MCID: CHR390
MIFTS: 23

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 58 12 30 13 15 74
14q11.2 Microdeletion Syndrome 12 60
Monosomy 14q11.2 60
Del(14)(q11.2) 60

Characteristics:

Orphanet epidemiological data:

60
14q11.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
variable features


HPO:

33
chromosome 14q11-q22 deletion syndrome:
Inheritance sporadic


Classifications:



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, is also known as 14q11.2 microdeletion syndrome, 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). Affiliated tissues include eye, and related phenotypes are hypertelorism and depressed nasal bridge

Description from OMIM: 613457

Related Diseases for Chromosome 14q11-Q22 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 14q11-Q22 Deletion Syndrome

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

60 33 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
3 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
4 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
5 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
6 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
7 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
8 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
9 exaggerated cupid's bow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002263
10 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
11 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
12 patent ductus arteriosus 60 33 occasional (7.5%) Frequent (79-30%) HP:0001643
13 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
14 toe clinodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001863
15 melanocytic nevus 60 33 frequent (33%) Frequent (79-30%) HP:0000995
16 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
17 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
18 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
19 ventricular septal defect 60 33 occasional (7.5%) Frequent (79-30%) HP:0001629
20 deep philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0002002
21 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
22 highly arched eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0002553
23 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
24 sparse lateral eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0005338
25 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340
26 patent foramen ovale 33 occasional (7.5%) HP:0001655
27 low-set ears 33 HP:0000369
28 seizures 33 HP:0001250
29 spasticity 33 HP:0001257
30 hyperreflexia 33 HP:0001347
31 failure to thrive 33 HP:0001508
32 global developmental delay 33 HP:0001263
33 microcephaly 33 HP:0000252
34 optic atrophy 33 HP:0000648
35 neonatal hypotonia 33 HP:0001319
36 intellectual disability, severe 33 HP:0010864
37 cryptorchidism 33 HP:0000028
38 growth delay 33 HP:0001510
39 inability to walk 33 HP:0002540
40 abnormality of the pinna 33 HP:0000377
41 triangular face 33 HP:0000325
42 plagiocephaly 33 HP:0001357
43 wide nose 33 HP:0000445
44 hypoplasia of the corpus callosum 33 HP:0002079
45 short palpebral fissure 33 HP:0012745
46 poor head control 33 HP:0002421
47 poor eye contact 33 HP:0000817
48 abnormal cns myelination 33 HP:0011400
49 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Chromosome 14q11-Q22 Deletion Syndrome

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

42
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

GO Terms for Chromosome 14q11-Q22 Deletion Syndrome

Sources for Chromosome 14q11-Q22 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....