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Nijmegen breakage syndrome
1 OMIM reference -
1 associated gene
44 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Werner syndrome
1 OMIM reference -
1 associated gene
56 signs/symptoms
Nijmegen breakage syndrome
Werner syndrome

NBN
(UniProt - OMIM)
 WRN
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NBN
(0.73)
WRN


Citations in the biomedical literature:


Nijmegen breakage syndrome
NBN
Werner syndrome
WRN



Nijmegen breakage syndrome
Werner syndrome

Synonym(s):
- AT V1
- Ataxia-telangiectasia, variant 1
- Berlin breakage syndrome
- Immunodeficiency - microcephaly - chromosomal instability
- Microcephaly - immunodeficiency - lymphoreticuloma
- NBS
- Seemanova syndrome type 2
Synonym(s):
- Adult progeria
- WS
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
2 MeSH references: D049932 / C531759
External references:
1 OMIM reference -
1 MeSH reference: D014898
COMMON
SIGNS 		- Autosomal recessive inheritance
- Beaked nose
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Neoplasms / tumors
- Short stature / dwarfism / nanism

Nijmegen breakage syndrome
Werner syndrome

Very frequent
- Anomalies of ear and hearing
- Anus / rectum anomalies
- Chromosome breakage
- Depressed nasal bridge
- Face / facial anomalies
- Hair and scalp anomalies
- Hemolytic anemia
- Hyperactivity / attention deficit
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Low hair line-front
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Philtrum deeply grooved
- Repeat respiratory infections
- Short neck
- Sloping forehead
- Thrombocytopenia / thrombopenia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- Thymic aplasia / hypoplasia

Occasional
- Acute leukemia
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Excessive freckling
- Glial tumor / glioblastoma
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Lymphoma
- Medulloblastoma
- Muscle anomalies
- Muscle weakness / flaccidity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skin photosensitivity


Very frequent
- Abnormal fall of hair
- Anomalies of chest / thorax / trunk
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Cataract / lens opacification
- Global upper and lower limbs anomalies
- Lipoatrophy
- Pili torti
- Premature ageing
- White forelock / piebaldism

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal fat distribution / lipodystrophy
- Angor pectoris / myocardial infarction
- Arterial pulse abolition
- Chronic skin infection / ulcerations / ulcers / cancrum
- Diabetes mellitus
- Heart / cardiac failure
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Late puberty / hypogonadism / hypogenitalism
- Narrow face
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Osteosclerosis / osteopetrosis / bone condensation
- Periarticular tissue anomaly / extraarticular calcifications
- Pes talus
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Retinitis pigmentosa / retinal pigmentary changes
- Skin hypoplasia / aplasia / atrophy
- Small hand / acromicria
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Sterility / hypofertility
- Telangiectasiae of the skin
- Testis anomalies
- Tight skin / lack of elasticity

Occasional
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Cerebral vascular anomalies
- Chronic arterial hypertension
- Digestive neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngomalacia
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Meningioma
- Oral cavity / tongue neoplasm / tumor / carcinoma / cancer
- Oropharyngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Precocious menopause / secondary amenorrhea
- Restricted joint mobility / joint stiffness / ankylosis
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Small bowel neoplasm / tumor / carcinoma / cancer
- Thyroid neoplasm / tumor / carcinoma / cancer