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Nakajo-Nishimura syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
Incontinentia pigmenti
1 OMIM reference -
1 associated gene
64 signs/symptoms
Nakajo-Nishimura syndrome
Incontinentia pigmenti

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
PSMB8
Incontinentia pigmenti
IKBKG



Nakajo-Nishimura syndrome
Incontinentia pigmenti

Synonym(s):
- Amyotrophy - fat tissue anomaly
- NNS
- Secondary hypertrophic osteoperiostosis with pernio
Synonym(s):
- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D007184
COMMON
SIGNS 		- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Heart / cardiac failure
- Hyperhidrosis / increased sweating
- Intellectual deficit / mental / psychomotor retardation / learning disability

Nakajo-Nishimura syndrome
Incontinentia pigmenti

Very frequent
- Abnormal fat distribution / lipodystrophy
- Arthrogryposis
- Articular / joint pain / arthralgia
- Autosomal recessive inheritance
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- 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
- 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
- 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


Very frequent
- Abnormal fingernails
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / small fingernails / anonychia of hands
- Anodontia / oligodontia / hypodontia
- Hair and scalp anomalies
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Nails anomalies
- Telangiectasiae of the skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Warts / papillomas
- X-linked dominant inheritance

Frequent
- Abnormal gait
- Alopecia
- Anomalies of ear and hearing
- Anomalies of hands
- Anomalies of the ribs
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cleft lip and palate
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Complete claw hand / camptodactyly of all fingers
- Corneal clouding / opacity / vascularisation
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Eosinophils anomalies / hypereosinophilia
- Hyperactivity / attention deficit
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Osteolysis / osteoclasia / bone destruction / erosions
- Scoliosis
- Short stature / dwarfism / nanism
- Strabismus / squint
- Supernumerary nipples / polythelia
- Tooth shape anomaly
- Visual loss / blindness / amblyopia

Occasional
- Abnormal toenails
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Blue sclerae
- Cataract / lens opacification
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Encephalitis
- Hand agenesis / absence
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Motor deficit / trouble
- Pulmonary hypertension
- Retinal detachment
- Retinal vascular anomalies / retinal telangiectasia
- Retinal / chorioretinal dysplasia / dystrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spina bifida occulta
- Syndactyly of fingers / interdigital palm
- Transient cerebral ischemia / stroke
- Umbilical hernia