EPP
MCID: PRT103
MIFTS: 48

Protoporphyria, Erythropoietic, Autosomal Recessive (EPP) malady

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

Aliases & Classifications for Protoporphyria, Erythropoietic, Autosomal Recessive

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Protoporphyria, Erythropoietic, Autosomal Recessive:

Name: Protoporphyria, Erythropoietic, Autosomal Recessive 52 12
Erythropoietic Protoporphyria 11 71 48 70 27 13 68
Epp 11 48 54 70
Ferrochelatase Deficiency 48 70 68
Protoporphyria 11 71 48
Erythropoietic Protoporphyria, Autosomal Recessive 23 24
 
Protoporphyria, Erythropoietic 52 39
Heme Synthetase Deficiency 48 70
Autosomal Erythropoietic Protoporphyria 54
Protoporphyria Erythropoietic 50
Erythrohepatic Protoporphyria 48
Ferrochelatase 12

Characteristics:

Orphanet epidemiological data:

54
epp:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
protoporphyria, erythropoietic, autosomal recessive:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: childhood onset

GeneReviews:

23
Penetrance: epp appears to be 100% penetrant when there are biallelic fech loss-of-function variants or compound heterozygosity for a fech loss-of-function variant and a variant that causes low expression of the other fech allele...


Classifications:



External Ids:

OMIM52 177000
Disease Ontology11 DOID:13270
ICD1030 E80.0
MeSH39 D046351
NCIt45 C84698
SNOMED-CT62 51022005
Orphanet54 ORPHA79278
ICD10 via Orphanet31 E80.0
MESH via Orphanet40 D046351
UMLS via Orphanet69 C0162568

Summaries for Protoporphyria, Erythropoietic, Autosomal Recessive

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NIH Rare Diseases:48 Erythropoietic protoporphyria is a type of porphyria. porphyrias are caused by an abnormality in the heme production process. heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. erythropoietic protoporphyria is caused by impaired activity of ferrocheletase (fech), an important enzyme in heme production. this results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen. last updated: 6/23/2015

MalaCards based summary: Protoporphyria, Erythropoietic, Autosomal Recessive, also known as erythropoietic protoporphyria, is related to protoporphyria, erythropoietic, x-linked and x-linked protoporphyria, and has symptoms including edema, edema and pruritus. An important gene associated with Protoporphyria, Erythropoietic, Autosomal Recessive is FECH (Ferrochelatase), and among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Affiliated tissues include skin, liver and spleen, and related mouse phenotype integument.

Disease Ontology:11 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

OMIM:52 Erythropoietic protoporphyria is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme... (177000) more...

UniProtKB/Swiss-Prot:70 Erythropoietic protoporphyria: A form of 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. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.

Wikipedia:71 Ferrochelatase (or protoporphyrin ferrochelatase) is an enzyme that is encoded by the FECH gene in... more...

GeneReviews for NBK100826

Related Diseases for Protoporphyria, Erythropoietic, Autosomal Recessive

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Graphical network of diseases related to Protoporphyria, Erythropoietic, Autosomal Recessive:



Diseases related to protoporphyria, erythropoietic, autosomal recessive

Symptoms & Phenotypes for Protoporphyria, Erythropoietic, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

177000

Clinical features from OMIM:

177000

Human phenotypes related to Protoporphyria, Erythropoietic, Autosomal Recessive:

 54 64 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eczema64 54 Occasional (29-5%) HP:0000964
2 edema64 54 Occasional (29-5%) HP:0000969
3 pruritus64 54 Very frequent (99-80%) HP:0000989
4 cutaneous photosensitivity64 54 Very frequent (99-80%) HP:0000992
5 cholelithiasis64 54 Occasional (29-5%) HP:0001081
6 cirrhosis64 54 Occasional (29-5%) HP:0001394
7 decreased liver function64 54 Occasional (29-5%) HP:0001410
8 microcytic anemia64 54 Occasional (29-5%) HP:0001935
9 abnormality of the heme biosynthetic pathway64 54 Very frequent (99-80%) HP:0010472
10 erythema64 54 Very frequent (99-80%) HP:0010783
11 hepatic failure64 HP:0001399
12 hemolytic anemia64 HP:0001878
13 hypertriglyceridemia64 HP:0002155

UMLS symptoms related to Protoporphyria, Erythropoietic, Autosomal Recessive:


edema, pruritus, burning sensation

MGI Mouse Phenotypes related to Protoporphyria, Erythropoietic, Autosomal Recessive according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1ALAS2, FECH, MC1R, PCBD1, UROS

Drugs & Therapeutics for Protoporphyria, Erythropoietic, Autosomal Recessive

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Drugs for Protoporphyria, Erythropoietic, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ColestipolapprovedPhase 2, Phase 3626658-42-4, 50925-79-662816
Synonyms:
Colestipolum
 
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
2alpha-MSHPhase 3, Phase 214
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 213168
4Hormone AntagonistsPhase 3, Phase 213180
5HormonesPhase 3, Phase 214415
6Lipid Regulating AgentsPhase 2, Phase 32766
7Hypolipidemic AgentsPhase 2, Phase 32785
8AntimetabolitesPhase 2, Phase 312054
9cysteineNutraceuticalPhase 3200
10
Aminolevulinic acidapproved165106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid
11
Ironapproved11657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
12
Isoniazidapproved15554-85-33767
Synonyms:
37271-10-6
4-pyridinecarbohydrazide
41466-07-3
5015 R.P
5015 R.P.
5015 RP
54-85-3
62229-51-0
7640-37-1
AB00052025
AC1L1GNZ
AC1Q54UP
AC1Q54UQ
AI3-23936
AKOS000119062
AZT + Isoniazid
Abdizide
Andrazide
Anidrasona
Antimicina
Antituberkulosum
Armacide
Armazid
Armazide
Atcotibine
Azuren
BB_SC-6246
BIDD:GT0140
BP 5015
BPBio1_000025
BPBio1_001322
BSPBio_000021
BSPBio_002204
Bacillin
Biomol-NT_000288
C07054
C6H7N3O
CAS-54-85-3
CCRIS 351
CHEBI:6030
CHEMBL64
CID3767
CPD000059082
Cedin
Cedin (Aerosol)
Cemidon
Chemiazid
Chemidon
Continazine
Cortinazine
Cotinazin
Cotinizin
D00346
D007538
DB00951
Defonin
Dibutin
Diforin
Dinacrin
Ditubin
DivK1c_000070
Dow-Isoniazid
EINECS 200-214-6
Ebidene
Eralon
Ertuban
Eutizon
Evalon
FRS-3
FSR 3
FSR-3
Fetefu
Fimalene
GINK
HIA
HMS1568B03
HMS1920H09
HMS2089I16
HMS2091N19
HMS500D12
HSDB 1647
Hid rasonil
Hidranizil
Hidrasonil
Hidrulta
Hidrun
Hycozid
Hydra
Hydrazid
Hydrazide
Hyozid
Hyzyd
I.A.I
I.A.I.
I0138
I14-9731
I3377_FLUKA
I3377_SIGMA
IDI1_000070
INH
INHd20
Ido-tebin
Idrazil
In-73
Inah
Inh-Burgthal
Inizid
Iscotin
Isidrina
Ismazide
Isobicina
Isocid
Isocidene
Isocotin
Isohydrazide
Isokin
Isolyn
Isonerit
Isonex
Isoniacid
Isoniazid
Isoniazid & EEP
Isoniazid & Propolis
Isoniazid SA
Isoniazida
Isoniazide
Isoniazidum
Isonicazide
Isonicid
Isonico
Isonicotan
Isonicotil
Isonicotinhydrazid
Isonicotinic acid hydrazide
Isonicotinic hydrazide
Isonicotinohydrazide
Isonicotinoyl hydrazide
Isonicotinoylhydrazide
Isonicotinsaeurehydrazid
Isonicotinyl hydrazide
Isonicotinyl hydrazine
Isonicotinylhydrazine
Isonide
Isonidrin
Isonikazid
Isonilex
Isonin
Isonindon
Isonirit
Isoniton
Isonizida
Isonizide
Isopyrin
 
Isotamine
Isotebe
Isotebezid
Isotinyl
Isozid
Isozide
Isozyd
KBio1_000070
KBio2_001333
KBio2_003901
KBio2_006469
KBio3_001424
KBioGR_000423
KBioSS_001333
L 1945
LANIZID
LS-205
Laniazid
Laniazid (TN)
Laniozid
MLS000069444
MLS001055327
MolPort-000-141-557
Mybasan
NCGC00016244-01
NCGC00016244-02
NCGC00022648-03
NCGC00022648-04
NCGC00022648-05
NCGC00022648-06
NINDS_000070
NSC 9659
NSC9659
Neo-Tizide
Neoteben
Neoxin
Neumandin
Nevin
Niadrin
Nicazide
Nicetal
Nicizina
Niconyl
Nicotibina
Nicotibine
Nicotisan
Nicozide
Nidaton
Nidrazid
Nikozid
Niplen
Nitadon
Niteban
Nitebannsc 9659
Nydrazid
Nyscozid
Oprea1_396155
Pelazid
Percin
Phthisen
Preparation 6424
Prestwick0_000161
Prestwick1_000161
Prestwick2_000161
Prestwick3_000161
Prestwick_578
Pycazide
Pyreazid
Pyricidin
Pyridicin
Pyridine-4-carboxylic acid hydrazide
Pyrizidin
RP 5015
RP-5015
RU-EF-Tb
RY-EF-Tb
Raumanon
Razide
Retozide
Rifamate
Rimicid
Rimifon
Rimiphone
Rimitsid
Robiselin
Robisellin
Roxifen
S1937_Selleck
SAM002554904
SMR000059082
SPBio_000094
SPBio_001942
SPECTRUM1500355
STK086288
Sanohidrazina
Sauterazid
Sauterzid
Spectrum2_000107
Spectrum3_000472
Spectrum4_000022
Spectrum5_000876
Spectrum_000853
Stanozide
TB-Phlogin
TB-Razide
TB-Vis
Tebecid
Tebenic
Tebexin
Tebilon
Tebos
Teebaconin
Tekazin
Tibazide
Tibemid
Tibiazide
Tibinide
Tibison
Tibivis
Tibizide
Tibusan
Tisin
Tisiodrazida
Tizide
Tubazid
Tubazide
Tubeco
Tubecotubercid
Tuberian
Tubicon
Tubilysin
Tubizid
Tubomel
Tyvid
UNII-V83O1VOZ8L
Unicocyde
Unicozyde
Usaf cb-2
Vazadrine
Vederon
WLN: T6NJ DVMZ
ZINC00001590
Zidafimia
Zinadon
Zonazide
bacillen
bp 5 015
isoco tin
isoniazid
isozid e
nchembio884-comp3
nidra zid
rimif on
tebemid
tubercid
13
Protoporphyrin IXexperimental9553-12-8
Synonyms:
3,3'-(3,7,12,17-Tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate
3,3'-(3,7,12,17-Tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionic acid
3,3'-(3,7,12,17-Tetramethyl-8,13-divinylporphine-2,18-diyl)di
Kammerer'S prophyrin
Ooporphyrin
 
Porphyrinogen IX
PpIX
Protoporphyrin
Protoporphyrin IX
Protoporphyrin-"IX"
Protoporphyrin-IX
14Protective Agents7443
15
Canthaxanthin1514-78-35281227
Synonyms:
4,4'-Diketo-b-carotene
4,4'-Diketo-beta-carotene
4,4'-Dioxo-beta-carotene
All-trans,beta-Carotene-4,4'-dione
Cantaxanthin
Cantaxanthine
 
Canthaxanthin
Canthaxanthine
Carophyll Red
Food orange 8
L-Orange 7
Orobronze
Roxanthin Red 10
beta,beta-Carotene-4,4'-dione
16Antioxidants3050
17Micronutrients6001
18Trace Elements6001
19Photosensitizing Agents492
20Dermatologic Agents5806
21Anti-Bacterial Agents11226
22Antitubercular Agents1343
23Anti-Infective Agents22062
24Iron SupplementNutraceutical180

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Phase III Confirmatory Study in Erythropoietic ProtoporphyriaUnknown statusNCT01605136Phase 3
2Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT00979745Phase 3
3Phase III Study of L-Cysteine in Patients With Erythropoietic ProtoporphyriaCompletedNCT00004940Phase 3
4Sorbent Therapy of the Cutaneous PorphyriasCompletedNCT01422915Phase 2, Phase 3
5Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT01097044Phase 2
6Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaUnknown statusNCT00206869
7Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
8Canthaxanthin Retinopathy: A Long-term ObservationCompletedNCT01128062
9Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
10Oral Iron for Erythropoietic ProtoporphyriasRecruitingNCT02979249
11Longitudinal Study of the PorphyriasRecruitingNCT01561157
12Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))Active, not recruitingNCT01880983
13Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaTerminatedNCT01550705

Search NIH Clinical Center for Protoporphyria, Erythropoietic, Autosomal Recessive


Cochrane evidence based reviews: protoporphyria, erythropoietic

Genetic Tests for Protoporphyria, Erythropoietic, Autosomal Recessive

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Genetic tests related to Protoporphyria, Erythropoietic, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Erythropoietic Protoporphyria27
2 Erythropoietic Protoporphyria, Autosomal Recessive24 FECH

Anatomical Context for Protoporphyria, Erythropoietic, Autosomal Recessive

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MalaCards organs/tissues related to Protoporphyria, Erythropoietic, Autosomal Recessive:

36
Skin, Liver, Spleen, Bone, Bone marrow

Publications for Protoporphyria, Erythropoietic, Autosomal Recessive

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Variations for Protoporphyria, Erythropoietic, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Protoporphyria, Erythropoietic, Autosomal Recessive:

70 (show all 23)
id Symbol AA change Variation ID SNP ID
1FECHp.Gly55CysVAR_002383rs3848519
2FECHp.Ile186ThrVAR_002384
3FECHp.Met267IleVAR_002385rs118204037
4FECHp.His386ProVAR_002386
5FECHp.Phe417SerVAR_002387rs118204039
6FECHp.Pro62ArgVAR_030553rs150830931
7FECHp.Ile71LysVAR_030554
8FECHp.Gln139LeuVAR_030555
9FECHp.Ser151ProVAR_030556
10FECHp.Glu178LysVAR_030557
11FECHp.Leu182ArgVAR_030558
12FECHp.Tyr191HisVAR_030559
13FECHp.Pro192ThrVAR_030560
14FECHp.Cys236TyrVAR_030561rs761962617
15FECHp.Phe260LeuVAR_030562
16FECHp.Thr283IleVAR_030563
17FECHp.Met288LysVAR_030564
18FECHp.Pro334LeuVAR_030565rs150146721
19FECHp.Val362GlyVAR_030566rs118204040
20FECHp.Lys379AsnVAR_030567
21FECHp.Cys406SerVAR_030568
22FECHp.Cys406TyrVAR_030569
23FECHp.Ser264LeuVAR_054629

Clinvar genetic disease variations for Protoporphyria, Erythropoietic, Autosomal Recessive:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1FECHNM_ 001012515.2(FECH): c.571G> A (p.Ala191Thr)SNVPathogenicrs397514476GRCh37Chr 18, 55233724: 55233724
2FECHNM_ 000140.3(FECH): c.854A> G (p.Gln285Arg)SNVLikely pathogenicrs370708663GRCh37Chr 18, 55222135: 55222135
3FECHNM_ 000140.3(FECH): c.1001C> T (p.Pro334Leu)SNVLikely pathogenicrs150146721GRCh37Chr 18, 55221568: 55221568
4FECHNM_ 001012515.2(FECH): c.1268T> C (p.Phe423Ser)SNVPathogenicrs118204039GRCh37Chr 18, 55217966: 55217966
5FECHNM_ 000140.3(FECH): c.1077+1G> ASNVPathogenicrs786205245GRCh38Chr 18, 57554259: 57554259
6FECHNM_ 000140.3(FECH): c.1137+3A> GSNVPathogenicrs202147607GRCh37Chr 18, 55218544: 55218544
7FECHNM_ 001012515.2(FECH): c.1103T> G (p.Val368Gly)SNVPathogenicrs118204040GRCh37Chr 18, 55218599: 55218599
8FECHNM_ 000140.3(FECH): c.314+2T> GSNVPathogenicrs149067146GRCh37Chr 18, 55240476: 55240476
9FECHNM_ 000140.3(FECH): c.195_ 314delSNVPathogenicrs786205246GRCh38Chr 18, 57573240: 57573240
10FECHNM_ 000140.3(FECH): c.1078_ 1137delSNVPathogenicrs879255507GRCh38Chr 18, 57551317: 57551317
11FECHNM_ 001012515.2(FECH): c.1154delA (p.Lys385Argfs)deletionPathogenicrs764466739GRCh38Chr 18, 57551316: 57551316
12FECHNM_ 000140.3(FECH): c.68_ 194delSNVPathogenicrs786205247GRCh38Chr 18, 57580062: 57580062
13FECHNM_ 000140.3(FECH): c.580_ 584delTACAG (p.Tyr194Leufs)deletionPathogenicrs786205248GRCh37Chr 18, 55233693: 55233697

Expression for genes affiliated with Protoporphyria, Erythropoietic, Autosomal Recessive

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Search GEO for disease gene expression data for Protoporphyria, Erythropoietic, Autosomal Recessive.

Pathways for genes affiliated with Protoporphyria, Erythropoietic, Autosomal Recessive

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GO Terms for genes affiliated with Protoporphyria, Erythropoietic, Autosomal Recessive

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Cellular components related to Protoporphyria, Erythropoietic, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:000575810.5CPOX, PPOX
2mitochondrial inner membraneGO:00057439.7ALAS2, CPOX, FECH, PPOX
3mitochondrionGO:00057398.6ALAS2, CPOX, FECH, PPOX, UROS

Biological processes related to Protoporphyria, Erythropoietic, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1protoporphyrinogen IX metabolic processGO:004650110.5FECH, PPOX
2response to insecticideGO:001708510.3CPOX, FECH
3response to inorganic substanceGO:001003510.1ALAD, CPOX
4response to iron ionGO:001003910.0ALAD, CPOX
5response to metal ionGO:00100389.9ALAD, FECH
6response to arsenic-containing substanceGO:00466859.9ALAD, CPOX, FECH
7response to drugGO:00424939.8ALAD, FECH, PPOX
8response to platinum ionGO:00705419.7ALAD, FECH
9response to lead ionGO:00102889.7ALAD, CPOX, FECH
10response to methylmercuryGO:00515979.4ALAD, CPOX, FECH
11porphyrin-containing compound biosynthetic processGO:00067798.3ALAD, CPOX, FECH, HMBS, PPOX, UROS
12tetrapyrrole biosynthetic processGO:00330148.3ALAD, ALAS2, HMBS, UROS
13protoporphyrinogen IX biosynthetic processGO:00067828.2ALAD, ALAS2, CPOX, HMBS, PPOX, UROS
14heme biosynthetic processGO:00067837.9ALAD, ALAS2, CPOX, FECH, HMBS, PPOX

Molecular functions related to Protoporphyria, Erythropoietic, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lyase activityGO:00168298.6ALAD, FECH, PCBD1, UROS

Sources for Protoporphyria, Erythropoietic, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet