Ataxia-telangiectasia

General Information (adopted from Orphanet):

Synonyms, Signs: Louis-Bar syndrome
Number of Symptoms 62
OrphanetNr: 100
OMIM Id: 208900
208910
ICD-10: G11.3
UMLs: C0004135
MeSH: D001260
MedDRA: 10003594
Snomed: 68504005

Prevalence, inheritance and age of onset:

Prevalence: 1 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive cerebellar ataxia due to a DNA repair defect
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Conjunctival telangiectasia
 -Rare eye disease
 -Rare genetic disease
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
 -Rare genetic disease
 -Rare immune disease
Genetic skin vascular disease
 -Rare genetic disease
Inherited nervous system cancer-predisposing syndrome
 -Rare neurologic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Non-acquired premature ovarian failure
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Oculomotor apraxia or related oculomotor disease
 -Rare eye disease
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Skin vascular disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000134) Female hypogonadism 5 / 7739
2
 (HPO:0008669) Abnormal spermatogenesis 11 / 7739
3
 (HPO:0000137) Abnormality of the ovary Very frequent [Orphanet] 41 / 7739
4
 (HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
5
 (HPO:0000246) Sinusitis 73 / 7739
6
 (HPO:0002837) Recurrent bronchitis 21 / 7739
7
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
8
 (HPO:0000524) Conjunctival telangiectasia 17 / 7739
9
 (HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
10
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
11
 (HPO:0001336) Myoclonus 115 / 7739
12
 (HPO:0001266) Choreoathetosis 57 / 7739
13
 (HPO:0001337) Tremor Very frequent [Orphanet] 200 / 7739
14
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
15
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
16
 (HPO:0001260) Dysarthria 329 / 7739
17
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
18
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
19
 (HPO:0001251) Ataxia 413 / 7739
20
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
21
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
22
 (HPO:0001332) Dystonia 197 / 7739
23
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
24
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
25
 (HPO:0000823) Delayed puberty 65 / 7739
26
 (HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
27
 (HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
28
 (HPO:0002910) Elevated hepatic transaminases Very frequent [Orphanet] 158 / 7739
29
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
30
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
31
 (HPO:0002216) Premature graying of hair Very frequent [Orphanet] 43 / 7739
32
 (HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
33
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
34
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
35
 (HPO:0001595) Abnormality of the hair 89 / 7739
36
 (HPO:0001022) Albinism Frequent [Orphanet] 43 / 7739
37
 (HPO:0100579) Mucosal telangiectasiae Very frequent [Orphanet] 10 / 7739
38
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
39
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
40
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
41
 (HPO:0001888) Lymphopenia Very frequent [Orphanet] 43 / 7739
42
 (HPO:0005357) Defective B cell differentiation 2 / 7739
43
 (HPO:0005407) Decreased number of CD4+ T cells 6 / 7739
44
 (HPO:0012539) Non-Hodgkin lymphoma 2 / 7739
45
 (HPO:0008348) Immunoglobulin IgG2 deficiency 5 / 7739
46
 (HPO:0001909) Leukemia 46 / 7739
47
 (HPO:0002720) IgA deficiency 33 / 7739
48
 (HPO:0012189) Hodgkin lymphoma 5 / 7739
49
 (HPO:0006254) Elevated alpha-fetoprotein 10 / 7739
50
 (HPO:0000833) Glucose intolerance 20 / 7739
51
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
52
 (HPO:0002110) Bronchiectasis 73 / 7739
53
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
54
 (HPO:0002664) Neoplasm Frequent [Orphanet] 111 / 7739
55
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
56
 (HPO:0002715) Abnormality of the immune system Very frequent [Orphanet] 46 / 7739
57
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
58
 (HPO:0000778) Hypoplasia of the thymus 13 / 7739
59
 (HPO:0010515) Aplasia/Hypoplasia of the thymus Very frequent [Orphanet] 17 / 7739
60
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: