ODCs

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Alpha-thalassemia - myelodysplastic syndrome

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Bloom syndrome

1 OMIM reference -
1 associated gene
40 signs/symptoms

Alpha-thalassemia - myelodysplastic syndrome

Bloom syndrome

ATRX

(UniProt - OMIM)

BLM

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ATRX	(0.68)	BLM

Citations in the biomedical literature:

Alpha-thalassemia - myelodysplastic syndrome		Bloom syndrome
	Synonym(s): - ATMDS - Acquired HbH disease - Acquired hemoglobin H disease		Synonym(s): - BSyn

	Classification (Orphanet): - Rare genetic disease - Rare hematologic 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): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: sporadic		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D001816


COMMON SIGNS	- Acute leukemia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Neoplasms / tumors

Alpha-thalassemia - myelodysplastic syndrome		Bloom syndrome
	Very frequent - Asthenia / fatigue / weakness - Microcytic anemia - Myelodysplastic syndrome - Polynuclear cells / neutrophils anomalies / neutropenia - Thrombocytopenia / thrombopenia Frequent - Bruisability - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Splenomegaly		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 - Intrauterine growth retardation - Irregular / in bands / reticular skin hyperpigmentation - Narrow face - Nasal congestion / sinusitis / rhinitis / rhinorrhea - 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 - 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