MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Adrenal Insufficiency (D000309)
Parent Node:
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Obesity (D009765)
..Starting node
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Proopiomelanocortin Deficiency (C565726)

       Child Nodes:



 Sister Nodes: 
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..expandAyazi syndrome (C537793)
..expandBiemond syndrome II (C565902)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 (OMIM:300306)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 (OMIM:612459)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18 (OMIM:615457)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 (OMIM:608410)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 (OMIM:603188)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandCamera Marugo Cohen syndrome (C537964)
..expandCHOPS SYNDROME (OMIM:616368)
..expandClark-Baraitser syndrome (C536208)
..expandCohen syndrome (C536438)
..expandColoboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..expandFASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:606035)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMEHMO syndrome (C537451)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMOMES Syndrome (C564660)
..expandMORM syndrome (C536984)
..expandObesity Hypoventilation Syndrome (D010845)
..expandObesity, Abdominal (D056128)
..expandObesity, Hyperphagia, and Developmental Delay (C563938)
..expandObesity, Metabolically Benign (D000067329)
..expandObesity, Morbid (D009767)
..expandPediatric Obesity (D063766)
..expandPrader-Willi Syndrome (D011218) Child2
..expandProlactin Deficiency with Obesity and Enlarged Testes (C564870)
..expandProopiomelanocortin Deficiency (C565726)
..expandProprotein Convertase 1 3 Deficiency (C563423)
..expandRETINAL DYSTROPHY AND OBESITY (OMIM:616188)
..expandShort Stature-Obesity Syndrome (C564821)
..expandVasquez Hurst Sotos syndrome (C536533)
..expandWilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
..expandWilson-Turner X-linked mental retardation syndrome (C536708)
..expandYoung Hughes syndrome (C536715)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10281
Name:Proopiomelanocortin Deficiency
Definition:
Alternative IDs:OMIM:609734
ParentIDs:MESH:D000309|MESH:D009765
TreeNumbers:C18.654.726.500/C565726 |C19.053.500/C565726 |C23.888.144.699.500/C565726
Synonyms:OBAIRH |Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair |OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR |PROOPIOMELANOCORTIN DEFICIENCY
Slim Mappings:Endocrine system disease|Nutrition disorder|Signs and symptoms
Reference: MedGen: C565726
MeSH: C565726
OMIM: 609734;
MSeqDR LSDB:  
Genes: POMC;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000846Adrenal insufficiency
3 HP:0011748Adrenocorticotropic hormone deficiency
4 HP:0001396Cholestasis
5 HP:0002173Hypoglycemic seizures
6 HP:0001513Obesity
7 HP:0002297Red hair
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001035256.2(POMC):c.*120A>G5443POMCUncertain significance886055853RCV000307847; RCV000364533; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538383025383830-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.*63C>T5443POMCLikely benign1042571RCV000272308; RCV000329597; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538388725383887-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.*28del5443POMCUncertain significance756770132RCV000275874; RCV000367979; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538392225383922-
NM_001035256.2(POMC):c.585C>T (p.Ala195=)5443POMCLikely benign2071345RCV000333276; RCV000371673; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538416925384169-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.474G>T (p.Lys158Asn)5443POMCUncertain significance373721473RCV000319956; RCV000279476; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538428025384280-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.433delC (p.Arg145Alafs)5443POMCPathogenic796065034RCV000014282; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538432125384321OMIM Allelic Variant:176830.0002C1857854 609734 Proopiomelanocortin deficiency;
NM_001035256.2(POMC):c.403_404dup (p.Lys136Alafs)5443POMCPathogenic796065035RCV000014285; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538435025384351NC_000002.11:g.25384350_25384351dupCCOMIM Allelic Variant:176830.0005C1857854 609734 Proopiomelanocortin deficiency;
NM_001035256.2(POMC):c.313G>T (p.Glu105Ter)5443POMCPathogenic121918111RCV000014281; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538444125384441OMIM Allelic Variant:176830.0001C1857854 609734 Proopiomelanocortin deficiency;
NM_001035256.2(POMC):c.289_297dup (p.Gly99_Ala100insSerSerGly)5443POMCBenign/Likely benign10654394RCV000284681; RCV000376949; RCV000194292; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526; MedGen:CN16937422538445725384465NC_000002.11:g.25384457_25384465dupGCCGCTGCT-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.282C>T (p.Ser94=)5443POMCLikely benign28930368RCV000404440; RCV000341979; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538447225384472-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.158A>G (p.Asp53Gly)5443POMCUncertain significance28932470RCV000345346; RCV000288152; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538459625384596-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.151A>T (p.Lys51Ter)5443POMCPathogenic121918112RCV000014286; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538460325384603OMIM Allelic Variant:176830.0006C1857854 609734 Proopiomelanocortin deficiency;
NM_001035256.2(POMC):c.133-2A>C5443POMCPathogenic1553400259RCV000500140; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538462325384623-C1857854 609734 Proopiomelanocortin deficiency;
NM_001035256.2(POMC):c.18C>T (p.Cys6=)5443POMCUncertain significance8192605RCV000394433; RCV000310805; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538762425387624-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.4C>T (p.Pro2Ser)5443POMCUncertain significance752925315RCV000399903; RCV000367787; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538763825387638-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.-11C>A5443POMCPathogenic753856820RCV000014283; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538765225387652OMIM Allelic Variant:176830.0003C1857854 609734 Proopiomelanocortin deficiency;
NM_001035256.2(POMC):c.-70-11T>C5443POMCUncertain significance886055854RCV000314386; RCV000371122; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538856525388565-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.-70-13C>T5443POMCUncertain significance886055855RCV000260320; RCV000317819; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622538856725388567-CN239457 Monogenic Non-Syndromic Obesity;
NM_001035256.2(POMC):c.-203A>G5443POMCUncertain significance139229417RCV000262838; RCV000356179; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA7152622539149925391499-CN239457 Monogenic Non-Syndromic Obesity;
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