MCID: CHR400
MIFTS: 18

Chromosome 6q11-Q14 Deletion Syndrome

Categories: Bone diseases, Ear diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Chromosome 6q11-Q14 Deletion Syndrome

MalaCards integrated aliases for Chromosome 6q11-Q14 Deletion Syndrome:

Name: Chromosome 6q11-Q14 Deletion Syndrome 56 12 29 13 71

Characteristics:

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
chromosome 6q11-q14 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 6q11-Q14 Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.

MalaCards based summary : Chromosome 6q11-Q14 Deletion Syndrome An important gene associated with Chromosome 6q11-Q14 Deletion Syndrome is DEL6Q11Q14 (Chromosome 6q11-Q14 Deletion Syndrome). Related phenotypes are inguinal hernia and hypotelorism

OMIM : 56 The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate (summary by Wang et al., 2009). (613544)

Related Diseases for Chromosome 6q11-Q14 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 6q11-Q14 Deletion Syndrome

Human phenotypes related to Chromosome 6q11-Q14 Deletion Syndrome:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 occasional (7.5%) HP:0000023
2 hypotelorism 31 occasional (7.5%) HP:0000601
3 global developmental delay 31 HP:0001263
4 hypertelorism 31 HP:0000316
5 short neck 31 HP:0000470
6 umbilical hernia 31 HP:0001537
7 short nose 31 HP:0003196
8 short stature 31 HP:0004322
9 high palate 31 HP:0000218
10 low-set ears 31 HP:0000369
11 epicanthus 31 HP:0000286
12 upslanted palpebral fissure 31 HP:0000582
13 thin upper lip vermilion 31 HP:0000219
14 long philtrum 31 HP:0000343
15 single transverse palmar crease 31 HP:0000954
16 broad nasal tip 31 HP:0000455
17 generalized hypotonia 31 HP:0001290
18 abnormality of the pinna 31 HP:0000377

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
epicanthic folds
upslanting palpebral fissures
hypotelorism (in some patients)

Abdomen External Features:
umbilical hernia
inguinal hernia (in some patients)

Growth Height:
short stature

Head And Neck Mouth:
thin upper lip
high-arched palate

Skeletal Hands:
single palmar crease

Head And Neck Neck:
short neck

Head And Neck Nose:
short nose
long philtrum
broad nasal tip

Head And Neck Ears:
low-set ears
dysplastic ears

Neurologic Central Nervous System:
hypotonia
psychomotor delay

Clinical features from OMIM:

613544

Drugs & Therapeutics for Chromosome 6q11-Q14 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 6q11-Q14 Deletion Syndrome

Genetic Tests for Chromosome 6q11-Q14 Deletion Syndrome

Genetic tests related to Chromosome 6q11-Q14 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 6q11-Q14 Deletion Syndrome 29

Anatomical Context for Chromosome 6q11-Q14 Deletion Syndrome

Publications for Chromosome 6q11-Q14 Deletion Syndrome

Articles related to Chromosome 6q11-Q14 Deletion Syndrome:

# Title Authors PMID Year
1
Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. 56
20685673 2010
2
Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients. 56
19213033 2009
3
Proximal interstitial 6q deletion: a recognizable syndrome. 56
9268108 1997
4
Interstitial deletion (6)q13q15. 56
8723062 1996
5
Interstitial deletion (6) (q11----q15) in an infant with congenital abnormalities. 56
3351912 1988
6
Deletions of the long arm of chromosome 6: two new cases and review of the literature. 56
3881954 1985

Variations for Chromosome 6q11-Q14 Deletion Syndrome

Expression for Chromosome 6q11-Q14 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 6q11-Q14 Deletion Syndrome.

Pathways for Chromosome 6q11-Q14 Deletion Syndrome

GO Terms for Chromosome 6q11-Q14 Deletion Syndrome

Sources for Chromosome 6q11-Q14 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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