MCID: CHR390
MIFTS: 33

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 57 12 29 13 15 72
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:



External Ids:

Disease Ontology 12 DOID:0060392
OMIM 57 613457
ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA261120
MedGen 42 C3150707
UMLS 72 C3150707

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 malignant struma ovarii and lung adenoid cystic carcinoma, 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 and brain, 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:

# Related Disease Score Top Affiliating Genes
1 malignant struma ovarii 9.6 NKX2-1 HRAS
2 lung adenoid cystic carcinoma 9.6 NKX2-1 HRAS
3 fetal adenoma 9.6 NKX2-1 HRAS
4 multinodular goiter 9.5 NKX2-1 HRAS
5 lung benign neoplasm 9.5 NKX2-1 HRAS
6 respiratory system cancer 9.5 NKX2-1 HRAS
7 differentiated thyroid carcinoma 9.4 NKX2-1 HRAS
8 respiratory system disease 9.4 NKX2-1 HRAS
9 thymoma 9.3 NKX2-1 HRAS
10 thyroid cancer, nonmedullary, 2 9.1 NKX2-1 HRAS

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:

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

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

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 9.56 FOXG1 HRAS NKX2-1 PAX9
2 endocrine/exocrine gland MP:0005379 9.55 CD8A FOXG1 HRAS NKX2-1 PAX9
3 normal MP:0002873 9.35 CD8A FOXG1 HRAS NKX2-1 PAX9
4 respiratory system MP:0005388 8.92 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:

41
Eye, Brain

Publications for Chromosome 14q11-Q22 Deletion Syndrome

Articles related to Chromosome 14q11-Q22 Deletion Syndrome:

# 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. 8
21744488 2011
2
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. 8
19733229 2009
3
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. 8
17545556 2007
4
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. 8
11477612 2001
5
Abnormal myelination in a patient with deletion 14q11.2q13.1. 8
11020645 2000
6
Another patient with a deletion 14q11.2q13. 8
9037346 1996
7
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. 8
7977460 1994
8
First case of deletion 14q11.2q13: clinical phenotype. 8
8010711 1994
9
Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis. 38
30012655 2018
10
14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype. 38
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
11.09 HRAS FOXG1
2 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 negative regulation of transcription, DNA-templated GO:0045892 9.33 PAX9 NKX2-1 FOXG1
2 endoderm development GO:0007492 8.96 PAX9 NKX2-1
3 animal organ morphogenesis GO:0009887 8.8 PAX9 NKX2-1 HRAS

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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