Cytoscape Web
Click node...


PROTEIN INTERACTIONS: 1
6 associated genes
19 signs/symptoms
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Limited cutaneous systemic sclerosis

BTK CAV1
ELF4 CCR6
CTGF
HLA-DRB1
IRF5
KIAA0319L


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTK
(0.73)
CAV1



Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Limited cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5 KIAA0319L



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Limited cutaneous systemic sclerosis

Synonym(s):
(no synonyms)

Synonym(s):
- Limited cutaneous systemic scleroderma

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune 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 blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

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

Limited cutaneous systemic sclerosis

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


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

(no data available)