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Diffuse cutaneous systemic sclerosis
5 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Monosomy 9q22.3
1 associated gene
24 signs/symptoms
Diffuse cutaneous systemic sclerosis
Monosomy 9q22.3

CAV1
(UniProt - OMIM)
 PTCH1
(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
(0.63)
PTCH1


Citations in the biomedical literature:


Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5
Monosomy 9q22.3
PTCH1



Diffuse cutaneous systemic sclerosis
Monosomy 9q22.3

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
Synonym(s):
- Microdeletion 9q22.3
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 genetic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
COMMON
SIGNS 		- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia

Diffuse cutaneous systemic sclerosis
Monosomy 9q22.3

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
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Mouth dryness / xerostomia
- Multiple caries
- Muscle weakness / flaccidity
- Osteolysis / osteoclasia / bone destruction / erosions
- Telangiectasiae of the skin
- 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
- Epicanthic folds
- Hyperactivity / attention deficit
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microstomia / little mouth
- Pectus excavatum
- Short neck
- Strabismus / squint
- Tall stature / gigantism / growth acceleration
- Trigonocephaly
- Umbilical hernia

Frequent
- Advanced bone age
- Bifid / cleft ear lobe / ear lobe pits
- Corpus callosum / septum pellucidum total / partial agenesis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dilated cerebral ventricles without hydrocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hyperextensible joints / articular hyperlaxity
- Kyphosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thick / wide ear lobe