Combined immunodeficiency due to CRAC channel dysfunction

General Information (adopted from Orphanet):

Synonyms, Signs: Immune dysfunction due to T-cell inactivation due to calcium entry defect
Number of Symptoms 28
OrphanetNr: 169090
OMIM Id: 612782
612783
ICD-10: D81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal 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: Sort by abundance 

1
 (HPO:0011107) Recurrent aphthous stomatitis 13 / 7739
2
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
3
 (HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
4
 (HPO:0000389) Chronic otitis media Very frequent [Orphanet] 64 / 7739
5
 (HPO:0001287) Meningitis Very frequent [Orphanet] 46 / 7739
6
 (HPO:0002355) Difficulty walking 61 / 7739
7
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
8
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
9
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
10
 (HPO:0001508) Failure to thrive 454 / 7739
11
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
12
 (HPO:0001878) Hemolytic anemia Occasional [Orphanet] 83 / 7739
13
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
14
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
15
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
16
 (HPO:0001954) Episodic fever 27 / 7739
17
 (HPO:0002046) Heat intolerance 13 / 7739
18
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
19
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
20
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
21
 (HPO:0002719) Recurrent infections 107 / 7739
22
 (HPO:0002721) Immunodeficiency 97 / 7739
23
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
24
 (HPO:0100806) Sepsis Very frequent [Orphanet] 48 / 7739
25
 (HPO:0003391) Gowers sign 37 / 7739
26
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
27
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: