Autosomal agammaglobulinemia

General Information (adopted from Orphanet):

Synonyms, Signs: Agammaglobulinemia, non-Bruton type
Number of Symptoms 42
OrphanetNr: 33110
OMIM Id: 601495
612692
613500
613501
613502
613506
615214
ICD-10: D80.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated agammaglobulinemia
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
2
 (HPO:0011108) Recurrent sinusitis 30 / 7739
3
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
4
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
5
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
6
 (HPO:0000509) Conjunctivitis 47 / 7739
7
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
8
 (HPO:0000356) Abnormality of the outer ear Occasional [Orphanet] 85 / 7739
9
 (HPO:0000403) Recurrent otitis media 61 / 7739
10
 (HPO:0000389) Chronic otitis media Very frequent [Orphanet] 64 / 7739
11
 (HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
12
 (HPO:0002754) Osteomyelitis Frequent [Orphanet] 37 / 7739
13
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
14
 (HPO:0100280) Crohn's disease 3 / 7739
15
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
16
 (HPO:0002014) Diarrhea Very frequent [Orphanet] 225 / 7739
17
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
18
 (HPO:0001508) Failure to thrive 454 / 7739
19
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
20
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
21
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
22
 (HPO:0001874) Abnormality of neutrophils Occasional [Orphanet] 47 / 7739
23
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
24
 (HPO:0004432) Agammaglobulinemia 17 / 7739
25
 (HPO:0001875) Neutropenia 83 / 7739
26
 (HPO:0010976) B lymphocytopenia 8 / 7739
27
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
28
 (HPO:0001944) Dehydration Occasional [Orphanet] 59 / 7739
29
 (HPO:0002110) Bronchiectasis Occasional [Orphanet] 73 / 7739
30
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
31
 (HPO:0006532) Recurrent pneumonia 48 / 7739
32
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
33
 (HPO:0100806) Sepsis Occasional [Orphanet] 48 / 7739
34
 (HPO:0002743) Recurrent enteroviral infections 2 / 7739
35
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
36
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
37
 (HPO:0003549) Abnormality of connective tissue Occasional [Orphanet] 22 / 7739
38
 ([DEL]MedDRA:10011224) Cough Very frequent [Orphanet] 70 / 7739
39
 (HPO:0012740) Papilloma Occasional [Orphanet] 17 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (HPO:0003593) Infantile onset 249 / 7739
42
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: