MCID: CHR390
MIFTS: 39

Chromosome 14q11-Q22 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

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:

Orphanet: 58  
Developmental anomalies during embryogenesis


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

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:



Diseases related to Chromosome 14q11-Q22 Deletion Syndrome

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

Drugs & Therapeutics for Chromosome 14q11-Q22 Deletion Syndrome

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

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

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

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
21744488 2011
2
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. 56
19733229 2009
3
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. 56
17545556 2007
4
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. 56
11477612 2001
5
Abnormal myelination in a patient with deletion 14q11.2q13.1. 56
11020645 2000
6
Another patient with a deletion 14q11.2q13. 56
9037346 1996
7
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. 56
7977460 1994
8
First case of deletion 14q11.2q13: clinical phenotype. 56
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
31890031 2019
10
Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis. 61
30012655 2018
11
14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype. 61
27148860 2016

Variations for Chromosome 14q11-Q22 Deletion Syndrome

Expression for Chromosome 14q11-Q22 Deletion Syndrome

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

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
Show member pathways
11.87 HRAS CD8A CD4
2 10.54 CD8A CD4
3 9.58 NKX2-1 FOXG1

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

Sources for Chromosome 14q11-Q22 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....