MCID: OBS060
MIFTS: 11

Obesity Due to Sim1 Deficiency

Categories: Endocrine diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Obesity Due to Sim1 Deficiency

MalaCards integrated aliases for Obesity Due to Sim1 Deficiency:

Name: Obesity Due to Sim1 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
obesity due to sim1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Obesity Due to Sim1 Deficiency

MalaCards based summary : Obesity Due to Sim1 Deficiency An important gene associated with Obesity Due to Sim1 Deficiency is SIM1 (SIM BHLH Transcription Factor 1). Related phenotypes are obesity and global developmental delay

Related Diseases for Obesity Due to Sim1 Deficiency

Symptoms & Phenotypes for Obesity Due to Sim1 Deficiency

Human phenotypes related to Obesity Due to Sim1 Deficiency:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hyperinsulinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000842
4 polyphagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002591
5 vitamin b1 deficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0100503
6 postural hypotension with compensatory tachycardia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005307
7 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
8 memory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002354
9 autistic behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000729
10 glucose intolerance 33 occasional (7.5%) HP:0001952
11 muscular hypotonia 60 Excluded (0%)
12 dysautonomia 60 Very frequent (99-80%)
13 hypotension 60 Very frequent (99-80%)
14 short stature 60 Excluded (0%)
15 cognitive impairment 60 Very frequent (99-80%)
16 feeding difficulties 60 Excluded (0%)
17 abnormal autonomic nervous system physiology 60 Very frequent (99-80%)
18 abnormal glucose tolerance 60 Occasional (29-5%)
19 increased resting energy expenditure 60 Excluded (0%)

Drugs & Therapeutics for Obesity Due to Sim1 Deficiency

Search Clinical Trials , NIH Clinical Center for Obesity Due to Sim1 Deficiency

Genetic Tests for Obesity Due to Sim1 Deficiency

Anatomical Context for Obesity Due to Sim1 Deficiency

Publications for Obesity Due to Sim1 Deficiency

Variations for Obesity Due to Sim1 Deficiency

Expression for Obesity Due to Sim1 Deficiency

Search GEO for disease gene expression data for Obesity Due to Sim1 Deficiency.

Pathways for Obesity Due to Sim1 Deficiency

GO Terms for Obesity Due to Sim1 Deficiency

Sources for Obesity Due to Sim1 Deficiency

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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