ORPHA:1830
Schimke immuno-osseous dysplasia
Synonyms: Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schimke immuno-osseous dysplasia | Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome |
| fr | Dysplasie immuno-osseuse de Schimke | Syndrome de Schimke · Syndrome de dysplasie spondylo-épiphysaire-syndrome néphrotique |
| de | Knochendysplasie, immuno-ossäre, Typ Schimke | Schimke-Syndrom · Spondyloepiphysäre Dysplasie - nephrotisches Syndrom |
| es | Displasia inmuno-ósea de Schimke | Displasia espondiloepifisaria-síndrome nefrótico · Síndrome de Schimke |
| it | Displasia immuno-ossea di Schimke | Sindrome di Schimke · Sindrome nefrosica da displasia spondiloepifisaria |
| nl | Immuno-ossale dysplasie, Schimke-type | Spondylo-epifysaire dysplasie - nefrotisch syndroom · Syndroom van Schimke |
| pt | Displasia imuno-óssea de Schimke | Displasia espondilo-epifisária-síndrome nefrótico · Síndrome Schimke |
| pl | Dysplazja immunologiczno-kostna Schimke | Dyspalzaja kręgowow-nasadowa-zespół nefrotyczny · Zespół Schimke |
| cs | Schimkeho imunooseální dysplázie | Schimkeho syndrom · Syndrom zahrnující spondyloepifyzární dysplázii a nefrotický syndrom |
| uk | Імунно-кісткова дисплазія Шимке | Синдром Шимке · Спондилоепіфізарна дисплазія-нефротичний синдром |
| zh | Schimke免疫性骨发育不良 | 脊柱骨骺发育不良-肾病综合征 |
| tr | Schimke immüno-osseoz displazi | Schimke sendromu · Spondiloepifizyal displazi-nefrotik sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242900 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | 4A01.32 | NTBT | index | validated |
| MONDO | 0009458 | E | validated | |
| MeSH | C536629 | E | validated | |
| UMLS | C0877024 | E | validated | |
| GARD | 4984 | E | validated | |
| MedDRA | 10048699 | 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 (4):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:169349Immuno-osseous dysplasia
rare genetic diseases; rare immunological diseases - ORPHA:180766Malformative syndrome with dentinogenesis imperfecta
rare developmental anomalies during embryogenesis; rare genetic diseases; rare odontological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCAL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11102 | ENSG00000138375 | 606622 | 2q35 | SNF2 related chromatin remodeling annealing helicase 1 | 20301550[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 133 cases | Worldwide | Case(s) | Validated | 37051678[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 37051678[PMID]_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
73 annotations · validated 2021-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031409 | Abnormal lymphocyte physiology | |
| HP:0003368 | Abnormality of the femoral head | |
| HP:0000097 | Focal segmental glomerulosclerosis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000112 | Nephropathy | |
| HP:0000093 | Proteinuria | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001999 | Abnormal facial shape | |
| HP:0410373 | Abnormal proportion of naive CD4 T cells | |
| HP:0011840 | Abnormality of T cell physiology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002926 | Abnormality of thyroid physiology | |
| HP:0001903 | Anemia | |
| HP:0002621 | Atherosclerosis | |
| HP:0000455 | Broad nasal tip | |
| HP:0002637 | Cerebral ischemia | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002315 | Headache | |
| HP:0003077 | Hyperlipidemia | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0000822 | Hypertension | |
| HP:0008839 | Hypoplastic pelvis | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0001888 | Lymphopenia | |
| HP:0000691 | Microdontia | |
| HP:0001003 | Multiple lentigines | |
| HP:0012593 | Nephrotic range proteinuria | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0000926 | Platyspondyly | |
| HP:0001622 | Premature birth | |
| HP:0002719 | Recurrent infections | |
| HP:0410377 | Reduced proportion of naive CD8 T cells | |
| HP:0001250 | Seizure | |
| HP:0005352 | Severe T-cell immunodeficiency | |
| HP:0003182 | Shallow acetabular fossae | |
| HP:0002655 | Spondyloepiphyseal dysplasia | |
| HP:0001297 | Stroke | |
| HP:0008784 | Wide capital femoral epiphyses | |
| Occasional (29-5%) | ||
| HP:0006344 | Abnormality of primary molar morphology | |
| HP:0002381 | Aphasia | |
| HP:0004931 | Arteriosclerosis of small cerebral arteries | |
| HP:0001635 | Congestive heart failure | |
| HP:0007957 | Corneal opacity | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001260 | Dysarthria | |
| HP:0001508 | Failure to thrive | |
| HP:0006813 | Focal hemiclonic seizure | |
| HP:0001269 | Hemiparesis | |
| HP:0002301 | Hemiplegia | |
| HP:0000668 | Hypodontia | |
| HP:0002140 | Ischemic stroke | |
| HP:0002907 | Microscopic hematuria | |
| HP:0012579 | Minimal change glomerulonephritis | |
| HP:0001324 | Muscle weakness | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000470 | Short neck | |
| HP:0001518 | Small for gestational age | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0002133 | Status epilepticus | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002326 | Transient ischemic attack | |
| Very rare (<4-1%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0002960 | Autoimmunity | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0002376 | Developmental regression | |
| HP:0001298 | Encephalopathy | |
| HP:0005523 | Lymphoproliferative disorder | |
| HP:0012539 | Non-Hodgkin lymphoma | |
| HP:0001733 | Pancreatitis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30695151[PMID]_20301550[PMID]_28796785[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1830
- This record as JSON: /data/d/1830.json