ORPHA:740
Hutchinson-Gilford progeria syndrome
Synonyms: HGPS · Progeria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hutchinson-Gilford progeria syndrome | HGPS · Progeria |
| fr | Progéria | HGPS · Syndrome de Hutchinson-Gilford |
| de | Hutchinson-Gilford-Syndrom | Progerie |
| es | Síndrome de Hutchinson-Gilford | Progeria |
| it | Sindrome progeroide di Hutchinson-Gilford | Progeria |
| nl | Progeriasyndroom van Hutchinson-Gilford | = en |
| pt | Síndrome de progeria Hutchinson-Gilford | = en |
| pl | Zespół progerii Hutchinsona i Gilforda | Progeria |
| cs | Hutchinsonův-Gilfordův syndrom progerie | HGPS · Progerie · Hutchinson-Gilfordův syndrom progerie |
| uk | Синдром прогерії Хатчинсона-Гілфорда | HGPS · Прогерія |
| zh | Hutchinson-Gilford早老症 | 早老症 |
| tr | Hutchinson-Gilford progeria sendromu | HGPS · Progerya |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176670 | E | validated | |
| ICD-10 | E34.8 | NTBT | inclusion | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0008310 | E | validated | |
| MeSH | D011371 | E | validated | |
| UMLS | C0033300 | E | validated | |
| GARD | 7467 | E | validated | |
| MedDRA | 10036794 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:300766Laminopathy with premature aging
rare genetic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 20301300[PMID] |
| ZMPSTE24 | Disease-causing germline mutation(s) in | Assessed | HGNC:12877 | ENSG00000084073 | 606480 | 1p34.2 | zinc metallopeptidase STE24 | 16671095[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | 0.025 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | <1 / 1 000 000 | 0.005 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
93 annotations · validated 2020-06-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007485 | Absence of subcutaneous fat | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0007394 | Prominent superficial blood vessels | |
| HP:0001544 | Prominent umbilicus | |
| HP:0008647 | Pubertal developmental failure in females | |
| HP:0001525 | Severe failure to thrive | |
| HP:0000233 | Thin vermilion border | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0000436 | Abnormality of the nasal tip | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0007418 | Alopecia totalis | |
| HP:0010296 | Ankyloglossia | |
| HP:0002621 | Atherosclerosis | |
| HP:0002673 | Coxa valga | |
| HP:0005461 | Craniofacial disproportion | |
| HP:0003292 | Decreased serum leptin | |
| HP:0012569 | Delayed menarche | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0002875 | Exertional dyspnea | |
| HP:0000134 | Female hypogonadism | |
| HP:0000218 | High palate | |
| HP:0002827 | Hip dislocation | |
| HP:0000050 | Hypoplastic male external genitalia | |
| HP:0000855 | Insulin resistance | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0025168 | Left ventricular diastolic dysfunction | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0008573 | Low-frequency sensorineural hearing impairment | |
| HP:0000418 | Narrow nasal ridge | |
| HP:0011832 | Narrow nasal tip | |
| HP:0002232 | Patchy alopecia | |
| HP:0004482 | Relative macrocephaly | |
| HP:0000278 | Retrognathia | |
| HP:0000586 | Shallow orbits | |
| HP:0000200 | Short lingual frenulum | |
| HP:0002362 | Shuffling gait | |
| Occasional (29-5%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0002223 | Absent eyebrow | |
| HP:0001659 | Aortic regurgitation | |
| HP:0004380 | Aortic valve calcification | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0010885 | Avascular necrosis | |
| HP:0012474 | Carotid artery occlusion | |
| HP:0000444 | Convex nasal ridge | |
| HP:0007957 | Corneal opacity | |
| HP:0000961 | Cyanosis | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000678 | Dental crowding | |
| HP:0004334 | Dermal atrophy | |
| HP:0010766 | Ectopic calcification | |
| HP:0001757 | High-frequency sensorineural hearing impairment | |
| HP:0030838 | Hip pain | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0000822 | Hypertension | |
| HP:0000668 | Hypodontia | |
| HP:0011079 | Impacted tooth | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001387 | Joint stiffness | |
| HP:0010505 | Limitation of movement at ankles | |
| HP:0008800 | Limited hip movement | |
| HP:0006467 | Limited shoulder movement | |
| HP:0006248 | Limited wrist movement | |
| HP:0011457 | Loss of eyelashes | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001718 | Mitral stenosis | |
| HP:0004382 | Mitral valve calcification | |
| HP:0001658 | Myocardial infarction | |
| HP:0030002 | Nocturnal lagophthalmos | |
| HP:0002758 | Osteoarthritis | |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | |
| HP:0200034 | Papule | |
| HP:0006335 | Persistence of primary teeth | |
| HP:0000905 | Progressive clavicular acroosteolysis | |
| HP:0009904 | Prominent ear helix | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000331 | Short chin | |
| HP:0000894 | Short clavicles | |
| HP:0001297 | Stroke | |
| HP:0002326 | Transient ischemic attack | |
| HP:0002781 | Upper airway obstruction | |
| HP:0001714 | Ventricular hypertrophy | |
| Very rare (<4-1%) | ||
| HP:0001681 | Angina pectoris | |
| HP:0012804 | Corneal ulceration | |
| HP:0025169 | Left ventricular systolic dysfunction | |
| HP:0002092 | Pulmonary arterial hypertension | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301300[PMID]_28660486[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/740
- This record as JSON: /data/d/740.json