MCID: 6QT002
MIFTS: 21

6q Terminal Deletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 6q Terminal Deletion Syndrome

Summaries for 6q Terminal Deletion Syndrome

MalaCards based summary : 6q Terminal Deletion Syndrome is related to colpocephaly and cyanosis, transient neonatal. An important gene associated with 6q Terminal Deletion Syndrome is ERMARD (ER Membrane Associated RNA Degradation). Affiliated tissues include cortex, and related phenotypes are hypertelorism and seizures

Related Diseases for 6q Terminal Deletion Syndrome

Diseases related to 6q Terminal Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 colpocephaly 10.1
2 cyanosis, transient neonatal 10.0
3 periventricular nodular heterotopia 6 10.0
4 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
5 periventricular nodular heterotopia 10.0
6 hydrocephalus 10.0
7 obstructive hydrocephalus 10.0
8 status epilepticus 10.0
9 focal epilepsy 10.0
10 polymicrogyria 10.0
11 cerebellar hypoplasia 10.0
12 hypotonia 10.0
13 nodular neuronal heterotopia 10.0

Graphical network of the top 20 diseases related to 6q Terminal Deletion Syndrome:



Diseases related to 6q Terminal Deletion Syndrome

Symptoms & Phenotypes for 6q Terminal Deletion Syndrome

Human phenotypes related to 6q Terminal Deletion Syndrome:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
9 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
10 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
11 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
12 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
13 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
14 hypsarrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002521
15 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
16 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
17 polymicrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002126
18 colpocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0030048
19 periventricular heterotopia 31 hallmark (90%) HP:0007165
20 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
21 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
22 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
23 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
24 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
25 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
26 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
27 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
28 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
29 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
30 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
31 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
32 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
33 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
34 broad philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000289
35 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
36 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
37 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
38 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
39 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
40 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
41 prominent metopic ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005487
42 short palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012745
43 aplasia/hypoplasia of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0006712
44 talipes calcaneovalgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001884
45 phimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001741
46 abnormality of neuronal migration 58 Very frequent (99-80%)
47 abnormality of the cerebral white matter 58 Very frequent (99-80%)
48 abnormality of the cerebral cortex 58 Very frequent (99-80%)
49 heterotopia 58 Very frequent (99-80%)
50 periventricular gray matter heterotopia 58 Very frequent (99-80%)

Drugs & Therapeutics for 6q Terminal Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for 6q Terminal Deletion Syndrome

Genetic Tests for 6q Terminal Deletion Syndrome

Anatomical Context for 6q Terminal Deletion Syndrome

MalaCards organs/tissues related to 6q Terminal Deletion Syndrome:

40
Cortex

Publications for 6q Terminal Deletion Syndrome

Articles related to 6q Terminal Deletion Syndrome:

# Title Authors PMID Year
1
Unusual Form of Obstructive Hydrocephalus in Association with 6q Terminal Deletion Syndrome: A Case Report and Literature Review. 61
31597145 2019
2
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 61
24056535 2013
3
Ophthalmologic abnormalities in a de novo terminal 6q deletion. 61
20141352 2010
4
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. 61
20082458 2010
5
Terminal deletion of chromosome 6q. 61
18947005 2008
6
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. 61
16906558 2006
7
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. 61
16686647 2006
8
Isolated 6q terminal deletions: an emerging new syndrome. 61
16329114 2006

Variations for 6q Terminal Deletion Syndrome

Expression for 6q Terminal Deletion Syndrome

Search GEO for disease gene expression data for 6q Terminal Deletion Syndrome.

Pathways for 6q Terminal Deletion Syndrome

GO Terms for 6q Terminal Deletion Syndrome

Biological processes related to 6q Terminal Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 QKI ERMARD

Sources for 6q Terminal 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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