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 58

Characteristics:

Orphanet epidemiological data:

58
obesity due to sim1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
4 polyphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002591
5 postural hypotension with compensatory tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005307
6 low levels of vitamin b1 31 hallmark (90%) HP:0100503
7 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
8 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
9 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
10 glucose intolerance 31 occasional (7.5%) HP:0001952
11 hypotension 58 Very frequent (99-80%)
12 muscular hypotonia 58 Excluded (0%)
13 dysautonomia 58 Very frequent (99-80%)
14 short stature 58 Excluded (0%)
15 feeding difficulties 58 Excluded (0%)
16 cognitive impairment 58 Very frequent (99-80%)
17 abnormal autonomic nervous system physiology 58 Very frequent (99-80%)
18 vitamin b1 deficiency 58 Very frequent (99-80%)
19 abnormal glucose tolerance 58 Occasional (29-5%)
20 increased resting energy expenditure 58 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
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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