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Diffuse cutaneous systemic sclerosis
5 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Oculodentodigital dysplasia
2 OMIM references -
1 associated gene
86 signs/symptoms
Diffuse cutaneous systemic sclerosis
Oculodentodigital dysplasia

CAV1
(UniProt - OMIM)
 GJA1
(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
(0.88)
GJA1


Citations in the biomedical literature:


Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5
Oculodentodigital dysplasia
GJA1



Diffuse cutaneous systemic sclerosis
Oculodentodigital dysplasia

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
Synonym(s):
- Meyer-Schwickerath syndrome
- ODDD syndrome
- Oculodentoosseous dysplasia
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 odontologic 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: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references
COMMON
SIGNS 		- Multiple caries
- Muscle weakness / flaccidity

Diffuse cutaneous systemic sclerosis
Oculodentodigital dysplasia

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
- 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
- Anodontia / oligodontia / hypodontia
- Anomalies of nose and olfaction
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Camptodactyly of some fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Enamel anomaly
- Microcornea
- Narrow nasal bridge
- Premature lost of decidious teeth
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thick columella
- Thin / hypoplastic ala nasi

Frequent
- Abnormal fingernails
- Abnormal gait
- Abnormal hair texture / hair dysplasia
- Anomalies of eyes and vision
- Ataxia / incoordination / trouble of the equilibrium
- Bladder and ureter anomalies
- Broad alveolar ridge
- Camptodactyly of fingers
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Conductive deafness / hearing loss
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Elocution disorders / dysarthria / dysphonia
- Enlargment of jaw / large jaw
- External ear anomalies
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- High forehead
- Hypereflexia
- Hypermetropia
- Hyperostosis
- Hypertelorism
- Hypertonia / spasticity / rigidity / stiffness
- Hypotelorism
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Median cleft lip
- Metaphyseal anomaly
- Myopia
- Nails anomalies
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Prognathism / prognathia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- slow growth of the hair
- Small / triangular nares / nostrils
- Visual loss / blindness / amblyopia

Occasional
- Abnormal vertebral size / shape
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Blepharophimosis / short palpebral fissures
- Brittle hair / distrix / trichorrhexis
- Cardiac rhythm disorder / arrhythmia
- Clavicle absent / abnormal
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Diaphyseal anomaly
- Epicanthic folds
- Fine hair
- Hearing loss / hypoacusia / deafness
- Hypoglycemia
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Madelung's deformity
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Palmoplantar hyperkeratosis / keratoderma
- Preaxial polydactyly (hand)
- Short big toe
- Short hand / brachydactyly
- Strabismus / squint
- Taurodontia
- Umbilical hernia
- Upper limb polydactyly / hexadactyly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Ventricular septal defect / interventricular communication