CEP
MCID: PRP082
MIFTS: 52

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 76 53 13 55
Congenital Erythropoietic Porphyria 76 24 53 59 75 29 6
Cep 57 53 59 75
Günther Disease 24 53 59
Gunther Disease 57 75
Uros Deficiency 57 53
Uroporphyrinogen Iii Synthase, Deficiency of 53
Deficiency of Uroporphyrinogen Iii Synthase 73
Uroporphyrinogen Iii Synthase Deficiency 57
Porphyria, Erythropoietic, Congenital 40
Uroporphyrinogen Iii Synthase 13
Porphyria, Erythropoietic 73
Congenital Porphyria 53

Characteristics:

Orphanet epidemiological data:

59
congenital erythropoietic porphyria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
rare disorder


HPO:

32
porphyria, congenital erythropoietic:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


GeneReviews:

24
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&gt;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:



Summaries for Porphyria, Congenital Erythropoietic

NIH Rare Diseases : 53 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 porphyria cutanea tarda and porphyria. An important gene associated with Porphyria, Congenital Erythropoietic is UROS (Uroporphyrinogen III Synthase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are osteopenia and splenomegaly

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Gunther disease, also known as congenital erythropoietic porphyria (CEP), uroporphyrinogen III synthase... more...

GeneReviews: NBK154652

Related Diseases for Porphyria, Congenital Erythropoietic

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



Diseases related to Porphyria, Congenital Erythropoietic

Symptoms & Phenotypes for Porphyria, Congenital Erythropoietic

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
osteolysis

Growth Height:
short stature

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

Skin Nails Hair Skin:
scarring
hyperpigmentation
photosensitivity
hypopigmentation
pseudoscleroderma
more
Head And Neck Mouth:
red stained teeth (erythrodontia)

Skeletal Spine:
vertebral compression or collapse

Laboratory Abnormalities:
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
pink urine

Abdomen Spleen:
splenomegaly

Hematology:
hemolytic anemia
thrombocytopenia

Head And Neck Eyes:
conjunctivitis
corneal scarring

Skeletal Limbs:
pathologic fractures

Abdomen Biliary Tract:
porphyrin-rich gallstones

Skeletal Hands:
contractures of the fingers


Clinical features from OMIM:

263700

Human phenotypes related to Porphyria, Congenital Erythropoietic:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
2 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
3 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
4 hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001878
5 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
6 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
7 abnormality of the foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001760
8 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
9 blepharitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000498
10 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
11 thickened skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001072
12 abnormality of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001155
13 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
14 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
15 ectropion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000656
16 recurrent skin infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0001581
17 abnormal urinary color 59 32 hallmark (90%) Very frequent (99-80%) HP:0012086
18 hypertrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000998
19 keratoconjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001096
20 abnormality of the heme biosynthetic pathway 59 32 hallmark (90%) Very frequent (99-80%) HP:0010472
21 recurrent corneal erosions 59 32 occasional (7.5%) Occasional (29-5%) HP:0000495
22 nonimmune hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001790
23 short stature 32 HP:0004322
24 pathologic fracture 32 HP:0002756
25 alopecia 32 HP:0001596
26 cholelithiasis 32 HP:0001081
27 loss of eyelashes 32 HP:0011457
28 abnormality of the mouth 32 HP:0000153
29 conjunctivitis 32 HP:0000509
30 osteolysis 32 HP:0002797
31 hyperpigmentation of the skin 32 HP:0000953
32 hypopigmentation of the skin 32 HP:0001010
33 absent eyebrow 32 HP:0002223
34 scleroderma 32 HP:0100324
35 vertebral compression fractures 32 HP:0002953
36 joint contracture of the hand 32 HP:0009473
37 corneal scarring 32 HP:0000559
38 pink urine 32 HP:0032001

MGI Mouse Phenotypes related to Porphyria, Congenital Erythropoietic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.63 CPOX FECH GATA1 HMBS UROD UROS
2 liver/biliary system MP:0005370 9.26 FECH GATA1 UROD UROS
3 mortality/aging MP:0010768 9.1 CPOX FECH GATA1 HMBS UROD UROS

Drugs & Therapeutics for Porphyria, Congenital Erythropoietic

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 3,Phase 2,Not Applicable 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
3
Colestipol Approved Phase 2, Phase 3 26658-42-4
4 Hormones Phase 3,Phase 2,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
6 Hormone Antagonists Phase 3,Phase 2,Not Applicable
7 alpha-MSH Phase 3,Phase 2 581-05-5
8 Iron Chelating Agents Phase 3,Phase 2
9 Chelating Agents Phase 3,Phase 2
10 Lipid Regulating Agents Phase 2, Phase 3,Not Applicable
11 Antimetabolites Phase 2, Phase 3,Not Applicable
12 Hypolipidemic Agents Phase 2, Phase 3,Not Applicable
13 cysteine Phase 3,Not Applicable
14
Hydroxychloroquine Approved Phase 2 118-42-3 3652
15
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
16
Ledipasvir Approved Phase 2 1256388-51-8 67505836
17 Tin mesoporphyrin Phase 1, Phase 2,Phase 2
18
Tin Phase 1, Phase 2,Phase 2 7440-31-5
19 Anti-Infective Agents Phase 2,Not Applicable
20 Antiparasitic Agents Phase 2
21 Antirheumatic Agents Phase 2
22 Antimalarials Phase 2
23 Antiprotozoal Agents Phase 2
24 Antiviral Agents Phase 2
25 Ledipasvir, sofosbuvir drug combination Phase 2
26
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
27
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
28
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
29
Caffeine Approved Phase 1 58-08-2 2519
30
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
31
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
32
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
33
Losartan Approved Phase 1 114798-26-4 3961
34
Tocopherol Approved, Investigational Phase 1 1406-66-2 14986
35
Pentoxifylline Approved, Investigational Phase 1 6493-05-6 4740
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1 59-02-9 14985
37 Tocotrienol Investigational Phase 1 6829-55-6
38 Liver Extracts Phase 1
39 Central Nervous System Depressants Phase 1
40 Peripheral Nervous System Agents Phase 1
41 Dopamine Antagonists Phase 1
42 Antiemetics Phase 1
43 Dopamine Agents Phase 1
44 Antipsychotic Agents Phase 1
45 Tranquilizing Agents Phase 1
46 Neurotransmitter Agents Phase 1
47 Autonomic Agents Phase 1
48 Psychotropic Drugs Phase 1
49 Gastrointestinal Agents Phase 1
50 Micronutrients Phase 1,Not Applicable

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Phase III Confirmatory Study in Erythropoietic Protoporphyria Unknown status NCT01605136 Phase 3 Afamelanotide;Placebo
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 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
5 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
6 Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3 Afamelanotide;Placebo
7 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
8 Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda Unknown status NCT01284946 Phase 2 Exjade
9 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
10 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
11 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
12 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2 Afamelanotide;Placebo
13 Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
14 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
15 Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda Recruiting NCT01573754 Phase 2 Hydroxychloroquine
16 Harvoni Treatment Porphyria Cutanea Tarda Recruiting NCT03118674 Phase 2 Harvoni
17 Study to Evaluate Efficacy, Safety, and Tolerability of MT‑7117 in Subjects With Erythropoietic Protoporphyria Recruiting NCT03520036 Phase 2 MT-7117 low dose;MT-7117 high dose;Placebo
18 A Study to Evaluate Long-term Safety and Clinical Activity of Givosiran (ALN-AS1) in Patient With Acute Intermittent Porphyria (AIP) Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
19 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
20 A Phase 1 Study of Givosiran (ALN-AS1) in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
21 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
22 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
23 Hemin in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
24 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
25 A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Active, not recruiting NCT03505853 Phase 1 Givosiran;5-probe cocktail
26 PentoxIfylline and Tocopherol for the Treatment of Post-radiotherapy Fibrosis in Head and Neck Cancer Patients Not yet recruiting NCT03723291 Phase 1
27 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
28 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869 Not Applicable
29 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
30 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
31 Study of Nutritional Factors in Porphyria Completed NCT00004788
32 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 Not Applicable luteinizing hormone-releasing factor
33 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
34 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
35 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 Not Applicable cysteine hydrochloride
36 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
37 Study to Describe the Actual Situation of Hepatitis C Treatment in Brazil Completed NCT02773394
38 Longitudinal Study of the Porphyrias Recruiting NCT01561157
39 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
40 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
41 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
42 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
43 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
44 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
45 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
46 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
47 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Not Applicable Isoniazid

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:

41
Skin, Bone, Bone Marrow, Liver, Spleen, Brain, Myeloid

Publications for Porphyria, Congenital Erythropoietic

Articles related to Porphyria, Congenital Erythropoietic:

(show top 50) (show all 206)
# Title Authors Year
1
Brain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria. ( 29705816 )
2018
2
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria. ( 30232228 )
2018
3
Scleritis in congenital erythropoietic porphyria - infective or inflammatory? ( 30249837 )
2018
4
Anaesthetic concerns in the patients with congenital erythropoietic porphyria for ocular surgery. ( 30388602 )
2018
5
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. ( 30454868 )
2018
6
Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review. ( 28329491 )
2017
7
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. ( 28334762 )
2017
8
A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations. ( 26957860 )
2016
9
Advances in understanding the pathogenesis of congenital erythropoietic porphyria. ( 26969896 )
2016
10
Congenital Erythropoietic Porphyria with Undescended Testis. ( 27512208 )
2016
11
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. ( 27859603 )
2016
12
Congenital Erythropoietic Porphyria With Calcific Constrictive Pericarditis: A Case Report and Brief Review of Literature. ( 26467880 )
2015
13
Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1. ( 26392207 )
2015
14
Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature. ( 26903733 )
2015
15
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. ( 25972160 )
2015
16
Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria. ( 25092523 )
2014
17
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. ( 25251786 )
2014
18
Congenital erythropoietic porphyria: a case in which symptoms were precipitated by an unrelated anaemia. ( 24601890 )
2014
19
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. ( 24925316 )
2014
20
Pseudoxanthoma elasticum-like skin lesions with congenital erythropoietic porphyria. ( 25091813 )
2014
21
Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria. ( 23953398 )
2014
22
Brothers with congenital erythropoietic porphyria. ( 24485140 )
2014
23
Development of corticobasal syndrome in a patient with congenital erythropoietic porphyria. ( 24388147 )
2013
24
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options. ( 23612387 )
2013
25
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. ( 24145442 )
2013
26
Manifestations and treatment of the hand in adult congenital erythropoietic porphyria. ( 24048109 )
2013
27
Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient. ( 23626549 )
2013
28
Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria. ( 24192686 )
2013
29
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation. ( 23557135 )
2013
30
A Case of Congenital Erythropoietic Porphyria without Hemolysis. ( 24082206 )
2013
31
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. ( 22804244 )
2012
32
Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty. ( 22199075 )
2012
33
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors. ( 22795135 )
2012
34
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria. ( 22350154 )
2012
35
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. ( 22816431 )
2012
36
A puzzling mutation in congenital erythropoietic porphyria and an association with I^-thalassaemia trait. ( 22429022 )
2012
37
A molecular study of congenital erythropoietic porphyria in cattle. ( 22404357 )
2012
38
Congenital erythropoietic porphyria: bringing evidence-based practice to a rare disease. ( 23013311 )
2012
39
Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria. ( 21326293 )
2011
40
Congenital erythropoietic porphyria: two case reports. ( 21572804 )
2011
41
Congenital erythropoietic porphyria and Parkinson's disease: clinical association in a patient with a long-term follow-up. ( 21840789 )
2011
42
Severe neonatal congenital erythropoietic porphyria. ( 21362030 )
2011
43
Scleral necrosis in a patient with congenital erythropoietic porphyria. ( 20847674 )
2011
44
Erythrodontia in congenital erythropoietic porphyria. ( 21731282 )
2011
45
Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. ( 21365124 )
2011
46
Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria. ( 21570665 )
2011
47
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. ( 21653323 )
2011
48
Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met). ( 22090724 )
2011
49
Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation. ( 20586119 )
2010
50
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. ( 20485863 )
2010

Variations for Porphyria, Congenital Erythropoietic

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

75 (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

ClinVar genetic disease variations for Porphyria, Congenital Erythropoietic:

6 (show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 UROS NM_000375.2(UROS): c.217T> C (p.Cys73Arg) single nucleotide variant Pathogenic rs121908012 GRCh37 Chromosome 10, 127503630: 127503630
2 UROS NM_000375.2(UROS): c.217T> C (p.Cys73Arg) single nucleotide variant Pathogenic rs121908012 GRCh38 Chromosome 10, 125815061: 125815061
3 UROS NM_000375.2(UROS): c.158C> T (p.Pro53Leu) single nucleotide variant Pathogenic rs121908013 GRCh37 Chromosome 10, 127503689: 127503689
4 UROS NM_000375.2(UROS): c.158C> T (p.Pro53Leu) single nucleotide variant Pathogenic rs121908013 GRCh38 Chromosome 10, 125815120: 125815120
5 UROS NM_000375.2(UROS): c.197C> T (p.Ala66Val) single nucleotide variant Pathogenic rs28941774 GRCh37 Chromosome 10, 127503650: 127503650
6 UROS NM_000375.2(UROS): c.197C> T (p.Ala66Val) single nucleotide variant Pathogenic rs28941774 GRCh38 Chromosome 10, 125815081: 125815081
7 UROS NM_000375.2(UROS): c.184A> G (p.Thr62Ala) single nucleotide variant Pathogenic rs28941775 GRCh37 Chromosome 10, 127503663: 127503663
8 UROS NM_000375.2(UROS): c.184A> G (p.Thr62Ala) single nucleotide variant Pathogenic rs28941775 GRCh38 Chromosome 10, 125815094: 125815094
9 UROS NM_000375.2(UROS): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs121908014 GRCh37 Chromosome 10, 127477552: 127477552
10 UROS NM_000375.2(UROS): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs121908014 GRCh38 Chromosome 10, 125788983: 125788983
11 UROS NM_000375.2(UROS): c.10C> T (p.Leu4Phe) single nucleotide variant Pathogenic rs121908015 GRCh37 Chromosome 10, 127505059: 127505059
12 UROS NM_000375.2(UROS): c.10C> T (p.Leu4Phe) single nucleotide variant Pathogenic rs121908015 GRCh38 Chromosome 10, 125816490: 125816490
13 UROS NM_000375.2(UROS): c.148_244del (p.Leu50Serfs) deletion Pathogenic
14 UROS UROS, 80-BP INS insertion Pathogenic
15 UROS NM_000375.2(UROS): c.244G> T (p.Val82Phe) single nucleotide variant Uncertain significance rs121908016 GRCh37 Chromosome 10, 127503603: 127503603
16 UROS NM_000375.2(UROS): c.244G> T (p.Val82Phe) single nucleotide variant Uncertain significance rs121908016 GRCh38 Chromosome 10, 125815034: 125815034
17 UROS NM_000375.2(UROS): c.562G> A (p.Gly188Arg) single nucleotide variant Pathogenic rs121908017 GRCh37 Chromosome 10, 127483547: 127483547
18 UROS NM_000375.2(UROS): c.562G> A (p.Gly188Arg) single nucleotide variant Pathogenic rs121908017 GRCh38 Chromosome 10, 125794978: 125794978
19 UROS NM_000375.2(UROS): c.243A> T (p.Glu81Asp) single nucleotide variant Pathogenic rs121908018 GRCh37 Chromosome 10, 127503604: 127503604
20 UROS NM_000375.2(UROS): c.243A> T (p.Glu81Asp) single nucleotide variant Pathogenic rs121908018 GRCh38 Chromosome 10, 125815035: 125815035
21 UROS NM_000375.2(UROS): c.562G> T (p.Gly188Trp) single nucleotide variant Pathogenic rs121908017 GRCh37 Chromosome 10, 127483547: 127483547
22 UROS NM_000375.2(UROS): c.562G> T (p.Gly188Trp) single nucleotide variant Pathogenic rs121908017 GRCh38 Chromosome 10, 125794978: 125794978
23 UROS NM_000375.2(UROS): c.-26-177T> C single nucleotide variant Pathogenic rs397515348 GRCh37 Chromosome 10, 127505271: 127505271
24 UROS NM_000375.2(UROS): c.-26-177T> C single nucleotide variant Pathogenic rs397515348 GRCh38 Chromosome 10, 125816702: 125816702
25 UROS NM_000375.2(UROS): c.-26-183G> A single nucleotide variant Pathogenic rs397515349 GRCh37 Chromosome 10, 127505277: 127505277
26 UROS NM_000375.2(UROS): c.-26-183G> A single nucleotide variant Pathogenic rs397515349 GRCh38 Chromosome 10, 125816708: 125816708
27 UROS NM_000375.2(UROS): c.-26-193C> A single nucleotide variant Pathogenic rs397515350 GRCh37 Chromosome 10, 127505287: 127505287
28 UROS NM_000375.2(UROS): c.-26-193C> A single nucleotide variant Pathogenic rs397515350 GRCh38 Chromosome 10, 125816718: 125816718
29 UROS NM_000375.2(UROS): c.-26-197C> A single nucleotide variant Pathogenic rs397515351 GRCh37 Chromosome 10, 127505291: 127505291
30 UROS NM_000375.2(UROS): c.-26-197C> A single nucleotide variant Pathogenic rs397515351 GRCh38 Chromosome 10, 125816722: 125816722
31 UROS NM_000375.2(UROS): c.673G> A (p.Gly225Ser) single nucleotide variant Pathogenic rs121908020 GRCh37 Chromosome 10, 127477562: 127477562
32 UROS NM_000375.2(UROS): c.673G> A (p.Gly225Ser) single nucleotide variant Pathogenic rs121908020 GRCh38 Chromosome 10, 125788993: 125788993
33 UROS NM_000375.2(UROS): c.1_63del single nucleotide variant Pathogenic rs373864821 GRCh38 Chromosome 10, 125816436: 125816436
34 UROS NM_000375.2(UROS): c.1_63del single nucleotide variant Pathogenic rs373864821 GRCh37 Chromosome 10, 127505005: 127505005
35 UROS NM_000375.2(UROS): c.397dupG (p.Glu133Glyfs) duplication Pathogenic rs796051859 GRCh37 Chromosome 10, 127486712: 127486712
36 UROS NM_000375.2(UROS): c.397dupG (p.Glu133Glyfs) duplication Pathogenic rs796051859 GRCh38 Chromosome 10, 125798143: 125798143
37 UROS NM_000375.2(UROS): c.743C> A (p.Pro248Gln) single nucleotide variant Pathogenic rs121908021 GRCh37 Chromosome 10, 127477492: 127477492
38 UROS NM_000375.2(UROS): c.743C> A (p.Pro248Gln) single nucleotide variant Pathogenic rs121908021 GRCh38 Chromosome 10, 125788923: 125788923
39 UROS UROS, IVS9, T-G, -31 single nucleotide variant Pathogenic
40 UROS NM_000375.2(UROS): c.139T> C (p.Ser47Pro) single nucleotide variant Pathogenic rs397515527 GRCh37 Chromosome 10, 127504754: 127504754
41 UROS NM_000375.2(UROS): c.139T> C (p.Ser47Pro) single nucleotide variant Pathogenic rs397515527 GRCh38 Chromosome 10, 125816185: 125816185
42 UROS NM_000375.2(UROS): c.311C> T (p.Ala104Val) single nucleotide variant Pathogenic rs397515528 GRCh37 Chromosome 10, 127500791: 127500791
43 UROS NM_000375.2(UROS): c.311C> T (p.Ala104Val) single nucleotide variant Pathogenic rs397515528 GRCh38 Chromosome 10, 125812222: 125812222
44 UROS NM_000375.2(UROS): c.-219C> A single nucleotide variant Benign rs4385801 GRCh37 Chromosome 10, 127511790: 127511790
45 UROS NM_000375.2(UROS): c.-219C> A single nucleotide variant Benign rs4385801 GRCh38 Chromosome 10, 125823221: 125823221
46 UROS NM_000375.2(UROS): c.*37G> T single nucleotide variant Uncertain significance rs372132511 GRCh37 Chromosome 10, 127477400: 127477400
47 UROS NM_000375.2(UROS): c.*37G> T single nucleotide variant Uncertain significance rs372132511 GRCh38 Chromosome 10, 125788831: 125788831
48 UROS NM_000375.2(UROS): c.691G> A (p.Ala231Thr) single nucleotide variant Uncertain significance rs780837512 GRCh37 Chromosome 10, 127477544: 127477544
49 UROS NM_000375.2(UROS): c.691G> A (p.Ala231Thr) single nucleotide variant Uncertain significance rs780837512 GRCh38 Chromosome 10, 125788975: 125788975
50 UROS NM_000375.2(UROS): c.327A> C (p.Lys109Asn) single nucleotide variant Uncertain significance rs369561042 GRCh37 Chromosome 10, 127496049: 127496049

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

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 ALAD FECH UROD UROS

Sources for Porphyria, Congenital Erythropoietic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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