MCID: CHL080
MIFTS: 45

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

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cholestasis, Progressive Familial Intrahepatic 1:

Name: Cholestasis, Progressive Familial Intrahepatic 1 50 12
Byler Disease 46 23 24 52 68 48
Pfic1 46 23 52 68
Progressive Familial Intrahepatic Cholestasis 46 24 52
Fic1 Deficiency 23 24 52
Cholestasis, Progressive Familial Intrahepatic, 1 50 68
Byler Syndrome 23 24
Progressive Familial Intrahepatic Cholestasis, Type 1 23
Progressive Familial Intrahepatic Cholestasis Type 1 52
Cholestasis, Progressive Familial Intrahepatic 3 66
Progressive Familial Intrahepatic Cholestasis 1 46
Familial Intraheparic Cholestasis 1 Deficiency 23
Low ╬│-Gt Familial Intrahepatic Cholestasis 24
Abcb11-Related Intrahepatic Cholestasis 24
 
Atp8b1-Related Intrahepatic Cholestasis 24
Abcb4-Related Intrahepatic Cholestasis 24
Progressive Intrahepatic Cholestasis 66
Cholestasis, Fatal Intrahepatic 46
Greenland Childhood Cholestasis 23
Fatal Intrahepatic Cholestasis 68
Greenland Familial Cholestasis 23
Severe Atp8b1 Deficiency 46
Byler's Disease 46
Mdr3 Deficiency 24
Bsep Deficiency 24
Pfic-1 23
Pfic 52

Characteristics:

Orphanet epidemiological data:

52
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:

62
cholestasis, progressive familial intrahepatic 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 211600
ICD10 via Orphanet29 K76.8
UMLS via Orphanet67 C0268312
MESH via Orphanet38 C535933
MedGen35 C0268312
MeSH37 D002780

Summaries for Cholestasis, Progressive Familial Intrahepatic 1

About this section
OMIM:50 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 ABC-family proteins mediated transport. Affiliated tissues include liver and bone, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

UniProtKB/Swiss-Prot:68 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:24 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:69 Progressive familial intrahepatic cholestasis (PFIC) also called byler\'s disease, refers to a group of... more...

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 1

About this section

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

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

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1abcb11-related intrahepatic cholestasis12.3
2atp8b1-related intrahepatic cholestasis12.3
3cholestasis, progressive familial intrahepatic 311.9
4cholestasis, progressive familial intrahepatic 211.9
5cholestasis, benign recurrent intrahepatic11.3
6atp8b1 deficiency11.0
7lrp5-related autosomal dominant osteopetrosis10.1ABCB11, ATP8B1
8amyotrophic lateral sclerosis 310.0ABCB11, ATP8B1
9ascending cholangitis10.0ABCB11, ABCB4
10bile acid synthesis defect, congenital, 110.0
11cholestasis10.0
12intrahepatic cholestasis10.0
13adult-onset leukoencephalopathy with axonal spheroids and pigmented glia9.8ABCB11, ATP8B1, NR1H4
14erythroleukemia, familial9.7GGT1, JAG1
15lipid storage disease9.7ABCB11, ABCB4, GGT1
16dermatomyositis9.6ABCB4, NR1H4
17perianal skin paget's disease9.6ABCB11, ABCB4, GGT1
18lymphoblastic lymphoma9.5ABCB11, ABCB4, ATP8B1
19dyserythropoietic anemia, congenital, type ii9.5ABCB4, ATP8B1, JAG1
20paranasal sinus sarcoma9.4ABCB11, ABCB4, JAG1
21prostate cancer, progression and metastasis of9.2ABCB11, ABCB4, GGT1, NR1H4
22intraorbital meningioma8.9ABCB11, ABCB4, ATP8B1, GGT1, NR1H4
23perianal hematoma8.9ABCB11, ABCB4, ATP8B1, GGT1, NR1H4
24female infertility of uterine origin8.1ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
25cholestasis, intrahepatic, of pregnancy, 17.5ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
26giant cell reparative granuloma7.5ABCB11, 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 for Cholestasis, Progressive Familial Intrahepatic 1

About this section

Symptoms by clinical synopsis from OMIM:

211600

Clinical features from OMIM:

211600

Symptoms:

 52 (show all 14)
  • jaundice
  • cholestasis
  • failure to thrive
  • splenomegaly
  • abnormality of thrombocytes
  • abnormality of coagulation
  • malabsorption
  • hepatomegaly
  • neoplasm
  • delayed skeletal maturation
  • hypocalcemia
  • short stature
  • reduced bone mineral density
  • cognitive impairment

HPO human phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1:

(show all 22)
id Description Frequency HPO Source Accession
1 splenomegaly hallmark (90%) HP:0001744
2 abnormality of coagulation hallmark (90%) HP:0001928
3 malabsorption hallmark (90%) HP:0002024
4 hepatomegaly hallmark (90%) HP:0002240
5 short stature hallmark (90%) HP:0004322
6 cognitive impairment hallmark (90%) HP:0100543
7 abnormality of thrombocytes typical (50%) HP:0001872
8 delayed skeletal maturation typical (50%) HP:0002750
9 hypocalcemia typical (50%) HP:0002901
10 reduced bone mineral density typical (50%) HP:0004349
11 neoplasm occasional (7.5%) HP:0002664
12 jaundice HP:0000952
13 pruritus HP:0000989
14 cirrhosis HP:0001394
15 failure to thrive HP:0001508
16 splenomegaly HP:0001744
17 diarrhea HP:0002014
18 hepatomegaly HP:0002240
19 fat malabsorption HP:0002630
20 conjugated hyperbilirubinemia HP:0002908
21 severe short stature HP:0003510
22 intrahepatic cholestasis with episodic jaundice HP:0006575

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic 1:


diarrhea, hepatomegaly, pruritus, yellow complexion, hepatocellular jaundice

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 1

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MentholPhase 121842216-51-516666
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
2
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
3pancreatin917
4
Glycerol21056-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin,anhydrous
Glycerine
Glycerinum
Glyceritol
 
Glycerol
Glycerol 85%
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
54-PHENYLBUTYRIC ACID48

Interventional clinical trials:

(show all 11)
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
3Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)RecruitingNCT01161953Phase 1
4Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver DiseaseCompletedNCT02131623
5ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and ControlsCompletedNCT00700232
6Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272
7Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682
8Sulfation of Bile Acids as a Biomarker for Hepatobiliary DiseasesNot yet recruitingNCT01200082
9Buphenyl Therapy for Byler's DiseaseNo longer availableNCT01784718
10Transition From Buphenyl to RAVICTI for the Therapy of Byler DiseaseNo longer availableNCT01949766
11Expanded 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

About this section

Genetic tests related to Cholestasis, Progressive Familial Intrahepatic 1:

id Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis, Type 123

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 1

About this section

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

34
Liver, Bone

Animal Models for Cholestasis, Progressive Familial Intrahepatic 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1ABCB4, JAG1, NR1H4, SLC10A2
2MP:00053707.6ABCB11, ABCB4, ATP8B1, JAG1, NR1H4, SLC10A2
3MP:00053766.7ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
4MP:00053786.4ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4

Publications for Cholestasis, Progressive Familial Intrahepatic 1

About this section

Variations for Cholestasis, Progressive Familial Intrahepatic 1

About this section

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

68 (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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP8B1NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter)single nucleotide variantPathogenicrs515726137GRCh37Chr 18, 55336654: 55336654
2ATP8B1NM_005603.4(ATP8B1): c.625C> A (p.Pro209Thr)single nucleotide variantPathogenicrs515726138GRCh38Chr 18, 57697797: 57697797
3ATP8B1NM_005603.4(ATP8B1): c.923G> T (p.Gly308Val)single nucleotide variantPathogenicrs111033609GRCh37Chr 18, 55362420: 55362420
4NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg)single nucleotide variantPathogenicrs121909098GRCh37Chr 18, 55328439: 55328439
5ATP8B1NM_005603.4(ATP8B1): c.863T> C (p.Leu288Ser)single nucleotide variantPathogenicrs121909099GRCh37Chr 18, 55362480: 55362480
6ATP8B1NM_005603.4(ATP8B1): c.2097+2T> Csingle nucleotide variantPathogenicrs387906381GRCh37Chr 18, 55336548: 55336548
7ATP8B1ATP8B1, 1.4-KB DELdeletionPathogenic
8ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)single nucleotide variantPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
9ATP8B1NM_005603.4(ATP8B1): c.1660G> A (p.Asp554Asn)single nucleotide variantPathogenicrs121909101GRCh37Chr 18, 55342225: 55342225
10ATP8B1NM_005603.4(ATP8B1): c.1367C> T (p.Thr456Met)single nucleotide variantPathogenicrs121909104GRCh37Chr 18, 55355593: 55355593
11ATP8B1NM_005603.4(ATP8B1): c.1804C> T (p.Arg602Ter)single nucleotide variantPathogenicrs121909105GRCh37Chr 18, 55342081: 55342081

Expression for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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

Pathways for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:004658110.0ABCB11, ABCB4
2apical part of cellGO:00451779.3ABCB11, JAG1
3apical plasma membraneGO:00163248.4ABCB4, ATP8B1, JAG1, SLC10A2
4integral component of plasma membraneGO:00058877.8ABCB11, ABCB4, ATP8B1, JAG1, SLC10A2
5plasma membraneGO:00058867.0ABCB11, 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:000685510.2ABCB4, ATP8B1
2phospholipid translocationGO:004533210.2ABCB4, ATP8B1
3bile acid metabolic processGO:000820610.1ATP8B1, NR1H4
4Notch signaling pathwayGO:00072199.1JAG1, NR1H4
5transportGO:00068109.1ABCB11, ABCB4, SLC10A2
6bile acid and bile salt transportGO:00157218.9ABCB11, ATP8B1, NR1H4, SLC10A2

Sources for Cholestasis, Progressive Familial Intrahepatic 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet