MCID: CHR400
MIFTS: 14

Chromosome 6q11-Q14 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 6q11-Q14 Deletion Syndrome

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

Name: Chromosome 6q11-Q14 Deletion Syndrome 58 12 30 13 74

Characteristics:

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

33
chromosome 6q11-q14 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 6q11-Q14 Deletion Syndrome

OMIM : 58 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)

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

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:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 33 occasional (7.5%) HP:0000023
2 hypotelorism 33 occasional (7.5%) HP:0000601
3 hypertelorism 33 HP:0000316
4 low-set ears 33 HP:0000369
5 short neck 33 HP:0000470
6 high palate 33 HP:0000218
7 global developmental delay 33 HP:0001263
8 umbilical hernia 33 HP:0001537
9 short nose 33 HP:0003196
10 short stature 33 HP:0004322
11 long philtrum 33 HP:0000343
12 epicanthus 33 HP:0000286
13 abnormality of the pinna 33 HP:0000377
14 upslanted palpebral fissure 33 HP:0000582
15 broad nasal tip 33 HP:0000455
16 thin upper lip vermilion 33 HP:0000219
17 generalized hypotonia 33 HP:0001290
18 single transverse palmar crease 33 HP:0000954

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
epicanthic folds
upslanting palpebral fissures
hypotelorism (in some patients)

Head And Neck Neck:
short neck

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

Neurologic Central Nervous System:
hypotonia
psychomotor delay

Skeletal Hands:
single palmar crease

Head And Neck Ears:
low-set ears
dysplastic ears

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

Growth Height:
short stature

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

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 30

Anatomical Context for Chromosome 6q11-Q14 Deletion Syndrome

Publications for Chromosome 6q11-Q14 Deletion Syndrome

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
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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