MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Conjunctivitis (D003231)
Parent Node:
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Skin Diseases, Genetic (D012873)
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Plasminogen Deficiency, Type I (C566897)

       Child Nodes:



 Sister Nodes: 
..expandActinic Prurigo (C566780)
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..expandAmyloidosis IX (C562643)
..expandAmyloidosis, Cutaneous Bullous (C562644)
..expandAmyloidosis, Primary Cutaneous (C562642)
..expandAnnular Erythema (C562461)
..expandArterial Tortuosity Syndrome (C565942)
..expandAtrophia Maculosa Varioliformis Cutis, Familial (C563349)
..expandBasaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..expandBuschke-Ollendorff syndrome (C537415)
..expandCollagenosis, Familial Reactive Perforating (C565687)
..expandCutis Laxa (D003483) Child17
..expandDarier Disease (D007644) Child7
..expandDermatitis, Atopic (D003876) Child9
..expandDowling-Degos Disease (C562924)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..expandDyskeratosis Congenita (D019871) Child3
..expandEctodermal Dysplasia (D004476) Child144  LSDB C:1
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandErythrokeratodermia Variabilis (D056266) Child3
..expandErythrokeratodermia with ataxia (C535738)
..expandExfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..expandFingerprints, Absence of (C565010)
..expandFollicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..expandGerodermia osteodysplastica (C537799)
..expandHereditary Autoinflammatory Diseases (D056660) Child10
..expandHistiocytic Dermatoarthritis (C564183)
..expandHyalinosis, Systemic (D057770)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis, X-Linked (D016114) Child2
..expandIncontinentia Pigmenti (D007184) Child2
..expandJuvenile Spring Eruption of Ears (C566781)
..expandKeratoderma, Palmoplantar (D007645) Child45
..expandKeratolytic winter erythema (C536155)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandLeukokeratosis, Hereditary Mucosal (D053529)
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandLipoid Proteinosis of Urbach and Wiethe (D008065)
..expandMonilethrix (D056734) Child1
..expandMuir-Torre Syndrome (D055653)
..expandNetherton Syndrome (D056770)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOculotrichodysplasia (C564934)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOrofaciodigital syndrome 9 (C557818)
..expandOsseous Heteroplasia, Progressive (C562735)
..expandOsteopoikilosis, Isolated (C563484)
..expandParana Hard Skin Syndrome (C564905)
..expandPeeling Skin Syndrome (C564818)
..expandPemphigus, Benign Familial (D016506)
..expandPerifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPlasminogen Deficiency, Type I (C566897)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPorokeratosis (D017499) Child7
..expandPorphyria, Erythropoietic (D017092)
..expandPorphyrias, Hepatic (D017094) Child14
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSjogren-Larsson Syndrome (D016111) Child1
..expandSkin Fragility-Woolly Hair Syndrome (C564359)
..expandStiff Skin Syndrome (C566112)
..expandStorm Syndrome (C566109)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandVitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..expandVohwinkel Syndrome, Variant Form (C565826)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9913
Name:Plasminogen Deficiency, Type I
Definition:
Alternative IDs:OMIM:217090
ParentIDs:MESH:D003231|MESH:D012873
TreeNumbers:C11.187.183/C566897 |C16.320.850/C566897 |C17.800.827/C566897
Synonyms:Dysplasminogenemia |DYSPLASMINOGENEMIA, INCLUDED |Ligneous Conjunctivitis |LIGNEOUS CONJUNCTIVITIS, INCLUDED |PLASMINOGEN DEFICIENCY, TYPE II, INCLUDED
Slim Mappings:Eye disease|Genetic disease (inborn)|Skin disease
Reference: MedGen: C566897
MeSH: C566897
OMIM: 217090;
MSeqDR LSDB:  
Genes: PLG;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001939Abnormality of metabolism/homeostasis
4 HP:0000598Abnormality of the ear
NAMDC:  Otologic
5 HP:0001600Abnormality of the larynx
6 HP:0000951Abnormality of the skin
7 HP:0000618Blindness
8 HP:0001321Cerebellar hypoplasia
9 HP:0000509Conjunctivitis
10 HP:0001305Dandy-Walker malformation
11 HP:0002588Duodenal ulcer
12 HP:0000212Gingival overgrowth
13 HP:0000230Gingivitis
14 HP:0000238Hydrocephalus
15 HP:0000256Macrocephaly
16 HP:0000123NephritisHP:0040283
17 HP:0000787Nephrolithiasis
18 HP:0000704Periodontitis
19 HP:0002788Recurrent upper respiratory tract infections
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)5340PLGConflicting interpretations of pathogenicityrs73015965RCV000014551|RCV000725124|RCV000999694; NMedGen:C1968804,OMIM:217090, Orphanet:722|MedGen:CN517202|MONDO:MONDO:0008162,MedGen:C1833692,OMIM:1667606161127501161127501AG6:g.161127501A>GClinGen:CA123283,UniProtKB:P00747#VAR_018657,OMIM:173350.0010C1968804 217090 Plasminogen deficiency, type I;
NM_000301.5(PLG):c.266G>C (p.Arg89Thr)5340PLGUncertain significancers143079629RCV001334374; NMedGen:C1968804,OMIM:217090, Orphanet:7226161128812161128812GC161128812-
NM_000301.5(PLG):c.330C>T (p.Asn110=)5340PLGBenign-1RCV001641591|RCV001789460|RCV001789461; NMedGen:CN517202|MedGen:C1968804,OMIM:217090, Orphanet:722|MONDO:MONDO:0025712,MedGen:CN300367,OMIM:6193606161132146161132146CT161132146-
NM_000301.5(PLG):c.466G>A (p.Asp156Asn)5340PLGUncertain significancers756533019RCV001331145; NMedGen:C1968804,OMIM:217090, Orphanet:7226161134076161134076GA161134076-
NM_000301.5(PLG):c.687GAA[2] (p.Lys231del)5340PLGPathogenicrs121918034RCV000014549; NMedGen:C1968804,OMIM:217090, Orphanet:7226161137695161137697TGAAT6:g.161137695_161137697delClinGen:CA123279,OMIM:173350.0008C1968804 217090 Plasminogen deficiency, type I;
NM_000301.5(PLG):c.704G>A (p.Arg235His)5340PLGPathogenicrs121918030RCV000014545; NMedGen:C1968804,OMIM:217090, Orphanet:7226161137712161137712GA6:g.161137712G>AClinGen:CA123269,UniProtKB:P00747#VAR_018659,OMIM:173350.0004C1968804 217090 Plasminogen deficiency, type I;
NM_000301.5(PLG):c.771T>C (p.Cys257=)5340PLGBenign-1RCV001529976|RCV001685435|RCV001789421|RCV001789422; NMedGen:CN169374|MedGen:CN517202|MedGen:C1968804,OMIM:217090, Orphanet:722|MONDO:MONDO:0025712,MedGen:CN300367,OMIM:6193606161137779161137779TC161137779-
NM_000301.5(PLG):c.886T>G (p.Cys296Gly)5340PLGPathogenicrs1777777927RCV001030447; NMedGen:C1968804,OMIM:217090, Orphanet:7226161139424161139424TG6:g.161139424T>G-
NM_000301.5(PLG):c.942C>T (p.Phe314=)5340PLGBenign-1RCV001528870|RCV001673118|RCV001789419|RCV001789420; NMedGen:CN169374|MedGen:CN517202|MedGen:C1968804,OMIM:217090, Orphanet:722|MONDO:MONDO:0025712,MedGen:CN300367,OMIM:6193606161139480161139480CT161139480-
NM_000301.5(PLG):c.950+4A>G5340PLGUncertain significancers1582937995RCV000851913; NMedGen:C1968804,OMIM:217090, Orphanet:7226161139492161139492AG6:g.161139492A>G-
NM_000301.5(PLG):c.950+14G>A5340PLGBenign-1RCV001528313|RCV001712959|RCV001789417|RCV001789418; NMedGen:CN169374|MedGen:CN517202|MedGen:C1968804,OMIM:217090, Orphanet:722|MONDO:MONDO:0025712,MedGen:CN300367,OMIM:6193606161139502161139502GA161139502-
NM_000301.5(PLG):c.1217C>A (p.Pro406Gln)5340PLGUncertain significancers1582940083RCV000851672; NMedGen:C1968804,OMIM:217090, Orphanet:7226161143560161143560CA6:g.161143560C>A-
NM_000301.5(PLG):c.1435G>T (p.Glu479Ter)5340PLGPathogenicrs121918032RCV000014547; NMedGen:C1968804,OMIM:217090, Orphanet:7226161152261161152261GT6:g.161152261G>TClinGen:CA123274,OMIM:173350.0006C1968804 217090 Plasminogen deficiency, type I;
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln)5340PLGUncertain significancers140537724RCV000625418|RCV001270566|RCV001579765; NMedGen:C1968804,OMIM:217090, Orphanet:722|Human Phenotype Ontology:HP:0001892,Human Phenotype Ontology:HP:0004830,Human Phenotype Ontology:HP:0004834,Human Phenotype Ontology:HP:0004849,Human Phenotype Ontology:HP:0004862,Human Phenotype Ontology:HP:00046161152807161152807GA6:g.161152807G>AClinGen:CA4087798C1968804 217090 Plasminogen deficiency, type I;
NM_000301.5(PLG):c.1848G>A (p.Trp616Ter)5340PLGPathogenicrs121918031RCV000014546; NMedGen:C1968804,OMIM:217090, Orphanet:7226161159615161159615GA6:g.161159615G>AClinGen:CA123271,OMIM:173350.0005C1968804 217090 Plasminogen deficiency, type I;
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr)5340PLGConflicting interpretations of pathogenicityrs121918027RCV000014542|RCV000490289; NMedGen:C4225445|MedGen:C1968804,OMIM:217090, Orphanet:7226161159625161159625GA6:g.161159625G>AClinGen:CA123263,UniProtKB:P00747#VAR_006629,OMIM:173350.0001C0521808 Dysplasminogenemia;
NM_000301.5(PLG):c.1878-17G>A5340PLGBenign-1RCV001674878|RCV001789504|RCV001789503; NMedGen:CN517202|MONDO:MONDO:0025712,MedGen:CN300367,OMIM:619360|MedGen:C1968804,OMIM:217090, Orphanet:7226161160083161160083GA161160083-
NM_000301.5(PLG):c.2019-1G>A5340PLGLikely pathogenic-1RCV001535942; NMedGen:C1968804,OMIM:217090, Orphanet:7226161162342161162342GA161162342-
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)5340PLGUncertain significancers147175166RCV000999697|RCV001331144; NMONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760|MedGen:C1968804,OMIM:217090, Orphanet:7226161162369161162369TA6:g.161162369T>A-
NM_000301.5(PLG):c.2125+1del5340PLGPathogenicrs606231210RCV000014550; NMedGen:C1968804,OMIM:217090, Orphanet:7226161162449161162449AGA6:g.161162449_161162449delClinGen:CA123282,OMIM:173350.0009
NM_000301.5(PLG):c.2263A>G (p.Ser755Gly)5340PLGUncertain significancers1778416234RCV001196143; NMedGen:C1968804,OMIM:217090, Orphanet:7226161173284161173284AG6:g.161173284A>G-
NM_000301.5(PLG):c.2278A>G (p.Ser760Gly)5340PLGUncertain significancers1582955692RCV000852082; NMedGen:C1968804,OMIM:217090, Orphanet:7226161173938161173938AG6:g.161173938A>G-
NM_000301.5(PLG):c.2286T>G (p.Gly762=)5340PLGBenign-1RCV001645341|RCV001789456|RCV001789455; NMedGen:CN517202|MONDO:MONDO:0025712,MedGen:CN300367,OMIM:619360|MedGen:C1968804,OMIM:217090, Orphanet:7226161173946161173946TG161173946-
NM_000301.5(PLG):c.*45A>G5340PLGBenign-1RCV001649467|RCV001789472|RCV001789473; NMedGen:CN517202|MedGen:C1968804,OMIM:217090, Orphanet:722|MONDO:MONDO:0025712,MedGen:CN300367,OMIM:6193606161174138161174138AG161174138-
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