Information on subject 102155
Basic details
Sex: Unknown
Country: France
Population: Italian
Consanguinity: Unknown
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2011 [103] P2
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
FCAS2 |
Familial Cold Autoinflammatory Syndrome 2 | AD |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| NLRP12 |
R352C |
EX3 | c.1054C>T | p.Arg352Cys | missense_variant | Risk allele | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Lymphadenopathy |
Yes | ||
| Unk. | Myalgia |
Yes | ||
| Unk. | Nervous system abnormality |
No | ||
| Unk. | Hearing impairment |
No | ||
| Unk. | proteinuria |
No | ||
| Unk. | Visual loss |
No | ||
| Unk. | Skin rash |
Yes | ||
| Unk. | Abdominal pain |
Yes | ||
| Unk. | Chest pain |
No | ||
| Unk. | Recurrent fevers |
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