MCID: 6Q1002
MIFTS: 15

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 eye, and related phenotypes are global developmental delay and delayed speech and language development

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 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
5 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
6 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
7 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
8 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
9 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
10 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
11 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
12 abnormal temper tantrums 58 31 frequent (33%) Frequent (79-30%) HP:0025160
13 almond-shaped palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0007874
14 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
15 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
16 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
17 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
18 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
19 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
20 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
21 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
22 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
23 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
24 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
25 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
26 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
27 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
28 long foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001833
29 poor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0002370
30 abnormal thorax morphology 31 occasional (7.5%) HP:0000765
31 abnormality of the eye 58 Occasional (29-5%)
32 abnormality of the thorax 58 Occasional (29-5%)
33 abnormal ear morphology 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
Eye

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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