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 60
Prader-Willi-Like Syndrome Due to Microdeletion 6q16 60
Monosomy 6q16 60
Del(6)(q16) 60

Characteristics:

Orphanet epidemiological data:

60
6q16 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 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 macrocephaly and hypertelorism

Related Diseases for 6q16 Microdeletion Syndrome

Symptoms & Phenotypes for 6q16 Microdeletion Syndrome

Human phenotypes related to 6q16 Microdeletion Syndrome:

60 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 Frequent (79-30%)
2 hypertelorism 60 Occasional (29-5%)
3 low-set ears 60 Frequent (79-30%)
4 obesity 60 Frequent (79-30%)
5 high palate 60 Occasional (29-5%)
6 nystagmus 60 Occasional (29-5%)
7 muscular hypotonia 60 Very frequent (99-80%)
8 eeg abnormality 60 Frequent (79-30%)
9 macrotia 60 Frequent (79-30%)
10 global developmental delay 60 Very frequent (99-80%)
11 delayed speech and language development 60 Frequent (79-30%)
12 microcephaly 60 Occasional (29-5%)
13 short stature 60 Occasional (29-5%)
14 brachycephaly 60 Frequent (79-30%)
15 full cheeks 60 Frequent (79-30%)
16 malformation of the heart and great vessels 60 Occasional (29-5%)
17 strabismus 60 Frequent (79-30%)
18 short palm 60 Occasional (29-5%)
19 epicanthus 60 Frequent (79-30%)
20 short foot 60 Occasional (29-5%)
21 autism 60 Occasional (29-5%)
22 myopia 60 Occasional (29-5%)
23 prominent nasal bridge 60 Frequent (79-30%)
24 clinodactyly of the 5th finger 60 Occasional (29-5%)
25 round face 60 Frequent (79-30%)
26 bulbous nose 60 Occasional (29-5%)
27 polyphagia 60 Frequent (79-30%)
28 microretrognathia 60 Frequent (79-30%)
29 tapered finger 60 Occasional (29-5%)
30 autistic behavior 60 Occasional (29-5%)
31 misalignment of teeth 60 Occasional (29-5%)
32 narrow nose 60 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:

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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