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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Conjunctivitis (D003231)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Plasminogen Deficiency, Type I (C566897)
Child Nodes:
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8989

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

Slim Mappings:

Eye disease|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C566897
MeSH: C566897
OMIM: 217090;

Genes: PLG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0000598	Abnormality of the ear
5	HP:0001600	Abnormality of the larynx
6	HP:0000951	Abnormality of the skin
7	HP:0000618	Blindness
8	HP:0001321	Cerebellar hypoplasia
9	HP:0000509	Conjunctivitis
10	HP:0001305	Dandy-Walker malformation
11	HP:0002588	Duodenal ulcer
12	HP:0000212	Gingival overgrowth
13	HP:0000230	Gingivitis
14	HP:0000238	Hydrocephalus
15	HP:0000256	Macrocephaly
16	HP:0000123	Nephritis	HP:0040283
17	HP:0000787	Nephrolithiasis
18	HP:0000704	Periodontitis
19	HP:0002788	Recurrent upper respiratory tract infections

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000301.3(PLG):c.112A>G (p.Lys38Glu)	5340	PLG	Pathogenic	73015965	RCV000014551;	N	MedGen:C1968804,OMIM:217090	6	161127501	161127501	NM_000301.3:c.112A>G	NP_000292.1:p.Lys38Glu	NC_000006.11:g.161127501A>G	OMIM Allelic Variant:173350.0010	C1968804 217090 Plasminogen deficiency, type I
NM_000301.3(PLG):c.691_693delAAG (p.Lys231del)	5340	PLG	Pathogenic	121918034	RCV000014549;	N	MedGen:C1968804,OMIM:217090	6	161137699	161137701	NM_000301.3:c.691_693delAAG	NP_000292.1:p.Lys231del	NC_000006.11:g.161137699_161137701delAAG	OMIM Allelic Variant:173350.0008	C1968804 217090 Plasminogen deficiency, type I
NM_000301.3(PLG):c.704G>A (p.Arg235His)	5340	PLG	Pathogenic	121918030	RCV000014545;	N	MedGen:C1968804,OMIM:217090	6	161137712	161137712	NM_000301.3:c.704G>A	NP_000292.1:p.Arg235His	NC_000006.11:g.161137712G>A	OMIM Allelic Variant:173350.0004	C1968804 217090 Plasminogen deficiency, type I
NM_000301.3(PLG):c.1435G>T (p.Glu479Ter)	5340	PLG	Pathogenic	121918032	RCV000014547;	N	MedGen:C1968804,OMIM:217090	6	161152261	161152261	NM_000301.3:c.1435G>T	NP_000292.1:p.Glu479Ter	NC_000006.11:g.161152261G>T	OMIM Allelic Variant:173350.0006	C1968804 217090 Plasminogen deficiency, type I
NM_000301.3(PLG):c.1848G>A (p.Trp616Ter)	5340	PLG	Pathogenic	121918031	RCV000014546;	N	MedGen:C1968804,OMIM:217090	6	161159615	161159615	NM_000301.3:c.1848G>A	NP_000292.1:p.Trp616Ter	NC_000006.11:g.161159615G>A	OMIM Allelic Variant:173350.0005	C1968804 217090 Plasminogen deficiency, type I
NM_000301.3(PLG):c.2125+1delG	5340	PLG	Pathogenic	606231210	RCV000014550;	N	MedGen:C1968804,OMIM:217090	6	161162450	161162450	NM_000301.3:c.2125+1delG		NC_000006.11:g.161162450delG	OMIM Allelic Variant:173350.0009	C1968804 217090 Plasminogen deficiency, type I