MCID: CHR390
MIFTS: 36

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 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:

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 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

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:



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 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

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, Brain, Thyroid

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
21744488 2011
2
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. 57
19733229 2009
3
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. 57
17545556 2007
4
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. 57
11477612 2001
5
Abnormal myelination in a patient with deletion 14q11.2q13.1. 57
11020645 2000
6
Another patient with a deletion 14q11.2q13. 57
9037346 1996
7
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. 57
7977460 1994
8
First case of deletion 14q11.2q13: clinical phenotype. 57
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
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
31890031 2019
11
Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis. 61
30012655 2018
12
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 10.45 NFKBIA CD8A
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 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

Sources for Chromosome 14q11-Q22 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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