MCID: CHL080
MIFTS: 41

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:
65UMLS, 49OMIM, 11diseasecard, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 45NIH Rare Diseases, 47Novoseek, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cholestasis, Progressive Familial Intrahepatic 1:

Name: Cholestasis, Progressive Familial Intrahepatic 1 49 11
Byler Disease 45 22 23 47 51 67
Pfic1 45 22 51 67
Progressive Familial Intrahepatic Cholestasis 45 23 51
Fic1 Deficiency 22 23 51
Byler Syndrome 22 23
Progressive Familial Intrahepatic Cholestasis, Type 1 22
Progressive Familial Intrahepatic Cholestasis Type 1 51
Cholestasis, Progressive Familial Intrahepatic, 1 67
Cholestasis, Progressive Familial Intrahepatic 3 65
Progressive Familial Intrahepatic Cholestasis 1 45
Familial Intraheparic Cholestasis 1 Deficiency 22
Low ╬│-Gt Familial Intrahepatic Cholestasis 23
Abcb11-Related Intrahepatic Cholestasis 23
 
Atp8b1-Related Intrahepatic Cholestasis 23
Abcb4-Related Intrahepatic Cholestasis 23
Progressive Intrahepatic Cholestasis 65
Greenland Childhood Cholestasis 22
Cholestasis, Fatal Intrahepatic 45
Greenland Familial Cholestasis 22
Fatal Intrahepatic Cholestasis 67
Severe Atp8b1 Deficiency 45
Mdr3 Deficiency 23
Byler's Disease 45
Bsep Deficiency 23
Pfic-1 22
Pfic 51

Characteristics:

Orphanet epidemiological data:

51
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:

61
cholestasis, progressive familial intrahepatic 1:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 211600
Orphanet51 172, 79306
ICD10 via Orphanet28 K76.8
UMLS via Orphanet66 C0268312
MESH via Orphanet37 C535933
MedGen34 C0268312
MeSH36 D002780
UMLS65 C0268312, C1865643

Summaries for Cholestasis, Progressive Familial Intrahepatic 1

About this section
OMIM:49 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 cholestasis, progressive familial intrahepatic 2 and cholestasis, benign recurrent intrahepatic, 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:67 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:23 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:68 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 46)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis, progressive familial intrahepatic 233.2ABCB11, ABCB4, ATP8B1
2cholestasis, benign recurrent intrahepatic30.2ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
3abcb11-related intrahepatic cholestasis12.7
4atp8b1-related intrahepatic cholestasis12.7
5cholestasis, progressive familial intrahepatic 312.3
6atp8b1 deficiency11.4
7bile acid synthesis defect, congenital, 110.3
8ductal carcinoma in situ10.3
9open-angle glaucoma10.3
10peritoneal mesothelioma10.3
11retinitis10.3
12peritonitis10.3
13malignant peritoneal mesothelioma10.3
14neuroblastoma10.3
15hepatocellular carcinoma10.3
16rheumatoid arthritis10.3
17arthritis10.3
18cerebral palsy10.3
19osteoarthritis10.3
20spastic cerebral palsy10.3
21esophagitis10.3
22cervicitis10.3
23anuria10.3
24cerebritis10.3
25athetosis10.3
26spasticity10.3
27orthostatic intolerance10.2
28lymphoma10.2
29obesity10.1
30lrba-related common variable immune deficiency with autoimmunity10.1ABCB11, ATP8B1
31acid sphingomyelinase deficiency10.1ATP8B1, NR1H4
32cholestasis, intrahepatic, of pregnancy, 110.1ABCB11, ATP8B1
33rectum signet ring adenocarcinoma9.9ABCB11, GGT1
34pinta disease9.9ABCB4, NR1H4
35suppurative cholangitis9.8ABCB11, ABCB4, NR1H4
36fatty liver disease9.8ABCB11, ABCB4
37autoimmune disease of blood9.8ABCB4, GGT1, NR1H4
38lymphedema9.8ABCB11, ABCB4, ATP8B1
39macrocephaly, alopecia, cutis laxa, and scoliosis9.7ABCB4, ATP8B1, JAG1
40extrahepatic cholestasis9.5ABCB11, JAG1, NR1H4
41primary ciliary dyskinesia9.5ABCB11, ABCB4, GGT1, NR1H4
42cholestasis, intrahepatic, of pregnancy, 39.4ABCB11, ABCB4, ATP8B1, JAG1
43biliary dyskinesia9.3ABCB11, ABCB4, ATP8B1, GGT1, NR1H4
44pelvic varices9.3ABCB11, ABCB4, ATP8B1, GGT1, NR1H4
45jaw cancer8.4ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
46alveolar periostitis8.4ABCB11, 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:

 51 (show all 14)
  • malabsorption/chronic diarrhea/steatorrhea
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • clotting/hemostasis disorders
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • delayed bone age
  • platelet disorders/thrombopathies
  • hypocalcemia
  • neoplasms/tumors

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 intrahepatic cholestasis with episodic jaundice HP:0006575
13 severe short stature HP:0003510
14 conjugated hyperbilirubinemia HP:0002908
15 fat malabsorption HP:0002630
16 hepatomegaly HP:0002240
17 diarrhea HP:0002014
18 splenomegaly HP:0001744
19 failure to thrive HP:0001508
20 cirrhosis HP:0001394
21 pruritus HP:0000989
22 jaundice HP:0000952

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):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver ExtractsPhase 2, Phase 13572
2Bile Acids and SaltsPhase 286
3
MentholapprovedPhase 119992216-51-516666
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
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
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
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
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
4
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
5
Glycerolexperimental19156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
6Estrogens2144
7Alpha 1-Antitrypsin87
8pancreatin880
9Protein C Inhibitor85
104-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 122

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 1

About this section

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1ABCB4, JAG1, NR1H4, SLC10A2
2MP:00053707.5ABCB11, ABCB4, ATP8B1, JAG1, NR1H4, SLC10A2
3MP:00053786.7ABCB11, ABCB4, ATP8B1, GGT1, JAG1, NR1H4
4MP:00053766.4ABCB11, 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:

67 (show all 17)
id Symbol AA change Variation ID SNP ID
1ATP8B1p.Leu288SerVAR_008809
2ATP8B1p.Gly308ValVAR_008810rs28939685
3ATP8B1p.Ile661ThrVAR_008812rs28939686
4ATP8B1p.Gly892ArgVAR_008813
5ATP8B1p.Asp554AsnVAR_015423
6ATP8B1p.Leu127ProVAR_043046
7ATP8B1p.Ser403TyrVAR_043053
8ATP8B1p.Arg412ProVAR_043054
9ATP8B1p.Thr456MetVAR_043058
10ATP8B1p.Tyr500HisVAR_043059
11ATP8B1p.His535LeuVAR_043061
12ATP8B1p.Asp688GlyVAR_043067
13ATP8B1p.Gly733ArgVAR_043069
14ATP8B1p.Phe853SerVAR_043071
15ATP8B1p.Gly1040ArgVAR_043073
16ATP8B1p.Pro209ThrVAR_071045
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
1membraneGO:00160208.6ABCB11, ABCB4, ATP8B1, SLC10A2

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

idNameGO IDScoreTop Affiliating Genes
1drug transmembrane transportGO:000685510.0ABCB4, ATP8B1
2Notch signaling pathwayGO:00072199.1JAG1, NR1H4

Sources for Cholestasis, Progressive Familial Intrahepatic 1

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet