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Chilblain lupus
2 OMIM references -
2 associated genes
46 connected diseases
No signs/symptoms info
Disease Type of connection
Aicardi-Goutières syndrome
Cerebroretinal vasculopathy
HERNS syndrome
Hereditary vascular retinopathy
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Hereditary breast and ovarian cancer syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2B
Boomerang dysplasia
Bruck syndrome
Common variable immunodeficiency
Congenital myopathy, Paradas type
Craniolenticulosutural dysplasia
Distal myopathy with anterior tibial onset
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hereditary combined deficiency of vitamin K-dependent clotting factors
Lethal acantholytic epidermolysis bullosa
Miyoshi myopathy
Naxos disease
Pseudohypoaldosteronism type 2E
Spondylocarpotarsal synostosis
Young adult-onset Parkinsonism
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
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Seckel syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Familial prostate cancer
Mantle cell lymphoma
Nijmegen breakage syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
1 MeSH reference: C535924
Gene symbol UniProt reference OMIM reference
SAMHD1 Q9Y3Z3606754
TREX1 Q9NSU2606609
No signs/symptoms info available.