Hutchinson-gilford progeria syndrome

Preferred Label : Hutchinson-gilford progeria syndrome;

Symbol : HGPS;

CISMeF acronym : HGPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PROGERIA;

Included titles and symbols : Progeria syndrome, childhood-onset;

Description : Hutchinson-Gilford progeria syndrome is a rare disorder characterized by short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early death. Cognitive development is normal. Onset is usually within the first year of life (review by Hennekam, 2006). The designation Hutchinson-Gilford progeria syndrome appears to have been first used by DeBusk (1972). A subset of patients with heterozygous mutations in the LMNA gene and a phenotype similar to HGPS have shown onset of the disorder in late childhood or in the early teenage years, and have longer survival than observed in classic HGPS (Chen et al., 2003; Hegele, 2003). Other disorders with a less severe, but overlapping phenotype include mandibuloacral dysplasia (MADA; 248370), an autosomal disorder caused by homozygous or compound heterozygous mutations in the LMNA gene, dilated cardiomyopathy with hypergonadotropic hypogonadism (212112), caused by heterozygous mutation in the LMNA gene, and Werner syndrome (277700), an autosomal recessive progeroid syndrome caused by homozygous or compound heterozygous mutations in the RECQL2 gene (604611).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0022);

Prefixed ID : #176670;

Details

Origin ID

176670;

UMLS CUI

C0033300;

Automatic exact mappings (from CISMeF team)
- LMNA wt Allele [NCIt concept]
- Other specified endocrine disorders [ICD-10 Sub-category]
- Progeria [ICD-11 More detail]
- ROBO3 wt Allele [NCIt concept]
- genetic disorders [MedlinePlus Topic]
- lamin A/C [ORDO Gene]
- lamin A/C [HGNC gene]
- progeria syndrome, Childhood-Onset [MeSH concept]
- progeria syndrome, Childhood-Onset [MeSH Supplementary Concept]
- roundabout guidance receptor 3 [ORDO Gene]
- roundabout guidance receptor 3 [HGNC gene]
- symbol withdrawn HGPPS [HGNC gene]
- symbol withdrawn PRO1 [HGNC gene]
- zinc metallopeptidase STE24 [ORDO Gene]
- zinc metallopeptidase STE24 [HGNC gene]
Currated CISMeF NLP mapping
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
- Progeria [PASCAL descriptor]
- Progeria [MedDRA Preferred Term]
- Progeria [NCIt concept]
- progeria [Disease (Nov.)]
- progeria [DO Concept]
- progeria [MeSH concept]
- progeria [MeSH Descriptor]
- progeria syndrome [SNOMED Notion]
DO Cross reference
- progeria [DO Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Absence of subcutaneous fat [HPO term]
- Alopecia [HPO term]
- Angina pectoris [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congestive heart failure [HPO term]
- Generalized osteoporosis [HPO term]
- Growth delay [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Myocardial infarction [HPO term]
- Osteolysis [HPO term]
- Precocious atherosclerosis [HPO term]
- Premature coronary artery atherosclerosis [HPO term]
ORDO concept(s)
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
- Progeria [MedDRA Preferred Term]
- Progeria [NCIt concept]
- Progeria [PASCAL descriptor]
- progeria [MeSH Descriptor]
- progeria [MeSH concept]
- progeria [DO Concept]
- progeria [Disease (Nov.)]
- progeria syndrome [SNOMED Notion]

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