MCID: 6QT002
MIFTS: 20

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

Related Diseases for 6q Terminal Deletion Syndrome

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