Obesity Due to Sim1 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Obesity and other hyperalimentation

Obesity

Other obesity

Orphanet: ⁵⁸

Rare endocrine diseases

External Ids:

ICD10 via Orphanet ³³ E66.8

Orphanet ⁵⁸ ORPHA369873

SNOMED-CT via HPO ⁶⁸ 224958001 267023007 386807006 more

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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

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Related Diseases for Obesity Due to Sim1 Deficiency

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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%)

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Drugs & Therapeutics for Obesity Due to Sim1 Deficiency

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

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Genetic Tests for Obesity Due to Sim1 Deficiency

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Anatomical Context for Obesity Due to Sim1 Deficiency

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Publications for Obesity Due to Sim1 Deficiency

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Genes for Obesity Due to Sim1 Deficiency

Genes related to Obesity Due to Sim1 Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SIM1	SIM BHLH Transcription Factor 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸

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Variations for Obesity Due to Sim1 Deficiency

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Expression for Obesity Due to Sim1 Deficiency

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

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Pathways for Obesity Due to Sim1 Deficiency

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GO Terms for Obesity Due to Sim1 Deficiency

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Sources for Obesity Due to Sim1 Deficiency

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