Information on subject 107144
Basic details
Sex: Female
Country: Turkey
Population: Turkish
Consanguinity: Yes
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2015 [1385] Fam.F5:P6
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
DADA2 |
Adenosine deaminase 2 deficiency | AR |
21.00 | 10.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| ADA2 |
G47R |
EX2 | c.139G>A | p.Gly47Arg | missense_variant | Pathogenic | HOM |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
No | ||
| Unk. | Arthralgia |
Yes | ||
| Unk. | Fever |
Yes | ||
| Unk. | Myalgia |
Yes | ||
| Unk. | Stroke |
No | ||
| Unk. | Abdominal pain |
Yes | ||
| Unk. | Strabismus |
No | ||
| Unk. | Nephropathy |
No | ||
| Unk. | Visual impairment |
No | ||
| Unk. | Livedo racemosa |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|
[ℹ] shows name on hover
* Measured during IVIG or other treatment.
Phenotypic & functional assays
| Age | Parameter[ℹ] | Result* | Cells | Methods[ℹ] | Stimuli | Ref. |
|---|
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* Compared to WT controls
📊 shows raw values on hover