MCID: OBS060
MIFTS: 17

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 6

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 global developmental delay and obesity

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 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%)

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

ClinVar genetic disease variations for Obesity Due to Sim1 Deficiency:

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# 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>CSNV Uncertain significance 354668 rs537039330 6:100837787-100837787 6:100389911-100389911
6 SIM1 NM_005068.2(SIM1):c.*99G>ASNV 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>TSNV Uncertain significance 354664 rs886060893 6:100836959-100836959 6:100389083-100389083
10 SIM1 NM_005068.2(SIM1):c.*1125T>CSNV 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>CSNV Uncertain significance 354687 rs886060898 6:100911402-100911402 6:100463526-100463526
14 SIM1 NM_005068.2(SIM1):c.-181T>ASNV Uncertain significance 354689 rs886060899 6:100911525-100911525 6:100463649-100463649
15 SIM1 NM_005068.2(SIM1):c.*1331T>CSNV Uncertain significance 354663 rs554615450 6:100836906-100836906 6:100389030-100389030
16 SIM1 NM_005068.2(SIM1):c.*583G>CSNV Uncertain significance 354667 rs776246157 6:100837654-100837654 6:100389778-100389778
17 SIM1 NM_005068.2(SIM1):c.*589G>ASNV 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>ASNV Uncertain significance 904642 6:100836868-100836868 6:100388992-100388992
23 SIM1 NM_005068.3(SIM1):c.*873T>CSNV Uncertain significance 905433 6:100837364-100837364 6:100389488-100389488
24 SIM1 NM_005068.3(SIM1):c.*775G>ASNV Uncertain significance 905434 6:100837462-100837462 6:100389586-100389586
25 SIM1 NM_005068.3(SIM1):c.*521A>GSNV Uncertain significance 905435 6:100837716-100837716 6:100389840-100389840
26 SIM1 NM_005068.3(SIM1):c.*128C>ASNV Uncertain significance 905950 6:100838109-100838109 6:100390233-100390233
27 SIM1 NM_005068.3(SIM1):c.*56A>CSNV Uncertain significance 908027 6:100838181-100838181 6:100390305-100390305
28 SIM1 NM_005068.3(SIM1):c.*15A>GSNV 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>CSNV Likely benign 904643 6:100837105-100837105 6:100389229-100389229
49 SIM1 NM_005068.2(SIM1):c.*183A>TSNV Likely benign 354671 rs145341368 6:100838054-100838054 6:100390178-100390178
50 SIM1 NM_005068.3(SIM1):c.*937C>ASNV Likely benign 905432 6:100837300-100837300 6:100389424-100389424

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

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57 OMIM via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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