Nasu-Hakola disease

Introduction: Nasu-Hakola disease

Description of Nasu-Hakola disease

Nasu-Hakola disease (medical condition): A rare inherited disease characterized by bone cysts and...more »

See also:

Brain -- bone -- fat:
  »Introduction: Brain -- bone -- fat
  »Symptoms of Brain -- bone -- fat

Nasu-Hakola disease: Human TYROBP Gene encodes 113-aa 12-kDa (precursor) disulfide-linked homodimeric Tyr-phosphorylated TYRO Protein Tyrosine Kinase Binding Protein, a type I transmembrane polypeptide containing a cytoplasmic ITAM motif that may act as an activating signal transduction element in bone modeling, brain myelination, and inflammation. TYROBP associates with KIR family membrane glycoproteins without a cytoplasmic ITIM; KIR/TYROBP complexes promote cellular activation. TYROBP interacts with SIRPB1 and may bind TCR zeta chain-associated ZAP-70 kinase and SYK tyrosine kinase. (NCI)
Source: Diseases Database

Nasu-Hakola disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Nasu-Hakola disease:

• Human
• Gene
• Precursor
• Disulfide
• Linked
• Tyr
• Protein
• Tyrosine

Nasu-Hakola disease: Rare Disease

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Nasu-Hakola disease as a "rare disease".

Source - Orphanet

Nasu-Hakola disease as a Disease

Nasu-Hakola disease: Another name for Brain -- bone -- fat (or close medical condition association).
  »Introduction: Brain -- bone -- fat
  »Symptoms of Brain -- bone -- fat

Nasu-Hakola disease: Related Diseases

Nasu-Hakola disease: Nasu-Hakola disease is listed as a type of (or associated with) the following medical conditions in our database:

• Brain conditions
• Nervous system conditions
• Head conditions
• Genetic conditions
• Mental health conditions

Symptoms of Nasu-Hakola disease (Brain -- bone -- fat)

Some of the symptoms of Nasu-Hakola disease incude:

• Wrist pain
• Wrist swelling
• Ankle pain
• Ankle swelling
• Loss of inhibitions

See full list of 28 symptoms of Nasu-Hakola disease (Brain -- bone -- fat)

Terms associated with Nasu-Hakola disease:

Terms Similar to Nasu-Hakola disease:

• Brain-bone-fat disease
• Jarvi-Hakola-Nasu Disease
• PLOSL
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Source: Diseases Database

External links related to: Nasu-Hakola disease

• GeneReviews: PLOSL
• OMIM - POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL

Source: Diseases Database

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

More Medical Dictionary Topics

Opitz G/BBB syndrome, X-linked

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