MCID: 6Q1001
MIFTS: 18

6q16 Deletion Syndrome

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 6q16 Deletion Syndrome

Summaries for 6q16 Deletion Syndrome

MalaCards based summary : 6q16 Deletion Syndrome, is also known as prader-willi-like syndrome due to deletion 6q16. An important gene associated with 6q16 Deletion Syndrome is SIM1 (SIM BHLH Transcription Factor 1). Affiliated tissues include heart, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for 6q16 Deletion Syndrome

Symptoms & Phenotypes for 6q16 Deletion Syndrome

Human phenotypes related to 6q16 Deletion Syndrome:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
4 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
5 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
6 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
9 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
12 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
13 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
14 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
15 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
16 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
17 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
18 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
19 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
20 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
21 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
22 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
23 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
24 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
25 bulbous nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000414
26 polyphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002591
27 microretrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000308
28 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
29 misalignment of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000692
30 narrow nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000460
31 malformation of the heart and great vessels 59 Occasional (29-5%)
32 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
33 autistic behavior 59 Occasional (29-5%)

Drugs & Therapeutics for 6q16 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for 6q16 Deletion Syndrome

Genetic Tests for 6q16 Deletion Syndrome

Anatomical Context for 6q16 Deletion Syndrome

MalaCards organs/tissues related to 6q16 Deletion Syndrome:

41
Heart

Publications for 6q16 Deletion Syndrome

Variations for 6q16 Deletion Syndrome

Expression for 6q16 Deletion Syndrome

Search GEO for disease gene expression data for 6q16 Deletion Syndrome.

Pathways for 6q16 Deletion Syndrome

GO Terms for 6q16 Deletion Syndrome

Sources for 6q16 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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