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Diffuse cutaneous systemic sclerosis
5 associated genes
224 connected diseases
31 signs/symptoms
Disease Type of connection
Limited cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Berardinelli-Seip congenital lipodystrophy
Bullous pemphigoid
Follicular lymphoma
Limited systemic sclerosis
Narcolepsy without cataplexy
Narcolepsy-cataplexy
Primary biliary cirrhosis
Sarcoidosis
Amyotrophic lateral sclerosis
Noonan syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Giant cell glioblastoma
Gliosarcoma
Idiopathic hypereosinophilic syndrome
Juvenile myelomonocytic leukemia
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Juvenile polyposis of infancy
Precursor B-cell acute lymphoblastic leukemia
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Familial thoracic aortic aneurysm and aortic dissection
Autosomal dominant hypohidrotic ectodermal dysplasia
Generalized juvenile polyposis / juvenile polyposis coli
Precursor T-cell acute lymphoblastic leukemia
Leukoencephalopathy - dystonia - motor neuropathy
Estrogen resistance syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Craniometaphyseal dysplasia
Gastrointestinal stromal tumor
Graham Little-Piccardi-Lassueur syndrome
Hypoplastic left heart syndrome
LEOPARD syndrome
Metachondromatosis
Myeloid neoplasm associated with PDGFRA rearrangement
Oculodentodigital dysplasia
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Syndactyly type 3
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Hypotrichosis-deafness syndrome
KID syndrome
Keratoderma hereditarium mutilans
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Hirschsprung disease
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Waardenburg-Shah syndrome
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Fibronectin glomerulopathy
Hereditary breast and ovarian cancer syndrome
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Autosomal recessive limb-girdle muscular dystrophy type 2P
Congenital stationary night blindness
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Oguchi disease
Synpolydactyly type 2
Autoimmune lymphoproliferative syndrome
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Juvenile rheumatoid factor-negative polyarthritis
Leprechaunism
Oligoarticular juvenile arthritis
Papillary or follicular thyroid carcinoma
Rabson-Mendenhall syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Autosomal dominant popliteal pterygium syndrome
Autosomal recessive primary microcephaly
Oligodontia
Seckel syndrome
Van der Woude syndrome
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Distal 22q11.2 microdeletion syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Herpetic encephalitis
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
22q11.2 deletion syndrome
Action myoclonus - renal failure syndrome
Alobar holoprosencephaly
Common variable immunodeficiency
Distal 17p13.3 microdeletion syndrome
Familial Alzheimer-like prion disease
Familial atrial fibrillation
Fatal familial insomnia
Gaucher disease type 1
Generalized epilepsy - paroxysmal dyskinesia
Gerstmann-Straussler-Scheinker syndrome
Gorlin syndrome
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Huntington disease-like 1
Idiopathic pulmonary arterial hypertension
Inherited Creutzfeldt-Jakob disease
Lobar holoprosencephaly
Megalencephalic leukoencephalopathy with subcortical cysts
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Miller-Dieker syndrome
Monosomy 9q22.3
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Pediatric systemic lupus erythematosus
Pulmonary venoocclusive disease
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Syndromic multisystem autoimmune disease due to Itch deficiency
Unverricht-Lundborg disease
Watson syndrome
Familial capillary hemangioma
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Coppock-like cataract
Lymphangioleiomyomatosis
Nuclear cataract
Posterior polar cataract
Primary CD59 deficiency
Pulverulent cataract
Tuberous sclerosis
Camurati-Engelmann disease
Chronic intestinal pseudoobstruction
Chronic myeloid leukemia
Congenital short bowel syndrome
Congenital valvular dysplasia
Cystic fibrosis
Dyssegmental dysplasia, Silverman-Handmaker type
Ehlers-Danlos syndrome with periventricular heterotopia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial pancreatic carcinoma
Frontometaphyseal dysplasia
Hereditary gingival fibromatosis
Hereditary hemorrhagic telangiectasia
Hyper-IgM syndrome type 3
Myhre syndrome
Nodulosis-arthropathy-osteolysis syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Peters anomaly
Schwartz-Jampel syndrome
Terminal osseous dysplasia - pigmentary defects
Torg-Winchester syndrome
Autosomal dominant nonsyndromic intellectual deficit
Chronic granulomatous disease
Craniopharyngioma
Desmoid tumor
Generalized congenital lipodystrophy with myopathy
Hepatocellular carcinoma, childhood-onset
Intermittent hydrarthrosis
Pilomatrixoma
TRAPS syndrome
WHIM syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Saethre-Chotzen syndrome
Achondroplasia
Antley-Bixler syndrome
Apert syndrome
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon disease
Crouzon syndrome - acanthosis nigricans
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Jackson-Weiss syndrome
Muenke syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
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