NKX2-1
3	fetal adenoma	9.9	HRAS NKX2-1
4	lung benign neoplasm	9.9	HRAS NKX2-1
5	multinodular goiter	9.8	HRAS NKX2-1
6	respiratory system cancer	9.8	HRAS NKX2-1
7	differentiated thyroid carcinoma	9.8	HRAS NKX2-1
8	respiratory system disease	9.8	HRAS NKX2-1
9	thymoma	9.8	HRAS NKX2-1
10	thyroid cancer, nonmedullary, 2	9.7	HRAS NKX2-1

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

⁵⁹ ³² (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	high palate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000218
3	depressed nasal bridge ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005280
4	short nose ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003196
5	intellectual disability, mild ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001256
6	long philtrum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000343
7	micrognathia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000347
8	patent ductus arteriosus ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0001643
9	epicanthus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000286
10	severe global developmental delay ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011344
11	toe clinodactyly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001863
12	everted lower lip vermilion ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000232
13	melanocytic nevus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000995
14	broad forehead ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000337
15	deeply set eye ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000490
16	low-set, posteriorly rotated ears ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000368
17	narrow mouth ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000160
18	ventricular septal defect ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0001629
19	deep philtrum ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002002
20	blepharophimosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000581
21	highly arched eyebrow ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002553
22	toe syndactyly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001770
23	sparse lateral eyebrow ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005338
24	sloping forehead ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000340
25	exaggerated cupid's bow ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002263
26	low-set ears ³²			HP:0000369
27	seizures ³²			HP:0001250
28	spasticity ³²			HP:0001257
29	hyperreflexia ³²			HP:0001347
30	failure to thrive ³²			HP:0001508
31	global developmental delay ³²			HP:0001263
32	microcephaly ³²			HP:0000252
33	optic atrophy ³²			HP:0000648
34	neonatal hypotonia ³²			HP:0001319
35	intellectual disability, severe ³²			HP:0010864
36	cryptorchidism ³²			HP:0000028
37	growth delay ³²			HP:0001510
38	inability to walk ³²			HP:0002540
39	abnormality of the pinna ³²			HP:0000377
40	triangular face ³²			HP:0000325
41	plagiocephaly ³²			HP:0001357
42	wide nose ³²			HP:0000445
43	hypoplasia of the corpus callosum ³²			HP:0002079
44	short palpebral fissure ³²			HP:0012745
45	poor head control ³²			HP:0002421
46	patent foramen ovale ³²	occasional (7.5%)		HP:0001655
47	poor eye contact ³²			HP:0000817
48	abnormal cns myelination ³²			HP:0011400
49	cerebral visual impairment ³²			HP:0100704

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	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 ²⁹

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Anatomical Context for Chromosome 14q11-Q22 Deletion Syndrome

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

⁴¹

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 ⁵⁷ 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	15.02	DISEASES inferred ¹⁵
4	NKX2-1	NK2 Homeobox 1	Protein Coding	14.98	DISEASES inferred ¹⁵
5	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	13.61	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 ³⁷ 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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia