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

MCID: OBS060 MIFTS: 17	Obesity Due to Sim1 Deficiency Categories: Endocrine diseases, Metabolic diseases, Rare diseases
Genes Variations Symptoms & Phenotypes Expand all tables

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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 ⁶

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 global developmental delay and obesity

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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	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
2	obesity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001513
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	muscular hypotonia ⁵⁸		Excluded (0%)
12	short stature ⁵⁸		Excluded (0%)
13	cognitive impairment ⁵⁸		Very frequent (99-80%)
14	feeding difficulties ⁵⁸		Excluded (0%)
15	hypotension ⁵⁸		Very frequent (99-80%)
16	dysautonomia ⁵⁸		Very frequent (99-80%)
17	abnormal glucose tolerance ⁵⁸		Occasional (29-5%)
18	vitamin b1 deficiency ⁵⁸		Very frequent (99-80%)
19	abnormal autonomic nervous system physiology ⁵⁸		Very frequent (99-80%)
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	359.71	Causative germline mutation (loss of function) ⁵⁸ GeneCards inferred via : Variants (show sections)
2	SIM1-AS1	SIM1 Antisense RNA 1	RNA Gene	8.5	GeneCards inferred via : Variants (show sections)

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Variations for Obesity Due to Sim1 Deficiency

ClinVar genetic disease variations for Obesity Due to Sim1 Deficiency:

⁶ (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SIM1	NM_005068.2(SIM1):c.624G>A (p.Val208=)	SNV	Conflicting interpretations of pathogenicity	436727	rs753737612	6:100896474-100896474	6:100448598-100448598
2	SIM1	NM_005068.3(SIM1):c.383T>C (p.Ile128Thr)	SNV	Conflicting interpretations of pathogenicity	729151	rs138546433	6:100897541-100897541	6:100449665-100449665
3	SIM1	NM_005068.2(SIM1):c.279C>T (p.Phe93=)	SNV	Conflicting interpretations of pathogenicity	285978	rs145361258	6:100898212-100898212	6:100450336-100450336
4	SIM1	NM_005068.2(SIM1):c.804T>C (p.His268=)	SNV	Conflicting interpretations of pathogenicity	354684	rs761256648	6:100896068-100896068	6:100448192-100448192
5	SIM1	NM_005068.2(SIM1):c.*450T>C	SNV	Uncertain significance	354668	rs537039330	6:100837787-100837787	6:100389911-100389911
6	SIM1	NM_005068.2(SIM1):c.*99G>A	SNV	Uncertain significance	354673	rs777887808	6:100838138-100838138	6:100390262-100390262
7	SIM1	NM_005068.2(SIM1):c.2111A>T (p.Gln704Leu)	SNV	Uncertain significance	354676	rs886060895	6:100838427-100838427	6:100390551-100390551
8	SIM1	NM_005068.2(SIM1):c.2119G>C (p.Asp707His)	SNV	Uncertain significance	254101	rs74726213	6:100838419-100838419	6:100390543-100390543
9	SIM1	NM_005068.2(SIM1):c.*1278C>T	SNV	Uncertain significance	354664	rs886060893	6:100836959-100836959	6:100389083-100389083
10	SIM1	NM_005068.2(SIM1):c.*1125T>C	SNV	Uncertain significance	354665	rs758539915	6:100837112-100837112	6:100389236-100389236
11	SIM1	NM_005068.2(SIM1):c.2194T>C (p.Leu732=)	SNV	Uncertain significance	354675	rs886060894	6:100838344-100838344	6:100390468-100390468
12	SIM1	NM_005068.2(SIM1):c.1125C>T (p.Leu375=)	SNV	Uncertain significance	354679	rs886060896	6:100868708-100868708	6:100420832-100420832
13	SIM1	NM_005068.2(SIM1):c.-58T>C	SNV	Uncertain significance	354687	rs886060898	6:100911402-100911402	6:100463526-100463526
14	SIM1	NM_005068.2(SIM1):c.-181T>A	SNV	Uncertain significance	354689	rs886060899	6:100911525-100911525	6:100463649-100463649
15	SIM1	NM_005068.2(SIM1):c.*1331T>C	SNV	Uncertain significance	354663	rs554615450	6:100836906-100836906	6:100389030-100389030
16	SIM1	NM_005068.2(SIM1):c.*583G>C	SNV	Uncertain significance	354667	rs776246157	6:100837654-100837654	6:100389778-100389778
17	SIM1	NM_005068.2(SIM1):c.*589G>A	SNV	Uncertain significance	354666	rs769730169	6:100837648-100837648	6:100389772-100389772
18	SIM1	NM_005068.2(SIM1):c.1569T>C (p.His523=)	SNV	Uncertain significance	354677	rs138590764	6:100841364-100841364	6:100393488-100393488
19	SIM1	NM_005068.2(SIM1):c.816C>T (p.Cys272=)	SNV	Uncertain significance	354682	rs764549841	6:100896056-100896056	6:100448180-100448180
20	SIM1	NM_005068.2(SIM1):c.804T>G (p.His268Gln)	SNV	Uncertain significance	354683	rs761256648	6:100896068-100896068	6:100448192-100448192
21	SIM1	NM_005068.3(SIM1):c.2267A>G (p.Lys756Arg)	SNV	Uncertain significance	813617		6:100838271-100838271	6:100390395-100390395
22	SIM1	NM_005068.3(SIM1):c.*1369C>A	SNV	Uncertain significance	904642		6:100836868-100836868	6:100388992-100388992
23	SIM1	NM_005068.3(SIM1):c.*873T>C	SNV	Uncertain significance	905433		6:100837364-100837364	6:100389488-100389488
24	SIM1	NM_005068.3(SIM1):c.*775G>A	SNV	Uncertain significance	905434		6:100837462-100837462	6:100389586-100389586
25	SIM1	NM_005068.3(SIM1):c.*521A>G	SNV	Uncertain significance	905435		6:100837716-100837716	6:100389840-100389840
26	SIM1	NM_005068.3(SIM1):c.*128C>A	SNV	Uncertain significance	905950		6:100838109-100838109	6:100390233-100390233
27	SIM1	NM_005068.3(SIM1):c.*56A>C	SNV	Uncertain significance	908027		6:100838181-100838181	6:100390305-100390305
28	SIM1	NM_005068.3(SIM1):c.*15A>G	SNV	Uncertain significance	908028		6:100838222-100838222	6:100390346-100390346
29	SIM1	NM_005068.3(SIM1):c.2193C>T (p.Ser731=)	SNV	Uncertain significance	908029		6:100838345-100838345	6:100390469-100390469
30	SIM1	NM_005068.3(SIM1):c.2108G>A (p.Arg703Gln)	SNV	Uncertain significance	904716		6:100838430-100838430	6:100390554-100390554
31	SIM1	NM_005068.3(SIM1):c.2039C>T (p.Ser680Leu)	SNV	Uncertain significance	904717		6:100838499-100838499	6:100390623-100390623
32	SIM1	NM_005068.3(SIM1):c.1865C>T (p.Ser622Phe)	SNV	Uncertain significance	904719		6:100838673-100838673	6:100390797-100390797
33	SIM1	NM_005068.3(SIM1):c.1802A>G (p.Lys601Arg)	SNV	Uncertain significance	904720		6:100838736-100838736	6:100390860-100390860
34	SIM1	NM_005068.3(SIM1):c.1545C>T (p.His515=)	SNV	Uncertain significance	905503		6:100841388-100841388	6:100393512-100393512
35	SIM1	NM_005068.3(SIM1):c.1452C>G (p.Ala484=)	SNV	Uncertain significance	905504		6:100841481-100841481	6:100393605-100393605
36	SIM1	NM_005068.3(SIM1):c.1352T>A (p.Leu451His)	SNV	Uncertain significance	905505		6:100841581-100841581	6:100393705-100393705
37	SIM1	NM_005068.3(SIM1):c.1327A>G (p.Ser443Gly)	SNV	Uncertain significance	905506		6:100841606-100841606	6:100393730-100393730
38	SIM1	NM_005068.3(SIM1):c.1260G>C (p.Leu420=)	SNV	Uncertain significance	905507		6:100841673-100841673	6:100393797-100393797
39	SIM1	NM_005068.3(SIM1):c.1193C>T (p.Ser398Leu)	SNV	Uncertain significance	905508		6:100841740-100841740	6:100393864-100393864
40	SIM1	NM_005068.3(SIM1):c.1147A>G (p.Arg383Gly)	SNV	Uncertain significance	906016		6:100868686-100868686	6:100420810-100420810
41	SIM1	NM_005068.3(SIM1):c.1054C>T (p.Pro352Ser)	SNV	Uncertain significance	906017		6:100868779-100868779	6:100420903-100420903
42	SIM1	NM_005068.3(SIM1):c.994C>T (p.Leu332Phe)	SNV	Uncertain significance	906018		6:100895148-100895148	6:100447272-100447272
43	SIM1	NM_005068.3(SIM1):c.916T>C (p.Trp306Arg)	SNV	Uncertain significance	906019		6:100895226-100895226	6:100447350-100447350
44	SIM1	NM_005068.3(SIM1):c.628C>T (p.Leu210=)	SNV	Uncertain significance	907035		6:100896470-100896470	6:100448594-100448594
45	SIM1	NM_005068.3(SIM1):c.289C>A (p.Pro97Thr)	SNV	Uncertain significance	907036		6:100898202-100898202	6:100450326-100450326
46	SIM1	NM_005068.3(SIM1):c.264G>A (p.Leu88=)	SNV	Uncertain significance	904786		6:100898227-100898227	6:100450351-100450351
47	SIM1	NM_005068.3(SIM1):c.226G>A (p.Val76Ile)	SNV	Uncertain significance	904787		6:100901670-100901670	6:100453794-100453794
48	SIM1	NM_005068.3(SIM1):c.*1132A>C	SNV	Likely benign	904643		6:100837105-100837105	6:100389229-100389229
49	SIM1	NM_005068.2(SIM1):c.*183A>T	SNV	Likely benign	354671	rs145341368	6:100838054-100838054	6:100390178-100390178
50	SIM1	NM_005068.3(SIM1):c.*937C>A	SNV	Likely benign	905432		6:100837300-100837300	6:100389424-100389424

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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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