MCID: PRP082
MIFTS: 55

Porphyria, Congenital Erythropoietic

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases, Metabolic diseases, Blood 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 and chromosomal disease. 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 Deferasirox and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are recurrent corneal erosions and blepharitis

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

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

# Related Disease Score Top Affiliating Genes
1 porphyria 27.5 ALAD CPOX FECH GATA1 HMBS UROD
2 chromosomal disease 9.6 GATA1 UROD
3 cutaneous porphyria 9.3 FECH UROD UROS
4 anemia, sideroblastic, 1 9.0 ALAD FECH UROS
5 protoporphyria, erythropoietic 7.6 ALAD CPOX FECH HMBS UROS
6 porphyria, acute intermittent 7.2 ALAD CPOX FECH HMBS UROD UROS
7 porphyria variegata 7.2 ALAD CPOX FECH HMBS UROD UROS
8 acute porphyria 7.2 ALAD CPOX FECH HMBS UROD UROS
9 porphyria cutanea tarda 7.1 ALAD CPOX FECH HMBS UROD UROS
10 coproporphyria, hereditary 6.8 ALAD CPOX FECH GATA1 HMBS UROD

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

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

MGI Mouse Phenotypes related to Porphyria, Congenital Erythropoietic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 FECH GATA1 UROD UROS

Drugs & Therapeutics for Porphyria, Congenital Erythropoietic

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
2
Iron Approved Phase 3,Phase 2,Not Applicable 7439-89-6 23925
3
Colestipol Approved Phase 2, Phase 3 26658-42-4
4 alpha-MSH Phase 3,Phase 2 581-05-5
5 Hormone Antagonists Phase 3,Phase 2,Not Applicable
6 Hormones Phase 3,Phase 2,Not Applicable
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
8 Chelating Agents Phase 3,Phase 2
9 Iron Chelating Agents Phase 3,Phase 2
10 Antimetabolites Phase 2, Phase 3,Not Applicable
11 Hypolipidemic Agents Phase 2, Phase 3,Not Applicable
12 Lipid Regulating Agents Phase 2, Phase 3,Not Applicable
13 cysteine Nutraceutical Phase 3,Not Applicable
14
Hydroxychloroquine Approved Phase 2 118-42-3 3652
15
Ledipasvir Approved Phase 2 1256388-51-8 67505836
16
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
17
Tin Phase 1, Phase 2,Phase 2 7440-31-5
18 Tin mesoporphyrin Phase 1, Phase 2,Phase 2
19 Anti-Infective Agents Phase 2,Not Applicable
20 Antimalarials Phase 2
21 Antiparasitic Agents Phase 2
22 Antiprotozoal Agents Phase 2
23 Antirheumatic Agents Phase 2
24 Antiviral Agents Phase 2
25 Ledipasvir, sofosbuvir drug combination Phase 2
26
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
27
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
28 Liver Extracts Phase 1
29 Antiemetics Phase 1
30 Antipsychotic Agents Phase 1
31 Autonomic Agents Phase 1
32 Central Nervous System Depressants Phase 1
33 Dopamine Agents Phase 1
34 Dopamine Antagonists Phase 1
35 Gastrointestinal Agents Phase 1
36 Neurotransmitter Agents Phase 1
37 Peripheral Nervous System Agents Phase 1
38 Psychotropic Drugs Phase 1
39 Tranquilizing Agents Phase 1
40
Aminolevulinic acid Approved ,Not Applicable 106-60-5 137
41
Isoniazid Approved, Investigational Not Applicable 54-85-3 3767
42
Protoporphyrin IX Experimental Not Applicable 553-12-8
43 Micronutrients Not Applicable
44 Trace Elements Not Applicable
45 Anti-Bacterial Agents Not Applicable
46 Antitubercular Agents Not Applicable
47 Dermatologic Agents Not Applicable
48 Photosensitizing Agents Not Applicable
49 Iron Supplement Nutraceutical Not Applicable

Interventional clinical trials:

(show all 45)
# 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) 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) Recruiting NCT03505853 Phase 1 Givosiran;5-probe cocktail
26 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
27 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869 Not Applicable
28 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
29 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
30 Study of Nutritional Factors in Porphyria Completed NCT00004788
31 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 Not Applicable luteinizing hormone-releasing factor
32 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
33 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
34 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 Not Applicable cysteine hydrochloride
35 Study to Describe the Actual Situation of Hepatitis C Treatment in Brazil Completed NCT02773394
36 Longitudinal Study of the Porphyrias Recruiting NCT01561157
37 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
38 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
39 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Recruiting NCT03547297
40 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
41 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
42 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
43 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
44 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
45 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, B Cells, Myeloid

Publications for Porphyria, Congenital Erythropoietic

Articles related to Porphyria, Congenital Erythropoietic:

(show top 50) (show all 200)
# 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
Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review. ( 28329491 )
2017
3
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. ( 28334762 )
2017
4
A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations. ( 26957860 )
2016
5
Advances in understanding the pathogenesis of congenital erythropoietic porphyria. ( 26969896 )
2016
6
Congenital Erythropoietic Porphyria with Undescended Testis. ( 27512208 )
2016
7
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. ( 27859603 )
2016
8
Congenital Erythropoietic Porphyria With Calcific Constrictive Pericarditis: A Case Report and Brief Review of Literature. ( 26467880 )
2015
9
Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1. ( 26392207 )
2015
10
Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature. ( 26903733 )
2015
11
Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria. ( 25092523 )
2014
12
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. ( 25251786 )
2014
13
Congenital erythropoietic porphyria: a case in which symptoms were precipitated by an unrelated anaemia. ( 24601890 )
2014
14
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. ( 24925316 )
2014
15
Pseudoxanthoma elasticum-like skin lesions with congenital erythropoietic porphyria. ( 25091813 )
2014
16
Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria. ( 23953398 )
2014
17
Brothers with congenital erythropoietic porphyria. ( 24485140 )
2014
18
Development of corticobasal syndrome in a patient with congenital erythropoietic porphyria. ( 24388147 )
2013
19
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options. ( 23612387 )
2013
20
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. ( 24145442 )
2013
21
Manifestations and treatment of the hand in adult congenital erythropoietic porphyria. ( 24048109 )
2013
22
Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient. ( 23626549 )
2013
23
Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria. ( 24192686 )
2013
24
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation. ( 23557135 )
2013
25
A Case of Congenital Erythropoietic Porphyria without Hemolysis. ( 24082206 )
2013
26
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. ( 22804244 )
2012
27
Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty. ( 22199075 )
2012
28
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors. ( 22795135 )
2012
29
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria. ( 22350154 )
2012
30
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. ( 22816431 )
2012
31
A puzzling mutation in congenital erythropoietic porphyria and an association with I^-thalassaemia trait. ( 22429022 )
2012
32
A molecular study of congenital erythropoietic porphyria in cattle. ( 22404357 )
2012
33
Congenital erythropoietic porphyria: bringing evidence-based practice to a rare disease. ( 23013311 )
2012
34
Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria. ( 21326293 )
2011
35
Congenital erythropoietic porphyria: two case reports. ( 21572804 )
2011
36
Congenital erythropoietic porphyria and Parkinson's disease: clinical association in a patient with a long-term follow-up. ( 21840789 )
2011
37
Severe neonatal congenital erythropoietic porphyria. ( 21362030 )
2011
38
Scleral necrosis in a patient with congenital erythropoietic porphyria. ( 20847674 )
2011
39
Erythrodontia in congenital erythropoietic porphyria. ( 21731282 )
2011
40
Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. ( 21365124 )
2011
41
Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria. ( 21570665 )
2011
42
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. ( 21653323 )
2011
43
Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met). ( 22090724 )
2011
44
Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation. ( 20586119 )
2010
45
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. ( 20485863 )
2010
46
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. ( 19965637 )
2010
47
Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria. ( 18647208 )
2009
48
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. ( 19268002 )
2009
49
Congenital erythropoietic porphyria: anesthetic implications. ( 19921367 )
2009
50
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. ( 19099412 )
2009

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 77)
# Gene Variation Type Significance SNP ID Assembly Location
1 UROS UROS, 80-BP INS insertion Pathogenic
2 UROS NM_000375.2(UROS): c.148_244del (p.Leu50Serfs) deletion Pathogenic
3 UROS NM_000375.2(UROS): c.217T> C (p.Cys73Arg) single nucleotide variant Pathogenic rs121908012 GRCh37 Chromosome 10, 127503630: 127503630
4 UROS NM_000375.2(UROS): c.217T> C (p.Cys73Arg) single nucleotide variant Pathogenic rs121908012 GRCh38 Chromosome 10, 125815061: 125815061
5 UROS NM_000375.2(UROS): c.158C> T (p.Pro53Leu) single nucleotide variant Pathogenic rs121908013 GRCh37 Chromosome 10, 127503689: 127503689
6 UROS NM_000375.2(UROS): c.158C> T (p.Pro53Leu) single nucleotide variant Pathogenic rs121908013 GRCh38 Chromosome 10, 125815120: 125815120
7 UROS NM_000375.2(UROS): c.197C> T (p.Ala66Val) single nucleotide variant Pathogenic rs28941774 GRCh37 Chromosome 10, 127503650: 127503650
8 UROS NM_000375.2(UROS): c.197C> T (p.Ala66Val) single nucleotide variant Pathogenic rs28941774 GRCh38 Chromosome 10, 125815081: 125815081
9 UROS NM_000375.2(UROS): c.184A> G (p.Thr62Ala) single nucleotide variant Pathogenic rs28941775 GRCh37 Chromosome 10, 127503663: 127503663
10 UROS NM_000375.2(UROS): c.184A> G (p.Thr62Ala) single nucleotide variant Pathogenic rs28941775 GRCh38 Chromosome 10, 125815094: 125815094
11 UROS NM_000375.2(UROS): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs121908014 GRCh37 Chromosome 10, 127477552: 127477552
12 UROS NM_000375.2(UROS): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs121908014 GRCh38 Chromosome 10, 125788983: 125788983
13 UROS NM_000375.2(UROS): c.10C> T (p.Leu4Phe) single nucleotide variant Pathogenic rs121908015 GRCh37 Chromosome 10, 127505059: 127505059
14 UROS NM_000375.2(UROS): c.10C> T (p.Leu4Phe) single nucleotide variant Pathogenic rs121908015 GRCh38 Chromosome 10, 125816490: 125816490
15 UROS NM_000375.2(UROS): c.562G> A (p.Gly188Arg) single nucleotide variant Pathogenic rs121908017 GRCh37 Chromosome 10, 127483547: 127483547
16 UROS NM_000375.2(UROS): c.562G> A (p.Gly188Arg) single nucleotide variant Pathogenic rs121908017 GRCh38 Chromosome 10, 125794978: 125794978
17 UROS NM_000375.2(UROS): c.243A> T (p.Glu81Asp) single nucleotide variant Pathogenic rs121908018 GRCh37 Chromosome 10, 127503604: 127503604
18 UROS NM_000375.2(UROS): c.243A> T (p.Glu81Asp) single nucleotide variant Pathogenic rs121908018 GRCh38 Chromosome 10, 125815035: 125815035
19 UROS NM_000375.2(UROS): c.562G> T (p.Gly188Trp) single nucleotide variant Pathogenic rs121908017 GRCh37 Chromosome 10, 127483547: 127483547
20 UROS NM_000375.2(UROS): c.562G> T (p.Gly188Trp) single nucleotide variant Pathogenic rs121908017 GRCh38 Chromosome 10, 125794978: 125794978
21 UROS NM_000375.2(UROS): c.-26-177T> C single nucleotide variant Pathogenic rs397515348 GRCh37 Chromosome 10, 127505271: 127505271
22 UROS NM_000375.2(UROS): c.-26-177T> C single nucleotide variant Pathogenic rs397515348 GRCh38 Chromosome 10, 125816702: 125816702
23 UROS NM_000375.2(UROS): c.-26-183G> A single nucleotide variant Pathogenic rs397515349 GRCh37 Chromosome 10, 127505277: 127505277
24 UROS NM_000375.2(UROS): c.-26-183G> A single nucleotide variant Pathogenic rs397515349 GRCh38 Chromosome 10, 125816708: 125816708
25 UROS NM_000375.2(UROS): c.-26-193C> A single nucleotide variant Pathogenic rs397515350 GRCh37 Chromosome 10, 127505287: 127505287
26 UROS NM_000375.2(UROS): c.-26-193C> A single nucleotide variant Pathogenic rs397515350 GRCh38 Chromosome 10, 125816718: 125816718
27 UROS NM_000375.2(UROS): c.-26-197C> A single nucleotide variant Pathogenic rs397515351 GRCh37 Chromosome 10, 127505291: 127505291
28 UROS NM_000375.2(UROS): c.-26-197C> A single nucleotide variant Pathogenic rs397515351 GRCh38 Chromosome 10, 125816722: 125816722
29 UROS NM_000375.2(UROS): c.673G> A (p.Gly225Ser) single nucleotide variant Pathogenic rs121908020 GRCh37 Chromosome 10, 127477562: 127477562
30 UROS NM_000375.2(UROS): c.673G> A (p.Gly225Ser) single nucleotide variant Pathogenic rs121908020 GRCh38 Chromosome 10, 125788993: 125788993
31 UROS NM_000375.2(UROS): c.1_63del single nucleotide variant Pathogenic rs373864821 GRCh38 Chromosome 10, 125816436: 125816436
32 UROS NM_000375.2(UROS): c.1_63del single nucleotide variant Pathogenic rs373864821 GRCh37 Chromosome 10, 127505005: 127505005
33 UROS NM_000375.2(UROS): c.397dupG (p.Glu133Glyfs) duplication Pathogenic rs796051859 GRCh37 Chromosome 10, 127486712: 127486712
34 UROS NM_000375.2(UROS): c.397dupG (p.Glu133Glyfs) duplication Pathogenic rs796051859 GRCh38 Chromosome 10, 125798143: 125798143
35 UROS NM_000375.2(UROS): c.743C> A (p.Pro248Gln) single nucleotide variant Pathogenic rs121908021 GRCh37 Chromosome 10, 127477492: 127477492
36 UROS NM_000375.2(UROS): c.743C> A (p.Pro248Gln) single nucleotide variant Pathogenic rs121908021 GRCh38 Chromosome 10, 125788923: 125788923
37 UROS UROS, IVS9, T-G, -31 single nucleotide variant Pathogenic
38 UROS NM_000375.2(UROS): c.139T> C (p.Ser47Pro) single nucleotide variant Pathogenic rs397515527 GRCh37 Chromosome 10, 127504754: 127504754
39 UROS NM_000375.2(UROS): c.139T> C (p.Ser47Pro) single nucleotide variant Pathogenic rs397515527 GRCh38 Chromosome 10, 125816185: 125816185
40 UROS NM_000375.2(UROS): c.311C> T (p.Ala104Val) single nucleotide variant Pathogenic rs397515528 GRCh37 Chromosome 10, 127500791: 127500791
41 UROS NM_000375.2(UROS): c.311C> T (p.Ala104Val) single nucleotide variant Pathogenic rs397515528 GRCh38 Chromosome 10, 125812222: 125812222
42 UROS NM_000375.2(UROS): c.-219C> A single nucleotide variant Benign rs4385801 GRCh37 Chromosome 10, 127511790: 127511790
43 UROS NM_000375.2(UROS): c.-219C> A single nucleotide variant Benign rs4385801 GRCh38 Chromosome 10, 125823221: 125823221
44 UROS NM_000375.2(UROS): c.*37G> T single nucleotide variant Uncertain significance rs372132511 GRCh37 Chromosome 10, 127477400: 127477400
45 UROS NM_000375.2(UROS): c.*37G> T single nucleotide variant Uncertain significance rs372132511 GRCh38 Chromosome 10, 125788831: 125788831
46 UROS NM_000375.2(UROS): c.691G> A (p.Ala231Thr) single nucleotide variant Uncertain significance rs780837512 GRCh37 Chromosome 10, 127477544: 127477544
47 UROS NM_000375.2(UROS): c.691G> A (p.Ala231Thr) single nucleotide variant Uncertain significance rs780837512 GRCh38 Chromosome 10, 125788975: 125788975
48 UROS NM_000375.2(UROS): c.327A> C (p.Lys109Asn) single nucleotide variant Uncertain significance rs369561042 GRCh37 Chromosome 10, 127496049: 127496049
49 UROS NM_000375.2(UROS): c.327A> C (p.Lys109Asn) single nucleotide variant Uncertain significance rs369561042 GRCh38 Chromosome 10, 125807480: 125807480
50 UROS NM_000375.2(UROS): c.-232G> A single nucleotide variant Uncertain significance rs886046815 GRCh37 Chromosome 10, 127511803: 127511803

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to lead ion GO:0010288 9.61 ALAD CPOX FECH
2 response to arsenic-containing substance GO:0046685 9.58 ALAD CPOX FECH
3 protoporphyrinogen IX biosynthetic process GO:0006782 9.55 ALAD CPOX HMBS UROD UROS
4 response to methylmercury GO:0051597 9.54 ALAD CPOX FECH
5 response to ethanol GO:0045471 9.52 ALAD FECH
6 response to metal ion GO:0010038 9.51 ALAD FECH
7 tetrapyrrole biosynthetic process GO:0033014 9.5 ALAD HMBS UROS
8 response to iron ion GO:0010039 9.49 ALAD CPOX
9 response to inorganic substance GO:0010035 9.48 ALAD CPOX
10 response to insecticide GO:0017085 9.46 CPOX FECH
11 response to platinum ion GO:0070541 9.43 ALAD FECH UROS
12 heme biosynthetic process GO:0006783 9.43 ALAD CPOX FECH HMBS UROD UROS
13 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

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