MCID: OBS060
MIFTS: 9

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 59

Characteristics:

Orphanet epidemiological data:

59
obesity due to sim1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 34 E66.8
Orphanet 59 ORPHA369873

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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
4 polyphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002591
5 postural hypotension with compensatory tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005307
6 low levels of vitamin b1 32 hallmark (90%) HP:0100503
7 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
8 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
9 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
10 glucose intolerance 32 occasional (7.5%) HP:0001952
11 muscular hypotonia 59 Excluded (0%)
12 dysautonomia 59 Very frequent (99-80%)
13 hypotension 59 Very frequent (99-80%)
14 short stature 59 Excluded (0%)
15 cognitive impairment 59 Very frequent (99-80%)
16 feeding difficulties 59 Excluded (0%)
17 abnormal autonomic nervous system physiology 59 Very frequent (99-80%)
18 vitamin b1 deficiency 59 Very frequent (99-80%)
19 abnormal glucose tolerance 59 Occasional (29-5%)
20 increased resting energy expenditure 59 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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