Siegler-Brewer-Carey syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr: 3167
OMIM Id:
ICD-10:
UMLs: C2931473
MeSH: C537335
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic respiratory disease
 -Rare genetic disease
Rare pulmonary disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
2
 (HPO:0000083) Renal insufficiency Very frequent [Orphanet] 232 / 7739
3
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
4
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
5
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
6
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
7
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
8
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: