Entry Search - 190181 190182 190220 190230 601366 603109 605600 609192 610168 613795 614816 615582 619472 619656

Search: '190181 190182 190220 190230 601366 603109 605600 609192 610168 613795 614816 615582 619472 619656 (Search in: MIM number)'

Results: 14 entries.

Show 100 |

| « First | ‹ Previous | Next › | Last »

* 605600. IMPORTIN 8; IPO8
Cytogenetic location: 12p11.21, Genomic coordinates (GRCh38): 12:30,628,988-30,695,869
Matching terms: 605600
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p11.21	VISS syndrome	619472	AR	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

▲ Close

# 609192. LOEYS-DIETZ SYNDROME 1; LDS1
Cytogenetic location: 9q22.33
Matching terms: 609192
► 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
9q22.33	Loeys-Dietz syndrome 1	609192	AD	3	TGFBR1	190181

▲ Close

Aortic aneurysm, familial thoracic - PS607086 - 12 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p33	{Aortic aneurysm, familial thoracic 11, susceptibility to}	AD	3	617349	FOXE3	601094
3p24.1	Loeys-Dietz syndrome 2	AD	3	610168	TGFBR2	190182
3q21.1	Aortic aneurysm, familial thoracic 7	AD	3	613780	MYLK	600922
5q13-q14	Aortic aneurysm, familial thoracic 2		2	607087	AAT2	607087
5q23.1	Aortic aneurysm, familial thoracic 10	AD	3	617168	LOX	153455
9q22.33	Loeys-Dietz syndrome 1	AD	3	609192	TGFBR1	190181
10q11.23-q21.1	Aortic aneurysm, familial thoracic 8	AD	3	615436	PRKG1	176894
10q23.31	Aortic aneurysm, familial thoracic 6	AD	3	611788	ACTA2	102620
11q23.3-q24	Aortic aneurysm, familial thoracic 1		2	607086	AAT1	607086
12p13.31	Aortic aneurysm, familial thoracic 9	AD	3	616166	MFAP5	601103
15q23	Aortic aneurysm, familial thoracic 12	AD	3	619825	THSD4	614476
16p13.11	Aortic aneurysm, familial thoracic 4	AD	3	132900	MYH11	160745

Loeys-Dietz syndrome - PS609192 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Loeys-Dietz syndrome 4	AD	3	614816	TGFB2	190220
3p24.1	Loeys-Dietz syndrome 2	AD	3	610168	TGFBR2	190182
9q22.33	Loeys-Dietz syndrome 1	AD	3	609192	TGFBR1	190181
14q24.3	Loeys-Dietz syndrome 5	AD	3	615582	TGFB3	190230
15q22.33	Loeys-Dietz syndrome 3	AD	3	613795	SMAD3	603109
18q21.1	Loeys-Dietz syndrome 6	AD	3	619656	SMAD2	601366

▲ Close

Links
Testing GTR EuroGentest Loeys-Dietz syndrome Familial thoracic aortic a…	Clinical Resources Clinical Trials EuroGentest Loeys-Dietz syndrome Familial thoracic aortic a… Gene Reviews Genetic Alliance GTR OrphaNet Loeys-Dietz syndrome Familial thoracic aortic a… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 60030, 91387 DO: 0070235

▲ Close

# 610168. LOEYS-DIETZ SYNDROME 2; LDS2
Cytogenetic location: 3p24.1
Matching terms: 610168
► 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
3p24.1	Loeys-Dietz syndrome 2	610168	AD	3	TGFBR2	190182

▲ Close

Aortic aneurysm, familial thoracic - PS607086 - 12 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p33	{Aortic aneurysm, familial thoracic 11, susceptibility to}	AD	3	617349	FOXE3	601094
3p24.1	Loeys-Dietz syndrome 2	AD	3	610168	TGFBR2	190182
3q21.1	Aortic aneurysm, familial thoracic 7	AD	3	613780	MYLK	600922
5q13-q14	Aortic aneurysm, familial thoracic 2		2	607087	AAT2	607087
5q23.1	Aortic aneurysm, familial thoracic 10	AD	3	617168	LOX	153455
9q22.33	Loeys-Dietz syndrome 1	AD	3	609192	TGFBR1	190181
10q11.23-q21.1	Aortic aneurysm, familial thoracic 8	AD	3	615436	PRKG1	176894
10q23.31	Aortic aneurysm, familial thoracic 6	AD	3	611788	ACTA2	102620
11q23.3-q24	Aortic aneurysm, familial thoracic 1		2	607086	AAT1	607086
12p13.31	Aortic aneurysm, familial thoracic 9	AD	3	616166	MFAP5	601103
15q23	Aortic aneurysm, familial thoracic 12	AD	3	619825	THSD4	614476
16p13.11	Aortic aneurysm, familial thoracic 4	AD	3	132900	MYH11	160745

Loeys-Dietz syndrome - PS609192 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Loeys-Dietz syndrome 4	AD	3	614816	TGFB2	190220
3p24.1	Loeys-Dietz syndrome 2	AD	3	610168	TGFBR2	190182
9q22.33	Loeys-Dietz syndrome 1	AD	3	609192	TGFBR1	190181
14q24.3	Loeys-Dietz syndrome 5	AD	3	615582	TGFB3	190230
15q22.33	Loeys-Dietz syndrome 3	AD	3	613795	SMAD3	603109
18q21.1	Loeys-Dietz syndrome 6	AD	3	619656	SMAD2	601366

▲ Close

Links
Testing GTR EuroGentest Marfan syndrome type 2 Marfan syndrome Loeys-Dietz syndrome Familial thoracic aortic a…	Clinical Resources Clinical Trials EuroGentest Marfan syndrome type 2 Marfan syndrome Loeys-Dietz syndrome Familial thoracic aortic a… Gene Reviews Genetic Alliance GTR OrphaNet Marfan syndrome type 2 Marfan syndrome Loeys-Dietz syndrome Familial thoracic aortic a…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 284973, 558, 60030, 91387 DO: 0070234

▲ Close

# 613795. LOEYS-DIETZ SYNDROME 3; LDS3
Cytogenetic location: 15q22.33
Matching terms: 613795
► 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
15q22.33	Loeys-Dietz syndrome 3	613795	AD	3	SMAD3	603109

▲ Close

Loeys-Dietz syndrome - PS609192 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Loeys-Dietz syndrome 4	AD	3	614816	TGFB2	190220
3p24.1	Loeys-Dietz syndrome 2	AD	3	610168	TGFBR2	190182
9q22.33	Loeys-Dietz syndrome 1	AD	3	609192	TGFBR1	190181
14q24.3	Loeys-Dietz syndrome 5	AD	3	615582	TGFB3	190230
15q22.33	Loeys-Dietz syndrome 3	AD	3	613795	SMAD3	603109
18q21.1	Loeys-Dietz syndrome 6	AD	3	619656	SMAD2	601366

▲ Close

Links
Testing GTR EuroGentest Aneurysm-osteoarthritis sy… Loeys-Dietz syndrome	Clinical Resources Clinical Trials EuroGentest Aneurysm-osteoarthritis sy… Loeys-Dietz syndrome Gene Reviews Genetic Alliance GTR OrphaNet Aneurysm-osteoarthritis sy… Loeys-Dietz syndrome POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 785808002 ORPHA: 284984, 60030 DO: 0070237

▲ Close

# 614816. LOEYS-DIETZ SYNDROME 4; LDS4
Cytogenetic location: 1q41
Matching terms: 614816
► 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
1q41	Loeys-Dietz syndrome 4	614816	AD	3	TGFB2	190220

▲ Close

Loeys-Dietz syndrome - PS609192 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Loeys-Dietz syndrome 4	AD	3	614816	TGFB2	190220
3p24.1	Loeys-Dietz syndrome 2	AD	3	610168	TGFBR2	190182
9q22.33	Loeys-Dietz syndrome 1	AD	3	609192	TGFBR1	190181
14q24.3	Loeys-Dietz syndrome 5	AD	3	615582	TGFB3	190230
15q22.33	Loeys-Dietz syndrome 3	AD	3	613795	SMAD3	603109
18q21.1	Loeys-Dietz syndrome 6	AD	3	619656	SMAD2	601366

▲ Close

Links
Testing GTR EuroGentest Loeys-Dietz syndrome Familial thoracic aortic a…	Clinical Resources Clinical Trials EuroGentest Loeys-Dietz syndrome Familial thoracic aortic a… Gene Reviews GTR OrphaNet Loeys-Dietz syndrome Familial thoracic aortic a…	Animal Models Alliance Genome MGI Mouse Phenotype

▲ Close

ICD+
ORPHA: 60030, 91387 DO: 0070233

▲ Close

# 615582. LOEYS-DIETZ SYNDROME 5; LDS5
Cytogenetic location: 14q24.3
Matching terms: 615582
► 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
14q24.3	Loeys-Dietz syndrome 5	615582	AD	3	TGFB3	190230

▲ Close

Loeys-Dietz syndrome - PS609192 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Loeys-Dietz syndrome 4	AD	3	614816	TGFB2	190220
3p24.1	Loeys-Dietz syndrome 2	AD	3	610168	TGFBR2	190182
9q22.33	Loeys-Dietz syndrome 1	AD	3	609192	TGFBR1	190181
14q24.3	Loeys-Dietz syndrome 5	AD	3	615582	TGFB3	190230
15q22.33	Loeys-Dietz syndrome 3	AD	3	613795	SMAD3	603109
18q21.1	Loeys-Dietz syndrome 6	AD	3	619656	SMAD2	601366

▲ Close

Links
Testing GTR EuroGentest Loeys-Dietz syndrome Familial thoracic aortic a…	Clinical Resources Clinical Trials EuroGentest Loeys-Dietz syndrome Familial thoracic aortic a… Gene Reviews MedlinePlus Genetics GTR OrphaNet Loeys-Dietz syndrome Familial thoracic aortic a… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype

▲ Close

ICD+
ORPHA: 60030, 91387 DO: 0070236

▲ Close

* 601366. SMAD FAMILY MEMBER 2; SMAD2
Cytogenetic location: 18q21.1, Genomic coordinates (GRCh38): 18:47,808,957-47,930,872
Matching terms: 601366
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
18q21.1	Congenital heart defects, multiple types, 8, with or without heterotaxy	619657	AD	3
18q21.1	Loeys-Dietz syndrome 6	619656	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

▲ Close

* 190181. TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1
Cytogenetic location: 9q22.33, Genomic coordinates (GRCh38): 9:99,103,647-99,154,192
Matching terms: 190181
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9q22.33	{Multiple self-healing squamous epithelioma, susceptibility to}	132800	AD	3
9q22.33	Loeys-Dietz syndrome 1	609192	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00000897 WBGene00004860 ZFin	Cellular Pathways KEGG Reactome

▲ Close

* 190182. TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2
Cytogenetic location: 3p24.1, Genomic coordinates (GRCh38): 3:30,606,356-30,694,142
Matching terms: 190182
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3p24.1	Colorectal cancer, hereditary nonpolyposis, type 6	614331		3
	Esophageal cancer, somatic	133239		3
	Loeys-Dietz syndrome 2	610168	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 Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

▲ Close

10:

* 190220. TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2
Cytogenetic location: 1q41, Genomic coordinates (GRCh38): 1:218,345,336-218,444,619
Matching terms: 190220
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q41	Loeys-Dietz syndrome 4	614816	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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

▲ Close

« First | ‹ Previous | Next › | Last »

Search: 190181 190182 190220 190230 601366 603109 605600 609192 610168 613795 614816 615582 619472 619656 (Search in: MIM number)

Results: 14 entries.

* 605600. IMPORTIN 8; IPO8
Cytogenetic location: 12p11.21, Genomic coordinates (GRCh38): 12:30,628,988-30,695,869
Matching terms: 605600

# 609192. LOEYS-DIETZ SYNDROME 1; LDS1
Cytogenetic location: 9q22.33
Matching terms: 609192

# 610168. LOEYS-DIETZ SYNDROME 2; LDS2
Cytogenetic location: 3p24.1
Matching terms: 610168

# 613795. LOEYS-DIETZ SYNDROME 3; LDS3
Cytogenetic location: 15q22.33
Matching terms: 613795

# 614816. LOEYS-DIETZ SYNDROME 4; LDS4
Cytogenetic location: 1q41
Matching terms: 614816

# 615582. LOEYS-DIETZ SYNDROME 5; LDS5
Cytogenetic location: 14q24.3
Matching terms: 615582

* 601366. SMAD FAMILY MEMBER 2; SMAD2
Cytogenetic location: 18q21.1, Genomic coordinates (GRCh38): 18:47,808,957-47,930,872
Matching terms: 601366

* 190181. TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1
Cytogenetic location: 9q22.33, Genomic coordinates (GRCh38): 9:99,103,647-99,154,192
Matching terms: 190181

* 190182. TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2
Cytogenetic location: 3p24.1, Genomic coordinates (GRCh38): 3:30,606,356-30,694,142
Matching terms: 190182

10:

* 190220. TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2
Cytogenetic location: 1q41, Genomic coordinates (GRCh38): 1:218,345,336-218,444,619
Matching terms: 190220

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^® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025