Spastic paraplegia-neuropathy-poikiloderma syndrome
historical
Synonyms: Antinolo-Nieto-Borrego syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- historical
A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-neuropathy-poikiloderma syndrome | Antinolo-Nieto-Borrego syndrome |
| fr | Syndrome de paraplégie spastique-neuropathie-poïkilodermie | Syndrome d'Antinolo-Nieto-Borrego |
| de | Spastische Paraplegie-Neuropathie-Poikilodermie-Syndrom | Antinolo-Nieto-Borrego-Syndrom |
| es | Síndrome de paraplejía espástica-neuropatía-poiquilodermia | Síndrome de Antinolo-Nieto-Borrego |
| it | Paraplegia spastica - neuropatia - poichilodermia | Sindrome di Antinolo-Nieto-Borrego |
| nl | Spastische paraplegie - neuropathie - poikilodermie-syndroom | Syndroom van Antinolo-Nieto-Borrego |
| pt | Síndrome de paraplegia espástica-neuropatia-poiquilodermia | Síndrome Antinolo-Nieto-Borrego |
| pl | Paraplegia spastyczna - neuropatia - poikiloderma | Zespół Antinolo, Nieto i Borrego |
| cs | Syndrom zahrnující spastickou paraplegii, neuropatii a poikilodermii | Antinoloův-Nietoův-Borregoův syndrom · Antinolo-Nieto-Borregoův syndrom |
| uk | Синдром спастичної параплегії-нейропатії-пойкілодермії | Синдром Антіноло-Ньєто-Боррего |
| zh | 痉挛性截瘫-神经病-皮肤异色病 | Antinolo-Nieto-Borrego综合征 |
| tr | Spastik parapleji-nöropati-poikiloderma sendromu | Antinolo-Nieto-Borrego sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182815 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0008442 | E | validated | |
| MeSH | C536870 | E | validated | |
| UMLS | C4706448 | E | validated | |
| GARD | 4921 | 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 (1):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 1623621[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1623621[PMID] |
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
8 annotations · validated 2018-04-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003400 | Basal lamina 'onion bulb' formation | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0003693 | Distal amyotrophy | |
| HP:0011457 | Loss of eyelashes | |
| HP:0001029 | Poikiloderma | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002064 | Spastic gait | |
Annotation source: 1623621[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2821
- This record as JSON: /data/d/2821.json