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Porphyrias (D011164)
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Skin Diseases, Genetic (D012873)
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Porphyria, Erythropoietic (D017092)

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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10088
Name:Porphyria, Erythropoietic
Definition:An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
Alternative IDs:DO:DOID:13271|OMIM:263700
ParentIDs:MESH:D011164|MESH:D012873
TreeNumbers:C16.320.850.738 |C17.800.827.738 |C18.452.811.250
Synonyms:CEP |Congenital Erythropoietic Porphyria |Congenital Erythropoietic Porphyrias |Deficiency of Uroporphyrinogen III Synthase |Erythropoietic Porphyria |Erythropoietic Porphyria, Congenital |Erythropoietic Porphyrias |Erythropoietic Porphyrias, Congenital |Gunther
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: D017092
MeSH: D017092
OMIM: 263700;
MSeqDR LSDB:  
Genes: UROS;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0000153Abnormality of the mouth
4 HP:0002223Absent eyebrow
5 HP:0001596Alopecia
6 HP:0000987Atypical scarring of skin
7 HP:0001081Cholelithiasis
8 HP:0000509Conjunctivitis
9 HP:0000559Corneal scarring
10 HP:0000992Cutaneous photosensitivity
11 HP:0001878Hemolytic anemia
12 HP:0000953Hyperpigmentation of the skin
13 HP:0000998Hypertrichosis
14 HP:0001010Hypopigmentation of the skin
15 HP:0009473Joint contracture of the hand
16 HP:0011457Loss of eyelashes
17 HP:0002797Osteolysis
18 HP:0000938Osteopenia
19 HP:0002756Pathologic fracture
20 HP:0100324Scleroderma
21 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
22 HP:0001744Splenomegaly
23 HP:0001873Thrombocytopenia
24 HP:0002953Vertebral compression fractures
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)2623GATA1Pathogenicrs387907207RCV000024620|RCV001542264|RCV001725115; NMONDO:MONDO:0010745,MedGen:C1839161,OMIM:314050, Orphanet:231393|MONDO:MONDO:0010308,MedGen:C3550789,OMIM:300367, Orphanet:67044|MONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:79277X4865077748650777CTX:g.48650777C>TOMIM:305371.0010,ClinGen:CA342811C1839161 314050 Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis;
NM_000375.3(UROS):c.*178G>A7390UROSUncertain significancers569628154RCV000364156; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477259127477259CT10:g.127477259C>TClinGen:CA10631186
NM_000375.3(UROS):c.*99A>G7390UROSUncertain significancers886046814RCV000272394; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477338127477338TC10:g.127477338T>CClinGen:CA10634920
NM_000375.3(UROS):c.*96G>A7390UROSLikely benignrs182303293RCV001103415; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477341127477341CT10:g.127477341C>T-
NM_000375.3(UROS):c.*92T>G7390UROSUncertain significancers887568142RCV001105341; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477345127477345AC10:g.127477345A>C-
NM_000375.3(UROS):c.*56T>C7390UROSUncertain significancers1436191296RCV001105342; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477381127477381AG10:g.127477381A>G-
NM_000375.3(UROS):c.*37G>T7390UROSBenignrs372132511RCV000329744; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477400127477400CA10:g.127477400C>AClinGen:CA5738292
NM_000375.3(UROS):c.*24A>G7390UROSUncertain significancers760003189RCV000386715; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477413127477413TC10:g.127477413T>CClinGen:CA5738296
NM_000375.3(UROS):c.743C>A (p.Pro248Gln)7390UROSPathogenicrs121908021RCV000003967; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477492127477492GT10:g.127477492G>TClinGen:CA252876,UniProtKB:P10746#VAR_066247,OMIM:606938.0020C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.740C>T (p.Thr247Met)7390UROSLikely benignrs199925121RCV001105343; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477495127477495GA10:g.127477495G>A-
NM_000375.3(UROS):c.691G>A (p.Ala231Thr)7390UROSUncertain significancers780837512RCV000294761; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477544127477544CT10:g.127477544C>TClinGen:CA5738323
NM_000375.3(UROS):c.683C>T (p.Thr228Met)7390UROSPathogenicrs121908014RCV000003952; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477552127477552GA10:g.127477552G>AOMIM:606938.0005,ClinGen:CA252866,UniProtKB:P10746#VAR_003685C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)7390UROSPathogenicrs121908020RCV000003964; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477562127477562CT10:g.127477562C>TUniProtKB:P10746#VAR_003684,OMIM:606938.0017,ClinGen:CA340125C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.661-31T>G7390UROSPathogenicrs750180293RCV000023601; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127477605127477605AC10:g.127477605A>COMIM:606938.0021C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.562G>A (p.Gly188Arg)7390UROSPathogenicrs121908017RCV000003957; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127483547127483547CT10:g.127483547C>TClinGen:CA252869,UniProtKB:P10746#VAR_013558,OMIM:606938.0010C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.562G>T (p.Gly188Trp)7390UROSPathogenicrs121908017RCV000003959; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127483547127483547CA10:g.127483547C>AClinGen:CA252872,UniProtKB:P10746#VAR_021619,OMIM:606938.0012C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.512T>C (p.Val171Ala)7390UROSUncertain significancers17173752RCV000371466|RCV001357209; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:79277|MedGen:CN51720210127484721127484721AG10:g.127484721A>GClinGen:CA5738415
NM_000375.3(UROS):c.512T>G (p.Val171Gly)7390UROSBenignrs17173752RCV000333133; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127484721127484721AC10:g.127484721A>CClinGen:CA5738414,UniProtKB:P10746#VAR_049346
NM_000375.3(UROS):c.475+14T>A7390UROSUncertain significancers17425877RCV000279431; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127486620127486620AT10:g.127486620A>TClinGen:CA5738440
NM_000375.3(UROS):c.395-1dup7390UROSPathogenicrs796051859RCV000003966; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127486711127486712TTC10:g.127486711_127486712insCClinGen:CA252875,OMIM:606938.0019C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.338A>T (p.Asp113Val)7390UROSBenignrs117926090RCV000336761|RCV000952686; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:79277|MedGen:CN51720210127496038127496038TA10:g.127496038T>AClinGen:CA5738510
NM_000375.3(UROS):c.327A>C (p.Lys109Asn)7390UROSUncertain significancers369561042RCV000400305|RCV001357032; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:79277|MedGen:CN51720210127496049127496049TG10:g.127496049T>GClinGen:CA5738513
NM_000375.3(UROS):c.311C>T (p.Ala104Val)7390UROSPathogenicrs397515528RCV000055809; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127500791127500791GA10:g.127500791G>AClinGen:CA344926,UniProtKB:P10746#VAR_003682C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.251A>C (p.Glu84Ala)7390UROSUncertain significancers763606042RCV000283148; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127500851127500851TG10:g.127500851T>GClinGen:CA5738534
NM_000375.3(UROS):c.244G>T (p.Val82Phe)7390UROSUncertain significancers121908016RCV000003956; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127503603127503603CA10:g.127503603C>AClinGen:CA340120,OMIM:606938.0009C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.243A>T (p.Glu81Asp)7390UROSPathogenicrs121908018RCV000003958; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127503604127503604TA10:g.127503604T>AClinGen:CA252870,OMIM:606938.0011C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)7390UROSPathogenicrs121908012RCV000003948|RCV000726590; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:79277|MedGen:CN51720210127503630127503630AG10:g.127503630A>GClinGen:CA340118,UniProtKB:P10746#VAR_003679,OMIM:606938.0001C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.197C>T (p.Ala66Val)7390UROSPathogenicrs28941774RCV000003950; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127503650127503650GA10:g.127503650G>AClinGen:CA340119,UniProtKB:P10746#VAR_003678,OMIM:606938.0003C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.184A>G (p.Thr62Ala)7390UROSPathogenicrs28941775RCV000003951; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127503663127503663TC10:g.127503663T>CClinGen:CA252865,UniProtKB:P10746#VAR_003677,OMIM:606938.0004C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.169G>A (p.Gly57Arg)7390UROSUncertain significancers200322717RCV001106468; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127503678127503678CT10:g.127503678C>T-
NM_000375.3(UROS):c.158C>T (p.Pro53Leu)7390UROSPathogenicrs121908013RCV000003949; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127503689127503689GA10:g.127503689G>AClinGen:CA252864,UniProtKB:P10746#VAR_003676,OMIM:606938.0002C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.139T>C (p.Ser47Pro)7390UROSPathogenicrs397515527RCV000055808; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127504754127504754AG10:g.127504754A>GClinGen:CA344925,UniProtKB:P10746#VAR_021616C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.106T>G (p.Leu36Val)7390UROSUncertain significancers200858139RCV001106469; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127504787127504787AC10:g.127504787A>C-
NM_000375.3(UROS):c.63+8G>A7390UROSConflicting interpretations of pathogenicityrs17153575RCV000886009|RCV001106470; NMedGen:CN517202|MONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127504998127504998CT10:g.127504998C>T-
NM_000375.3(UROS):c.63+1G>A7390UROSPathogenicrs373864821RCV000003965; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127505005127505005CT10:g.127505005C>TClinGen:CA252874,OMIM:606938.0018
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys)7390UROSPathogenicrs1590007244RCV000856826; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127505013127505013TC10:g.127505013T>C-
NM_000375.3(UROS):c.53C>T (p.Pro18Leu)7390UROSUncertain significancers766540245RCV001106471; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127505016127505016GA10:g.127505016G>A-
NM_000375.3(UROS):c.27G>A (p.Ala9=)7390UROSBenign/Likely benignrs150059279RCV000305562|RCV001514806; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:79277|MedGen:CN51720210127505042127505042CT10:g.127505042C>TClinGen:CA5738606
NM_000375.3(UROS):c.10C>T (p.Leu4Phe)7390UROSPathogenicrs121908015RCV000003953; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127505059127505059GA10:g.127505059G>AClinGen:CA252867,UniProtKB:P10746#VAR_003674,OMIM:606938.0006C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.-26-183G>A7390UROSPathogenicrs397515349RCV000003961; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127505277127505277CT10:g.127505277C>TClinGen:CA340122,OMIM:606938.0014C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.-26-193C>A7390UROSPathogenicrs397515350RCV000003962; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127505287127505287GT10:g.127505287G>TClinGen:CA340123,OMIM:606938.0015C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.-26-197C>A7390UROSPathogenicrs397515351RCV000003963; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127505291127505291GT10:g.127505291G>TClinGen:CA340124,OMIM:606938.0016C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.-27+10G>A7390UROSLikely benignrs376517536RCV000362558; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511588127511588CT10:g.127511588C>TClinGen:CA10631189
NM_000375.3(UROS):c.-31G>T7390UROSLikely benignrs73381212RCV000391553; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511602127511602CA10:g.127511602C>AClinGen:CA10631190
NM_000375.3(UROS):c.-134C>A7390UROSUncertain significancers985442867RCV001108666; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511705127511705GT10:g.127511705G>T-
NM_000375.3(UROS):c.-136C>T7390UROSBenignrs539482783RCV000309126; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511707127511707GA10:g.127511707G>AClinGen:CA10631191
NM_000375.3(UROS):c.-185G>A7390UROSBenignrs4256900RCV000366176; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511756127511756CT10:g.127511756C>TClinGen:CA10635217
NM_000375.3(UROS):c.-195C>A7390UROSUncertain significancers1227442865RCV001108667; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511766127511766GT10:g.127511766G>T-
NM_000375.3(UROS):c.-203T>C7390UROSPathogenicrs1554891988RCV000003960; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511774127511774AG10:g.127511774A>GClinGen:CA340121,OMIM:606938.0013C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.-219C>A7390UROSBenignrs4385801RCV000210862; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511790127511790GT10:g.127511790G>TClinGen:CA10576008C0162530 263700 Congenital erythropoietic porphyria;
NM_000375.3(UROS):c.-224C>T7390UROSUncertain significancers1854170338RCV001103509; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511795127511795GA10:g.127511795G>A-
NM_000375.3(UROS):c.-232G>A7390UROSUncertain significancers886046815RCV000318394; NMONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700, Orphanet:7927710127511803127511803CT10:g.127511803C>TClinGen:CA10628193C0162530 263700 Congenital erythropoietic porphyria;
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