MCID: CHL080
MIFTS: 46

Cholestasis, Progressive Familial Intrahepatic 1 malady

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Reproductive diseases, Gastrointestinal diseases

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 1

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cholestasis, Progressive Familial Intrahepatic 1:

Name: Cholestasis, Progressive Familial Intrahepatic 1 52 12
Byler Disease 48 24 25 54 70 50
Pfic1 48 24 54 70
Progressive Familial Intrahepatic Cholestasis 48 25 54
Fic1 Deficiency 24 25 54
Cholestasis, Progressive Familial Intrahepatic, 1 52 70
Byler Syndrome 24 25
Progressive Familial Intrahepatic Cholestasis, Type 1 24
Progressive Familial Intrahepatic Cholestasis Type 1 54
Cholestasis, Progressive Familial Intrahepatic 3 68
Progressive Familial Intrahepatic Cholestasis 1 48
Familial Intraheparic Cholestasis 1 Deficiency 24
Low ╬│-Gt Familial Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
 
Abcb11-Related Intrahepatic Cholestasis 25
Abcb4-Related Intrahepatic Cholestasis 25
Progressive Intrahepatic Cholestasis 68
Cholestasis, Fatal Intrahepatic 48
Greenland Childhood Cholestasis 24
Fatal Intrahepatic Cholestasis 70
Greenland Familial Cholestasis 24
Severe Atp8b1 Deficiency 48
Byler's Disease 48
Mdr3 Deficiency 25
Bsep Deficiency 25
Pfic-1 24
Pfic 54

Characteristics:

Orphanet epidemiological data:

54
progressive familial intrahepatic cholestasis:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy,Neonatal
byler disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
cholestasis, progressive familial intrahepatic 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 211600
UMLS via Orphanet69 C0268312
ICD10 via Orphanet31 K76.8
MESH via Orphanet40 C535933
MedGen37 C0268312
MeSH39 D002780

Summaries for Cholestasis, Progressive Familial Intrahepatic 1

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OMIM:52 Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders... (211600) more...

MalaCards based summary: Cholestasis, Progressive Familial Intrahepatic 1, also known as byler disease, is related to abcb11-related intrahepatic cholestasis and atp8b1-related intrahepatic cholestasis, and has symptoms including splenomegaly, abnormality of coagulation and malabsorption. An important gene associated with Cholestasis, Progressive Familial Intrahepatic 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways are Hepatic ABC Transporters and Drug Induction of Bile Acid Pathway. Affiliated tissues include liver and bone, and related mouse phenotypes are Decreased vaccinia virus (VACV-LREV ) gene expression and digestive/alimentary.

UniProtKB/Swiss-Prot:70 Cholestasis, progressive familial intrahepatic, 1: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

Genetics Home Reference:25 Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.

Wikipedia:71 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 1

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Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic 2 Cholestasis, Benign Recurrent Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic 3 Cholestasis, Progressive Familial Intrahepatic 4
cholestasis, progressive familial intrahepatic 1 Cholestasis, Benign Recurrent Intrahepatic
Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic 5

Diseases related to Cholestasis, Progressive Familial Intrahepatic 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1abcb11-related intrahepatic cholestasis12.2
2atp8b1-related intrahepatic cholestasis12.2
3cholestasis, progressive familial intrahepatic 311.9
4cholestasis, progressive familial intrahepatic 211.9
5cholestasis, benign recurrent intrahepatic11.2
6atp8b1 deficiency10.9
7bile acid synthesis defect, congenital, 110.8
8cholestasis10.0
9intrahepatic cholestasis10.0
10lrp5-related autosomal dominant osteopetrosis10.0ABCB11, ATP8B1
11amyotrophic lateral sclerosis 39.9ABCB11, ATP8B1
12ascending cholangitis9.9ABCB11, ABCB4
13osteomalacia9.8
14adult-onset leukoencephalopathy with axonal spheroids and pigmented glia9.8ABCB11, ATP8B1, NR1H4
15dermatomyositis9.7ABCB4, NR1H4
16erythroleukemia, familial9.7GGT1, JAG1
17lipid storage disease9.6ABCB11, ABCB4, GGT1
18perianal skin paget's disease9.6ABCB11, ABCB4, GGT1
19dyserythropoietic anemia, congenital, type ii9.5ABCB4, ATP8B1, JAG1
20lymphoblastic lymphoma9.5ABCB11, ABCB4, ATP8B1
21paranasal sinus sarcoma9.4ABCB11, ABCB4, JAG1
22prostate cancer, progression and metastasis of9.3ABCB11, ABCB4, GGT1, NR1H4
23intraorbital meningioma9.0ABCB11, ABCB4, ATP8B1, GGT1, NR1H4
24perianal hematoma9.0ABCB11, ABCB4, ATP8B1, GGT1, NR1H4
25female infertility of uterine origin8.3ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
26cholestasis, intrahepatic, of pregnancy, 17.8ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
27giant cell reparative granuloma7.7ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4

Graphical network of the top 20 diseases related to Cholestasis, Progressive Familial Intrahepatic 1:



Diseases related to cholestasis, progressive familial intrahepatic 1

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic 1

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Symptoms by clinical synopsis from OMIM:

211600

Clinical features from OMIM:

211600

Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1:

 64 54 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
2 abnormality of coagulation64 54 hallmark (90%) Very frequent (99-80%) HP:0001928
3 malabsorption64 54 hallmark (90%) Very frequent (99-80%) HP:0002024
4 hepatomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0002240
5 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0100543
7 abnormality of thrombocytes64 54 typical (50%) Frequent (79-30%) HP:0001872
8 delayed skeletal maturation64 54 typical (50%) Frequent (79-30%) HP:0002750
9 hypocalcemia64 54 typical (50%) Frequent (79-30%) HP:0002901
10 reduced bone mineral density64 54 typical (50%) Frequent (79-30%) HP:0004349
11 neoplasm64 54 occasional (7.5%) Occasional (29-5%) HP:0002664
12 jaundice64 54 Very frequent (99-80%) HP:0000952
13 pruritus64 HP:0000989
14 cirrhosis64 HP:0001394
15 failure to thrive64 54 Very frequent (99-80%) HP:0001508
16 diarrhea64 HP:0002014
17 fat malabsorption64 HP:0002630
18 conjugated hyperbilirubinemia64 HP:0002908
19 severe short stature64 HP:0003510
20 intrahepatic cholestasis with episodic jaundice64 HP:0006575
21 cholestasis54 Very frequent (99-80%)

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic 1:


diarrhea, hepatomegaly, pruritus, yellow complexion, hepatocellular jaundice

GenomeRNAi Phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00351-A-210.1ATP8B1, JAG1

MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0ABCB4, JAG1, NR1H4, SLC10A2
2MP:00053787.5ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
3MP:00053767.5ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
4MP:00053707.3ABCB11, ABCB4, ATP8B1, JAG1, NR1H4, SLC10A2

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 1

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Drugs for Cholestasis, Progressive Familial Intrahepatic 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver ExtractsPhase 2, Phase 13868
2Bile Acids and SaltsPhase 2102
3
MentholapprovedPhase 123532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
4Anticholesteremic AgentsPhase 11983
5AntimetabolitesPhase 111774
6Lipid Regulating AgentsPhase 12702
7Hypolipidemic AgentsPhase 12721
8Cholestyramine ResinPhase 116
9ColaNutraceuticalPhase 11881
10
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
11
Glycerolexperimental, approved22356-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
12Estrogens2470
13Alpha 1-Antitrypsin99
14pancreatin935
15Protein C Inhibitor97
16Protective Agents7190
174-phenylbutyric acid48

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic CholestasisActive, not recruitingNCT02057718Phase 2
2Second-line Therapy of Unresectable Cholangiocarcinoma by RADIOEMBOLIZATIONTerminatedNCT01383746Phase 1, Phase 2
3A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384CompletedNCT02963077Phase 1
4Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)RecruitingNCT01161953Phase 1
5Sulfation of Bile Acids as a Biomarker for Hepatobiliary DiseasesUnknown statusNCT01200082
6Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver DiseaseCompletedNCT02131623
7ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and ControlsCompletedNCT00700232
8Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272
9Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682
10Buphenyl Therapy for Byler's DiseaseNo longer availableNCT01784718
11Transition From Buphenyl to RAVICTI for the Therapy of Byler DiseaseNo longer availableNCT01949766
12Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler DiseaseTemporarily not availableNCT02094222

Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic 1

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic 1

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Genetic tests related to Cholestasis, Progressive Familial Intrahepatic 1:

id Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis, Type 124

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 1

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MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic 1:

36
Liver, Bone

Publications for Cholestasis, Progressive Familial Intrahepatic 1

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Variations for Cholestasis, Progressive Familial Intrahepatic 1

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UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 1:

70 (show all 17)
id Symbol AA change Variation ID SNP ID
1ATP8B1p.Leu288SerVAR_008809rs121909099
2ATP8B1p.Gly308ValVAR_008810rs28939685
3ATP8B1p.Ile661ThrVAR_008812rs28939686
4ATP8B1p.Gly892ArgVAR_008813rs121909098
5ATP8B1p.Asp554AsnVAR_015423rs121909101
6ATP8B1p.Leu127ProVAR_043046
7ATP8B1p.Ser403TyrVAR_043053
8ATP8B1p.Arg412ProVAR_043054
9ATP8B1p.Thr456MetVAR_043058rs121909104
10ATP8B1p.Tyr500HisVAR_043059rs147642236
11ATP8B1p.His535LeuVAR_043061
12ATP8B1p.Asp688GlyVAR_043067
13ATP8B1p.Gly733ArgVAR_043069
14ATP8B1p.Phe853SerVAR_043071rs773092889
15ATP8B1p.Gly1040ArgVAR_043073
16ATP8B1p.Pro209ThrVAR_071045rs515726138
17ATP8B1p.Ser1012IleVAR_071046

Clinvar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 1:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP8B1NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter)SNVPathogenicrs515726137GRCh37Chr 18, 55336654: 55336654
2ATP8B1NM_005603.4(ATP8B1): c.625C> A (p.Pro209Thr)SNVPathogenicrs515726138GRCh38Chr 18, 57697797: 57697797
3ABCB4NM_018849.2(ABCB4): c.394_400delTATATAC (p.Tyr132Lysfs)deletionPathogenicrs387906526GRCh37Chr 7, 87082396: 87082402
4ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)SNVPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264
5ABCB4NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs)deletionPathogenicrs387906527GRCh37Chr 7, 87069002: 87069002
6ABCB4NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe)SNVPathogenicrs72552778GRCh37Chr 7, 87076396: 87076396
7ABCB4NM_018849.2(ABCB4): c.2169dupG (p.Leu724Alafs)duplicationPathogenicrs387906529GRCh37Chr 7, 87053264: 87053264
8ABCB4NM_018849.2(ABCB4): c.1207T> C (p.Tyr403His)SNVPathogenicrs121918443GRCh37Chr 7, 87073002: 87073002
9ABCB4NM_018849.2(ABCB4): c.2211+1G> ASNVPathogenicrs794727183GRCh37Chr 7, 87053221: 87053221
10NR1H4NM_005123.3(NR1H4): c.419_420insAAA (p.Tyr139_Asn140insLys)insertionPathogenicrs879255644GRCh37Chr 12, 100904895: 100904896
11NR1H4NC_000012.11: g.100886254_100917988del31735deletionPathogenicGRCh37Chr 12, 100886254: 100917988
12NR1H4NM_005123.3(NR1H4): c.526C> T (p.Arg176Ter)SNVPathogenicrs113090017GRCh37Chr 12, 100926316: 100926316
13ABCB4NM_018849.2(ABCB4): c.2833C> T (p.Gln945Ter)SNVPathogenicrs886042562GRCh37Chr 7, 87041300: 87041300
14ABCB4NM_018849.2(ABCB4): c.2626A> T (p.Lys876Ter)SNVPathogenicrs886043725GRCh37Chr 7, 87046684: 87046684
15ABCB4NM_018849.2(ABCB4): c.2625_2626delGAinsAT (p.Met875_Lys876delinsIleTer)indelPathogenicrs886043734GRCh37Chr 7, 87046684: 87046685
16ATP8B1NM_005603.4(ATP8B1): c.3410C> G (p.Ser1137Ter)SNVPathogenicrs74414989GRCh37Chr 18, 55317720: 55317720
17ATP8B1NM_005603.4(ATP8B1): c.279G> A (p.Ala93=)SNVPathogenicrs761575295GRCh37Chr 18, 55373722: 55373722
18ATP8B1NM_005603.4(ATP8B1): c.923G> T (p.Gly308Val)SNVPathogenicrs111033609GRCh37Chr 18, 55362420: 55362420
19ATP8B1NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg)SNVPathogenicrs121909098GRCh37Chr 18, 55328439: 55328439
20ATP8B1NM_005603.4(ATP8B1): c.863T> C (p.Leu288Ser)SNVPathogenicrs121909099GRCh37Chr 18, 55362480: 55362480
21ATP8B1NM_005603.4(ATP8B1): c.2097+2T> CSNVPathogenicrs387906381GRCh37Chr 18, 55336548: 55336548
22ATP8B1ATP8B1, 1.4-KB DELdeletionPathogenicChr na, -1: -1
23ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)SNVPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
24ATP8B1NM_005603.4(ATP8B1): c.1660G> A (p.Asp554Asn)SNVPathogenicrs121909101GRCh37Chr 18, 55342225: 55342225
25ATP8B1NM_005603.4(ATP8B1): c.1367C> T (p.Thr456Met)SNVPathogenicrs121909104GRCh37Chr 18, 55355593: 55355593
26ATP8B1NM_005603.4(ATP8B1): c.1804C> T (p.Arg602Ter)SNVPathogenicrs121909105GRCh37Chr 18, 55342081: 55342081

Expression for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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Search GEO for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic 1.

Pathways for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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GO Terms for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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Cellular components related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:004658110.3ABCB11, ABCB4
2apical part of cellGO:00451779.9ABCB11, JAG1
3apical plasma membraneGO:00163249.0ABCB4, ATP8B1, JAG1, SLC10A2
4integral component of plasma membraneGO:00058878.5ABCB11, ABCB4, ATP8B1, JAG1, SLC10A2
5plasma membraneGO:00058867.2ABCB11, ABCB4, ATP8B1, GGT1, JAG1, SLC10A2

Biological processes related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1drug transmembrane transportGO:000685510.4ABCB4, ATP8B1
2phospholipid translocationGO:004533210.4ABCB4, ATP8B1
3bile acid metabolic processGO:000820610.4ATP8B1, NR1H4
4Notch signaling pathwayGO:00072199.9JAG1, NR1H4
5bile acid and bile salt transportGO:00157219.2ABCB11, ATP8B1, NR1H4, SLC10A2
6transportGO:00068108.9ABCB11, ABCB4, SLC10A2

Sources for Cholestasis, Progressive Familial Intrahepatic 1

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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
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57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet