ORPHA:811
Shwachman-Diamond syndrome
Synonyms: Pancreatic insufficiency and bone marrow dysfunction · SDS · Shwachman syndrome · Shwachman-Bodian-Diamond syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Shwachman-Diamond syndrome | Pancreatic insufficiency and bone marrow dysfunction · SDS · Shwachman syndrome · Shwachman-Bodian-Diamond syndrome |
| fr | Syndrome de Shwachman-Diamond | Insuffisance pancréatique et dysfonctionnement de la moelle osseuse · SDS · SSD · Syndrome de Shwachman · Syndrome de Shwachman-Bodian-Diamond |
| de | Shwachman-Diamond-Syndrom | Pankreasinsuffizienz und Knochenmarkdysfunktion · SDS · Shwachman-Bodian-Diamond-Syndrom · Shwachman-Syndrom |
| es | Síndrome de Shwachman-Diamond | Insuficiencia pancreática y disfunción de la médula ósea · SDS · Síndrome de Shwachman · Síndrome de Shwachman-Bodian-Diamond |
| it | Sindrome di Shwachman-Diamond | Insufficienza del pancreas e disfunzione del midollo osseo · SDS · Sindrome di Shwachman · Sindrome di Shwachman-Bodian-Diamond |
| nl | Syndroom van Shwachman-Diamond | Pancreasinsufficiëntie en beenmergdisfunctie · SDS · Syndroom van Shwachman · Syndroom van Shwachman-Bodian-Diamond |
| pt | Síndrome Shwachman-Diamond | SDS · Síndrome Shwachman |
| pl | Zespół Shwachmana i Diamonda | Niewydolność trzustki i dysfunkcja szpiku kostnego · SDS · Zespół Shwachmana · Zespół Shwachmana, Bodiana i Diamonda |
| cs | Shwachmanův-Diamondův syndrom | SDS · Insuficience pankreatu a dysfunkce kostní dřeně · Shwachmanův syndrom · Shwachmanův-Bodianův-Diamondův syndrom · Shwachman-Diamondův syndrom · Shwachman-Bodian-Diamondův syndrom |
| uk | Синдром Швахмана-Даймонда | Підшлункова недостатність і дисфункція кісткового мозку · SDS · Синдром Швахмана · Синдром Швахмана-Бодіана-Даймонда |
| zh | Shwachman-Diamond综合征 | 胰腺功能不全和骨髓功能障碍 |
| tr | Shwachman-Diamond sendromu | SDS · Shwachman sendromu · Shwachman-Bodian-Diamond sendromu · Pankreas yetmezliği ve kemik iliği disfonksiyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260400 | BTNT | validated | |
| OMIM | 617941 | BTNT | validated | |
| ICD-10 | D61.0 | NTBT | inclusion | validated |
| ICD-11 | 3A70.0 | NTBT | index | validated |
| MONDO | 0009833 | E | validated | |
| MeSH | D000081003 | E | validated | |
| UMLS | C0272170 | E | validated | |
| GARD | 4863 | E | validated | |
| MedDRA | 10067940 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:165661Genetic pancreatic disease
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93430Multiple metaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:101937Rare pancreatic disease
rare gastroenterological diseases - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAJC21 | Disease-causing germline mutation(s) in | Assessed | HGNC:27030 | ENSG00000168724 | 617048 | 5p13.2 | DnaJ heat shock protein family (Hsp40) member C21 | 28062395[PMID] |
| EFL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25789 | ENSG00000140598 | 617538 | 15q25.2 | elongation factor like GTPase 1 | 28331068[PMID] |
| SBDS | Disease-causing germline mutation(s) in | Assessed | HGNC:19440 | ENSG00000126524 | 607444 | 7q11.21 | SBDS ribosome maturation factor | 20301722[PMID] |
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Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.59 / 100 000 | Italy | Value and class | Validated | 22887728[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | United Kingdom | Value and class | Validated | ISBN:407002049[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Puerto rico | Value and class | Validated | 8637967[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | Canada | Value and class | Validated | 11254457[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.28 / 100 000 | Worldwide | Value and class | Validated | 22491737[PMID] |
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
69 annotations · validated 2020-06-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001903 | Anemia | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0002630 | Fat malabsorption | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0410252 | Chronic neutropenia | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0001510 | Growth delay | |
| HP:0410289 | Hypoamylasemia | |
| HP:0040238 | Impaired neutrophil chemotaxis | |
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0012202 | Increased serum bile acid concentration | |
| HP:0004905 | Low levels of vitamin A | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0100513 | Low levels of vitamin E | |
| HP:0011892 | Low levels of vitamin K | |
| HP:0001972 | Macrocytic anemia | |
| HP:0004395 | Malnutrition | |
| HP:0002863 | Myelodysplasia | |
| HP:0001897 | Normocytic anemia | |
| HP:0002594 | Pancreatic hypoplasia | |
| HP:0004322 | Short stature | |
| HP:0002570 | Steatorrhea | |
| HP:0001873 | Thrombocytopenia | |
| HP:0410255 | Transient neutropenia | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001367 | Abnormal joint morphology | |
| HP:0045027 | Abnormality of the thoracic cavity | |
| HP:0004808 | Acute myeloid leukemia | |
| HP:0001915 | Aplastic anemia | |
| HP:0000729 | Autistic behavior | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0000670 | Carious teeth | |
| HP:0000886 | Deformed rib cage | |
| HP:0001249 | Intellectual disability | |
| HP:0001909 | Leukemia | |
| HP:0001882 | Leukopenia | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0003016 | Metaphyseal widening | |
| HP:0000938 | Osteopenia | |
| HP:0001876 | Pancytopenia | |
| HP:0002090 | Pneumonia | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0004429 | Recurrent viral infections | |
| HP:0000736 | Short attention span | |
| HP:0000246 | Sinusitis | |
| HP:0000988 | Skin rash | |
| HP:0002953 | Vertebral compression fracture | |
| Very rare (<4-1%) | ||
| HP:0001167 | Abnormality of finger | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0040075 | Hypopituitarism | |
| HP:0008064 | Ichthyosis | |
| HP:0002721 | Immunodeficiency | |
| HP:0000155 | Oral ulcer | |
| HP:0002754 | Osteomyelitis | |
| HP:0006461 | Proximal femoral epiphysiolysis | |
| HP:0100806 | Sepsis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301722[PMID]_29939643[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/811
- This record as JSON: /data/d/811.json