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Nakajo-Nishimura syndrome
1 OMIM reference -
1 associated gene
9 connected diseases
35 signs/symptoms
Disease Type of connection
CANDLE syndrome
JMP syndrome
Immunodeficiency by defective expression of HLA class 1
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Young adult-onset Parkinsonism
Synonym(s):
- Amyotrophy - fat tissue anomaly
- NNS
- Secondary hypertrophic osteoperiostosis with pernio
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: young adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PSMB8 P28062177046
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