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3 associated genes
4 signs/symptoms
COMMON GENES: 1
6 associated genes
19 signs/symptoms
Narcolepsy without cataplexy
Limited cutaneous systemic sclerosis

HCRT CAV1
HLA-DQB1 CCR6
HLA-DRB1 CTGF
HLA-DRB1
IRF5
KIAA0319L


COMMON
GENES
HLA-DRB1



Citations in the biomedical literature:


Narcolepsy without cataplexy
HCRT HLA-DQB1 HLA-DRB1
Limited cutaneous systemic sclerosis
CAV1 CCR6 CTGF IRF5 KIAA0319L



Narcolepsy without cataplexy
Limited cutaneous systemic sclerosis

Synonym(s):
(no synonyms)

Synonym(s):
- Limited cutaneous systemic scleroderma

Classification (Orphanet):
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

Narcolepsy without cataplexy
Limited cutaneous systemic sclerosis

Very frequent
- Delirium / hallucination
- Sleep and vigilance disorders
- Somnolence / hypersomnia / parasomnia

Occasional
- Psychic / behavioural troubles


Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anomalies of skin, subcutaneous tissue and mucosae
- Autoimmunity / autoimmune reaction / autoantibodies
- Dermal / subcutaneous infiltration / induration
- Dry / squaly skin / exfoliation
- Irregular / patchy skin hypopigmentation

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Periarticular tissue anomaly / extraarticular calcifications
- Telangiectasiae of mucosae
- Telangiectasiae of the skin

Occasional
- Claw hand / retracted fingers
- Claw toes / retracted toes
- Lung fibrosis
- Musculo-tendinous retractions
- Pulmonary hypertension