MCID: CHR492
MIFTS: 46

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 57 12 13 15 73
Chromosome 13q Deletion 53 29 73
Chromosome 13q Deletion Syndrome 57 73
Deletion 13q14 12 59
Monosomy 13q14 59
13q Deletion 53
13q Monosomy 53
Deletion 13q 53
Monosomy 13q 53
Del(13)(q14) 59

Characteristics:

OMIM:

57
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:

32
chromosome 13q14 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 13q14 Deletion Syndrome

NIH Rare Diseases : 53 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 leukemia, chronic lymphocytic and anal atresia, hypospadias, and penoscrotal inversion. 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. Affiliated tissues include testes, heart and eye, and related phenotypes are hypertelorism and low-set ears

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)

Wikipedia : 76 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 48)
# Related Disease Score Top Affiliating Genes
1 leukemia, chronic lymphocytic 29.6 CD38 ITGA4 ZAP70
2 anal atresia, hypospadias, and penoscrotal inversion 11.6
3 autism 3 11.3
4 myeloma, multiple 10.2
5 leukemia, chronic lymphocytic 2 10.1
6 lymphocytic leukemia 10.1
7 leukemia, b-cell, chronic 10.1
8 leukemia 10.1
9 neural tube defects 10.0
10 anencephaly 10.0
11 neural tube defects, folate-sensitive 10.0
12 microcephaly 10.0
13 chromosomal triplication 10.0
14 chromosome 7p duplication 10.0
15 chromosome 7q duplication 10.0
16 burkitt lymphoma 10.0
17 autoimmune lymphoproliferative syndrome, type v 10.0
18 lymphoproliferative syndrome 10.0
19 retinoblastoma 10.0
20 microphthalmia 10.0
21 b cell prolymphocytic leukemia 10.0 CD38 ZAP70
22 prolymphocytic leukemia 10.0 CD38 ZAP70
23 cornelia de lange syndrome 9.9
24 infantile epileptic encephalopathy 9.9
25 larynx cancer 9.9
26 monoclonal gammopathy of uncertain significance 9.9
27 waardenburg's syndrome 9.9
28 tetraploidy 9.9
29 pituitary tumors 9.9
30 b-cell expansion with nfkb and t-cell anergy 9.9 CD38 ZAP70
31 gastroesophageal reflux 9.8
32 vater/vacterl association 9.8
33 anus, imperforate 9.8
34 factor vii deficiency 9.8
35 myelofibrosis 9.8
36 polydactyly 9.8
37 waardenburg syndrome, type 4b 9.8
38 waardenburg syndrome, type 4c 9.8
39 holoprosencephaly 9.8
40 lymphoma 9.8
41 intestinal atresia 9.8
42 vacterl association 9.8
43 bilateral retinoblastoma 9.8
44 dandy-walker complex 9.8
45 xp22.3 microdeletion syndrome 9.8
46 trisomy 1q 9.8
47 hematologic cancer 9.8 CD38 RB1 ZAP70
48 cll/sll 9.4 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chromosome 13q14 Deletion Syndrome:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
5 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
8 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
9 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
10 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
14 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
15 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
16 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
17 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
18 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
19 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
20 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
21 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
22 retinoblastoma 59 32 frequent (33%) Frequent (79-30%) HP:0009919
23 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
24 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
25 thickened helices 59 32 hallmark (90%) Very frequent (99-80%) HP:0000391
26 abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0011024
27 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009601
28 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
29 trigonocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000243
30 frontal bossing 32 HP:0002007
31 delayed speech and language development 32 HP:0000750
32 malformation of the heart and great vessels 59 Frequent (79-30%)
33 dolichocephaly 32 HP:0000268
34 everted lower lip vermilion 32 HP:0000232
35 broad forehead 32 HP:0000337
36 bulbous nose 32 HP:0000414
37 thin upper lip vermilion 32 HP:0000219
38 deep philtrum 32 HP:0002002
39 hypotelorism 32 HP:0000601
40 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
41 muscular hypotonia of the trunk 32 HP:0008936
42 anteverted ears 32 HP:0040080

MGI Mouse Phenotypes related to Chromosome 13q14 Deletion Syndrome:

46
# 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

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:

41
Testes, Heart, Eye, Pituitary, T Cells, B 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 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
5
Chromosome 13q deletion with Cornelia de Lange syndrome phenotype. ( 17682579 )
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

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 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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