MCID: CHR612
MIFTS: 19

Chromosome 15q14 Deletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 15q14 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q14 Deletion Syndrome:

Name: Chromosome 15q14 Deletion Syndrome 57
15q14 Microdeletion Syndrome 58
Monosomy 15q14 58
Del(15)(q14) 58

Characteristics:

Orphanet epidemiological data:

58
15q14 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
contiguous gene deletion syndrome


HPO:

31
chromosome 15q14 deletion syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 15q14 Deletion Syndrome

MalaCards based summary : Chromosome 15q14 Deletion Syndrome, is also known as 15q14 microdeletion syndrome. An important gene associated with Chromosome 15q14 Deletion Syndrome is DEL15Q14 (Chromosome 15q14 Deletion Syndrome). Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 616898

Related Diseases for Chromosome 15q14 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q14 Deletion Syndrome

Human phenotypes related to Chromosome 15q14 Deletion Syndrome:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
8 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
9 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
10 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
11 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
12 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
15 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
16 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
17 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
18 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061
19 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
20 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
21 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
22 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
23 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
24 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
25 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
26 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
27 convex nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000444
28 seizure 31 occasional (7.5%) HP:0001250
29 seizures 58 Occasional (29-5%)
30 everted lower lip vermilion 31 HP:0000232
31 highly arched eyebrow 31 HP:0002553
32 high forehead 31 HP:0000348
33 tented upper lip vermilion 31 HP:0010804
34 posteriorly rotated ears 31 HP:0000358
35 cleft lip 31 HP:0410030

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
cleft lip
everted lower lip
tented upper lip

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Neurologic Central Nervous System:
delayed psychomotor development
intellectual disability, variable

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Face:
short philtrum
high forehead

Head And Neck Eyes:
arched eyebrows

Clinical features from OMIM®:

616898 (Updated 05-Apr-2021)

Drugs & Therapeutics for Chromosome 15q14 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q14 Deletion Syndrome

Genetic Tests for Chromosome 15q14 Deletion Syndrome

Anatomical Context for Chromosome 15q14 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 15q14 Deletion Syndrome:

40
Eye, Heart

Publications for Chromosome 15q14 Deletion Syndrome

Articles related to Chromosome 15q14 Deletion Syndrome:

# Title Authors PMID Year
1
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. 57
26561393 2016
2
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. 57
24678003 2014
3
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. 57
17163532 2007

Variations for Chromosome 15q14 Deletion Syndrome

Expression for Chromosome 15q14 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q14 Deletion Syndrome.

Pathways for Chromosome 15q14 Deletion Syndrome

GO Terms for Chromosome 15q14 Deletion Syndrome

Sources for Chromosome 15q14 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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