Entry Search - 123700 130160

Search: '123700 130160 (Search in: MIM number)'

Results: 2 entries.

* 130160. ELASTIN; ELN
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,028,173-74,069,907
Matching terms: 130160
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q11.23	Cutis laxa, autosomal dominant	123700	AD	3
7q11.23	Supravalvar aortic stenosis	185500	AD	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 ClinGen Dosage 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	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 268185002 ICD10CM: Q25.3

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# 123700. CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
Cytogenetic location: 7q11.23
Matching terms: 123700
► 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
7q11.23	Cutis laxa, autosomal dominant	123700	AD	3	ELN	130160

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Cutis laxa - PS123700 - 14 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p22.3	Cutis laxa, autosomal recessive, type IIE	AR	3	619451	LTBP1	150390
2p16.1	Cutis laxa, autosomal recessive, type ID	AR	3	620780	EFEMP1	601548
3q13.31	Cutis laxa, autosomal recessive, type IID	AR	3	617403	ATP6V1A	607027
7q11.23	Cutis laxa, autosomal dominant	AD	3	123700	ELN	130160
10q24.1	Cutis laxa, autosomal recessive, type IIIA	AR	3	219150	ALDH18A1	138250
10q24.1	Cutis laxa, autosomal dominant 3	AD	3	616603	ALDH18A1	138250
11q13.1	Cutis laxa, autosomal recessive, type IB	AR	3	614437	EFEMP2	604633
12q24.31	Cutis laxa, autosomal recessive, type IIA	AR	3	219200	ATP6V0A2	611716
14q32.12	?Cutis laxa, autosomal dominant 2	AD	3	614434	FBLN5	604580
14q32.12	Cutis laxa, autosomal recessive, type IA	AR	3	219100	FBLN5	604580
17q25.3	Cutis laxa, autosomal recessive, type IIIB	AR	3	614438	PYCR1	179035
17q25.3	Cutis laxa, autosomal recessive, type IIB	AR	3	612940	PYCR1	179035
19q13.2	Cutis laxa, autosomal recessive, type IC	AR	3	613177	LTBP4	604710
22q11.21	Cutis laxa, autosomal recessive, type IIC	AR	3	617402	ATP6V1E1	108746

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

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ICD+
ORPHA: 90348 DO: 0070130

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Search: 123700 130160 (Search in: MIM number)

Results: 2 entries.

* 130160. ELASTIN; ELN
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,028,173-74,069,907
Matching terms: 130160

# 123700. CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
Cytogenetic location: 7q11.23
Matching terms: 123700

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