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 59
Monosomy 15q14 59
Del(15)(q14) 59

Characteristics:

Orphanet epidemiological data:

59
15q14 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
contiguous gene deletion syndrome


HPO:

32
chromosome 15q14 deletion syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



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 related phenotypes are inguinal hernia and abnormality of the dentition

Description from OMIM: 616898

Related Diseases for Chromosome 15q14 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q14 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

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 Mouth:
cleft palate
cleft lip
everted lower lip
tented upper lip

Head And Neck Face:
short philtrum
high forehead

Head And Neck Eyes:
arched eyebrows


Clinical features from OMIM:

616898

Human phenotypes related to Chromosome 15q14 Deletion Syndrome:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
2 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
3 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
4 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
5 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
6 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
7 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
8 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
9 narrow forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000341
10 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
11 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
12 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
13 convex nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000444
14 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
15 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
16 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
17 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
18 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
20 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
21 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
22 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
23 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002721
24 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
25 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
26 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
27 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
28 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
29 everted lower lip vermilion 32 HP:0000232
30 high forehead 32 HP:0000348
31 posteriorly rotated ears 32 HP:0000358
32 highly arched eyebrow 32 HP:0002553
33 tented upper lip vermilion 32 HP:0010804
34 cleft lip 32 HP:0410030

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:

41
Eye

Publications for Chromosome 15q14 Deletion Syndrome

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 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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