Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

HUTCHINSON-GILFORD PROGERIA SYNDROME
Synonyms

PROGERIA SYNDROME, CHILDHOOD-ONSET

HGPS

PROGERIA

ID

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

altLabel

PROGERIA SYNDROME, CHILDHOOD-ONSET

HGPS

PROGERIA

cui

C0033300

C2750285

Gene Locus

1q21.2

Gene Symbol

HGPS

EMD2

LMNA

LMN1

CMD1A

FPLD2

Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

176670

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HUTCHINSON-GILFORD PROGERIA SYNDROME

Scope Statement

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

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

Premature aging [MISCELLANEOUS]

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

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

Paternal age effect [MISCELLANEOUS]

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

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

tui

T047

Delete Subject Author Type Created
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Create mapping

Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D011371 MESH CUI
http://purl.bioontology.org/ontology/MESH/C567661 MESH CUI
http://purl.bioontology.org/ontology/RCD/C1zy1 RCD CUI
http://purl.bioontology.org/ontology/RCD/X50DV RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10036794 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10036794 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-00401 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238870004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/238870004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10036794 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/GROWTH%20ACCELER COSTART CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0033300 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICD10CM/E34.8 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D011371 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/0071-4237 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002495 NDFRT CUI
http://purl.obolibrary.org/obo/MONDO_0008310 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_740 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2670 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008310 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008310 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008310 DOVES LOOM
urn:agi-pathway:uuid-052d9828-a681-4595-938e-7697ae8c4880 BPT LOOM
http://identifiers.org/omim/176670 REXO LOOM
http://identifiers.org/omim/176670 GEXO LOOM
http://identifiers.org/omim/176670 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_176670 CCO LOOM