ORPHA:33355
Reticular dysgenesis
Synonyms: AK2 deficiency · De Vaal disease · SCID with sensorineural deafness · SCID with sensorineural hearing loss · Severe combined immunodeficiency with sensorineural deafness · Severe combined immunodeficiency with sensorineural hearing loss
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Reticular dysgenesis | AK2 deficiency · De Vaal disease · SCID with sensorineural deafness · SCID with sensorineural hearing loss · Severe combined immunodeficiency with sensorineural deafness · Severe combined immunodeficiency with sensorineural hearing loss |
| fr | Dysgénésie réticulaire | DISC avec surdité · Déficit en AK2 · Déficit immunitaire combiné sévère avec surdité · Immunodéficience combinée sévère avec surdité · Maladie de De Vaal · SCID avec surdité |
| de | Retikuläre Dysgenesie | AK2-Mangel · Adenylatkinase 2-Defizienz · De Vaal-Krankheit · SCID mit sensorineuralem Hörverlust · Schwerer kombinierter Immundefekt mit sensorineuraler Schwerhörigkeit |
| es | Disgenesia reticular | Deficiencia de AK2 · Enfermedad de De Vaal · IDCG con hipoacusia neurosensorial · IDCG con sordera neurosensorial · Inmunodeficiencia combinada grave con hipoacusia neurosensorial · Inmunodeficiencia combinada grave con sordera neurosensorial · SCID con hipoacusia neurosensorial · SCID con sordera neurosensorial |
| it | Disgenesia reticolare | SCID con sordità neurosensoriale · SCID con perdita dell'udito neurosensoriale · Deficit di AK2 · Immunodeficienza combinata grave con sordità neurosensoriale · Immunodeficienza combinata grave con perdita dell'udito neurosensoriale · Malattia di De Vaal |
| nl | Reticulaire dysgenesie | AK2-deficiëntie · Ernstige gecombineerde immuundeficiëntie met sensorineuraal gehoorverlies · Ernstige gecombineerde immuundeficiëntie met sensorineurale doofheid · SCID met sensorineuraal gehoorverlies · SCID met sensorineurale doofheid · Ziekte van De Vaal |
| pt | Disgenesia reticular | Aleucocitose congénita · Doença de De Vaal · Hipoplasia hematopoiética generalizada · Imunodeficiência combinada grave com leucopenia |
| pl | Dysgenezja siateczki | Choroba De Vaala · Ciężki złożony Niedobór odporności z leukopenią · Niedobór AK2 · SCID z leukopenią · Uogólniona hipoplazja hematopoetyczna · Wrodzona aleukocytoza |
| cs | Retikulární dysgeneze | Deficit AK2 · Vrozená aleukocytóza · De Vaalova choroba · Generalizovaná hematopoetická hypoplázie · SCID s leukopenií · Těžká kombinovaná imunodeficience s leukopenií |
| uk | Дисгенезія сітківки | Дефіцит АК2 · Вроджений алейкоцитоз · Хвороба де Ваала · Генералізована гіпоплазія кровотворних органів · ТКІД з лейкопенією · Тяжкий комбінований імунодефіцит з лейкопенією |
| zh | 网状组织发育不全 | 严重联合免疫缺陷病伴白细胞减少 |
| tr | Retiküler disgenezi | AK2 eksikliği · De Vaal hastalığı · Lökopeni ile seyreden SCID · Doğumsal alökositoz · Jeneralize hematopoetik hipoplazi · Lökopeni ile seyreden ağır kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 267500 | E | validated | |
| ICD-10 | D81.0 | E | specific | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0009973 | E | validated | |
| MeSH | C538361 | E | validated | |
| UMLS | C0272167 | E | validated | |
| GARD | 8625 | 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 (1):
- ORPHA:720294T-B-NK- severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AK2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:362 | ENSG00000004455 | 103020 | 1p35.1 | adenylate kinase 2 | 19043416[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.03 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003287 | Abnormality of mitochondrial metabolism | |
| HP:0001874 | Abnormality of neutrophils | |
| HP:0001903 | Anemia | |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | |
| HP:0005374 | Cellular immunodeficiency | |
| HP:0000389 | Chronic otitis media | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002014 | Diarrhea | |
| HP:0000365 | Hearing impairment | |
| HP:0001882 | Leukopenia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0100806 | Sepsis | |
| HP:0004430 | Severe combined immunodeficiency | |
| Frequent (79-30%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0001945 | Fever | |
| HP:0002024 | Malabsorption | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001944 | Dehydration | |
| HP:0000988 | Skin rash | |
| HP:0200042 | Skin ulcer | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33355
- This record as JSON: /data/d/33355.json