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 57 12 29 13 73

Characteristics:

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
chromosome 6q11-q14 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 6q11-Q14 Deletion Syndrome

OMIM : 57 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 hypertelorism and low-set ears

Related Diseases for Chromosome 6q11-Q14 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 6q11-Q14 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 high palate 32 HP:0000218
5 inguinal hernia 32 occasional (7.5%) HP:0000023
6 global developmental delay 32 HP:0001263
7 umbilical hernia 32 HP:0001537
8 short nose 32 HP:0003196
9 short stature 32 HP:0004322
10 long philtrum 32 HP:0000343
11 epicanthus 32 HP:0000286
12 abnormality of the pinna 32 HP:0000377
13 upslanted palpebral fissure 32 HP:0000582
14 broad nasal tip 32 HP:0000455
15 thin upper lip vermilion 32 HP:0000219
16 hypotelorism 32 occasional (7.5%) HP:0000601
17 generalized hypotonia 32 HP:0001290
18 single transverse palmar crease 32 HP:0000954

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

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 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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