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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

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

Disease Browser
Parent Node: Porphyrias (D011164)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Porphyria, Erythropoietic (D017092)
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:

9150

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:

OMIM:263700

ParentIDs:

MESH:D011164|MESH:D012873

TreeNumbers:

C16.320.565.708.250 |C16.320.850.738 |C17.800.827.738 |C17.800.849.617.250 |C18.452.648.708.250 |C18.452.811.250 |C18.452.880.617.250

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Skin disease

Reference:

MedGen: D017092
MeSH: D017092
OMIM: 263700;

Genes: UROS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0000153	Abnormality of the mouth
4	HP:0002223	Absent eyebrow
5	HP:0001596	Alopecia
6	HP:0000987	Atypical scarring of skin
7	HP:0001081	Cholelithiasis
8	HP:0000509	Conjunctivitis
9	HP:0000559	Corneal scarring
10	HP:0000992	Cutaneous photosensitivity
11	HP:0001878	Hemolytic anemia
12	HP:0000953	Hyperpigmentation of the skin
13	HP:0000998	Hypertrichosis
14	HP:0001010	Hypopigmentation of the skin
15	HP:0009473	Joint contracture of the hand
16	HP:0011457	Loss of eyelashes
17	HP:0002797	Osteolysis
18	HP:0000938	Osteopenia
19	HP:0002756	Pathologic fracture
20	HP:0100324	Scleroderma
21	HP:0004322	Short stature
22	HP:0001744	Splenomegaly
23	HP:0001873	Thrombocytopenia
24	HP:0002953	Vertebral compression fracture

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_000375.2(UROS):c.743C>A (p.Pro248Gln)	7390	UROS	Pathogenic	121908021	RCV000003967;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127477492	127477492	NM_000375.2:c.743C>A	NP_000366.1:p.Pro248Gln	NC_000010.10:g.127477492G>T	OMIM Allelic Variant:606938.0020	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.683C>T (p.Thr228Met)	7390	UROS	Pathogenic	121908014	RCV000003952;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127477552	127477552	NM_000375.2:c.683C>T	NP_000366.1:p.Thr228Met	NC_000010.10:g.127477552G>A	OMIM Allelic Variant:606938.0005	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.673G>A (p.Gly225Ser)	7390	UROS	Pathogenic	121908020	RCV000003964;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127477562	127477562	NM_000375.2:c.673G>A	NP_000366.1:p.Gly225Ser	NC_000010.10:g.127477562C>T	OMIM Allelic Variant:606938.0017	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.562G>A (p.Gly188Arg)	7390	UROS	Pathogenic	121908017	RCV000003957;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127483547	127483547	NM_000375.2:c.562G>A	NP_000366.1:p.Gly188Arg	NC_000010.10:g.127483547C>A,NC_000010.10:g.127483547C>T	OMIM Allelic Variant:606938.0010	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.562G>T (p.Gly188Trp)	7390	UROS	Pathogenic	121908017	RCV000003959;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127483547	127483547	NM_000375.2:c.562G>T	NP_000366.1:p.Gly188Trp	NC_000010.10:g.127483547C>A,NC_000010.10:g.127483547C>T	OMIM Allelic Variant:606938.0012	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.397dupG (p.Glu133Glyfs)	7390	UROS	Pathogenic	796051859	RCV000003966;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127486712	127486712	NM_000375.2:c.397dupG	NP_000366.1:p.Glu133Glyfs	NC_000010.10:g.127486712dupC	OMIM Allelic Variant:606938.0019	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.311C>T (p.Ala104Val)	7390	UROS	Pathogenic	397515528	RCV000055809;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127500791	127500791	NM_000375.2:c.311C>T	NP_000366.1:p.Ala104Val	NC_000010.10:g.127500791G>A	-	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.244G>T (p.Val82Phe)	7390	UROS	Pathogenic	121908016	RCV000003956;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127503603	127503603	NM_000375.2:c.244G>T	NP_000366.1:p.Val82Phe	NC_000010.10:g.127503603C>A	OMIM Allelic Variant:606938.0009	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.243A>T (p.Glu81Asp)	7390	UROS	Pathogenic	121908018	RCV000003958;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127503604	127503604	NM_000375.2:c.243A>T	NP_000366.1:p.Glu81Asp	NC_000010.10:g.127503604T>A	OMIM Allelic Variant:606938.0011	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.217T>C (p.Cys73Arg)	7390	UROS	Pathogenic	121908012	RCV000003948;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127503630	127503630	NM_000375.2:c.217T>C	NP_000366.1:p.Cys73Arg	NC_000010.10:g.127503630A>G	OMIM Allelic Variant:606938.0001	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.197C>T (p.Ala66Val)	7390	UROS	Pathogenic	28941774	RCV000003950;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127503650	127503650	NM_000375.2:c.197C>T	NP_000366.1:p.Ala66Val	NC_000010.10:g.127503650G>A	OMIM Allelic Variant:606938.0003	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.184A>G (p.Thr62Ala)	7390	UROS	Pathogenic	28941775	RCV000003951;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127503663	127503663	NM_000375.2:c.184A>G	NP_000366.1:p.Thr62Ala	NC_000010.10:g.127503663T>C	OMIM Allelic Variant:606938.0004	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.158C>T (p.Pro53Leu)	7390	UROS	Pathogenic	121908013	RCV000003949;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127503689	127503689	NM_000375.2:c.158C>T	NP_000366.1:p.Pro53Leu	NC_000010.10:g.127503689G>A	OMIM Allelic Variant:606938.0002	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.139T>C (p.Ser47Pro)	7390	UROS	Pathogenic	397515527	RCV000055808;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127504754	127504754	NM_000375.2:c.139T>C	NP_000366.1:p.Ser47Pro	NC_000010.10:g.127504754A>G	-	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.1_63del	7390	UROS	Pathogenic	373864821	RCV000003965;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127505005	127505005	NM_000375.2:c.1_63del		NC_000010.10:g.127505005C>T	OMIM Allelic Variant:606938.0018	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.10C>T (p.Leu4Phe)	7390	UROS	Pathogenic	121908015	RCV000003953;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127505059	127505059	NM_000375.2:c.10C>T	NP_000366.1:p.Leu4Phe	NC_000010.10:g.127505059G>A	OMIM Allelic Variant:606938.0006	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.-26-177T>C	7390	UROS	Pathogenic	397515348	RCV000003960;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127505271	127505271	NM_000375.2:c.-26-177T>C		NC_000010.10:g.127505271A>G	OMIM Allelic Variant:606938.0013	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.-26-183G>A	7390	UROS	Pathogenic	397515349	RCV000003961;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127505277	127505277	NM_000375.2:c.-26-183G>A		NC_000010.10:g.127505277C>T	OMIM Allelic Variant:606938.0014	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.-26-193C>A	7390	UROS	Pathogenic	397515350	RCV000003962;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127505287	127505287	NM_000375.2:c.-26-193C>A		NC_000010.10:g.127505287G>T	OMIM Allelic Variant:606938.0015	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.-26-197C>A	7390	UROS	Pathogenic	397515351	RCV000003963;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127505291	127505291	NM_000375.2:c.-26-197C>A		NC_000010.10:g.127505291G>T	OMIM Allelic Variant:606938.0016	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.-203T>C	7390	UROS	Pathogenic	869320670	RCV000210860;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127511774	127511774	NM_000375.2:c.-203T>C		NC_000010.10:g.127511774A>G	-	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.-219C>A	7390	UROS	Pathogenic	4385801	RCV000210862;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127511790	127511790	NM_000375.2:c.-219C>A			-	C0162530 263700 Congenital erythropoietic porphyria
NM_000375.2(UROS):c.-223C>A	7390	UROS	Pathogenic	869320669	RCV000210863;	N	MedGen:C0162530,OMIM:263700,ORPHA:79277	10	127511794	127511794	NM_000375.2:c.-223C>A		NC_000010.10:g.127511794G>T	-	C0162530 263700 Congenital erythropoietic porphyria