MCID: 6Q1001
MIFTS: 18

6q16 Deletion Syndrome

Categories: Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare 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 high palate and brachycephaly

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

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
Content
Loading form....