PCNA-related progressive neurodegenerative photosensitivity syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis caused by homozygous mutations in the <i>PCNA</i> gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PCNA-related progressive neurodegenerative photosensitivity syndrome | |
| fr | Syndrome neurodégénératif progressif avec photosensibilité associé à PCNA | |
| de | PCNA-assoziiertes progressives neurodegeneratives photosensitives-Syndrom | |
| es | Síndrome de neurodegeneración progresiva con fotosensibilidad asociado a PCNA | |
| it | Sindrome neurodegenerativa progressiva con fotosensibilità correlata a PCNA | |
| nl | PCNA-gerelateerde progressieve neurodegeneratieve fotosensitiviteit-syndroom | |
| pt | Síndrome de fotossenssibilidade neurodegenerativa progressiva PCNA-relacionada | |
| pl | Zespół postępującej neurozwyrodnieniowej wrażliwości na światło zależnej od PCNA | |
| cs | Syndrom PCNA-vázané progresivní neurodegenerativní fotosensitivity | |
| uk | Прогресуючий нейродегенеративний синдром фоточутливості, повязаний з PCNA | |
| zh | PCNA相关性进行性神经退行性光敏综合征 | |
| tr | PCNA-ilişkili ilerleyici nörodejeneratif fotosensitivite sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615919 | E | validated | |
| ICD-10 | G11.3 | NTBT | attributed | validated |
| MONDO | 0014399 | E | validated | |
| UMLS | C4014676 | 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 (9):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin 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 - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCNA | Disease-causing germline mutation(s) in | Assessed | HGNC:8729 | ENSG00000132646 | 176740 | 20p12.3 | proliferating cell nuclear antigen | 24911150[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24911150[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24911150[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
16 annotations · validated 2019-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0002066 | Gait ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002180 | Neurodegeneration | |
| HP:0000613 | Photophobia | |
| HP:0100585 | Telangiectasia of the skin | |
| Frequent (79-30%) | ||
| HP:0031087 | Absent pubertal growth spurt | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007763 | Retinal telangiectasia | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0002664 | Neoplasm | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 24911150[PMID]_26255937[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438134
- This record as JSON: /data/d/438134.json