Entry Search - 174900 175050 600993 601299

Search: '174900 175050 600993 601299 (Search in: MIM number)'

Results: 4 entries.

* 600993. SMAD FAMILY MEMBER 4; SMAD4
Cytogenetic location: 18q21.2, Genomic coordinates (GRCh38): 18:51,030,213-51,085,042
Matching terms: 600993
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
18q21.2	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	AD	3
	Myhre syndrome	139210	AD	3
	Pancreatic cancer, somatic	260350		3
	Polyposis, juvenile intestinal	174900	AD	3

▲ Close

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 ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

▲ Close

ICD+
SNOMEDCT: 1149069001, 699316006, 9273005

▲ Close

# 175050. JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Cytogenetic location: 18q21.2
Matching terms: 175050
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
18q21.2	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	AD	3	SMAD4	600993

▲ Close

Links
Testing GTR EuroGentest Juvenile polyposis syndrome Generalized juvenile polyp… Juvenile polyposis of infa…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Juvenile polyposis syndrome Generalized juvenile polyp… Juvenile polyposis of infa… Gene Reviews Hereditary Hemorrhagic Tel… Juvenile Polyposis Syndrome Genetic Alliance GTR GARD OrphaNet Juvenile polyposis syndrome Generalized juvenile polyp… Juvenile polyposis of infa… POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 1149069001 ORPHA: 2929, 329971, 79076 DO: 0111543

▲ Close

# 174900. JUVENILE POLYPOSIS SYNDROME; JPS
JUVENILE POLYPOSIS OF STOMACH, INCLUDED
Cytogenetic locations: 10q23.2, 18q21.2
Matching terms: 174900
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
10q23.2	Polyposis, juvenile intestinal	174900	AD	3	BMPR1A	601299
18q21.2	Polyposis, juvenile intestinal	174900	AD	3	SMAD4	600993

▲ Close

Links
Testing GTR EuroGentest Juvenile polyposis syndrome Generalized juvenile polyp…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Juvenile polyposis syndrome Generalized juvenile polyp… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet Juvenile polyposis syndrome Generalized juvenile polyp… POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 9273005 ORPHA: 2929, 329971 DO: 0050787

▲ Close

* 601299. BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A
Cytogenetic location: 10q23.2, Genomic coordinates (GRCh38): 10:86,755,763-86,932,844
Matching terms: 601299
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
10q23.2	Polyposis syndrome, hereditary mixed, 2	610069		3
10q23.2	Polyposis, juvenile intestinal	174900	AD	3

▲ Close

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 ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

▲ Close

ICD+
SNOMEDCT: 9273005

▲ Close

Search: 174900 175050 600993 601299 (Search in: MIM number)

Results: 4 entries.

* 600993. SMAD FAMILY MEMBER 4; SMAD4
Cytogenetic location: 18q21.2, Genomic coordinates (GRCh38): 18:51,030,213-51,085,042
Matching terms: 600993

# 175050. JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Cytogenetic location: 18q21.2
Matching terms: 175050

# 174900. JUVENILE POLYPOSIS SYNDROME; JPS
JUVENILE POLYPOSIS OF STOMACH, INCLUDED
Cytogenetic locations: 10q23.2, 18q21.2
Matching terms: 174900

* 601299. BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A
Cytogenetic location: 10q23.2, Genomic coordinates (GRCh38): 10:86,755,763-86,932,844
Matching terms: 601299

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2024 Johns Hopkins University.
Printed: April 18, 2024