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Nijmegen breakage syndrome
1 OMIM reference -
1 associated gene
44 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12
Bloom syndrome
1 OMIM reference -
1 associated gene
40 signs/symptoms
Nijmegen breakage syndrome
Bloom syndrome

NBN
(UniProt - OMIM)
 BLM
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NBN
(0.55)
BLM


Citations in the biomedical literature:


Nijmegen breakage syndrome
NBN
Bloom syndrome
BLM



Nijmegen breakage syndrome
Bloom 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):
- BSyn
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 hematologic disease
- Rare immune disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
2 MeSH references: D049932 / C531759
External references:
1 OMIM reference -
1 MeSH reference: D001816
COMMON
SIGNS 		- Acute leukemia
- Autosomal recessive inheritance
- Chromosome breakage
- Face / facial anomalies
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphoma
- Microcephaly
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Neoplasms / tumors
- Repeat respiratory infections
- Short stature / dwarfism / nanism
- Skin photosensitivity

Nijmegen breakage syndrome
Bloom syndrome

Very frequent
- Anomalies of ear and hearing
- Anus / rectum anomalies
- Beaked nose
- Depressed nasal bridge
- Hair and scalp anomalies
- Hemolytic anemia
- Hyperactivity / attention deficit
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Long / large / bulbous nose
- Low hair line-front
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micrognathia / retrognathia / micrognathism / retrognathism
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Philtrum deeply grooved
- 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
- 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
- Medulloblastoma
- Muscle anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Very frequent
- Acute diarrhea
- Anomalies of nose and olfaction
- Anomalies of skin, subcutaneous tissue and mucosae
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Flat cheek bones / malar hypoplasia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Irregular / in bands / reticular skin hyperpigmentation
- Narrow face

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Hypoplastic mandibula / partial absence of the mandibula
- Short / small nose
- Telangiectasiae of the skin

Occasional
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anodontia / oligodontia / hypodontia
- Digestive neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperhidrosis / increased sweating
- Ichthyosis / ichthyosiform dermatitis
- Irregular / patchy skin hypopigmentation
- Prominent / bat ears
- Sacral sinus / dimple
- Skin tumors / lumps / epidermal cysts
- Sterility / hypofertility
- Syndactyly of fingers / interdigital palm
- Upper limb polydactyly / hexadactyly