MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
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_000939.4(POMC):c.*120A>G5443POMCUncertain significancers886055853RCV000307847; RCV000364533; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225383830253838302:g.25383830T>C-CN239457 Monogenic Non-Syndromic Obesity;
NM_000939.4(POMC):c.*63C>T5443POMCLikely benignrs1042571RCV000272308; RCV000329597; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225383887253838872:g.25383887G>A-CN239457 Monogenic Non-Syndromic Obesity;
NM_000939.4(POMC):c.*28del5443POMCUncertain significancers756770132RCV000275874; RCV000367979; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225383922253839222:g.25383922_25383922del-
NM_000939.4(POMC):c.585C>T (p.Ala195=)5443POMCLikely benignrs2071345RCV000333276; RCV000371673; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225384169253841692:g.25384169G>A-
NM_000939.4(POMC):c.583G>A (p.Ala195Thr)5443POMCConflicting interpretations of pathogenicity-1RCV000986597; RCV000889361; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526; MedGen:CN517202225384171253841712:g.25384171C>T-
NM_000939.4(POMC):c.474G>T (p.Lys158Asn)5443POMCUncertain significancers373721473RCV000319956; RCV000279476; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225384280253842802:g.25384280C>A-
NM_000939.4(POMC):c.416dup (p.Tyr139Ter)5443POMCPathogenic-1RCV000825007; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225384337253843382:g.25384337_25384338insT-
NM_000939.4(POMC):c.280_288AGCAGCGGC[3] (p.94_96SSG[3])5443POMCBenign/Likely benignrs10654394RCV000284681; RCV000376949; RCV000194292; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526; MedGen:CN169374225384456253844572:g.25384456_25384457insGCCGCTGCT-
NM_000939.4(POMC):c.282C>T (p.Ser94=)5443POMCLikely benignrs28930368RCV000404440; RCV000341979; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225384472253844722:g.25384472G>A-
NM_000939.4(POMC):c.158A>G (p.Asp53Gly)5443POMCConflicting interpretations of pathogenicityrs28932470RCV000345346; RCV000288152; RCV000902149; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526; MedGen:CN517202225384596253845962:g.25384596T>C-
NM_000939.4(POMC):c.133-2A>C5443POMCPathogenicrs1553400259RCV000500140; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225384623253846232:g.25384623T>G-C1857854 609734 Proopiomelanocortin deficiency;
NM_000939.4(POMC):c.84C>A (p.Cys28Ter)5443POMCPathogenic-1RCV000825008; NMedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225387558253875582:g.25387558G>T-
NM_000939.4(POMC):c.18C>T (p.Cys6=)5443POMCConflicting interpretations of pathogenicityrs8192605RCV000394433; RCV000310805; RCV000948593; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526; MedGen:CN517202225387624253876242:g.25387624G>A-
NM_000939.4(POMC):c.4C>T (p.Pro2Ser)5443POMCUncertain significancers752925315RCV000399903; RCV000367787; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225387638253876382:g.25387638G>A-
NM_000939.4(POMC):c.-20-904T>C5443POMCUncertain significancers886055854RCV000314386; RCV000371122; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225388565253885652:g.25388565A>G-
NM_000939.4(POMC):c.-20-906C>T5443POMCUncertain significancers886055855RCV000260320; RCV000317819; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225388567253885672:g.25388567G>A-
NM_001035256.2(POMC):c.-203A>G5443POMCUncertain significancers139229417RCV000262838; RCV000356179; NMedGen:CN239457; MedGen:C1857854,OMIM:609734, Orphanet:ORPHA71526225391499253914992:g.25391499T>C-
MSeqDR Portal