CEP
MCID: PRP082
MIFTS: 56

Porphyria, Congenital Erythropoietic (CEP)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porphyria, Congenital Erythropoietic

MalaCards integrated aliases for Porphyria, Congenital Erythropoietic:

Name: Porphyria, Congenital Erythropoietic 57 73 20 13 54
Congenital Erythropoietic Porphyria 73 25 20 58 72 29 6
Cep 57 20 58 72
Gunther Disease 57 58 72
Uros Deficiency 57 20
Günther Disease 25 20
Uroporphyrinogen Iii Synthase, Deficiency of 20
Deficiency of Uroporphyrinogen Iii Synthase 70
Uroporphyrinogen Iii Synthase Deficiency 57
Porphyria, Erythropoietic, Congenital 39
Porphyria, Erythropoietic 70
Congenital Porphyria 20

Characteristics:

Orphanet epidemiological data:

58
congenital erythropoietic porphyria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
rare disorder


HPO:

31
porphyria, congenital erythropoietic:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


GeneReviews:

25
Penetrance Most biallelic uros pathogenic variants are 100% penetrant. one report to the contrary concerns a palestinian girl who was asymptomatic (without cutaneous or hematologic signs) despite having a profound deficiency in uro-synthase activity due to homozygosity for the pathogenic missense variant c.139t>c. four of her sibs, who were homozygous for the same pathogenic variant, had moderate to severe cutaneous disease [ged et al 2004]. the molecular basis for the apparent non-penetrance in one sib is unknown but possibly involves unknown modifier genes that prevent the phototoxic effects of porphyrin accumulation.

Classifications:

Orphanet: 58  
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Porphyria, Congenital Erythropoietic

GARD : 20 Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include excessive hair growth throughout the body ( hypertrichosis ), reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Inheritance is autosomal recessive. It is caused by mutations in the UROS gene. Treatment for CEP may include a bone marrow transplant and hematopoietic stem cell cord blood transplantation. Blood transfusions or spleen removal may also reduce the amount of porphyrin produced by the bone marrow. Affected people must avoid sunlight exposure.

MalaCards based summary : Porphyria, Congenital Erythropoietic, also known as congenital erythropoietic porphyria, is related to hypertrichosis and porphyria, acute intermittent. An important gene associated with Porphyria, Congenital Erythropoietic is UROS (Uroporphyrinogen III Synthase), and among its related pathways/superpathways are Metabolism and Biosynthesis of cofactors. The drugs Deferasirox and Colestipol have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and spleen, and related phenotypes are splenomegaly and atypical scarring of skin

OMIM® : 57 The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000). Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment. One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene (305371.0010) that affected UROS expression (see XLTT, 314050). (263700) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Congenital erythropoietic porphyria: Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.

Wikipedia : 73 Gunther disease, is a congenital form of erythropoietic porphyria. The word porphyria originated from... more...

GeneReviews: NBK154652

Related Diseases for Porphyria, Congenital Erythropoietic

Diseases related to Porphyria, Congenital Erythropoietic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 30.5 UROS UROD
2 porphyria, acute intermittent 30.0 UROS UROD HMBS FECH CPOX ALAD
3 scleromalacia perforans 29.9 UROD CPOX
4 sideroblastic anemia 29.7 UROD FECH
5 porphyria 29.6 UROS UROD HMBS GATA1 FECH CPOX
6 cutaneous porphyria 29.3 UROS UROD HMBS GATA1 FECH CPOX
7 anemia, sideroblastic, 1 29.2 UROS GATA1 FECH ALAD
8 deficiency anemia 29.0 UROS GATA1 FECH CPOX ALAD
9 porphyria cutanea tarda 28.6 UROS UROD HMBS FECH CPOX ALAD
10 coproporphyria, hereditary 28.5 UROS UROD HMBS FECH CPOX ALAD
11 protoporphyria, erythropoietic, 1 28.4 UROS UROD HMBS FECH CPOX ALAD
12 dyserythropoietic anemia and thrombocytopenia 11.5
13 autosomal recessive disease 10.8
14 hemolytic anemia 10.8
15 splenomegaly 10.6
16 hydrops fetalis, nonimmune 10.4
17 lymphatic malformation 7 10.4
18 thrombocytopenia with beta-thalassemia, x-linked 10.3
19 hemosiderosis 10.3
20 scleritis 10.3
21 thrombocytopenia 10.3
22 rare hereditary hemochromatosis 10.3
23 abdominal obesity-metabolic syndrome 1 10.2
24 graft-versus-host disease 10.2
25 hypochromic microcytic anemia 10.2
26 cholestasis 10.2
27 hypersplenism 10.2
28 inherited metabolic disorder 10.2
29 polycythemia 10.2
30 acroosteolysis 10.0
31 dowling-degos disease 1 10.0
32 lipoid congenital adrenal hyperplasia 10.0
33 anemia, hypochromic microcytic, with iron overload 1 10.0
34 pseudoxanthoma elasticum 10.0
35 fetal hemoglobin quantitative trait locus 6 10.0
36 beta-thalassemia 10.0
37 myelodysplastic syndrome 10.0
38 helix syndrome 10.0
39 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
40 ifap syndrome 2 10.0
41 pulmonary hypertension 10.0
42 bone disease 10.0
43 acute erythroid leukemia 10.0
44 human cytomegalovirus infection 10.0
45 cholelithiasis 10.0
46 siderosis 10.0
47 rickets 10.0
48 microcytic anemia 10.0
49 constrictive pericarditis 10.0
50 nephrotic syndrome 10.0

Graphical network of the top 20 diseases related to Porphyria, Congenital Erythropoietic:



Diseases related to Porphyria, Congenital Erythropoietic

Symptoms & Phenotypes for Porphyria, Congenital Erythropoietic

Human phenotypes related to Porphyria, Congenital Erythropoietic:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
3 hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001878
4 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
5 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
6 abnormal urinary color 58 31 hallmark (90%) Very frequent (99-80%) HP:0012086
7 abnormal circulating porphyrin concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0010472
8 abnormality of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001155
9 hypertrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000998
10 recurrent skin infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0001581
11 abnormal foot morphology 31 hallmark (90%) HP:0001760
12 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
13 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
14 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
15 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
16 blepharitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000498
17 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
18 ectropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000656
19 thickened skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001072
20 keratoconjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001096
21 recurrent corneal erosions 58 31 occasional (7.5%) Occasional (29-5%) HP:0000495
22 nonimmune hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001790
23 short stature 31 HP:0004322
24 alopecia 31 HP:0001596
25 cholelithiasis 31 HP:0001081
26 abnormality of the foot 58 Very frequent (99-80%)
27 conjunctivitis 31 HP:0000509
28 hypopigmentation of the skin 31 HP:0001010
29 osteolysis 31 HP:0002797
30 vertebral compression fractures 31 HP:0002953
31 corneal scarring 31 HP:0000559
32 absent eyebrow 31 HP:0002223
33 scleroderma 31 HP:0100324
34 hyperpigmentation of the skin 31 HP:0000953
35 pathologic fracture 31 HP:0002756
36 joint contracture of the hand 31 HP:0009473
37 loss of eyelashes 31 HP:0011457
38 erythrodontia 31 HP:0030756
39 pink urine 31 HP:0032001

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia
osteolysis

Growth Height:
short stature

Hematology:
thrombocytopenia
hemolytic anemia

Skin Nails Hair Skin:
scarring
hyperpigmentation
photosensitivity
hypopigmentation
pseudoscleroderma
more
Skeletal Limbs:
pathologic fractures

Abdomen Biliary Tract:
porphyrin-rich gallstones

Skeletal Hands:
contractures of the fingers

Abdomen Spleen:
splenomegaly

Skin Nails Hair Hair:
alopecia
hypertrichosis
loss of eyelashes
loss of eyebrows

Head And Neck Eyes:
conjunctivitis
corneal scarring

Laboratory Abnormalities:
pink urine
uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces
uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts

Head And Neck Mouth:
red stained teeth (erythrodontia)

Skeletal Spine:
vertebral compression or collapse

Clinical features from OMIM®:

263700 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Porphyria, Congenital Erythropoietic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 ALAD CPOX FECH GATA1 HMBS UROS
2 homeostasis/metabolism MP:0005376 9.7 ALAD CPOX FECH GATA1 HMBS UROD
3 liver/biliary system MP:0005370 9.35 FECH GATA1 HMBS UROD UROS
4 mortality/aging MP:0010768 9.17 ALAD CPOX FECH GATA1 HMBS UROD

Drugs & Therapeutics for Porphyria, Congenital Erythropoietic

Drugs for Porphyria, Congenital Erythropoietic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381 214348
2
Colestipol Approved Phase 2, Phase 3 26658-42-4
3 Chelating Agents Phase 3
4 Iron Chelating Agents Phase 3
5 Lipid Regulating Agents Phase 2, Phase 3
6 Antimetabolites Phase 2, Phase 3
7 Hypolipidemic Agents Phase 2, Phase 3
8
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
9
Ledipasvir Approved Phase 2 1256388-51-8 67505836
10
Iron Approved Phase 2 7439-89-6 23925 29936
11
Hydroxychloroquine Approved Phase 2 118-42-3 3652
12 Tin mesoporphyrin Phase 1, Phase 2
13 Antiviral Agents Phase 2
14 Ledipasvir, sofosbuvir drug combination Phase 2
15 Anti-Infective Agents Phase 2
16 Antimalarials Phase 2
17 Antirheumatic Agents Phase 2
18 Antiparasitic Agents Phase 2
19 Antiprotozoal Agents Phase 2
20
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
21
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
22
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
23
Caffeine Approved Phase 1 58-08-2 2519
24
Losartan Approved Phase 1 114798-26-4 3961
25 Liver Extracts Phase 1
26
Aminolevulinic acid Approved 106-60-5 137
27 Hormone Antagonists
28 Hormones

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 A Multi-centre, Double-blind, Randomized, Placebo-controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Porphozym (Recombinant Human Porphobilinogen Deaminase) in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
2 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
3 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
4 ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
5 A Phase II, Open Label Clinical Trial Exploring the Safety and the Efficacy of Oral Deferasirox in Patients Newly Diagnosed With Porphyria Cutanea Tarda (PCT) and Non-transfusion Iron Overload Unknown status NCT01284946 Phase 2 Exjade
6 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
7 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
8 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Recruiting NCT03118674 Phase 2 Harvoni
9 Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
10 A Multicenter, Open-label Extension Study to Evaluate the Long-term Safety and Clinical Activity of Subcutaneously Administered ALN-AS1 in Patients With Acute Intermittent Porphyria Who Have Completed a Previous Clinical Study With ALN-AS1 Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
11 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Active, not recruiting NCT01573754 Phase 2 Hydroxychloroquine
12 A Double-blind, Randomized, Placebo-controlled, Parallel Group Trial on the Efficacy and Safety of PanhematinTM in the Treatment of Acute Attacks of Porphyria Active, not recruiting NCT02180412 Phase 2
13 Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria Completed NCT00004397 Phase 1 heme arginate;tin mesoporphyrin
14 Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Completed NCT00004398 Phase 1 heme arginate;tin mesoporphyrin
15 A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
16 A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
17 Phase I, Multicentre, Open Label, Single Dose, Dose-ranging Clinical Trial to Investigate the Safety and Tolerability of a Gene Therapy rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
18 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
19 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Approved for marketing NCT04056481 Givosiran
20 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
21 Study of Nutritional Factors in Porphyria Completed NCT00004788
22 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
23 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
24 "Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus" Completed NCT00213772
25 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
26 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
27 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
28 Longitudinal Study of the Porphyrias Recruiting NCT01561157
29 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Active, not recruiting NCT02240784
30 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC) Active, not recruiting NCT01880983
31 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Active, not recruiting NCT01617642
32 Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment Active, not recruiting NCT02935400 Hemin
33 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Terminated NCT03547297

Search NIH Clinical Center for Porphyria, Congenital Erythropoietic

Genetic Tests for Porphyria, Congenital Erythropoietic

Genetic tests related to Porphyria, Congenital Erythropoietic:

# Genetic test Affiliating Genes
1 Congenital Erythropoietic Porphyria 29 UROS

Anatomical Context for Porphyria, Congenital Erythropoietic

MalaCards organs/tissues related to Porphyria, Congenital Erythropoietic:

40
Bone Marrow, Bone, Spleen, Liver, Skin, Brain, Testis

Publications for Porphyria, Congenital Erythropoietic

Articles related to Porphyria, Congenital Erythropoietic:

(show top 50) (show all 348)
# Title Authors PMID Year
1
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. 6 57 25 54 61
9834209 1998
2
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. 54 25 61 57
16532394 2006
3
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. 25 61 6 54
11254675 2001
4
C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. 25 6 54 61
9803266 1998
5
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. 25 6 54 61
1737856 1992
6
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). 6 57 61
2331520 1990
7
Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R. 61 6 25
21343304 2011
8
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. 61 6 25
12060141 2002
9
Congenital erythropoietic porphyria: advances in pathogenesis and treatment. 25 61 57
12060112 2002
10
Congenital erythropoietic porphyria. 61 57 25
9092747 1997
11
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. 61 25 6
1733834 1992
12
Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions. 61 25 57
3960070 1986
13
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. 61 54 6
19965637 2010
14
Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells. 54 61 57
18179890 2008
15
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. 61 54 57
8829650 1996
16
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. 61 6 54
8946173 1996
17
Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. 6 61
21365124 2011
18
[Successful gene therapy of mice with congenital erythropoietic porphyria]. 25 54 61
18601879 2008
19
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 25 54 61
17148589 2007
20
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease). 54 25 61
15703981 2005
21
Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature. 54 61 25
12534613 2003
22
Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses. 25 61 54
11178635 2001
23
The cutaneous porphyrias. 57 61
10604794 1999
24
Molecular genetics of congenital erythropoietic porphyria. 54 25 61
9516681 1998
25
Adult-onset congenital erythropoietic porphyria (Günther's disease) presenting with thrombocytopenia. 57 61
7629774 1995
26
[Congenital erythropoietic porphyria]. 61 6
7616657 1995
27
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. 6 61
7860775 1995
28
Hematin therapy in late onset congenital erythropoietic porphyria. 61 57
2207013 1990
29
Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease). 61 57
2246853 1990
30
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. 57 61
3674403 1987
31
Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria. 61 57
3100953 1987
32
Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset. 61 57
7205063 1981
33
Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. 61 57
7358389 1980
34
Urinary excretion of position isomers of penta-and hexa-carboxylated porphyrins belonging to the isomer III series in a case of congenital erythropoietic porphyria. 57 61
616062 1977
35
Erythropoietic porphyria of the fox squirrel Sciurus niger. 61 57
4682390 1973
36
Uroporphyrinogen 3 cosynthetase activity in the fox squirrel (Sciurus niger). 61 57
5120867 1971
37
Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria. 61 57
5496227 1970
38
Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria. 57 61
5259767 1969
39
Uroporphyrinogen 3 cosynthetase in bovine erythropoietic porphyria. 57 61
5667525 1968
40
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. 25 61
25972160 2015
41
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. 25 61
25251786 2015
42
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. 61 25
22804244 2012
43
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. 61 25
22816431 2012
44
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. 61 25
21653323 2011
45
Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria. 25 61
21326293 2011
46
Scleral necrosis in a patient with congenital erythropoietic porphyria. 61 25
20847674 2011
47
Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria. 25 61
18186900 2008
48
Pregnancy in a patient with congenital erythropoietic porphyria. 25 61
17687144 2007
49
Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma. 25 61
17300251 2007
50
Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. 61 25
15304101 2004

Variations for Porphyria, Congenital Erythropoietic

ClinVar genetic disease variations for Porphyria, Congenital Erythropoietic:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UROS UROS, 80-BP INS Insertion Pathogenic 3757 GRCh37:
GRCh38:
2 UROS NM_000375.3(UROS):c.217T>C (p.Cys73Arg) SNV Pathogenic 3750 rs121908012 GRCh37: 10:127503630-127503630
GRCh38: 10:125815061-125815061
3 UROS NM_000375.3(UROS):c.158C>T (p.Pro53Leu) SNV Pathogenic 3751 rs121908013 GRCh37: 10:127503689-127503689
GRCh38: 10:125815120-125815120
4 UROS NM_000375.3(UROS):c.197C>T (p.Ala66Val) SNV Pathogenic 3752 rs28941774 GRCh37: 10:127503650-127503650
GRCh38: 10:125815081-125815081
5 UROS NM_000375.3(UROS):c.184A>G (p.Thr62Ala) SNV Pathogenic 3753 rs28941775 GRCh37: 10:127503663-127503663
GRCh38: 10:125815094-125815094
6 UROS NM_000375.3(UROS):c.683C>T (p.Thr228Met) SNV Pathogenic 3754 rs121908014 GRCh37: 10:127477552-127477552
GRCh38: 10:125788983-125788983
7 UROS NM_000375.3(UROS):c.10C>T (p.Leu4Phe) SNV Pathogenic 3755 rs121908015 GRCh37: 10:127505059-127505059
GRCh38: 10:125816490-125816490
8 UROS NM_000375.3(UROS):c.562G>A (p.Gly188Arg) SNV Pathogenic 3759 rs121908017 GRCh37: 10:127483547-127483547
GRCh38: 10:125794978-125794978
9 UROS NM_000375.3(UROS):c.243A>T (p.Glu81Asp) SNV Pathogenic 3760 rs121908018 GRCh37: 10:127503604-127503604
GRCh38: 10:125815035-125815035
10 UROS NM_000375.3(UROS):c.562G>T (p.Gly188Trp) SNV Pathogenic 3761 rs121908017 GRCh37: 10:127483547-127483547
GRCh38: 10:125794978-125794978
11 UROS NM_000375.3(UROS):c.-203T>C SNV Pathogenic 3762 rs1554891988 GRCh37: 10:127511774-127511774
GRCh38: 10:125823205-125823205
12 UROS NM_000375.3(UROS):c.-26-183G>A SNV Pathogenic 3763 rs397515349 GRCh37: 10:127505277-127505277
GRCh38: 10:125816708-125816708
13 UROS NM_000375.3(UROS):c.-26-193C>A SNV Pathogenic 3764 rs397515350 GRCh37: 10:127505287-127505287
GRCh38: 10:125816718-125816718
14 UROS NM_000375.3(UROS):c.-26-197C>A SNV Pathogenic 3765 rs397515351 GRCh37: 10:127505291-127505291
GRCh38: 10:125816722-125816722
15 UROS NM_000375.3(UROS):c.673G>A (p.Gly225Ser) SNV Pathogenic 3766 rs121908020 GRCh37: 10:127477562-127477562
GRCh38: 10:125788993-125788993
16 UROS NM_000375.3(UROS):c.63+1G>A SNV Pathogenic 3767 rs373864821 GRCh37: 10:127505005-127505005
GRCh38: 10:125816436-125816436
17 UROS NM_000375.3(UROS):c.395-1dup Duplication Pathogenic 3768 rs796051859 GRCh37: 10:127486711-127486712
GRCh38: 10:125798142-125798143
18 UROS NM_000375.3(UROS):c.743C>A (p.Pro248Gln) SNV Pathogenic 3769 rs121908021 GRCh37: 10:127477492-127477492
GRCh38: 10:125788923-125788923
19 UROS NM_000375.3(UROS):c.661-31T>G SNV Pathogenic 30626 rs750180293 GRCh37: 10:127477605-127477605
GRCh38: 10:125789036-125789036
20 UROS NM_000375.3(UROS):c.139T>C (p.Ser47Pro) SNV Pathogenic 65600 rs397515527 GRCh37: 10:127504754-127504754
GRCh38: 10:125816185-125816185
21 UROS NM_000375.3(UROS):c.311C>T (p.Ala104Val) SNV Pathogenic 65601 rs397515528 GRCh37: 10:127500791-127500791
GRCh38: 10:125812222-125812222
22 UROS NM_000375.3(UROS):c.56A>G (p.Tyr19Cys) SNV Pathogenic 694740 rs1590007244 GRCh37: 10:127505013-127505013
GRCh38: 10:125816444-125816444
23 UROS NM_000375.2(UROS):c.148_244del (p.Leu50Serfs) Deletion Pathogenic 3756 GRCh37:
GRCh38:
24 UROS NM_000375.3(UROS):c.660+1G>A SNV Pathogenic 1030750 GRCh37: 10:127483448-127483448
GRCh38: 10:125794879-125794879
25 UROS NM_000375.3(UROS):c.562-2A>T SNV Pathogenic 1032321 GRCh37: 10:127483549-127483549
GRCh38: 10:125794980-125794980
26 UROS NM_000375.3(UROS):c.-224C>T SNV Uncertain significance 877640 GRCh37: 10:127511795-127511795
GRCh38: 10:125823226-125823226
27 UROS NM_000375.3(UROS):c.*92T>G SNV Uncertain significance 878597 GRCh37: 10:127477345-127477345
GRCh38: 10:125788776-125788776
28 UROS NM_000375.3(UROS):c.*56T>C SNV Uncertain significance 878598 GRCh37: 10:127477381-127477381
GRCh38: 10:125788812-125788812
29 UROS NM_000375.3(UROS):c.169G>A (p.Gly57Arg) SNV Uncertain significance 879195 GRCh37: 10:127503678-127503678
GRCh38: 10:125815109-125815109
30 UROS NM_000375.3(UROS):c.106T>G (p.Leu36Val) SNV Uncertain significance 879196 GRCh37: 10:127504787-127504787
GRCh38: 10:125816218-125816218
31 UROS NM_000375.3(UROS):c.63+8G>A SNV Uncertain significance 713813 rs17153575 GRCh37: 10:127504998-127504998
GRCh38: 10:125816429-125816429
32 UROS NM_000375.3(UROS):c.53C>T (p.Pro18Leu) SNV Uncertain significance 879197 GRCh37: 10:127505016-127505016
GRCh38: 10:125816447-125816447
33 UROS NM_000375.3(UROS):c.-134C>A SNV Uncertain significance 880399 GRCh37: 10:127511705-127511705
GRCh38: 10:125823136-125823136
34 UROS NM_000375.3(UROS):c.-195C>A SNV Uncertain significance 880400 GRCh37: 10:127511766-127511766
GRCh38: 10:125823197-125823197
35 UROS NM_000375.3(UROS):c.327A>C (p.Lys109Asn) SNV Uncertain significance 299192 rs369561042 GRCh37: 10:127496049-127496049
GRCh38: 10:125807480-125807480
36 UROS NM_000375.3(UROS):c.*178G>A SNV Uncertain significance 299183 rs569628154 GRCh37: 10:127477259-127477259
GRCh38: 10:125788690-125788690
37 UROS NM_000375.3(UROS):c.512T>C (p.Val171Ala) SNV Uncertain significance 299189 rs17173752 GRCh37: 10:127484721-127484721
GRCh38: 10:125796152-125796152
38 UROS NM_000375.3(UROS):c.*24A>G SNV Uncertain significance 299186 rs760003189 GRCh37: 10:127477413-127477413
GRCh38: 10:125788844-125788844
39 UROS NM_000375.3(UROS):c.*99A>G SNV Uncertain significance 299184 rs886046814 GRCh37: 10:127477338-127477338
GRCh38: 10:125788769-125788769
40 UROS NM_000375.3(UROS):c.475+14T>A SNV Uncertain significance 299190 rs17425877 GRCh37: 10:127486620-127486620
GRCh38: 10:125798051-125798051
41 UROS NM_000375.3(UROS):c.251A>C (p.Glu84Ala) SNV Uncertain significance 299193 rs763606042 GRCh37: 10:127500851-127500851
GRCh38: 10:125812282-125812282
42 UROS NM_000375.3(UROS):c.691G>A (p.Ala231Thr) SNV Uncertain significance 299187 rs780837512 GRCh37: 10:127477544-127477544
GRCh38: 10:125788975-125788975
43 UROS NM_000375.3(UROS):c.-232G>A SNV Uncertain significance 299199 rs886046815 GRCh37: 10:127511803-127511803
GRCh38: 10:125823234-125823234
44 UROS NM_000375.3(UROS):c.244G>T (p.Val82Phe) SNV Uncertain significance 3758 rs121908016 GRCh37: 10:127503603-127503603
GRCh38: 10:125815034-125815034
45 UROS NM_000375.3(UROS):c.27G>A (p.Ala9=) SNV Likely benign 299194 rs150059279 GRCh37: 10:127505042-127505042
GRCh38: 10:125816473-125816473
46 UROS NM_000375.3(UROS):c.-31G>T SNV Likely benign 299196 rs73381212 GRCh37: 10:127511602-127511602
GRCh38: 10:125823033-125823033
47 UROS NM_000375.3(UROS):c.-27+10G>A SNV Likely benign 299195 rs376517536 GRCh37: 10:127511588-127511588
GRCh38: 10:125823019-125823019
48 UROS NM_000375.3(UROS):c.*96G>A SNV Likely benign 877580 GRCh37: 10:127477341-127477341
GRCh38: 10:125788772-125788772
49 UROS NM_000375.3(UROS):c.740C>T (p.Thr247Met) SNV Likely benign 878599 GRCh37: 10:127477495-127477495
GRCh38: 10:125788926-125788926
50 UROS NM_000375.3(UROS):c.-185G>A SNV Benign 299198 rs4256900 GRCh37: 10:127511756-127511756
GRCh38: 10:125823187-125823187

UniProtKB/Swiss-Prot genetic disease variations for Porphyria, Congenital Erythropoietic:

72 (show all 21)
# Symbol AA change Variation ID SNP ID
1 UROS p.Leu4Phe VAR_003674 rs121908015
2 UROS p.Tyr19Cys VAR_003675
3 UROS p.Pro53Leu VAR_003676 rs121908013
4 UROS p.Thr62Ala VAR_003677 rs28941775
5 UROS p.Ala66Val VAR_003678 rs28941774
6 UROS p.Cys73Arg VAR_003679 rs121908012
7 UROS p.Val82Phe VAR_003680 rs121908016
8 UROS p.Val99Ala VAR_003681
9 UROS p.Ala104Val VAR_003682 rs397515528
10 UROS p.Ser212Pro VAR_003683 rs139388833
11 UROS p.Gly225Ser VAR_003684 rs121908020
12 UROS p.Thr228Met VAR_003685 rs121908014
13 UROS p.Gly188Arg VAR_013558 rs121908017
14 UROS p.Val3Phe VAR_021615 rs773301339
15 UROS p.Ser47Pro VAR_021616 rs397515527
16 UROS p.Ala69Thr VAR_021617
17 UROS p.Ile129Thr VAR_021618
18 UROS p.Gly188Trp VAR_021619 rs121908017
19 UROS p.Ile219Ser VAR_021621 rs767029901
20 UROS p.Pro248Gln VAR_066247 rs121908021
21 UROS p.Leu237Pro VAR_067318 rs777433697

Expression for Porphyria, Congenital Erythropoietic

Search GEO for disease gene expression data for Porphyria, Congenital Erythropoietic.

Pathways for Porphyria, Congenital Erythropoietic

GO Terms for Porphyria, Congenital Erythropoietic

Biological processes related to Porphyria, Congenital Erythropoietic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protoporphyrinogen IX biosynthetic process GO:0006782 9.55 UROS UROD HMBS CPOX ALAD
2 tetrapyrrole biosynthetic process GO:0033014 9.5 UROS HMBS ALAD
3 response to ethanol GO:0045471 9.48 FECH ALAD
4 response to lead ion GO:0010288 9.46 FECH ALAD
5 response to metal ion GO:0010038 9.43 FECH ALAD
6 response to platinum ion GO:0070541 9.43 UROS FECH ALAD
7 heme biosynthetic process GO:0006783 9.43 UROS UROD HMBS FECH CPOX ALAD
8 response to arsenic-containing substance GO:0046685 9.4 FECH ALAD
9 response to methylmercury GO:0051597 9.37 FECH ALAD
10 porphyrin-containing compound biosynthetic process GO:0006779 9.1 UROS UROD HMBS FECH CPOX ALAD

Molecular functions related to Porphyria, Congenital Erythropoietic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.92 UROS UROD FECH ALAD

Sources for Porphyria, Congenital Erythropoietic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....