Nestor-Guillermo progeria syndrome
Synonyms: NGPS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nestor-Guillermo progeria syndrome | NGPS |
| fr | Progéria de Nestor-Guillermo | = en |
| de | Nestor-Guillermo-Progeroid-Syndrom | = en |
| es | Síndrome de progeria de Néstor-Guillermo | = en |
| it | Sindrome progeroide di Nestor-Guillermo | = en |
| nl | Progeriasyndroom van Nestor-Guillermo | = en |
| pt | Síndrome progeria de Nestor-Guillermo | = en |
| pl | Zespół progerii Nestora i Guillermo | = en |
| cs | Nestorův-Guillermův progeroidní syndrom | NGPS · Nestor-Guillermův progeroidní syndrom |
| uk | Синдром прогерії Нестора-Гільєрмо | = en |
| zh | Nestor-Guillermo早衰综合征 | = en |
| tr | Nestor-Guillermo progeria sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614008 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | attributed | validated |
| MONDO | 0013523 | E | validated | |
| UMLS | C3151446 | E | validated | |
| GARD | 11008 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:363245Genetic progeroid syndrome
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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BANF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17397 | ENSG00000175334 | 603811 | 11q13.1 | barrier to autointegration nuclear assembly factor 1 | 21549337[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 21932319[PMID]_21549337[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280576
- This record as JSON: /data/d/280576.json