AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615952
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth rare [HPO:skoehler] 291 / 7739
2
 (HPO:0000821) Hypothyroidism rare [HPO:skoehler] 141 / 7739
3
 (HPO:0000823) Delayed puberty rare [HPO:skoehler] 65 / 7739
4
 (HPO:0001369) Arthritis rare [HPO:skoehler] 44 / 7739
5
 (HPO:0002608) Celiac disease 5 / 7739
6
 (HPO:0004322) Short stature 1232 / 7739
7
 (HPO:0000964) Eczema 81 / 7739
8
 (HPO:0006515) Interstitial pneumonitis rare [HPO:skoehler] 13 / 7739
9
 (HPO:0002719) Recurrent infections rare [HPO:skoehler] 107 / 7739
10
 (HPO:0002960) Autoimmunity 78 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: