MCID: CHR492
MIFTS: 45

Chromosome 13q14 Deletion Syndrome

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

Aliases & Classifications for Chromosome 13q14 Deletion Syndrome

MalaCards integrated aliases for Chromosome 13q14 Deletion Syndrome:

Name: Chromosome 13q14 Deletion Syndrome 58 12 13 15 74
Chromosome 13q Deletion 54 30 74
Chromosome 13q Deletion Syndrome 58 74
Deletion 13q14 12 60
Monosomy 13q14 60
13q Deletion 54
13q Monosomy 54
Deletion 13q 54
Monosomy 13q 54
Del(13)(q14) 60

Characteristics:

OMIM:

58
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:

33
chromosome 13q14 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 13q14 Deletion Syndrome

NIH Rare Diseases : 54 Chromosome 13q deletionis 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 anal atresia, hypospadias, and penoscrotal inversion and autism 3. An important gene associated with Chromosome 13q14 Deletion Syndrome is DEL13Q14 (Chromosome 13q14 Deletion Syndrome), and among its related pathways/superpathways is Hematopoietic cell lineage. The drugs rituximab and ofatumumab have been mentioned in the context of this disorder. Affiliated tissues include testes, b cells and pituitary, 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 : 58 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 : 77 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 all 49)
# Related Disease Score Top Affiliating Genes
1 anal atresia, hypospadias, and penoscrotal inversion 11.6
2 autism 3 11.3
3 leukemia, chronic lymphocytic 2 10.2
4 leukemia, chronic lymphocytic 10.2
5 leukemia 10.2
6 lymphocytic leukemia 10.2
7 leukemia, b-cell, chronic 10.2
8 myeloma, multiple 10.2
9 anencephaly 10.0
10 microcephaly 10.0
11 chromosome 7p duplication 10.0
12 chromosome 7q duplication 10.0
13 burkitt lymphoma 10.0
14 autoimmune lymphoproliferative syndrome, type v 10.0
15 lymphoma 10.0
16 retinoblastoma 10.0
17 microphthalmia 10.0
18 cornelia de lange syndrome 1 9.9
19 west syndrome 9.9
20 cornelia de lange syndrome 9.9
21 larynx cancer 9.9
22 monoclonal gammopathy of uncertain significance 9.9
23 waardenburg's syndrome 9.9
24 tetraploidy 9.9
25 pituitary tumors 9.9
26 b cell prolymphocytic leukemia 9.9 CD38 ZAP70
27 prolymphocytic leukemia 9.9 CD38 ZAP70
28 gastroesophageal reflux 9.9
29 polydactyly, postaxial, type a1 9.9
30 neural tube defects 9.9
31 vater/vacterl association 9.9
32 anus, imperforate 9.9
33 factor vii deficiency 9.9
34 myelofibrosis 9.9
35 neural tube defects, folate-sensitive 9.9
36 polydactyly 9.9
37 waardenburg syndrome, type 4b 9.9
38 waardenburg syndrome, type 4c 9.9
39 holoprosencephaly 9.9
40 intestinal atresia 9.9
41 vacterl association 9.9
42 bilateral retinoblastoma 9.9
43 chromosomal triplication 9.9
44 dandy-walker complex 9.9
45 xp22.3 microdeletion syndrome 9.9
46 trisomy 1q 9.9
47 b-cell expansion with nfkb and t-cell anergy 9.7 CD38 ZAP70
48 hematologic cancer 9.6 CD38 RB1 ZAP70
49 cll/sll 9.1 CD38 SLC35B2 SOX11 ZAP70

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:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
4 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
7 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
8 thickened helices 60 33 hallmark (90%) Very frequent (99-80%) HP:0000391
9 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
10 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
11 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
12 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
13 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
14 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
15 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
16 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
17 abnormal dermatoglyphics 60 33 frequent (33%) Frequent (79-30%) HP:0007477
18 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
19 microphthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000568
20 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
21 trigonocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000243
22 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
23 retinoblastoma 60 33 frequent (33%) Frequent (79-30%) HP:0009919
24 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
25 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
26 webbed neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000465
27 holoprosencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001360
28 abnormality of the gastrointestinal tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0011024
29 aplasia/hypoplasia of the thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0009601
30 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
31 frontal bossing 33 HP:0002007
32 delayed speech and language development 33 HP:0000750
33 malformation of the heart and great vessels 60 Frequent (79-30%)
34 dolichocephaly 33 HP:0000268
35 everted lower lip vermilion 33 HP:0000232
36 broad forehead 33 HP:0000337
37 bulbous nose 33 HP:0000414
38 thin upper lip vermilion 33 HP:0000219
39 deep philtrum 33 HP:0002002
40 hypotelorism 33 HP:0000601
41 muscular hypotonia of the trunk 33 HP:0008936
42 anteverted ears 33 HP:0040080

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
high, broad forehead
deep, prominent philtrum

Head And Neck Eyes:
retinoblastoma
hypotelorism
epicanthal folds

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

Head And Neck Ears:
anteverted ears
thick earlobes

Head And Neck Head:
dolichocephaly

Neoplasia:
retinoblastoma

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

Head And Neck Nose:
short, bulbous nose

Clinical features from OMIM:

613884

MGI Mouse Phenotypes related to Chromosome 13q14 Deletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.02 CD38 ITGA4 RB1 SOX11 ZAP70

Drugs & Therapeutics for Chromosome 13q14 Deletion Syndrome

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
2
ofatumumab Approved Phase 3,Phase 2 679818-59-8 6918251
3 Antibodies Phase 3,Phase 2
4 Immunoglobulins Phase 3,Phase 2
5 Immunologic Factors Phase 3,Phase 2
6 Antibodies, Monoclonal Phase 3,Phase 2
7
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
8
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
9
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
10
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
12 Antimetabolites Phase 2
13 Immunosuppressive Agents Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Antiviral Agents Phase 2
16 Antineoplastic Agents, Immunological Phase 2
17 Antimetabolites, Antineoplastic Phase 2
18 Antirheumatic Agents Phase 2
19 Alkylating Agents Phase 2
20 Anti-Infective Agents Phase 2
21 Bendamustine Hydrochloride Phase 2
22 Complement System Proteins Phase 2
23 Immunoglobulin G Phase 2
24 Nitrogen Mustard Compounds Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ofatumumab Maintenance Treatment vs No Further Treatment in Relapsed CLL Responding to Induction Therapy Terminated NCT01039376 Phase 3
2 A Study to Assess the Efficacy of Rituximab (MabThera) in First Line Treatment of Chronic Lymphocytic Leukemia (CLL) Completed NCT00545714 Phase 2 Cyclophosphamide;Fludarabine;Rituximab
3 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
4 HuMax-CD20 in B-Cell Chronic Lymphocytic Leukemia (B-CLL) Patients Failing Fludarabine and Alemtuzumab Completed NCT00349349 Phase 2 ofatumumab

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 30

Anatomical Context for Chromosome 13q14 Deletion Syndrome

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

42
Testes, B Cells, Pituitary, Heart, Eye, T Cells

Publications for Chromosome 13q14 Deletion Syndrome

Articles related to Chromosome 13q14 Deletion Syndrome:

(show all 11)
# Title Authors Year
1
Chromosome 13q deletion syndrome involving 13q31‑qter: A case report. ( 28393221 )
2017
2
Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma. ( 24485929 )
2014
3
Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion. ( 19927293 )
2010
4
Chromosome 13q deletion with Cornelia de Lange syndrome phenotype. ( 17682579 )
2007
5
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. ( 17590504 )
2007
6
Bortezomib in relapsed multiple myeloma: response rates and duration of response are independent of a chromosome 13q-deletion. ( 17096015 )
2007
7
Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome. ( 14746602 )
2004
8
Chromosome 13q deletion mapping in pituitary tumors: infrequent loss of the retinoblastoma susceptibility gene (RB1) locus despite loss of RB1 protein product in somatotrophinomas. ( 10197629 )
1999
9
Chromosome 13q deletion mapping in head and neck squamous cell carcinomas: identification of two distinct regions of preferential loss. ( 8640775 )
1996
10
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. ( 7562965 )
1995
11
A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13. ( 3864729 )
1985

Variations for Chromosome 13q14 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 13q14 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 194 genes:EDNRB; RB1 NC_000013.11: g.46968080_87381985del40413906 deletion Pathogenic GRCh38 Chromosome 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 10.61 CD38 ITGA4

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 neuron differentiation GO:0030182 9.16 RB1 SOX11
2 positive regulation of transcription, DNA-templated GO:0045893 9.13 CD38 RB1 SOX11
3 skeletal muscle cell differentiation GO:0035914 8.62 RB1 SOX11

Sources for Chromosome 13q14 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
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