Severe combined immunodeficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SCID |
| Number of Symptoms | 19 |
| OrphanetNr: | 183660 |
| OMIM Id: |
|
| ICD-10: |
D81.0 D81.1 D81.2 D81.3 |
| UMLs: |
C0085110 |
| MeSH: |
D016511 |
| MedDRA: |
10069566 |
| Snomed: |
31323000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Combined T and B cell immunodeficiency
-Rare genetic disease -Rare immune disease |
Symptom Information:
|
|
(HPO:0000010) | Recurrent urinary tract infections | Occasional [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
|
|
(HPO:0000164) | Abnormality of the teeth | Occasional [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0000389) | Chronic otitis media | Occasional [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
|
|
(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
|
|
(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
|
|
(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0000988) | Skin rash | Frequent [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0001596) | Alopecia | Frequent [Orphanet] | 162 / 7739 | |||
|
|
(HPO:0001888) | Lymphopenia | Frequent [Orphanet] | 43 / 7739 | |||
|
|
(HPO:0001945) | Fever | Very frequent [Orphanet] | 218 / 7739 | |||
|
|
(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 | |||
|
|
(HPO:0100763) | Abnormality of the lymphatic system | Very frequent [Orphanet] | 18 / 7739 | |||
|
|
(HPO:0100765) | Abnormality of the tonsils | Frequent [Orphanet] | 10 / 7739 | |||
|
|
(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
|
|
(HPO:0100806) | Sepsis | Very frequent [Orphanet] | 48 / 7739 | |||
|
|
(HPO:0004430) | Severe combined immunodeficiency | Very frequent [Orphanet] | 16 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|