ZFIN Human Disease: Nasu-Hakola disease

OBO ID: DOID:0090112

Term Name:	Nasu-Hakola disease		Search Ontology:
Synonyms:	NHD PLO-SL PLOSL polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy presenile dementia with bone cysts progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease
Definition:	A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. (3)
References:	GARD:9921 MESH:C536329 OMIM:221770 ORDO:2770 SNOMEDCT_US_2023_03_01:702347001 UMLS_CUI:C1857316
Ontology:	Human Disease ( DOID:0090112 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TYROBP	tyrobp	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	221770

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None