Hemolytic uremic syndrome with DGKE deficiency
Synonyms: HUS with DGKE deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy
- Status
- active
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemolytic uremic syndrome with DGKE deficiency | HUS with DGKE deficiency |
| fr | Syndrome hémolytique et urémique par déficit en DGKE | HUS par déficit en DGKE · SHU par déficit en DGKE |
| de | Hämolytisch-urämisches Syndrom mit DGKE-Mangel | HUS mit DGKE-Mangel |
| es | Síndrome urémico hemolítico con deficiencia de DGKE | SHU con deficiencia de DGKE |
| it | Sindrome emolitico-uremica atipica con deficit di DGKE | D-HUS con deficit di DGKE · HUS atipica con deficit di DGKE · Sindrome emolitico-uremica senza diarrea con deficit di DGKE · aHUS con deficit di DGKE |
| nl | Hemolytisch-uremisch syndroom met DGKE-deficiëntie | HUS met DGKE-deficiëntie |
| pt | Síndrome hemolitico-urémico com défice de DGKE | |
| pl | Atypowy zespół hemolityczno-mocznicowy z niedoborem DGKE | aHUS z niedoborem DGKE · Atypowy HUS z niedoborem DGKE · D-HUS z niedoborem DGKE · Zespół hemolityczno-mocznicowy bez biegunki z niedoborem DGKE |
| cs | Atypický hemolyticko-uremický syndrom s deficitem DGKE | Atypický HUS s deficitem DGKE · D- HUS s deficitem DGKE · aHUS s deficitem DGKE · Hemolyticko-uremický syndrom bez průjmu s deficitem DGKE |
| uk | Гемолітико-уремічний синдром з дефіцитом DGKE | HUS з дефіцитом DGKE |
| zh | DGKE基因缺陷性溶血性尿毒综合征 | HUS伴DGKE基因缺陷 |
| tr | DGKE eksikliği ile seyreden hemolitik üremik sendrom | DGKE eksikliği ile seyreden HUS |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615008 | NTBT | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 3A10 | NTBT | attributed | validated |
| MONDO | 0018159 | E | validated | |
| MONDO | 18159 | E | validated | |
| UMLS | C5679921 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:576742Genetic hemolytic uremic syndrome
rare genetic diseases; rare hematological diseases - ORPHA:544458Hemolytic uremic syndrome
rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DGKE | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2852 | ENSG00000153933 | 601440 | 17q22 | diacylglycerol kinase epsilon | 23542698[PMID]_20301541[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 47 cases | Worldwide | Case(s) | Validated | 23542698[PMID]_28526779 [PMID]_ 28242109[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28526779 [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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/357008
- This record as JSON: /data/d/357008.json