ATAXIA-TELANGIECTASIA

General Information (adopted from Orphanet):

Synonyms, Signs: AT, COMPLEMENTATION GROUP C, INCLUDED
ATA, INCLUDED
AT, COMPLEMENTATION GROUP D, INCLUDED
ATAXIA-TELANGIECTASIA VARIANT, INCLUDED
AT, COMPLEMENTATION GROUP E, INCLUDED
ATC, INCLUDED
ATD, INCLUDED
ATE, INCLUDED
LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A, INCLUDED
AT
AT1
Number of Symptoms 44
OrphanetNr:
OMIM Id: 208900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008669) Abnormal spermatogenesis 11 / 7739
2
(HPO:0000135) Hypogonadism 89 / 7739
3
(HPO:0000246) Sinusitis 73 / 7739
4
(HPO:0000496) Abnormality of eye movement 79 / 7739
5
(HPO:0001337) Tremor 200 / 7739
6
(HPO:0001260) Dysarthria 329 / 7739
7
(HPO:0001251) Ataxia 413 / 7739
8
(HPO:0001336) Myoclonus 115 / 7739
9
(HPO:0001266) Choreoathetosis 57 / 7739
10
(HPO:0001315) Reduced tendon reflexes 160 / 7739
11
(HPO:0001332) Dystonia 197 / 7739
12
(HPO:0001250) Seizures 1245 / 7739
13
(HPO:0000823) Delayed puberty 65 / 7739
14
(HPO:0000819) Diabetes mellitus 131 / 7739
15
(HPO:0004322) Short stature 1232 / 7739
16
(HPO:0000957) Cafe-au-lait spot 84 / 7739
17
(HPO:0001009) Telangiectasia 46 / 7739
18
(HPO:0012189) Hodgkin lymphoma 5 / 7739
19
(HPO:0005403) T lymphocytopenia 10 / 7739
20
(HPO:0012539) Non-Hodgkin lymphoma 2 / 7739
21
(HPO:0002720) IgA deficiency 33 / 7739
22
(HPO:0001909) Leukemia 46 / 7739
23
(HPO:0005357) Defective B cell differentiation 2 / 7739
24
(HPO:0001888) Lymphopenia 43 / 7739
25
(HPO:0006254) Elevated alpha-fetoprotein 10 / 7739
26
(HPO:0000833) Glucose intolerance 20 / 7739
27
(HPO:0012387) Bronchitis 8 / 7739
28
(HPO:0002110) Bronchiectasis 73 / 7739
29
(HPO:0000778) Hypoplasia of the thymus 13 / 7739
30
(OMIM) Cerebellar cortical degeneration 1 / 7739
31
(OMIM) Progeric skin changes 1 / 7739
32
(OMIM) Reduced CD4+ T cells 1 / 7739
33
(OMIM) Immunoglobulin antibodies present 1 / 7739
34
(OMIM) Reduced IgE levels 1 / 7739
35
(OMIM) Increased risk in heterozygotes 1 / 7739
36
(OMIM) CD4+/CD8+ ratio is reversed 1 / 7739
37
(OMIM) Increased levels of carcinoembryonic antigen 1 / 7739
38
(OMIM) Reduced levels of cells with IgM receptors 1 / 7739
39
(OMIM) Sclerodermatous skin changes 1 / 7739
40
(OMIM) Normal number of B cells 7 / 7739
41
(OMIM) Monomeric IgM 1 / 7739
42
(OMIM) Reduced IgG levels, particularly the IgG2 subclass 1 / 7739
43
(OMIM) Progeric hair changes 1 / 7739
44
(OMIM) Increased levels of T cells bearing gamma/delta antigen receptor 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant ...
Clinical Description OMIM - Homozygotes

Patients present in early childhood with progressive cerebellar ataxia and later develop conjunctival telangiectases, other progressive neurologic degeneration, sinopulmonary infection, and malignancies. Telangiectases typically develop between 3 and 5 years of age. The earlier ...

Molecular genetics OMIM Savitsky et al. (1995) identified mutations in the ATM gene in ataxia-telangiectasia cases of complementation groups A, C, D, and E and in 4 other patients in whom the complementation group was not determined (see, e.g., 607585.0001). Thus ...
Population genetics OMIM On the basis of a 'vigorous case finding' in the United States in 2 time periods, Swift et al. (1986) estimated the incidence and gene frequency of AT. The highest observed incidence was in the state of Michigan ...