ORPHA:2770
Nasu-Hakola disease
Synonyms: NHD · PLO-SL · PLOSL · Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nasu-Hakola disease | NHD · PLO-SL · PLOSL · Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
| fr | Maladie de Nasu-Hakola | NHD · Ostéodysplasie polykystique lipomembraneuse avec leucoencéphalopathie sclérosante · PLO-SL |
| de | Nasu-Hakola-Krankheit | NHD · Osteodysplasie, lipomembranöse polyzystische - sklerosierende Leukoenzephalopathie · PLO-SL · PLOSL |
| es | Enfermedad de Nasu-Hakola | PLO-SL · PLOSL · NHD · Osteodisplasia poliquística lipomembranosa con leudoencefalopatía esclerosante |
| it | Malattia di Nasu-Hakola | NHD · Osteodisplasia lipomembranosa policistica con leucoencefalopatia sclerosante · PLO-SL · PLOSL |
| nl | Ziekte van Nasu-Hakola | NHD · PLO-SL · PLOSL · Polycystische lipomembraneuze osteodysplasie met scleroserende leuko-encefalopathie |
| pt | Doença de Nasu-Hakola | Osteodisplasia lipomembranosa poliquística com leucoencefalopatia esclerosante · PLO-SL |
| pl | Choroba Nasu i Hakoli | NHD · plOSL · plO-SL · Wielotorbielowata tłuszczowo-błoniasta osteodysplazja ze stwardniajacą leukoencefalopatią |
| cs | Nasuova-Hakolova nemoc | NHD · PLO-SL · PLOSL · Polycystická lipomembranózní osteodysplázie se sklerotizující leukoencefalopatií · Nasu-Hakolova nemoc |
| uk | Хвороба Насу-Хакола | NHD · PLOSL · PLO-SL · Полікістозна ліпомембранна остеодисплазія зі склерозуючою лейкоенцефалопатією |
| zh | Nasu-Hakola病 | 多囊性脂膜样骨发育不良伴硬化性白质脑病 |
| tr | Nasu-Hakola hastalığı | NHD · PLOSL · PLO-SL · Sklerozan lökoensefalopati ile seyreden polikistik lipomembranöz osteodisplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221770 | BTNT | validated | |
| OMIM | 618193 | BTNT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | index | validated |
| MONDO | 0009092 | E | validated | |
| MeSH | C536329 | E | validated | |
| UMLS | C1857316 | E | validated | |
| GARD | 9921 | 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 (4):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TREM2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17761 | ENSG00000095970 | 605086 | 6p21.1 | triggering receptor expressed on myeloid cells 2 | 20301376[PMID] |
| TYROBP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12449 | ENSG00000011600 | 604142 | 19q13.12 | transmembrane immune signaling adaptor TYROBP | 20301376[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Finland | Value and class | Validated | 9463329[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.
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HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009124 | Abnormal adipose tissue morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002829 | Arthralgia | |
| HP:0000708 | Atypical behavior | |
| HP:0012062 | Bone cyst | |
| HP:0002653 | Bone pain | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002376 | Developmental regression | |
| HP:0000734 | Disinhibition | |
| HP:0000727 | Frontal lobe dementia | |
| HP:0000737 | Irritability | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002354 | Memory impairment | |
| HP:0000751 | Personality changes | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0010524 | Agnosia | |
| HP:0002514 | Cerebral calcification | |
| HP:0002072 | Chorea | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002488 | Acute leukemia | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0000238 | Hydrocephalus | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2770
- This record as JSON: /data/d/2770.json