Disease #01683 (BLM (Bloom syndrome (BLM)), OMIM:210900)

Official abbreviation BLM
Name Bloom syndrome (BLM)
OMIM ID 210900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 13
Phenotype entries for this disease 12
Associated with 1 gene BLM
Associated tissues -
Disease features growth restriction, microcephaly, malar rash, cancer predisposition, cardiomyopathy, elevated sister chromatid exchanges
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-05-02 19:53:20 +02:00 (CEST)


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00306764 - - - - - Belgium - - - - - BLM - BLM BLM 2 1 Kathleen Claes
00409540 K6733 PubMed: Oishi 2018 - F - Japan - - - - - BLM best corrected visual acuity: 0.4; electroretinogram , rod: severely reduced, cone: severely reduced CYP4V2 CYP4V2 2 1 LOVD
00434047 patient PubMed: Wayhelova 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/ F - Czech Republic - - - - - BLM growth restriction, hypotrophy, facial abnormality - BLM 2 1 Marketa Wayhelova
00449701 Fam1Pat1 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - United States Czech;Ireland - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; recurrent infections (recurrent otitis media and tonsillitis, leading to tonsillectomy); no malar rash; no dilated cardiomyopathy; congenital dislocation hip, gastrostomy; postnatally, weight, height and OFC significantly reduced - TOP3A 1 1 Johan den Dunnen
00449702 Fam2Pat2 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 3 affected, unaffected heterozygous parents F - United Arab Emirates - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; no dilated cardiomyopathy; postnatally, weight, height and OFC significantly reduced - TOP3A 1 3 Johan den Dunnen
00449703 Fam2Pat3 PubMed: Martin 2018, Journal: Martin 2018 sib F - United Arab Emirates - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy; abnormal movements and tics; postnatally, weight, height and OFC significantly reduced - TOP3A 1 1 Johan den Dunnen
00449704 Fam2Pat4 PubMed: Martin 2018, Journal: Martin 2018 sib M - United Arab Emirates - - - - - BLM see paper; ..., deceased, ; prenatal-onset growth restriction; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; severe dilated cardiomyopathy (deceased); postnatally, weight, height and OFC significantly reduced - TOP3A 1 1 Johan den Dunnen
00449705 Fam3Pat5 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Japan - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; dilated cardiomyopathy (after heart transplant); mitochondrial DNA depletion muscle (0.87); hearing loss, combined malonic and methylmalonic aciduria; postnatally, weight, height and OFC significantly reduced - TOP3A 2 1 Johan den Dunnen
00449706 Fam4Pat6 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Syria - - - - - BLM see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay (expressive speech delay); no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; ECG normal; postnatally, weight, height and OFC significantly reduced - TOP3A 1 1 Johan den Dunnen
00449707 Fam5Pat7 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 2 affected, unaffected heterozygous parents F - Spain - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no café-au-lait macules; no developmental delay; no cancer; decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; postnatally, weight, height and OFC significantly reduced - TOP3A 1 2 Johan den Dunnen
00449708 Fam5Pat8 PubMed: Martin 2018, Journal: Martin 2018 sib M - Spain - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy (asymptomatic), mild left-ventricle dilatation; postnatally, weight, height and OFC significantly reduced - TOP3A 1 1 Johan den Dunnen
00449709 Fam6Pat9 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents M - Syria - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; recurrent infections; no malar rash; hypertrophic cardiomyopathy; microcytic anemia (due to beta-thalassemia trait); postnatally, weight, height and OFC significantly reduced - TOP3A 1 1 Johan den Dunnen
00449710 Fam7Pat10 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Saudi Arabia - - - - - BLM see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; recurrent infections (reccurent upper-respiratory-tract infections, oral thrush); no malar rash; no dilated cardiomyopathy; postnatally, weight, height and OFC significantly reduced - TOP3A 1 1 Johan den Dunnen
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