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Diffuse cutaneous systemic sclerosis
5 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Schwartz-Jampel syndrome
1 OMIM reference -
1 associated gene
106 signs/symptoms
Diffuse cutaneous systemic sclerosis
Schwartz-Jampel syndrome

CAV1
(UniProt - OMIM)
 HSPG2
(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)
CTGF
(0.52)
HSPG2


Citations in the biomedical literature:


Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5
Schwartz-Jampel syndrome
HSPG2



Diffuse cutaneous systemic sclerosis
Schwartz-Jampel syndrome

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
Synonym(s):
- Aberfeld syndrome
- Burton disease
- Burton skeletal dysplasia
- Burton syndrome
- Catel-Hempel syndrome
- Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
- Myotonic chondrodystrophy
- Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
- Osteochondromuscular dystrophy
- SJS
- SJS1
- Schwartz-Jampel syndrome type 1
- Schwartz-Jampel-Aberfeld syndrome
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the nervous system -
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: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Muscle weakness / flaccidity
- Pulmonary hypertension
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Diffuse cutaneous systemic sclerosis
Schwartz-Jampel 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
- Lung / pulmonary infiltrates
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Radiologic lung abnormalities / changes

Frequent
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dyspareunia / coital pain / vaginal dryness
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Mouth dryness / xerostomia
- Multiple caries
- 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
- Renal failure


Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Abnormal / absent ossification
- Arthrogryposis
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Broad cheeks / cherub-like / cherubin face
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Flat foot
- Genu valgum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Limited opening of the mouth
- Low set ears / posteriorly rotated ears
- Metaphyseal anomaly
- Microstomia / little mouth
- Mild visual loss / impaired visual acuity
- Myotonia
- Protruding lips
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Talipes-valgus

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anomaly of the pharynx / pharyngeal anomaly
- Areflexia / hyporeflexia
- Blepharophimosis / short palpebral fissures
- Cataract / lens opacification
- Expressionless face / amimia
- Eyebrows anomalies
- Flat face
- Folded helix
- High nasal bridge
- High vaulted / narrow palate
- Kyphosis
- Lack / delayed ossification of spine / vertebrae
- Lordosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypertrophy
- Myopathy
- Myopia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Pectus carinatum
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Ptosis
- Rigid spine
- Scoliosis
- Short neck
- Strabismus / squint

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Apnea / sleep apnea
- Cardiac rhythm disorder / arrhythmia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coxa profunda / acetabular protrusion
- Death in infancy
- Delayed bone age
- Dental cysts / tumors
- Distichiasis / double row of lashes
- Dystonia / torticollis / writer's cramp / blepharospasms
- Elbow dislocation
- Elocution disorders / dysarthria / dysphonia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fetal immobility / abnormal fetal movements
- Funicular / testicular torsion / absent gubernaculum testis
- Hirsutism / hypertrichosis / Increased body hair
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Laryngomalacia
- Lens dislocation / luxation / subluxation / ectopia lentis
- Long philtrum
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low hair line-front
- Malignant hyperthermia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Microcornea
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myalgia / muscular pain
- Osteosclerosis / osteopetrosis / bone condensation
- Pectus excavatum
- Polyhydramnios
- Rib structure anomalies
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Straight spine
- Talipes-varus / metatarsal varus
- Umbilical hernia
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wormian bones