ODCs

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Nakajo-Nishimura syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

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

Nakajo-Nishimura syndrome

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

PSMB8

(UniProt - OMIM)

IKBKG

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PSMB8	(0.63)	IKBKG

Citations in the biomedical literature:

Nakajo-Nishimura syndrome		Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
	Synonym(s): - Amyotrophy - fat tissue anomaly - NNS - Secondary hypertrophic osteoperiostosis with pernio		Synonym(s): - OL-EDA-ID

	Classification (Orphanet): - Rare genetic disease - Rare skin disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare bone disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare skin disease

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: young adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive

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

Nakajo-Nishimura syndrome
	Very frequent - Abnormal fat distribution / lipodystrophy - Arthrogryposis - Articular / joint pain / arthralgia - Autosomal recessive inheritance - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Cutaneous rash - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Face / facial anomalies - Fever / chilling - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperostosis - Lipoatrophy - Restricted joint mobility / joint stiffness / ankylosis - Splenomegaly - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Hypergammaglobulinemia - Hyperhidrosis / increased sweating - Lymphadenopathy / polyadenopathies - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Terminal broadening / clubbing of toes - Thick / dowel fingers Occasional - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiac rhythm disorder / arrhythmia - Cardiomegaly - Heart / cardiac failure - Intellectual deficit / mental / psychomotor retardation / learning disability - Long hand / arachnodactyly - Long / large ear - Long / large / bulbous nose - Macroglossia / tongue protrusion / proeminent / hypertrophic - Microcytic anemia - Pyramidal syndrome - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thick lips
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
(no data available)