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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
5 associated genes
31 signs/symptoms
17p13.3 microduplication syndrome
Diffuse cutaneous systemic sclerosis

PAFAH1B1 CAV1
YWHAE CCR6
CTGF
HLA-DRB1
IRF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.63)
HLA-DRB1



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5



17p13.3 microduplication syndrome
Diffuse cutaneous systemic sclerosis

Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
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

17p13.3 microduplication syndrome
Diffuse cutaneous systemic sclerosis

Very frequent
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microstomia / little mouth
- Short / small nose

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Short neck

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration


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
- 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