PFIC2
MCID: CHL136
MIFTS: 57

Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2)

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

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 2

MalaCards integrated aliases for Cholestasis, Progressive Familial Intrahepatic, 2:

Name: Cholestasis, Progressive Familial Intrahepatic, 2 57 72 70
Pfic2 57 12 20 58 72 54
Cholestasis, Progressive Familial Intrahepatic 2 57 73 13 44
Progressive Familial Intrahepatic Cholestasis 2 12 29 6 15
Progressive Familial Intrahepatic Cholestasis Type 2 20 58
Bsep Deficiency 12 58
Cholestasis, Intrahepatic, Familial, Progressive, Type 2 39
Severe Abcb11 Deficiency 20

Characteristics:

Orphanet epidemiological data:

58
progressive familial intrahepatic cholestasis type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
caused by a defect in bile acid transport
genetic heterogeneity, see pfic1


HPO:

31
cholestasis, progressive familial intrahepatic, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset death in childhood


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070222
OMIM® 57 601847
OMIM Phenotypic Series 57 PS211600
MESH via Orphanet 45 C535934
ICD10 via Orphanet 33 K76.8
UMLS via Orphanet 71 C1866138 C3489789
Orphanet 58 ORPHA79304
UMLS 70 C3489789

Summaries for Cholestasis, Progressive Familial Intrahepatic, 2

GARD : 20 Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer ). PFIC2 is caused by change ( mutations ) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.

MalaCards based summary : Cholestasis, Progressive Familial Intrahepatic, 2, also known as pfic2, is related to atp8b1 deficiency and biliary atresia, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include liver and spleen, and related phenotypes are failure to thrive and splenomegaly

Disease Ontology : 12 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31.

OMIM® : 57 Progressive familial intrahepatic cholestasis-2 (PFIC2) is an autosomal recessive disorder characterized by progressive liver disease with impairment of bile flow, but without hepatobiliary structural abnormality. Patients have amorphous or finely filamentous bile and nonspecific giant cell hepatitis on presentation (summary by Strautnieks et al., 1998). For a phenotypic description and a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600). (601847) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Cholestasis, progressive familial intrahepatic, 2: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

Wikipedia : 73 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 2

Diseases in the Familial Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5 Progressive Familial Intrahepatic Cholestasis
Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Progressive Familial Intrahepatic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 atp8b1 deficiency 30.2 NR1H4 ATP8B1 ABCB11
2 biliary atresia 30.1 SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCB4 ABCB11
3 cholelithiasis 29.8 NR1H4 CYP7A1 ABCG5 ABCB4
4 cholestasis, intrahepatic, of pregnancy, 1 29.6 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
5 liver disease 29.5 TJP2 SLC10A1 NR1H4 ATP8B1 ABCC2 ABCB4
6 intrahepatic cholestasis of pregnancy 29.0 SLCO1B3 SLCO1B1 NR1H4 ATP8B1 ABCC3 ABCC2
7 cholestasis, benign recurrent intrahepatic, 2 28.8 TJP2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
8 familial intrahepatic cholestasis 28.7 TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 FABP6
9 cholestasis, progressive familial intrahepatic, 1 28.5 TJP2 SLCO1B3 SLC51B SLC51A SLC10A2 SLC10A1
10 cholestasis 28.1 TJP2 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1
11 bilirubin metabolic disorder 28.0 SLCO1B3 SLCO1B1 SLC51A SLC10A2 SLC10A1 NR1H4
12 cholestasis, benign recurrent intrahepatic, 1 27.6 TJP2 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A2
13 progressive familial intrahepatic cholestasis 27.3 TJP2 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A2
14 cholangitis 10.3 NR1H4 ABCB4 ABCB11
15 autosomal dominant non-syndromic intellectual disability 3 10.3 ABCB4 ABCB11
16 common bile duct disease 10.2 ABCB4 ABCB11
17 bile duct cysts 10.2 ATP8B1 ABCB4 ABCB11
18 chronic cholangitis 10.2 SLC51A ABCB4
19 ataxia and polyneuropathy, adult-onset 10.2
20 autosomal recessive disease 10.2
21 rickets 10.2
22 brucellosis 10.2
23 acute pancreatitis 10.2
24 lipid metabolism disorder 10.2
25 neurofibromatosis 10.2
26 acute liver failure 10.2
27 alagille syndrome 1 10.2 ATP8B1 ABCB4 ABCB11
28 sclerosing cholangitis 10.1 NR1H4 ABCB4 ABCB11
29 functional diarrhea 10.1 SLC10A2 NR1H4 CYP7A1
30 cholestasis, intrahepatic, of pregnancy 3 10.1 ABCB4 ABCB11
31 pericholangitis 10.0 SLC51A SLC10A2 SLC10A1 ABCB4 ABCB11
32 thiopurines, poor metabolism of, 1 10.0 SLCO1B1 ABCC4
33 hypercholesterolemia, familial, 1 9.9 SLC10A2 NR1H4 CYP7A1 ABCG5
34 hyperlipoproteinemia, type iv 9.9 SLC10A2 ABCG5
35 gallbladder disease 9.9 NR1H4 CYP7A1 ABCG5 ABCB4 ABCB11
36 liver cirrhosis 9.9
37 mitochondrial metabolism disease 9.9
38 growth hormone deficiency 9.9
39 sitosterolemia 9.8 CYP7A1 ATP8B1 ABCG5 ABCC2 ABCB4 ABCB11
40 cholestasis, progressive familial intrahepatic, 5 9.8 TJP2 NR1H4 NR0B2 ATP8B1 ABCB4 ABCB11
41 diarrhea 9.8 SLC51B SLC10A2 MYO5B ABCC2
42 hyperbilirubinemia, rotor type 9.7 SLCO1B3 SLCO1B1 ABCC2
43 bile acid synthesis defect, congenital, 2 9.7 SLC51B SLC10A1 NR1H4 NR0B2 CYP7A1 ABCB11
44 hepatocellular adenoma 9.6 SLCO1B3 SLCO1B1 ABCC3
45 cholestasis, progressive familial intrahepatic, 4 9.6 TJP2 NR1H4 MYO5B ATP8B1 ABCC2 ABCB4
46 gilbert syndrome 9.6 SLCO1B3 SLCO1B1 ABCC2
47 crigler-najjar syndrome, type i 9.5 SLCO1B3 SLCO1B1 ABCC3 ABCC2 ABCB11
48 primary biliary cholangitis 9.4 SLCO1B1 SLC51A NR1H4 CYP7A1 ABCC3 ABCC2
49 extrahepatic cholestasis 9.2 SLC51B SLC51A SLC10A1 NR1H4 CYP8B1 CYP7A1
50 dubin-johnson syndrome 9.2 SLCO1B3 SLCO1B1 ATP8B1 ABCC4 ABCC3 ABCC2

Graphical network of the top 20 diseases related to Cholestasis, Progressive Familial Intrahepatic, 2:



Diseases related to Cholestasis, Progressive Familial Intrahepatic, 2

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 2

Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 short stature 31 HP:0004322
5 cirrhosis 31 HP:0001394
6 fat malabsorption 31 HP:0002630
7 pruritus 31 HP:0000989
8 diarrhea 31 HP:0002014
9 conjugated hyperbilirubinemia 31 HP:0002908
10 hepatocellular carcinoma 31 HP:0001402
11 intrahepatic cholestasis 31 HP:0001406
12 elevated alkaline phosphatase 31 HP:0003155
13 intermittent jaundice 31 HP:0001046

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
growth retardation

Abdomen Liver:
hepatomegaly
cirrhosis
jaundice
intrahepatic cholestasis
intracanalicular cholestasis shown on biopsy
more
Skin Nails Hair Skin:
jaundice
pruritus

Laboratory Abnormalities:
conjugated hyperbilirubinemia
increased serum alkaline phosphatase
normal or mildly increased serum gamma-ggt
increased serum bile acids

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Abdomen Gastrointestinal:
diarrhea
malabsorption of fat and fat-soluble vitamins

Neoplasia:
increased risk of hepatocellular carcinoma

Clinical features from OMIM®:

601847 (Updated 05-Apr-2021)

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic, 2:


pruritus; diarrhea; icterus

MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 ABCB11 ABCB4 ABCC2 ABCC4 ABCG5 ATP8B1
2 digestive/alimentary MP:0005381 9.96 ABCB4 ABCC4 ABCG5 CYP7A1 CYP8B1 MYO5B
3 homeostasis/metabolism MP:0005376 9.89 ABCB11 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5
4 liver/biliary system MP:0005370 9.44 ABCB11 ABCB4 ABCC2 ABCC3 ABCG5 ATP8B1

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 2

Search Clinical Trials , NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic, 2

Cochrane evidence based reviews: cholestasis, progressive familial intrahepatic 2

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic, 2

Genetic tests related to Cholestasis, Progressive Familial Intrahepatic, 2:

# Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis 2 29 ABCB11

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 2

MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic, 2:

40
Liver, Spleen

Publications for Cholestasis, Progressive Familial Intrahepatic, 2

Articles related to Cholestasis, Progressive Familial Intrahepatic, 2:

(show top 50) (show all 96)
# Title Authors PMID Year
1
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 54 57 6 61
9806540 1998
2
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. 57 6
16871584 2006
3
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 57 6
10579978 1999
4
Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. 61 6 54
17855769 2007
5
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 6 54 61
16039748 2005
6
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center. 6 61
26678486 2015
7
Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. 6 61
15791618 2005
8
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 61 6
15300568 2004
9
Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. 57 61
9326328 1997
10
Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. 6
25921221 2015
11
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2. 6
25847299 2015
12
Anti-CD20 Monoclonal Antibody Therapy in Functional Bile Salt Export Pump Deficiency After Liver Transplantation. 6
24231640 2015
13
Mutations in TJP2 cause progressive cholestatic liver disease. 6
24614073 2014
14
Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease). 6
20583290 2010
15
Recurrence of bile salt export pump deficiency after liver transplantation. 57
19797282 2009
16
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. 6
19101985 2009
17
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. 6
18395098 2008
18
A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump. 6
14672610 2004
19
Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22. 57
9272158 1997
20
DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients. 54 61
20414253 2010
21
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 61 54
20422495 2010
22
[Genetic cholestasis]. 54 61
19753442 2009
23
Progressive familial intrahepatic cholestasis. 61 54
19133130 2009
24
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. 54 61
18487280 2008
25
4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. 54 61
17538928 2007
26
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. 61 54
17241866 2007
27
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). 61 54
16763017 2006
28
Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. 54 61
16628629 2006
29
Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. 61 54
11172067 2001
30
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies. 61
33466755 2021
31
Letter to the editor - Liver cell models for premature termination codon readthrough analyses. 61
33314224 2020
32
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China. 61
33215027 2020
33
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency. 61
32433800 2020
34
Pharmacological premature termination codon readthrough of ABCB11 in bile salt export pump deficiency: an in vitro study. 61
32702170 2020
35
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression. 61
31335238 2020
36
Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients. 61
32309332 2020
37
Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2. 61
32508937 2020
38
[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis]. 61
31400129 2019
39
Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients. 61
31091858 2019
40
Familial intrahepatic cholestasis: New and wide perspectives. 61
31105019 2019
41
Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma. 61
31083836 2019
42
Systematic review of progressive familial intrahepatic cholestasis. 61
30236549 2019
43
Constitutive Androstane Receptor Differentially Regulates Bile Acid Homeostasis in Mouse Models of Intrahepatic Cholestasis. 61
30620001 2019
44
Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. 61
30416103 2019
45
Long-term follow-up in children with progressive familial intrahepatic cholestasis type 2 after partial external biliary diversion with focus on histopathological features. 61
31556557 2019
46
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. 61
30367658 2018
47
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. 61
30250015 2018
48
Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis. 61
29718219 2018
49
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis. 61
29507376 2018
50
Post-transplant Recurrent Bile Salt Export Pump Disease: A Form of Antibody-mediated Graft Dysfunction and Utilization of C4d. 61
28945205 2017

Variations for Cholestasis, Progressive Familial Intrahepatic, 2

ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:

6 (show top 50) (show all 185)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCB11 NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter) SNV Pathogenic 6589 rs72549401 GRCh37: 2:169826641-169826641
GRCh38: 2:168970131-168970131
2 ABCB11 NM_003742.4(ABCB11):c.908+1del Deletion Pathogenic 6591 rs1553469602 GRCh37: 2:169847310-169847310
GRCh38: 2:168990800-168990800
3 ABCB11 NM_003742.4(ABCB11):c.150+3A>C SNV Pathogenic 6593 rs387906354 GRCh37: 2:169870810-169870810
GRCh38: 2:169014300-169014300
4 ABCB11 NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter) SNV Pathogenic 623288 rs1558898789 GRCh37: 2:169830243-169830243
GRCh38: 2:168973733-168973733
5 ABCB11 NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) Duplication Pathogenic 6592 rs387907317 GRCh37: 2:169780330-169780331
GRCh38: 2:168923820-168923821
6 ABCB11 NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) Duplication Pathogenic 6594 rs752919965 GRCh37: 2:169792766-169792767
GRCh38: 2:168936256-168936257
7 ABCB11 NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) SNV Pathogenic 6596 rs72549397 GRCh37: 2:169788931-169788931
GRCh38: 2:168932421-168932421
8 ABCB11 GRCh37/hg19 2q31.1(chr2:169824976-169830328) copy number loss Pathogenic 625825 GRCh37: 2:169824976-169830328
GRCh38:
9 TJP2 NM_004817.4(TJP2):c.766_769del (p.Ala256fs) Deletion Pathogenic 139627 rs587777518 GRCh37: 9:71836226-71836229
GRCh38: 9:69221310-69221313
10 TJP2 NM_004817.4(TJP2):c.885del (p.Ser296fs) Deletion Pathogenic 139628 rs587777519 GRCh37: 9:71836342-71836342
GRCh38: 9:69221426-69221426
11 TJP2 NM_004817.4(TJP2):c.1361del (p.Ala454fs) Deletion Pathogenic 139629 rs587777520 GRCh37: 9:71842938-71842938
GRCh38: 9:69228022-69228022
12 TJP2 NM_004817.4(TJP2):c.1992-2A>G SNV Pathogenic 139630 rs587777521 GRCh37: 9:71851863-71851863
GRCh38: 9:69236947-69236947
13 TJP2 NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs) Deletion Pathogenic 217498 GRCh37: 9:71869122-71869287
GRCh38: 9:69254206-69254371
14 TJP2 NM_004817.4(TJP2):c.2438dup (p.Asn814fs) Duplication Pathogenic 219196 rs776869985 GRCh37: 9:71854928-71854929
GRCh38: 9:69240012-69240013
15 TJP2 NM_004817.4(TJP2):c.817del (p.Ala273fs) Deletion Pathogenic 219197 rs864321697 GRCh37: 9:71836274-71836274
GRCh38: 9:69221358-69221358
16 TJP2 NM_004817.4(TJP2):c.2668-1G>T SNV Pathogenic 219195 rs864321695 GRCh37: 9:71862927-71862927
GRCh38: 9:69248011-69248011
17 TJP2 NM_004817.4(TJP2):c.1243del (p.Ser415fs) Deletion Pathogenic 374295 rs1057518679 GRCh37: 9:71842710-71842710
GRCh38: 9:69227794-69227794
18 TJP2 NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup Duplication Pathogenic 397506 GRCh37: 9:71833276-71861605
GRCh38: 9:69218360-69246689
19 ABCB11 NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) SNV Pathogenic 417884 rs1060499579 GRCh37: 2:169801435-169801435
GRCh38: 2:168944925-168944925
20 TJP2 NM_004817.4(TJP2):c.811_812CG[1] (p.Ala273fs) Microsatellite Pathogenic 438788 rs1554660803 GRCh37: 9:71836270-71836271
GRCh38: 9:69221354-69221355
21 ABCB11 NM_003742.4(ABCB11):c.2012-8T>G SNV Pathogenic 284637 rs769910565 GRCh37: 2:169825008-169825008
GRCh38: 2:168968498-168968498
22 TJP2 NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter) SNV Pathogenic 694274 rs1182781290 GRCh37: 9:71840267-71840267
GRCh38: 9:69225351-69225351
23 TJP2 NM_004817.4(TJP2):c.1672-1G>A SNV Pathogenic 805837 rs1588127136 GRCh37: 9:71849354-71849354
GRCh38: 9:69234438-69234438
24 TJP2 NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) SNV Pathogenic 805838 rs139314808 GRCh37: 9:71852823-71852823
GRCh38: 9:69237907-69237907
25 TJP2 NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter) SNV Pathogenic 805839 rs749009273 GRCh37: 9:71864318-71864318
GRCh38: 9:69249402-69249402
26 TJP2 NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter) SNV Pathogenic 805840 rs1251192873 GRCh37: 9:71842762-71842762
GRCh38: 9:69227846-69227846
27 TJP2 NM_004817.4(TJP2):c.115-1G>A SNV Pathogenic 805842 rs1588080680 GRCh37: 9:71831254-71831254
GRCh38: 9:69216338-69216338
28 TJP2 NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter) SNV Pathogenic 805843 rs748671901 GRCh37: 9:71852046-71852046
GRCh38: 9:69237130-69237130
29 TJP2 NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter) SNV Pathogenic 805844 rs777460754 GRCh37: 9:71842704-71842704
GRCh38: 9:69227788-69227788
30 TJP2 NM_004817.4(TJP2):c.115-2A>C SNV Pathogenic 805845 rs1588080674 GRCh37: 9:71831253-71831253
GRCh38: 9:69216337-69216337
31 ABCB11 NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) SNV Pathogenic 6590 rs11568372 GRCh37: 2:169847329-169847329
GRCh38: 2:168990819-168990819
32 ABCB11 NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) SNV Pathogenic 288555 rs72549402 GRCh37: 2:169828550-169828550
GRCh38: 2:168972040-168972040
33 ABCB11 NM_003742.4(ABCB11):c.379del (p.Thr127fs) Deletion Pathogenic 594630 rs1558927163 GRCh37: 2:169869792-169869792
GRCh38: 2:169013282-169013282
34 TJP2 NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) SNV Pathogenic 632045 rs928915940 GRCh37: 9:71851057-71851057
GRCh38: 9:69236141-69236141
35 ABCB11 NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) SNV Pathogenic 501603 rs772294884 GRCh37: 2:169801231-169801231
GRCh38: 2:168944721-168944721
36 TJP2 NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) SNV Pathogenic 1030844 GRCh37: 9:71855021-71855021
GRCh38: 9:69240105-69240105
37 ABCB11 NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) SNV Likely pathogenic 288726 rs72549395 GRCh37: 2:169783827-169783827
GRCh38: 2:168927317-168927317
38 TJP2 NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) SNV Likely pathogenic 367235 rs376663560 GRCh37: 9:71867780-71867780
GRCh38: 9:69252864-69252864
39 TJP2 NM_004817.4(TJP2):c.185C>T (p.Thr62Met) SNV Likely pathogenic 165403 rs138241615 GRCh37: 9:71831325-71831325
GRCh38: 9:69216409-69216409
40 TJP2 NM_004817.4(TJP2):c.2180-5T>G SNV Likely pathogenic 805841 rs1588135086 GRCh37: 9:71852789-71852789
GRCh38: 9:69237873-69237873
41 TJP2 NM_004817.4(TJP2):c.1056+2T>C SNV Likely pathogenic 489223 rs1278244243 GRCh37: 9:71840325-71840325
GRCh38: 9:69225409-69225409
42 TJP2 NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) Duplication Likely pathogenic 280808 rs886041948 GRCh37: 9:71836028-71836029
GRCh38: 9:69221112-69221113
43 ABCB11 NM_003742.4(ABCB11):c.936G>T (p.Gln312His) SNV Likely pathogenic 381718 rs770497192 GRCh37: 2:169842767-169842767
GRCh38: 2:168986257-168986257
44 TJP2 NM_004817.4(TJP2):c.239+1G>A SNV Likely pathogenic 973543 GRCh37: 9:71831380-71831380
GRCh38: 9:69216464-69216464
45 TJP2 NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) Deletion Likely pathogenic 973544 GRCh37: 9:71853676-71853676
GRCh38: 9:69238760-69238760
46 ABCB11 NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) SNV Likely pathogenic 595385 rs867525294 GRCh37: 2:169820799-169820799
GRCh38: 2:168964289-168964289
47 TJP2 NM_004817.4(TJP2):c.236T>G (p.Leu79Arg) SNV Likely pathogenic 805835 rs1588081022 GRCh37: 9:71831376-71831376
GRCh38: 9:69216460-69216460
48 TJP2 NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser) SNV Likely pathogenic 805836 rs1588117076 GRCh37: 9:71845051-71845051
GRCh38: 9:69230135-69230135
49 ABCB11 NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) Duplication Likely pathogenic 804388 rs1574462504 GRCh37: 2:169836471-169836472
GRCh38: 2:168979961-168979962
50 ABCB11 NM_003742.4(ABCB11):c.2012-8T>G SNV Likely pathogenic 284637 rs769910565 GRCh37: 2:169825008-169825008
GRCh38: 2:168968498-168968498

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 ABCB11 p.Glu297Gly VAR_010271 rs11568372
2 ABCB11 p.Val284Leu VAR_013332
3 ABCB11 p.Lys461Glu VAR_013334 rs127455890
4 ABCB11 p.Asp482Gly VAR_013335 rs72549402
5 ABCB11 p.Gly982Arg VAR_013336 rs72549399
6 ABCB11 p.Gly1004Asp VAR_013337
7 ABCB11 p.Arg1153Cys VAR_013338 rs72549395
8 ABCB11 p.Arg1268Gln VAR_013339 rs72549394
9 ABCB11 p.Gly238Val VAR_030388 rs72551306
10 ABCB11 p.Cys336Ser VAR_030390 rs72551305
11 ABCB11 p.Tyr472Cys VAR_073968 rs369860506
12 ABCB11 p.Asp1131Val VAR_073971
13 ABCB11 p.Cys129Tyr VAR_083783

Cosmic variations for Cholestasis, Progressive Familial Intrahepatic, 2:

9 (show top 50) (show all 15388)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97724722 ZXDB liver,NS,carcinoma,hepatocellular carcinoma c.1308C>A p.D436E 23:57593356-57593356 12
2 COSM94430614 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 12
3 COSM94436083 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 12
4 COSM94063771 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 12
5 COSM88264637 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 12
6 COSM102741209 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 12
7 COSM131494492 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.1159A>G p.M387V 22:29049340-29049340 12
8 COSM103081572 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 12
9 COSM95977701 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 12
10 COSM102131817 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 12
11 COSM95960776 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 12
12 COSM113317148 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 12
13 COSM99592496 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.829T>A p.F277I 19:36891962-36891962 12
14 COSM128686611 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.1072T>A p.F358I 19:36891962-36891962 12
15 COSM123358576 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.691C>T p.L231= 4:145885684-145885684 12
16 COSM123949383 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581= 4:145885684-145885684 12
17 COSM101741672 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581= 4:145885684-145885684 12
18 COSM86004822 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 12
19 COSM98561269 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
20 COSM142353152 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
21 COSM142221290 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
22 COSM99854658 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.156G>A p.V52= 19:52002156-52002156 12
23 COSM139729931 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
24 COSM141470046 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
25 COSM141819438 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
26 COSM145038099 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
27 COSM91868668 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 12
28 COSM91880764 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.2171-78T>G p.? 19:30534769-30534769 12
29 COSM140721836 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.2998+205G>A p.? 18:25194955-25194955 12
30 COSM131506983 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.3658+205G>A p.? 18:25194955-25194955 12
31 COSM94799980 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.3658+205G>A p.? 18:25194955-25194955 12
32 COSM90582798 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 12
33 COSM87577038 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 12
34 COSM109096265 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.3433G>T p.V1145L 9:106974156-106974156 12
35 COSM104985080 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.298+23785G>T p.? 2:179745718-179745718 12
36 COSM104427909 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.20G>T p.S7I 2:179745718-179745718 12
37 COSM151538615 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.253+23785G>T p.? 2:179745718-179745718 12
38 COSM127708351 ZNF345 liver,NS,carcinoma,hepatocellular carcinoma c.47-856A>T p.? 19:36891962-36891962 12
39 COSM135887725 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1168C>G p.L390V 16:89734008-89734008 12
40 COSM84511025 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1219C>G p.L407V 16:89734008-89734008 12
41 COSM111609487 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1444C>G p.L482V 16:89734008-89734008 12
42 COSM92353291 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 12
43 COSM130415812 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.950C>T p.T317I 12:133010889-133010889 12
44 COSM88697750 ZNF217 liver,NS,carcinoma,hepatocellular carcinoma c.*194A>T p.? 20:53569094-53569094 12
45 COSM95253159 ZNF217 liver,NS,carcinoma,hepatocellular carcinoma c.*194A>T p.? 20:53569094-53569094 12
46 COSM94505616 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 12
47 COSM89943752 ZMYM4 liver,NS,carcinoma,hepatocellular carcinoma c.86-8201G>T p.? 1:35350724-35350724 12
48 COSM101398456 ZIC2 liver,NS,carcinoma,hepatocellular carcinoma c.-18C>T p.? 13:99982047-99982047 12
49 COSM113521587 ZGPAT liver,NS,carcinoma,hepatocellular carcinoma c.*197C>A p.? 20:63736116-63736116 12
50 COSM94679661 ZGPAT liver,NS,carcinoma,hepatocellular carcinoma c.*197C>A p.? 20:63736116-63736116 12

Expression for Cholestasis, Progressive Familial Intrahepatic, 2

Search GEO for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic, 2.

Pathways for Cholestasis, Progressive Familial Intrahepatic, 2

Pathways related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 FABP6
2
Show member pathways
13.28 SLCO1B3 SLCO1B1 MYO5B ATP8B1 ABCG5 ABCC4
3
Show member pathways
12.1 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 FABP6
4
Show member pathways
12 SLCO1B1 ABCC4 ABCC3 ABCC2
5 11.94 ABCC4 ABCC3 ABCC2
6
Show member pathways
11.94 SLCO1B3 SLCO1B1 ABCC4 ABCC3 ABCC2 ABCB11
7
Show member pathways
11.92 SLCO1B1 SLC10A1 ABCC2 ABCB4 ABCB11
8
Show member pathways
11.84 CYP7A1 ABCG5 ABCB11
9
Show member pathways
11.66 ABCC4 ABCC3 ABCC2
10 11.62 FABP6 CYP8B1 CYP7A1
11
Show member pathways
11.55 SLCO1B3 SLCO1B1 ABCC3 ABCC2
12 11.45 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1
13 11.4 NR1H4 CYP8B1 CYP7A1 ABCG5 ABCC3 ABCC2
14 11.2 ABCC4 ABCC3 ABCC2
15 11.14 SLC10A1 NR1H4 NR0B2 CYP8B1 CYP7A1 ABCB4
16
Show member pathways
11.07 SLCO1B3 SLCO1B1 ABCC4 ABCC3 ABCC2
17 11.06 ABCC4 ABCC3 ABCC2
18 11.02 CYP8B1 CYP7A1
19 10.94 ABCC4 ABCC3 ABCC2
20 10.89 SLCO1B1 SLC51B SLC51A SLC10A1 NR1H4 CYP7A1
21 10.83 ABCC4 ABCC3 ABCC2
22 10.58 ABCC3 ABCC2

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 2

Cellular components related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.3 TJP2 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A2
2 plasma membrane GO:0005886 10.25 TJP2 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A2
3 integral component of membrane GO:0016021 10.2 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1
4 integral component of plasma membrane GO:0005887 9.96 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 ATP8B1 ABCG5
5 apical plasma membrane GO:0016324 9.5 SLC10A2 ATP8B1 ABCG5 ABCC4 ABCC2 ABCB4
6 intracellular canaliculus GO:0046691 9.43 ABCC2 ABCB11
7 intercellular canaliculus GO:0046581 9.33 ABCC2 ABCB4 ABCB11
8 basolateral plasma membrane GO:0016323 9.17 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A1 ABCC4

Biological processes related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1
2 lipid transport GO:0006869 9.86 FABP6 ATP8B1 ABCG5 ABCB4
3 response to organic cyclic compound GO:0014070 9.85 SLC10A1 NR0B2 CYP7A1 ABCC4
4 response to ethanol GO:0045471 9.79 SLC10A1 NR0B2 CYP7A1
5 cholesterol homeostasis GO:0042632 9.78 NR1H4 CYP7A1 ABCG5 ABCB11
6 response to nutrient levels GO:0031667 9.77 SLC10A1 CYP8B1 ABCG5
7 bile acid biosynthetic process GO:0006699 9.69 CYP8B1 CYP7A1 ABCB11
8 xenobiotic transport GO:0042908 9.67 ABCC4 ABCC3 ABCB11
9 bile acid metabolic process GO:0008206 9.63 NR1H4 ATP8B1 ABCB11
10 sterol metabolic process GO:0016125 9.62 CYP8B1 CYP7A1
11 phospholipid translocation GO:0045332 9.62 ATP8B1 ABCB4
12 organic anion transport GO:0015711 9.62 SLCO1B3 SLCO1B1 ATP8B1 ABCC2
13 sodium-independent organic anion transport GO:0043252 9.61 SLCO1B3 SLCO1B1
14 leukotriene transport GO:0071716 9.61 ABCC4 ABCC3 ABCC2
15 organic substance transport GO:0071702 9.59 SLC51B SLC51A
16 cellular response to bile acid GO:1903413 9.58 NR1H4 ABCB4
17 regulation of bile acid biosynthetic process GO:0070857 9.58 NR1H4 CYP7A1
18 bile acid secretion GO:0032782 9.58 SLC51B SLC51A ABCB4
19 regulation of bile acid secretion GO:0120188 9.57 SLC10A1 ABCC2
20 drug transmembrane transport GO:0006855 9.56 ATP8B1 ABCC3 ABCC2 ABCB11
21 response to 17alpha-ethynylestradiol GO:1904486 9.54 SLC10A1 ABCC2
22 canalicular bile acid transport GO:0015722 9.54 ABCC3 ABCC2 ABCB11
23 drug export GO:0046618 9.52 ABCC2 ABCB11
24 bile acid signaling pathway GO:0038183 9.5 SLC10A1 NR1H4 CYP8B1 CYP7A1 ABCG5 ABCC4
25 bile acid and bile salt transport GO:0015721 9.44 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1

Molecular functions related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.13 MYO5B ATP8B1 ABCG5 ABCC4 ABCC3 ABCC2
2 ATP binding GO:0005524 10.08 MYO5B ATP8B1 ABCG5 ABCC4 ABCC3 ABCC2
3 ATPase activity GO:0016887 9.8 ABCG5 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
4 transmembrane transporter activity GO:0022857 9.73 SLCO1B3 SLCO1B1 SLC51B SLC51A ABCC3 ABCC2
5 transporter activity GO:0005215 9.63 SLC51B SLC51A ABCB11
6 organic anion transmembrane transporter activity GO:0008514 9.58 SLCO1B3 ABCC3 ABCC2
7 retinoid X receptor binding GO:0046965 9.55 NR1H4 NR0B2
8 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.54 SLCO1B3 SLCO1B1
9 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.54 ABCC3 ABCC2 ABCB11
10 glutathione S-conjugate-exporting ATPase activity GO:0015431 9.51 ABCC4 ABCC3
11 bile acid:sodium symporter activity GO:0008508 9.49 SLC10A2 SLC10A1
12 xenobiotic transmembrane transporter activity GO:0042910 9.46 ABCC4 ABCC3 ABCC2 ABCB4
13 bile acid-exporting ATPase activity GO:0015432 9.43 ABCC3 ABCB11
14 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.43 ABCG5 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
15 bile acid transmembrane transporter activity GO:0015125 9.1 SLCO1B3 SLCO1B1 SLC51B SLC51A SLC10A1 ABCB11

Sources for Cholestasis, Progressive Familial Intrahepatic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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