MCID: 6Q1002
MIFTS: 16

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 58
Prader-Willi-Like Syndrome Due to Microdeletion 6q16 58
Monosomy 6q16 58
Del(6)(q16) 58

Characteristics:

Orphanet epidemiological data:

58
6q16 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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 global developmental delay and muscular hypotonia

Related Diseases for 6q16 Microdeletion Syndrome

Symptoms & Phenotypes for 6q16 Microdeletion Syndrome

Human phenotypes related to 6q16 Microdeletion Syndrome:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
4 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
7 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
8 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
9 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
10 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
11 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
12 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
13 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
14 microretrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000308
15 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
16 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
18 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
19 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
20 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
21 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
22 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
23 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
24 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
25 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
26 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
27 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
28 misalignment of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000692
29 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
30 narrow nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000460
31 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
32 malformation of the heart and great vessels 58 Occasional (29-5%)
33 autistic behavior 58 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:

40
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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