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 periventricular nodular heterotopia. An important gene associated with 6q Terminal Deletion Syndrome is ERMARD (ER Membrane Associated RNA Degradation). Affiliated tissues include cortex, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for 6q Terminal Deletion Syndrome

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

# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 10.0

Symptoms & Phenotypes for 6q Terminal Deletion Syndrome

Human phenotypes related to 6q Terminal Deletion Syndrome:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
4 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
5 clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0030084
6 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
7 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
8 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
9 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
12 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
13 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
14 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
15 prominent forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0011220
16 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
17 hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000962
18 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
19 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
20 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
21 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
22 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
23 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
24 joint laxity 59 32 frequent (33%) Frequent (79-30%) HP:0001388
25 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
26 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
27 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
28 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
29 hallux valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001822
30 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
31 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000771
32 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357
33 polymicrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002126
34 prominent metopic ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005487
35 hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002079
36 broad philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000289
37 short palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0012745
38 hypsarrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002521
39 hypermetropia 59 32 frequent (33%) Frequent (79-30%) HP:0000540
40 periventricular gray matter heterotopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007165
41 colpocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0030048
42 aplasia/hypoplasia of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0006712
43 infantile muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008947
44 talipes calcaneovalgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001884
45 phimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001741
46 abnormality of neuronal migration 59 Very frequent (99-80%)
47 heterotopia 59 Very frequent (99-80%)
48 abnormality of the cerebral white matter 59 Very frequent (99-80%)
49 abnormality of the cerebral cortex 59 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:

41
Cortex

Publications for 6q Terminal Deletion Syndrome

Articles related to 6q Terminal Deletion Syndrome:

# Title Authors Year
1
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. ( 24056535 )
2013
2
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. ( 20082458 )
2010
3
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. ( 16906558 )
2006
4
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. ( 16686647 )
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 ERMARD QKI

Sources for 6q Terminal 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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