Preferred Name

HUTCHINSON-GILFORD PROGERIA SYNDROME

Synonyms

PROGERIA SYNDROME, CHILDHOOD-ONSET

ID

http://purl.bioontology.org/ontology/OMIM/176670

altLabel

PROGERIA SYNDROME, CHILDHOOD-ONSET

HGPS

PROGERIA

cui

C0033300

C2750285

Gene Locus

1q21.2

Gene Symbol

LMN1

LMNA

FPLD2

CMD1A

EMD2

HGPS

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU009692

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU000051

http://purl.bioontology.org/ontology/OMIM/MTHU008097

http://purl.bioontology.org/ontology/OMIM/MTHU037286

http://purl.bioontology.org/ontology/OMIM/MTHU017756

http://purl.bioontology.org/ontology/OMIM/MTHU002944

http://purl.bioontology.org/ontology/OMIM/MTHU002673

http://purl.bioontology.org/ontology/OMIM/MTHU002029

http://purl.bioontology.org/ontology/OMIM/MTHU061187

http://purl.bioontology.org/ontology/OMIM/MTHU008101

http://purl.bioontology.org/ontology/OMIM/MTHU005511

http://purl.bioontology.org/ontology/OMIM/MTHU003879

http://purl.bioontology.org/ontology/OMIM/MTHU036408

http://purl.bioontology.org/ontology/OMIM/MTHU012863

http://purl.bioontology.org/ontology/OMIM/MTHU003721

http://purl.bioontology.org/ontology/OMIM/MTHU012581

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU072407

http://purl.bioontology.org/ontology/OMIM/MTHU072405

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU072398

http://purl.bioontology.org/ontology/OMIM/MTHU072396

http://purl.bioontology.org/ontology/OMIM/MTHU072394

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU072404

http://purl.bioontology.org/ontology/OMIM/MTHU072402

http://purl.bioontology.org/ontology/OMIM/MTHU072400

http://purl.bioontology.org/ontology/OMIM/MTHU010335

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU017757

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU008781

http://purl.bioontology.org/ontology/OMIM/MTHU005234

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU005671

http://purl.bioontology.org/ontology/OMIM/MTHU002945

http://purl.bioontology.org/ontology/OMIM/MTHU042548

http://purl.bioontology.org/ontology/OMIM/MTHU014332

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU006492

http://purl.bioontology.org/ontology/OMIM/MTHU072150

http://purl.bioontology.org/ontology/OMIM/MTHU072395

http://purl.bioontology.org/ontology/OMIM/MTHU004560

http://purl.bioontology.org/ontology/OMIM/MTHU016089

http://purl.bioontology.org/ontology/OMIM/MTHU002040

http://purl.bioontology.org/ontology/OMIM/MTHU003865

http://purl.bioontology.org/ontology/OMIM/MTHU000661

http://purl.bioontology.org/ontology/OMIM/MTHU003037

http://purl.bioontology.org/ontology/OMIM/MTHU072403

http://purl.bioontology.org/ontology/OMIM/MTHU015740

http://purl.bioontology.org/ontology/OMIM/MTHU072408

http://purl.bioontology.org/ontology/OMIM/MTHU072399

http://purl.bioontology.org/ontology/OMIM/MTHU072406

http://purl.bioontology.org/ontology/OMIM/MTHU009877

http://purl.bioontology.org/ontology/OMIM/MTHU072397

http://purl.bioontology.org/ontology/OMIM/MTHU014866

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU072393

http://purl.bioontology.org/ontology/OMIM/MTHU072401

http://purl.bioontology.org/ontology/OMIM/MTHU036368

http://purl.bioontology.org/ontology/OMIM/MTHU008340

http://purl.bioontology.org/ontology/OMIM/MTHU002570

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

176670

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HUTCHINSON-GILFORD PROGERIA SYNDROME

Scope Statement

Median life expectancy 13 years (in most patients) [MISCELLANEOUS]

Majority of classic cases have a single de novo mutation (GLY608GLY, 150330.0022) [MISCELLANEOUS]

Somatic mosaicism and apparent germline mosaicism have been reported [MISCELLANEOUS]

Some patients have an atypical phenotype with a later age at diagnosis and more protracted disease course [MISCELLANEOUS]

Median age of clinical diagnosis 19 months (in most patients) [MISCELLANEOUS]

Caused by mutation in the lamin A/C gene (LMNA, 150330.0022) [MOLECULAR BASIS]

Paternal age effect [MISCELLANEOUS]

Premature aging [MISCELLANEOUS]

tui

T047

Delete Subject Author Type Created
No notes to display