Bloom syndrome

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Description from OMIM

Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Short stature skeletal 100 % 15137905 2011-10-19
Immune deficiency lymphatic 100 % 15137905 2011-10-01
Short stature skeletal 100 % 16763388 2011-10-01
Skin pigmentation changes integumentary 100 % 15137905 2011-10-02
Hypogonadism reproductive 100 % 2721026 2011-10-12
Sun sensitivity integumentary 96 % 5770175 2011-10-12
Telangiectasia integumentary 96 % 5770175 2011-10-12
Cafe-au-lait spots integumentary 59 % 5770175 2011-10-13
Cancer lymphatic 42 % 9062585 2011-10-01
Cafe-au-lait spots integumentary 41 % 5770175 2011-10-12
High-pitched voice nervous 26 % 5770175 2011-10-13
Clinodactyly skeletal 23 % 5770175 2015-09-20
Syndactyly skeletal 14 % 5770175 2015-09-20
Diabetes mellitus type 2 endocrine 13 % 9062585 2011-10-01
Diabetes mellitus type 2 endocrine 9 % 16763388 2011-10-01



List of references:


Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
Hideo Kaneko, Naomi Kondo,

Bloom syndrome is a rare autosomal recessive genetic disorder characterized by growth deficiency, unusual facies, sun-sensitive telangiectatic erythema, immunodeficiency and predisposition to cancer. The causative gene for Bloom syndrome is BLM, which encodes the BLM RecQ helicase homolog protein. The first part of this review describes a long-term follow-up study of two Bloom syndrome siblings. Subsequently, the focus is placed on the functional domains of BLM. Laboratory diagnosis of Bloom syndrome by detecting mutations in BLM is laborious and impractical, unless there are common mutations in a population. Immunoblot and immunohistochemical analyses for the detection of the BLM protein using a polyclonal BLM antibody, which are useful approaches for clinical diagnosis of Bloom syndrome, are also described. In addition, a useful adjunct for the diagnosis of Bloom syndrome in terms of the BLM function is investigated, since disease cells must have the defective BLM helicase function. This review also discusses the nuclear localization signal of BLM, the proteins that interact with BLM and tumors originating from Bloom syndrome.

Expert review of molecular diagnostics - May 2004



Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome.
Alejandro Diaz, Maria G Vogiatzi, Maureen M Sanz, James German,

To obtain an understanding of the etiology of proportional dwarfism and endocrinopathies of Bloom's syndrome BS.

Hormone research - 2006



Bloom's syndrome. XIV. The disorder in Japan.
J German, H Takebe,

Fourteen persons have been diagnosed Bloom's syndrome in Japan, with cytological verification in 11. Widely separated birthplaces throughout Honshu, Shikoku, and Kyushu and a parental consanguinity incidence greater than in the general population suggest that the Bloom's syndrome mutation, although very rare, is distributed widely throughout the Japanese population. The locus mutated is the same as in Jews and persons of Western European extraction. The phenotype differs somewhat from most cases recognized elsewhere, in that dolichocephaly is a less constant feature, the facial skin lesion is less prominent, and life-threatening infections are less common. The characteristic predisposition to neoplasia exists, however, as probably does that to diabetes mellitus.

Clinical genetics - Feb 1989



Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.
J German,



American journal of human genetics - Mar 1969



Bloom's syndrome. XX. The first 100 cancers.
J German,

As of 1996 the 100th cancer was diagnosed in Bloom's syndrome. The cancers have been regularly documented since 1960 in a program of surveillance referred to as the Bloom's Syndrome Registry. Tabulated here are their types and ages of onset. The 100 cancers arose in 71 of the 168 registered individuals. Represented in Bloom's syndrome are both the cancers that commonly affect the general population and the rare tumors of early childhood. This body of information has become sufficiently large to be useful to geneticists and physicians in advising affected families concerning cancer risk. Of more general significance, however, the distribution of cancer sites and types sets Bloom's syndrome apart from other cancer-predisposing genetically determined conditions, affirming its experimental value as a model for analyzing the nonenvironmental component in the etiology of the generality of human cancer.

Cancer genetics and cytogenetics - Jan 1997