Entry Search - 134797 277600 602091 607511 608328 608990 613195 614819

Search: '134797 277600 602091 607511 608328 608990 613195 614819 (Search in: MIM number)'

Results: 8 entries.

# 277600. WEILL-MARCHESANI SYNDROME 1; WMS1
Cytogenetic location: 19p13.2
Matching terms: 277600
► 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
19p13.2	Weill-Marchesani syndrome 1, recessive	277600	AR	3	ADAMTS10	608990

▲ Close

Weill-Marchesani syndrome - PS277600 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
14q24.3	?Weill-Marchesani syndrome 3, recessive	AR	3	614819	LTBP2	602091
15q21.1	Weill-Marchesani syndrome 2, dominant	AD	3	608328	FBN1	134797
15q26.3	Weill-Marchesani 4 syndrome, recessive	AR	3	613195	ADAMTS17	607511
19p13.2	Weill-Marchesani syndrome 1, recessive	AR	3	277600	ADAMTS10	608990

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 3449 DO: 0050475

▲ Close

# 608328. WEILL-MARCHESANI SYNDROME 2; WMS2
Cytogenetic location: 15q21.1
Matching terms: 608328
► 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
15q21.1	Weill-Marchesani syndrome 2, dominant	608328	AD	3	FBN1	134797

▲ Close

Weill-Marchesani syndrome - PS277600 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
14q24.3	?Weill-Marchesani syndrome 3, recessive	AR	3	614819	LTBP2	602091
15q21.1	Weill-Marchesani syndrome 2, dominant	AD	3	608328	FBN1	134797
15q26.3	Weill-Marchesani 4 syndrome, recessive	AR	3	613195	ADAMTS17	607511
19p13.2	Weill-Marchesani syndrome 1, recessive	AR	3	277600	ADAMTS10	608990

▲ Close

Links
Testing GTR EuroGentest Glaucoma-ectopia lentis-mi… Weill-Marchesani syndrome	Clinical Resources Clinical Trials EuroGentest Glaucoma-ectopia lentis-mi… Weill-Marchesani syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Glaucoma-ectopia lentis-mi… Weill-Marchesani syndrome	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 2084, 3449 DO: 0050475

▲ Close

* 608990. A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10; ADAMTS10
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:8,580,240-8,610,715
Matching terms: 608990
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.2	Weill-Marchesani syndrome 1, recessive	277600	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 MedlinePlus Genetics 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 OMIA OrthoDB ZFin	Cellular Pathways Reactome

▲ Close

# 613195. WEILL-MARCHESANI SYNDROME 4; WMS4
Cytogenetic location: 15q26.3
Matching terms: 613195
► 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
15q26.3	Weill-Marchesani 4 syndrome, recessive	613195	AR	3	ADAMTS17	607511

▲ Close

Weill-Marchesani syndrome - PS277600 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
14q24.3	?Weill-Marchesani syndrome 3, recessive	AR	3	614819	LTBP2	602091
15q21.1	Weill-Marchesani syndrome 2, dominant	AD	3	608328	FBN1	134797
15q26.3	Weill-Marchesani 4 syndrome, recessive	AR	3	613195	ADAMTS17	607511
19p13.2	Weill-Marchesani syndrome 1, recessive	AR	3	277600	ADAMTS10	608990

▲ Close

Links
Testing GTR EuroGentest Weill-Marchesani syndrome Ichthyosis-short stature-b…	Clinical Resources Clinical Trials EuroGentest Weill-Marchesani syndrome Ichthyosis-short stature-b… Gene Reviews Genetic Alliance GTR OrphaNet Weill-Marchesani syndrome Ichthyosis-short stature-b…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 3449, 363992 DO: 0050475

▲ Close

# 614819. WEILL-MARCHESANI SYNDROME 3; WMS3
Cytogenetic location: 14q24.3
Matching terms: 614819
► 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	?Weill-Marchesani syndrome 3, recessive	614819	AR	3	LTBP2	602091

▲ Close

Weill-Marchesani syndrome - PS277600 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
14q24.3	?Weill-Marchesani syndrome 3, recessive	AR	3	614819	LTBP2	602091
15q21.1	Weill-Marchesani syndrome 2, dominant	AD	3	608328	FBN1	134797
15q26.3	Weill-Marchesani 4 syndrome, recessive	AR	3	613195	ADAMTS17	607511
19p13.2	Weill-Marchesani syndrome 1, recessive	AR	3	277600	ADAMTS10	608990

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 3449 DO: 0050475

▲ Close

* 134797. FIBRILLIN 1; FBN1
Cytogenetic location: 15q21.1, Genomic coordinates (GRCh38): 15:48,408,313-48,645,709
Matching terms: 134797
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q21.1	Acromicric dysplasia	102370	AD	3
	Ectopia lentis, familial	129600	AD	3
	Geleophysic dysplasia 2	614185	AD	3
	Marfan lipodystrophy syndrome	616914	AD	3
	Marfan syndrome	154700	AD	3
	MASS syndrome	604308	AD	3
	Stiff skin syndrome	184900	AD	3
	Weill-Marchesani syndrome 2, dominant	608328	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 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 OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

▲ Close

ICD+
SNOMEDCT: 19346006, 254090007, 763839005, 765187004 ICD10CM: Q87.4, Q87.40 ICD9CM: 759.82

▲ Close

* 602091. LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:74,498,183-74,612,237
Matching terms: 602091
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q24.3	?Weill-Marchesani syndrome 3, recessive	614819	AR	3
	Glaucoma 3, primary congenital, D	613086		3
	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	251750	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 ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB	Cellular Pathways Reactome

▲ Close

* 607511. A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 17; ADAMTS17
Cytogenetic location: 15q26.3, Genomic coordinates (GRCh38): 15:99,971,437-100,341,975
Matching terms: 607511
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q26.3	Weill-Marchesani 4 syndrome, recessive	613195	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 ClinGen Dosage 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 OMIA OrthoDB ZFin	Cellular Pathways Reactome

▲ Close

Search: 134797 277600 602091 607511 608328 608990 613195 614819 (Search in: MIM number)

Results: 8 entries.

# 277600. WEILL-MARCHESANI SYNDROME 1; WMS1
Cytogenetic location: 19p13.2
Matching terms: 277600

# 608328. WEILL-MARCHESANI SYNDROME 2; WMS2
Cytogenetic location: 15q21.1
Matching terms: 608328

# 613195. WEILL-MARCHESANI SYNDROME 4; WMS4
Cytogenetic location: 15q26.3
Matching terms: 613195

# 614819. WEILL-MARCHESANI SYNDROME 3; WMS3
Cytogenetic location: 14q24.3
Matching terms: 614819

* 134797. FIBRILLIN 1; FBN1
Cytogenetic location: 15q21.1, Genomic coordinates (GRCh38): 15:48,408,313-48,645,709
Matching terms: 134797

* 602091. LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:74,498,183-74,612,237
Matching terms: 602091

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