MCID: CHR492
MIFTS: 41

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 56 12 13 15 71
Chromosome 13q Deletion 52 29 71
Chromosome 13q Deletion Syndrome 56 71
Deletion 13q14 12 58
Monosomy 13q14 58
13q Deletion 52
13q Monosomy 52
Deletion 13q 52
Monosomy 13q 52
Del(13)(q14) 58

Characteristics:

OMIM:

56
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

NIH Rare Diseases : 52 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, is related to plasma cell neoplasm and myeloma, multiple. An important gene associated with Chromosome 13q14 Deletion Syndrome is DEL13Q14 (Chromosome 13q14 Deletion Syndrome). The drugs Lenalidomide and rituximab have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and b cells, and related phenotypes are hypertelorism and intellectual disability

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 : 56 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)

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 156)
# Related Disease Score Top Affiliating Genes
1 plasma cell neoplasm 29.1 IGHV4-38-2 CD5 CD38
2 myeloma, multiple 28.6 MIR15A IGHV4-38-2 CD5 CD38 ATM
3 leukemia, chronic lymphocytic 2 28.5 ZAP70 CD5 CD38 ATM
4 leukemia, acute myeloid 28.0 MIR15A IGHV4-38-2 CD5 CD38 ATM
5 lymphocytic leukemia 27.8 ZAP70 MIR15A CLLU1 CD5 CD38 ATM
6 leukemia, chronic lymphocytic 27.6 ZAP70 MIR15A IGHV4-38-2 CLLU1 CD5 CD38
7 anal atresia, hypospadias, and penoscrotal inversion 11.7
8 autism 3 11.4
9 holoprosencephaly 10.2
10 chromosomal triplication 10.2
11 non-secretory myeloma 10.1 IGHV4-38-2 CD38
12 partial deletion of the long arm of chromosome 13 10.1
13 cleft palate, isolated 10.0
14 hypertelorism 10.0
15 anencephaly 10.0
16 retinitis pigmentosa 11 10.0
17 alacrima, achalasia, and mental retardation syndrome 10.0
18 helix syndrome 10.0
19 congenital hypothyroidism 10.0
20 dextro-looped transposition of the great arteries 10.0
21 hypothyroidism 10.0
22 sex development disorder 10.0
23 double outlet right ventricle 10.0
24 chromosome 10q duplication 10.0
25 chromosome 18p duplication 10.0
26 chromosome 4p duplication 10.0
27 chromosome 7p duplication 10.0
28 chromosome 7q duplication 10.0
29 chromosome 8p duplication 10.0
30 chromosome 8q duplication 10.0
31 colpocephaly 10.0
32 exencephaly 10.0
33 hypertonia 10.0
34 partial duplication of the short arm of chromosome 4 10.0
35 cleft mitral valve 10.0
36 midline interhemispheric variant of holoprosencephaly 10.0
37 burkitt lymphoma 10.0
38 tracheoesophageal fistula with or without esophageal atresia 10.0
39 myelofibrosis 10.0
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
41 myelomeningocele 10.0
42 sensorineural hearing loss 10.0
43 heart septal defect 10.0
44 hypotonia 10.0
45 anorectal anomalies 10.0
46 gastroesophageal reflux 10.0
47 retinoblastoma 10.0
48 microphthalmia 10.0
49 leukocoria 10.0
50 familial retinoblastoma 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 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
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 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
10 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
11 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
12 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
13 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
14 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
15 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
16 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
17 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
18 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
19 abnormal dermatoglyphics 58 31 frequent (33%) Frequent (79-30%) HP:0007477
20 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
21 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
22 trigonocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000243
23 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
24 retinoblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0009919
25 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
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 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
29 abnormality of the gastrointestinal tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0011024
30 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
31 frontal bossing 31 HP:0002007
32 delayed speech and language development 31 HP:0000750
33 dolichocephaly 31 HP:0000268
34 malformation of the heart and great vessels 58 Frequent (79-30%)
35 everted lower lip vermilion 31 HP:0000232
36 broad forehead 31 HP:0000337
37 thin upper lip vermilion 31 HP:0000219
38 deep philtrum 31 HP:0002002
39 bulbous nose 31 HP:0000414
40 hypotelorism 31 HP:0000601
41 muscular hypotonia of the trunk 31 HP:0008936
42 anteverted ears 31 HP:0040080

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Chromosome 13q14 Deletion Syndrome

Drugs for Chromosome 13q14 Deletion Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2
rituximab Approved Phase 2 174722-31-7 10201696
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
5
Pembrolizumab Approved Phase 2 1374853-91-4
6
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
7 Angiogenesis Inhibitors Phase 2
8 Antirheumatic Agents Phase 2
9 Immunologic Factors Phase 2
10 Antineoplastic Agents, Immunological Phase 2
11 Anti-Infective Agents Phase 2
12 Antiviral Agents Phase 2
13 Immunosuppressive Agents Phase 2
14 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lenalidomide Following Rituximab and Fludarabine in Untreated Chronic Lymphocytic Leukemia Completed NCT00860457 Phase 2 Rituximab;Fludarabine;Lenalidomide
2 A Phase II Study Of Ibrutinib, Fludarabine, and Pembrolizumab in High-Risk or Relapsed/Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL) Recruiting NCT03204188 Phase 2 Ibrutinib;Fludarabine;Pembrolizumab
3 Cytogenetic and Fluorescence In Situ Hybridization Studies in Multiple Myeloma Completed NCT00898066

Search 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
Testes, Heart, B Cells, Eye, Bone, Pituitary, Myeloid

Publications for Chromosome 13q14 Deletion Syndrome

Articles related to Chromosome 13q14 Deletion Syndrome:

(show all 35)
# Title Authors PMID Year
1
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. 56
17502991 2007
2
Variable expression of ophthalmological findings in the 13q deletion syndrome. 56
15642837 2005
3
Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome. 56
12796275 2003
4
Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome. 56
11812445 2002
5
Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. 56
10450867 1999
6
Familial retinoblastoma (mother and son) with 13q14 deletion. 56
3653883 1987
7
A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q. 56
6885051 1983
8
Is the interstitial deletion of 13q in retinoblastoma patients not transmissible? 56
6885063 1983
9
High rate of detection of 13q14 deletion mosaicism among retinoblastoma patients (using more extensive methods). 56
7129450 1982
10
Lymphocyte chromosome survey in 42 patients with retinoblastoma: effort to detect 13q14 deletion mosaicism. 56
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
Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution. 61
26638776 2015
14
Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma. 61
24485929 2014
15
TRIM13 (RFP2) downregulation decreases tumour cell growth in multiple myeloma through inhibition of NF Kappa B pathway and proteasome activity. 61
23647456 2013
16
Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion. 61
19927293 2010
17
[Chromosome 13q deletion detected by interphase FISH in multiple myeloma: a study of 100 cases in China]. 61
19950573 2009
18
Chromosome 13q deletion and IgH abnormalities may be both masked by near-tetraploidy in a high proportion of multiple myeloma patients: a combined morphology and I-FISH analysis. 61
17590504 2007
19
Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome. 61
17933676 2007
20
Chromosome 13q deletion with Cornelia de Lange syndrome phenotype. 61
17682579 2007
21
Relevance of Ras gene mutations in the context of the molecular heterogeneity of multiple myeloma. 61
17036375 2007
22
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 61
17209130 2007
23
Bortezomib in relapsed multiple myeloma: response rates and duration of response are independent of a chromosome 13q-deletion. 61
17096015 2007
24
Molecular classification of multiple myeloma: a distinct transcriptional profile characterizes patients expressing CCND1 and negative for 14q32 translocations. 61
16129847 2005
25
Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation. 61
15863591 2005
26
Determination of chromosome 13 status in bone marrow cells of patients with multiple myeloma using combined morphologic and fluorescence in situ hybridization analysis. 61
15003310 2004
27
Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome. 61
14746602 2004
28
Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene. 61
11857562 2002
29
Chromosome 13q deletion mapping in pituitary tumors: infrequent loss of the retinoblastoma susceptibility gene (RB1) locus despite loss of RB1 protein product in somatotrophinomas. 61
10197629 1999
30
Lack of clonal BCRA2 gene deletion on chromosome 13 in chronic lymphocytic leukaemia. 61
9217187 1997
31
Chromosome 13q deletion mapping in head and neck squamous cell carcinomas: identification of two distinct regions of preferential loss. 61
8640775 1996
32
Evidence for the presence of two tumour-suppressor genes for hepatocellular carcinoma on chromosome 13q. 61
7640222 1995
33
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. 61
7562965 1995
34
Chromosomal abnormalities in human retinoblastoma. A review. 61
3524791 1986
35
A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13. 61
3864729 1985

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 subset of 207 genes: EDNRB , RB1 NC_000013.11:g.46968080_87381985del40413906deletion 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

GO Terms for Chromosome 13q14 Deletion Syndrome

Sources for Chromosome 13q14 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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