Entry Search - 211600 243300 602397

Search: '211600 243300 602397 (Search in: MIM number)'

Results: 3 entries.

* 602397. ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1
Cytogenetic location: 18q21.31, Genomic coordinates (GRCh38): 18:57,646,426-57,803,315
Matching terms: 602397
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
18q21.31	Cholestasis, benign recurrent intrahepatic	243300	AR	3
	Cholestasis, intrahepatic, of pregnancy, 1	147480	AD	3
	Cholestasis, progressive familial intrahepatic 1	211600	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 1155913007

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# 243300. CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
Cytogenetic location: 18q21.31
Matching terms: 243300
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
18q21.31	Cholestasis, benign recurrent intrahepatic	243300	AR	3	ATP8B1	602397

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Cholestasis, benign recurrent intrahepatic - PS243300 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q31.1	Cholestasis, benign recurrent intrahepatic, 2	AR	3	605479	ABCB11	603201
18q21.31	Cholestasis, benign recurrent intrahepatic	AR	3	243300	ATP8B1	602397

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Links
Testing GTR EuroGentest Benign recurrent intrahepa… Benign recurrent intrahepa…	Clinical Resources Clinical Trials EuroGentest Benign recurrent intrahepa… Benign recurrent intrahepa… Gene Reviews ATP8B1 Deficiency Pediatric Genetic Cholesta… Genetic Alliance GTR OrphaNet Benign recurrent intrahepa… Benign recurrent intrahepa…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 65682, 99960 DO: 0070231

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# 211600. CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
Cytogenetic location: 18q21.31
Matching terms: 211600
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
18q21.31	Cholestasis, progressive familial intrahepatic 1	211600	AR	3	ATP8B1	602397

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Cholestasis, progressive familial intrahepatic - PS211600 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q31.1	Cholestasis, progressive familial intrahepatic 2	AR	3	601847	ABCB11	603201
3q29	?Cholestasis, progressive familial intrahepatic, 6	AR	3	619484	SLC51A	612084
4q26	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	AR	3	619658	USP53	617431
7q21.12	Cholestasis, progressive familial intrahepatic 3	AR	3	602347	ABCB4	171060
9q21.11	Cholestasis, progressive familial intrahepatic 4	AR	3	615878	TJP2	607709
9q32	Cholestasis, progressive familial intrahepatic, 8	AR	3	619662	KIF12	611278
12q23.1	Cholestasis, progressive familial intrahepatic, 5	AR	3	617049	NR1H4	603826
15q15.1	Cholestasis, progressive familial intrahepatic, 9	AR	3	619849	ZFYVE19	619635
15q24.1	?Cholestasis, progressive familial intrahepatic, 11	AR	3	619874	SEMA7A	607961
15q26.1	Cholestasis, progressive familial intrahepatic, 12	AR	3	620010	VPS33B	608552
16q22.1	Cholestasis, progressive familial intrahepatic, 13	AR	3	620962	PSKH1	177015
18q21.1	Cholestasis, progressive familial intrahepatic, 10	AR	3	619868	MYO5B	606540
18q21.31	Cholestasis, progressive familial intrahepatic 1	AR	3	211600	ATP8B1	602397

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Links
Testing GTR EuroGentest Progressive familial intra… Progressive familial intra…	Clinical Resources Clinical Trials EuroGentest Progressive familial intra… Progressive familial intra… Gene Reviews ATP8B1 Deficiency Pediatric Genetic Cholesta… Genetic Alliance GTR OrphaNet Progressive familial intra… Progressive familial intra…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 1155913007 ORPHA: 172, 79306 DO: 0070226

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Search: 211600 243300 602397 (Search in: MIM number)

Results: 3 entries.

* 602397. ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1
Cytogenetic location: 18q21.31, Genomic coordinates (GRCh38): 18:57,646,426-57,803,315
Matching terms: 602397

# 243300. CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
Cytogenetic location: 18q21.31
Matching terms: 243300

# 211600. CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
Cytogenetic location: 18q21.31
Matching terms: 211600

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