Entry Search - 150330 176670

Search: '150330 176670 (Search in: MIM number)'

Results: 2 entries.

* 150330. LAMIN A/C; LMNA
LAMIN A, INCLUDED
Cytogenetic location: 1q22, Genomic coordinates (GRCh38): 1:156,082,573-156,140,081
Matching terms: 150330
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q22	Cardiomyopathy, dilated, 1A	115200	AD	3
	Charcot-Marie-Tooth disease, type 2B1	605588	AR	3
	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	181350	AD	3
	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	AR	3
	Heart-hand syndrome, Slovenian type	610140	AD	3
	Hutchinson-Gilford progeria	176670	AD	3
	Lipodystrophy, familial partial, type 2	151660	AD	3
	Malouf syndrome	212112	AD	3
	Mandibuloacral dysplasia	248370	AR	3
	Muscular dystrophy, congenital	613205	AD	3
	Restrictive dermopathy 2	619793	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Leiden Muscular Dystrophy … Inherited Peripheral Neuro… The LMNA mutations database NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1003431005, 1010712009, 238870004, 53043001, 715439000, 719451006, 721014007, 725048002, 771272007 ICD10CM: E34.8

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# 176670. HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
Cytogenetic location: 1q22
Matching terms: 176670
► 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
1q22	Hutchinson-Gilford progeria	176670	AD	3	LMNA	150330

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Progeria - PS176670 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q22	Hutchinson-Gilford progeria	AD	3	176670	LMNA	150330
7p15.3	Garg-Mishra progeroid syndrome	AR	3	620601	TOMM7	607980
10q22.3	Wiedemann-Rautenstrauch syndrome	AR	3	264090	POLR3A	614258
11q13.1	Nestor-Guillermo progeria syndrome	AR	3	614008	BANF1	603811

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

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ICD+
SNOMEDCT: 238870004 ICD10CM: E34.8 ORPHA: 740 DO: 3911

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Search: 150330 176670 (Search in: MIM number)

Results: 2 entries.

* 150330. LAMIN A/C; LMNA
LAMIN A, INCLUDED
Cytogenetic location: 1q22, Genomic coordinates (GRCh38): 1:156,082,573-156,140,081
Matching terms: 150330

# 176670. HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
Cytogenetic location: 1q22
Matching terms: 176670

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