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Bloom syndrome

1 OMIM reference -
1 associated gene
42 connected diseases
40 signs/symptoms

Disease	Type of connection
Hereditary breast and ovarian cancer syndrome
Fanconi anemia
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
B-cell chronic lymphocytic leukemia
Familial pancreatic carcinoma
Hereditary breast cancer
Familial prostate cancer
Familial congenital mirror movements
Adrenocortical carcinoma
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Werner syndrome
Neuroblastoma
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Left ventricular noncompaction
Seckel syndrome
Richieri Costa-Pereira syndrome
X-linked epilepsy - learning disabilities - behavior disorders
Ataxia-telangiectasia-like disorder
Hereditary site-specific ovarian cancer syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Primary peritoneal carcinoma
Cornelia de Lange syndrome

Synonym(s): - BSyn

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): - Congenital malformations, deformations and chromosomal abnormalities -

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 - 1 MeSH reference: D001816

Gene symbol	UniProt reference	OMIM reference
BLM	P54132	604610

Very frequent

- Acute diarrhea
- Anomalies of nose and olfaction
- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal recessive inheritance
- Chromosome breakage
- 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
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Neoplasms / tumors
- Repeat respiratory infections
- Short stature / dwarfism / nanism

Frequent

- Abnormal cry / voice / phonation disorder / nasal speech
- Face / facial anomalies
- Hypoplastic mandibula / partial absence of the mandibula
- Short / small nose
- Skin photosensitivity
- Telangiectasiae of the skin

Occasional

- Acute leukemia
- 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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Lymphoma
- Microcephaly
- Prominent / bat ears
- Sacral sinus / dimple
- Skin tumors / lumps / epidermal cysts
- Sterility / hypofertility
- Syndactyly of fingers / interdigital palm
- Upper limb polydactyly / hexadactyly