MCID: CHR390
MIFTS: 33

Chromosome 14q11-Q22 Deletion Syndrome

Categories: Fetal diseases, Rare diseases, Genetic 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 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:



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 malignant struma ovarii and lung adenoid cystic carcinoma, and has symptoms including muscle spasticity and seizures. 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 related phenotypes are hypertelorism and high palate

Description 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 9.8 HRAS NKX2-1
2 lung adenoid cystic carcinoma 9.8 HRAS NKX2-1
3 lung benign neoplasm 9.8 HRAS NKX2-1
4 multinodular goiter 9.8 HRAS NKX2-1
5 respiratory system cancer 9.7 HRAS NKX2-1
6 differentiated thyroid carcinoma 9.7 HRAS NKX2-1
7 cell type cancer 9.6 HRAS NKX2-1
8 thymoma 9.5 HRAS NKX2-1
9 thyroid cancer, nonmedullary, 2 9.2 HRAS NKX2-1
10 trehalase deficiency 8.3 FOXG1 HRAS NKX2-1 PAX9

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

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
GenitourinaryInternal GenitaliaMale:
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 cortical visual impairment 32 HP:0100704
48 poor eye contact 32 HP:0000817
49 abnormal cns myelination 32 HP:0011400

UMLS symptoms related to Chromosome 14q11-Q22 Deletion Syndrome:


muscle spasticity, seizures

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

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

Publications for Chromosome 14q11-Q22 Deletion Syndrome

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
11.1 FOXG1 HRAS
2 9.58 FOXG1 NKX2-1

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 9.43 FOXG1 NKX2-1 PAX9
2 axon guidance GO:0007411 9.32 HRAS NKX2-1
3 forebrain development GO:0030900 9.16 FOXG1 NKX2-1
4 endoderm development GO:0007492 8.96 NKX2-1 PAX9
5 animal organ morphogenesis GO:0009887 8.8 HRAS NKX2-1 PAX9

Sources for Chromosome 14q11-Q22 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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