Nasu-Hakola disease
ORPHA:2770Malformation syndromeAutosomal recessiveAdolescent, Adult
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TREM2 | triggering receptor expressed on myeloid cells 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605086 |
| TYROBP | transmembrane immune signaling adaptor TYROBP | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604142 |
Фенотипы (HPO)28
Очень частый (80–99%)17
HP:0000708Atypical behavior
HP:0000727Frontal lobe dementia
HP:0000734Disinhibition
HP:0000737Irritability
HP:0000751Personality changes
HP:0001376Limitation of joint mobility
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002354Memory impairment
HP:0002376Developmental regression
HP:0002652Skeletal dysplasia
HP:0002653Bone pain
HP:0002829Arthralgia
HP:0004349Reduced bone mineral density
HP:0005930Abnormality of epiphysis morphology
HP:0009124Abnormal adipose tissue morphology
HP:0012062Bone cyst
Частый (30–79%)8
HP:0000657Oculomotor apraxia
HP:0001250Seizure
HP:0001257Spasticity
HP:0002072Chorea
HP:0002167Abnormality of speech or vocalization
HP:0002514Cerebral calcification
HP:0010524Agnosia
HP:0100022Abnormality of movement
Периодический (5–29%)3
HP:0000238Hydrocephalus
HP:0002488Acute leukemia
HP:0012719Functional abnormality of the gastrointestinal tract
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.15 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)