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Diffuse cutaneous systemic sclerosis
5 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Bannayan-Riley-Ruvalcaba syndrome
1 OMIM reference -
1 associated gene
55 signs/symptoms
Diffuse cutaneous systemic sclerosis
Bannayan-Riley-Ruvalcaba syndrome

CAV1
(UniProt - OMIM)
 PTEN
(UniProt - OMIM)
CCR6
(UniProt - OMIM)
CTGF
(UniProt - OMIM)
HLA-DRB1
(UniProt - OMIM)
IRF5
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CAV1
(0.78)
PTEN


Citations in the biomedical literature:


Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5
Bannayan-Riley-Ruvalcaba syndrome
PTEN



Diffuse cutaneous systemic sclerosis
Bannayan-Riley-Ruvalcaba syndrome

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
Synonym(s):
- BRRS
- Myhre-Riley-Smith syndrome
- Syndrome de Myhre-Rikey-Smith
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Muscle weakness / flaccidity
- Telangiectasiae of the skin

Diffuse cutaneous systemic sclerosis
Bannayan-Riley-Ruvalcaba syndrome

Very frequent
- 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
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Lung / pulmonary infiltrates
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Radiologic lung abnormalities / changes
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Frequent
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Dyspareunia / coital pain / vaginal dryness
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Mouth dryness / xerostomia
- Multiple caries
- Osteolysis / osteoclasia / bone destruction / erosions
- Tendon rupture / tendinitis / bursitis / tenosynovitis

Occasional
- Acute arterial hypertension / hypertensive crisis
- Heart / cardiac failure
- Intestinal transit disorder
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Periarticular tissue anomaly / extraarticular calcifications
- Pulmonary hypertension
- Renal failure


Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Irregular / in bands / reticular skin hyperpigmentation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Polyposis of the bowel / colon / intestine
- Short stature / dwarfism / nanism
- Visceral angiomatosis (excluding skin)
- Xanthomas / lipomas

Frequent
- Mucosal / cutaneous hemorrhage
- Pectus excavatum
- Scoliosis
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Absent / hypotonic / flaccid abdominal wall muscles
- Angor pectoris / myocardial infarction
- Anteverted nares / nostrils
- Aortic dilatation / dilation
- Broad nose / nasal bridge
- Broad / bifid thumb
- Cafe-au-lait spot
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Cutis marmorata / marbled skin / livedo
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Early death / lethality
- Frontal bossing / prominent forehead
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- High vaulted / narrow palate
- Hypoglycemia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Long philtrum
- Long / large ear
- Lymphedema
- Lymphoma
- Meningioma
- Micrognathia / retrognathia / micrognathism / retrognathism
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myopathy
- Neoplasms / tumors
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tall stature / gigantism / growth acceleration
- Thyroid neoplasm / tumor / carcinoma / cancer
- Thyroiditis
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy