MCID: CHR492
MIFTS: 39

Chromosome 13q14 Deletion Syndrome

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 13q14 Deletion Syndrome

MalaCards integrated aliases for Chromosome 13q14 Deletion Syndrome:

Name: Chromosome 13q14 Deletion Syndrome 57 12 13 15 71
Chromosome 13q Deletion Syndrome 57 6 71
Chromosome 13q Deletion 20 29 71
Deletion 13q14 12 58
Monosomy 13q14 58
13q Deletion 20
13q Monosomy 20
Deletion 13q 20
Monosomy 13q 20
Del(13)(q14) 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported


HPO:

31
chromosome 13q14 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 13q14 Deletion Syndrome

GARD : 20 Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 13q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 13q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 13. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Chromosome 13q14 Deletion Syndrome, also known as chromosome 13q deletion syndrome, is related to lymphoplasmacytic lymphoma and myeloma, multiple. An important gene associated with Chromosome 13q14 Deletion Syndrome is DEL13Q14 (Chromosome 13q14 Deletion Syndrome), and among its related pathways/superpathways are BRCA1 Pathway and Integrated Cancer Pathway. Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and hypertelorism

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has material basis in deletion of the long arm of chromosome 13.

OMIM® : 57 The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007). (613884) (Updated 05-Mar-2021)

Wikipedia : 74 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm... more...

Related Diseases for Chromosome 13q14 Deletion Syndrome

Diseases related to Chromosome 13q14 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 lymphoplasmacytic lymphoma 29.9 IGHV4-38-2 CD5 CD38
2 myeloma, multiple 29.7 TP53 MIR15A IGHV4-38-2 CD5 CD38 ATM
3 leukemia, acute myeloid 29.4 TP53 MIR432 IGHV4-38-2 CD5 CD38 ATM
4 lymphoma 29.4 TP53 RB1 CD5 CD38 ATM
5 leukemia, chronic lymphocytic 28.7 ZAP70 TP53 MIR15A IGHV4-38-2 CLLU1 CD5
6 autism 3 11.2
7 anal atresia, hypospadias, and penoscrotal inversion 11.1
8 vulvar adenocarcinoma 10.3 TP53 RB1
9 gamma heavy chain disease 10.3 IGHV4-38-2 CD38
10 non-secretory myeloma 10.3 IGHV4-38-2 CD38
11 parotid gland cancer 10.3 TP53 MIR432
12 conjunctival squamous cell carcinoma 10.3 TP53 RB1
13 suppressor of tumorigenicity 3 10.2 TP53 RB1
14 eye lymphoma 10.2 IGHV4-38-2 CD5
15 mental retardation, autosomal dominant 10 10.2 IGHV4-38-2 CD38
16 nasal cavity lymphoma 10.2 IGHV4-38-2 CD5
17 maxillary sinus adenocarcinoma 10.2 TP53 ATM
18 holoprosencephaly 10.2
19 tracheal lymphoma 10.2 IGHV4-38-2 CD5
20 endocrine exophthalmos 10.2 CD5 ATM
21 cervical adenoma malignum 10.1 TP53 ATM
22 leukemia 10.1
23 anemia, autoimmune hemolytic 10.1 ZAP70 IGHV4-38-2 CD5
24 mental retardation, autosomal dominant 33 10.1 IGHV4-38-2 CD38
25 composite lymphoma 10.1 IGHV4-38-2 CD5
26 synchronous bilateral breast carcinoma 10.1 TP53 ATM
27 monoclonal gammopathy of uncertain significance 10.1 TP53 IGHV4-38-2 CD38
28 retinal cancer 10.1 TP53 RB1 ATM
29 partial deletion of the long arm of chromosome 13 10.1
30 plasma protein metabolism disease 10.1 IGHV4-38-2 CD5 CD38
31 b-cell expansion with nfkb and t-cell anergy 10.1 ZAP70 CD5 CD38
32 kabuki syndrome 1 10.0 TP53 IGHV4-38-2 CD38
33 smoldering myeloma 10.0 IGHV4-38-2 CD38
34 anorectal anomalies 10.0
35 gastroesophageal reflux 10.0
36 retinoblastoma 10.0
37 microphthalmia 10.0
38 leukocoria 10.0
39 bilateral retinoblastoma 10.0
40 bone marrow cancer 10.0 TP53 IGHV4-38-2 CD38
41 neural tube defects 10.0
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
43 myelomeningocele 10.0
44 sensorineural hearing loss 10.0
45 heart septal defect 10.0
46 chromosomal triplication 10.0
47 hypotonia 10.0
48 waldenstroem's macroglobulinemia 10.0 ZAP70 IGHV4-38-2 CD5 CD38
49 cornelia de lange syndrome 1 10.0
50 epicanthus 10.0

Graphical network of the top 20 diseases related to Chromosome 13q14 Deletion Syndrome:



Diseases related to Chromosome 13q14 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 13q14 Deletion Syndrome

Human phenotypes related to Chromosome 13q14 Deletion Syndrome:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
8 thickened helices 58 31 hallmark (90%) Very frequent (99-80%) HP:0000391
9 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
10 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
11 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
14 abnormal dermatoglyphics 58 31 frequent (33%) Frequent (79-30%) HP:0007477
15 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
16 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
17 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
18 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
19 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
20 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
21 retinoblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0009919
22 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
23 trigonocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000243
24 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
25 hypotonia 31 frequent (33%) HP:0001252
26 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
27 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
28 abnormality of the gastrointestinal tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0011024
29 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
30 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
31 frontal bossing 31 HP:0002007
32 muscular hypotonia 58 Frequent (79-30%)
33 delayed speech and language development 31 HP:0000750
34 malformation of the heart and great vessels 58 Frequent (79-30%)
35 everted lower lip vermilion 31 HP:0000232
36 dolichocephaly 31 HP:0000268
37 thin upper lip vermilion 31 HP:0000219
38 deep philtrum 31 HP:0002002
39 bulbous nose 31 HP:0000414
40 broad forehead 31 HP:0000337
41 hypotelorism 31 HP:0000601
42 muscular hypotonia of the trunk 31 HP:0008936
43 anteverted ears 31 HP:0040080

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
frontal bossing
high, broad forehead
deep, prominent philtrum

Head And Neck Eyes:
retinoblastoma
hypotelorism
epicanthal folds

Head And Neck Ears:
anteverted ears
thick earlobes

Neurologic Central Nervous System:
mental retardation
axial hypotonia
delayed language development
diplegia
hypoplasia of the corpus callosum (2 patients)

Head And Neck Head:
dolichocephaly

Neoplasia:
retinoblastoma

Head And Neck Mouth:
thin upper lip
thick, everted lower lip

Head And Neck Nose:
short, bulbous nose

Clinical features from OMIM®:

613884 (Updated 05-Mar-2021)

Drugs & Therapeutics for Chromosome 13q14 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 13q14 Deletion Syndrome

Genetic Tests for Chromosome 13q14 Deletion Syndrome

Genetic tests related to Chromosome 13q14 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 13q Deletion 29

Anatomical Context for Chromosome 13q14 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 13q14 Deletion Syndrome:

40
Eye, Heart

Publications for Chromosome 13q14 Deletion Syndrome

Articles related to Chromosome 13q14 Deletion Syndrome:

(show all 16)
# Title Authors PMID Year
1
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. 57
17502991 2007
2
Variable expression of ophthalmological findings in the 13q deletion syndrome. 57
15642837 2005
3
Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome. 57
12796275 2003
4
Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome. 57
11812445 2002
5
Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. 57
10450867 1999
6
Familial retinoblastoma (mother and son) with 13q14 deletion. 57
3653883 1987
7
A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q. 57
6885051 1983
8
Is the interstitial deletion of 13q in retinoblastoma patients not transmissible? 57
6885063 1983
9
High rate of detection of 13q14 deletion mosaicism among retinoblastoma patients (using more extensive methods). 57
7129450 1982
10
Lymphocyte chromosome survey in 42 patients with retinoblastoma: effort to detect 13q14 deletion mosaicism. 57
7287000 1981
11
Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2. 61
30302424 2018
12
Chromosome 13q deletion syndrome involving 13q31‑qter: A case report. 61
28393221 2017
13
Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome. 61
17933676 2007
14
Chromosome 13q deletion with Cornelia de Lange syndrome phenotype. 61
17682579 2007
15
Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome. 61
14746602 2004
16
Chromosomal abnormalities in human retinoblastoma. A review. 61
3524791 1986

Variations for Chromosome 13q14 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 13q14 Deletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARL11 NC_000013.11:g.46968080_87381985del40413906 Deletion Pathogenic 545122 13:46968080-87381985

Expression for Chromosome 13q14 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 13q14 Deletion Syndrome.

Pathways for Chromosome 13q14 Deletion Syndrome

Pathways related to Chromosome 13q14 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.05 TP53 RB1 ATM
2 10.46 TP53 RB1 ATM
3 10.43 TP53 ATM

GO Terms for Chromosome 13q14 Deletion Syndrome

Biological processes related to Chromosome 13q14 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 determination of adult lifespan GO:0008340 9.16 TP53 ATM
2 replicative senescence GO:0090399 8.96 TP53 ATM
3 neuron apoptotic process GO:0051402 8.8 TP53 RB1 ATM

Sources for Chromosome 13q14 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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