MCID: 6Q1002
MIFTS: 13

6q16 Microdeletion Syndrome

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

Aliases & Classifications for 6q16 Microdeletion Syndrome

MalaCards integrated aliases for 6q16 Microdeletion Syndrome:

Name: 6q16 Microdeletion Syndrome 59
Prader-Willi-Like Syndrome Due to Microdeletion 6q16 59
Monosomy 6q16 59
Del(6)(q16) 59

Characteristics:

Orphanet epidemiological data:

59
6q16 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA171829

Summaries for 6q16 Microdeletion Syndrome

MalaCards based summary : 6q16 Microdeletion Syndrome, is also known as prader-willi-like syndrome due to microdeletion 6q16. An important gene associated with 6q16 Microdeletion Syndrome is SIM1 (SIM BHLH Transcription Factor 1). Affiliated tissues include heart, and related phenotypes are muscular hypotonia and global developmental delay

Related Diseases for 6q16 Microdeletion Syndrome

Symptoms & Phenotypes for 6q16 Microdeletion Syndrome

Human phenotypes related to 6q16 Microdeletion Syndrome:

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

Drugs & Therapeutics for 6q16 Microdeletion Syndrome

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

Genetic Tests for 6q16 Microdeletion Syndrome

Anatomical Context for 6q16 Microdeletion Syndrome

MalaCards organs/tissues related to 6q16 Microdeletion Syndrome:

41
Heart

Publications for 6q16 Microdeletion Syndrome

Variations for 6q16 Microdeletion Syndrome

Expression for 6q16 Microdeletion Syndrome

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

Pathways for 6q16 Microdeletion Syndrome

GO Terms for 6q16 Microdeletion Syndrome

Sources for 6q16 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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