ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
28 signs/symptoms

Combined immunodeficiency due to ZAP70 deficiency

Nasu-Hakola disease

ZAP70	(UniProt - OMIM)		TREM2	(UniProt - OMIM)
			TYROBP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ZAP70	(0.65)	TYROBP

Citations in the biomedical literature:

Combined immunodeficiency due to ZAP70 deficiency		Nasu-Hakola disease
	Synonym(s): - Zeta-associated-protein 70 deficiency		Synonym(s): - NHD - PLO-SL - PLOSL - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536329

Nasu-Hakola disease
	Very frequent - Abnormal fat distribution / lipodystrophy - Articular / joint pain / arthralgia - Autosomal recessive inheritance - Bone cyst - Bone pain - Bone tumefaction / swelling - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Restricted joint mobility / joint stiffness / ankylosis - Troubles of memory / amnesia / hypermnesia Frequent - Chorea / athetosis / choreoathetosis / choreic syndrome - Hypertonia / spasticity / rigidity / stiffness - Intracranial / cerebral calcifications - Movement disorder - Oculomotor apraxia / dyspraxia - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Visual / auditory / tactile agnosia / propopagnosia / simultagnosia Occasional - Acute leukemia - Early death / lethality - Functional anomalies of the digestive system - Hydrocephaly
Combined immunodeficiency due to ZAP70 deficiency
(no data available)