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Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Thanatophoric dysplasia type 1

1 OMIM reference -
1 associated gene
42 signs/symptoms

Limited cutaneous systemic sclerosis

Thanatophoric dysplasia type 1

CAV1	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)
CCR6	(UniProt - OMIM)
CTGF	(UniProt - OMIM)
HLA-DRB1	(UniProt - OMIM)
IRF5	(UniProt - OMIM)
KIAA0319L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTGF	(0.14)	FGFR3

Citations in the biomedical literature:

Limited cutaneous systemic sclerosis		Thanatophoric dysplasia type 1
	Synonym(s): - Limited cutaneous systemic scleroderma		Synonym(s): - TD1 - Thanatophoric dwarfism type 1

	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 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: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

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

Limited cutaneous systemic sclerosis		Thanatophoric dysplasia type 1
	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		Very frequent - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Sacroiliac joints anomalies - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism - Small face - Stillbirth / neonatal death - Trident hand / split hand / abnormal median ray Frequent - Dilated cerebral ventricles without hydrocephaly - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Increased nuchal translucency - Kyphosis - Polyhydramnios - Proptosis / exophthalmos - Rippled skin Occasional - Acanthosis nigricans - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Atrial septal defect / interauricular communication - Cloverleaf skull - Hydrocephaly - Patent ductus arteriosus - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus