ORPHA:280234
Null syndrome
Synonyms: PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Null syndrome | PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome |
| fr | Maladie de Pelizaeus-Merzbacher par mutation non-sens de PLP1 | |
| de | Null-Syndrom | PLP1-Null-Syndrom · Pelizaeus-Merzbacher-Krankheit, null-Form |
| es | Síndrome nulo | Enfermedad de Pelizaeus-Merzbacher, síndrome nulo · Síndrome nulo PLP1 |
| it | Sindrome null | Malattia di Pelizaeus-Merzbacher, sindrome null · Sindrome PLP1-null |
| nl | Nulsyndroom | PLP1-nulsyndroom · Ziekte van Pelizaeus-Merzbacher, nulsyndroom |
| pt | Síndrome 'null' | Doença de Pelizaeus-Merzbacher, síndrome 'null' · Síndrome 'null' PLP1 |
| pl | Zespół Null | Choroba Pelizaeusa i Merzbachera, zespół null · Zespół plP1 null |
| cs | Nulový syndrom | PLP1 nulový syndrom · Pelizaeusova-Merzbacherova nemoc, nulový syndrom · Pelizaeus-Merzbacherova nemoc, nulový syndrom |
| uk | Нуль синдром | Хвороба Пеліцея-Мерцбахера, нульовий синдром · Нульовий синдром PLP1 |
| zh | 无PLP1综合征 | Pelizaeus-Merzbacher病null综合征 |
| tr | Boş sendrom | PLP1 null sendromu · Pelizaeus-Merzbacher hastalığı, null sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312080 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.0 | NTBT | index | validated |
| MONDO | 0017225 | E | validated | |
| UMLS | C5439441 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:702Pelizaeus-Merzbacher disease
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9086 | ENSG00000123560 | 300401 | Xq22.2 | proteolipid protein 1 | 20301361[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
6
HPO phenotypes
15 annotations · validated 2020-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0003429 | CNS hypomyelination | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0011096 | Peripheral demyelination | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0001288 | Gait disturbance | |
| HP:0007020 | Progressive spastic paraplegia | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002540 | Inability to walk | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000648 | Optic atrophy | |
| HP:0002478 | Progressive spastic quadriplegia | |
| Excluded (0%) | ||
| HP:0000639 | Nystagmus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 32809357[PMID]_22343157[PMID]_20301361[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280234
- This record as JSON: /data/d/280234.json