ORPHA:125
Bloom syndrome
Synonyms: BSyn
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bloom syndrome | BSyn |
| fr | Syndrome de Bloom | = en |
| de | Bloom-Syndrom | BS |
| es | Síndrome de Bloom | = en |
| it | Sindrome di Bloom | = en |
| nl | Syndroom van Bloom | = en |
| pt | Síndrome Bloom | |
| pl | Zespół Blooma | = en |
| cs | Bloomův syndrom | = en |
| uk | Синдром Блума | = en |
| zh | Bloom综合征 | B综合征 |
| tr | Bloom sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210900 | E | validated | |
| ICD-10 | Q82.8 | NTBT | index | validated |
| ICD-11 | 4A01.31 | NTBT | index | validated |
| MONDO | 0008876 | E | validated | |
| MeSH | D001816 | E | validated | |
| UMLS | C0005859 | E | validated | |
| GARD | 915 | E | validated | |
| MedDRA | 10073032 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:169346DNA repair defect other than combined T-cell and B-cell immunodeficiencies
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:183490Genetic photodermatosis
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:79390Rare photodermatosis
rare skin diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:68347Tumor of hematopoietic and lymphoid tissues
rare hematological diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BLM | Disease-causing germline mutation(s) in | Assessed | HGNC:1058 | ENSG00000197299 | 604610 | 15q26.1 | BLM RecQ like helicase | 20301572[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.08 / 100 000 | Specific population | Value and class | Validated | 10464606[PMID]_9758720[PMID]_10464671[PMID] |
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 20301572[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
67 annotations · validated 2020-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002715 | Abnormality of the immune system | |
| HP:0008887 | Adipose tissue loss | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0001510 | Growth delay | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0001518 | Small for gestational age | |
| Frequent (79-30%) | ||
| HP:0031393 | Abnormal proportion of CD8 T cells | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0040195 | Decreased head circumference | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0000855 | Insulin resistance | |
| HP:0000272 | Malar flattening | |
| HP:0003251 | Male infertility | |
| HP:0000347 | Micrognathia | |
| HP:0000275 | Narrow face | |
| HP:0002664 | Neoplasm | |
| HP:0000388 | Otitis media | |
| HP:0004396 | Poor appetite | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0002719 | Recurrent infections | |
| HP:0000278 | Retrognathia | |
| HP:0000988 | Skin rash | |
| Occasional (29-5%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0025615 | Abscess | |
| HP:0006721 | Acute lymphoblastic leukemia | |
| HP:0004808 | Acute myeloid leukemia | |
| HP:0000027 | Azoospermia | |
| HP:0012387 | Bronchitis | |
| HP:0100825 | Cheilitis | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0000819 | Diabetes mellitus | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002665 | Lymphoma | |
| HP:0006758 | Malignant genitourinary tract tumor | |
| HP:0002863 | Myelodysplasia | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0100273 | Neoplasm of the colon | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000798 | Oligozoospermia | |
| HP:0001818 | Paronychia | |
| HP:0002232 | Patchy alopecia | |
| HP:0002090 | Pneumonia | |
| HP:0001029 | Poikiloderma | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0005353 | Recurrent herpes | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0011947 | Respiratory tract infection | |
| HP:0012384 | Rhinitis | |
| HP:0020105 | Severe toxoplasmosis | |
| HP:0032170 | Severe varicella zoster infection | |
| HP:0000653 | Sparse eyelashes | |
| HP:0001009 | Telangiectasia | |
| HP:0000554 | Uveitis | |
| Very rare (<4-1%) | ||
| HP:0100751 | Esophageal neoplasm | |
| HP:0002667 | Nephroblastoma | |
| HP:0002878 | Respiratory failure | |
| HP:0000488 | Retinopathy | |
| HP:0012126 | Stomach cancer | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301572[PMID]_29098565[PMID]_29056561[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/125
- This record as JSON: /data/d/125.json