Ataxia-telangiectasia-like disorder

General Information (adopted from Orphanet):

Synonyms, Signs: ATLD
Number of Symptoms 23
OrphanetNr: 251347
OMIM Id: 604391
ICD-10:
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: Autosomal recessive cerebellar ataxia due to a DNA repair defect
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
 -Rare genetic disease
 -Rare immune disease
Inherited nervous system cancer-predisposing syndrome
 -Rare neurologic 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:0000640) Gaze-evoked nystagmus 27 / 7739
2
 (HPO:0007772) Impaired smooth pursuit 21 / 7739
3
 (HPO:0000571) Hypometric saccades 10 / 7739
4
 (HPO:0000657) Oculomotor apraxia 54 / 7739
5
 (HPO:0001332) Dystonia 197 / 7739
6
 (HPO:0002359) Frequent falls 24 / 7739
7
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
8
 (HPO:0002072) Chorea 53 / 7739
9
 (HPO:0001265) Hyporeflexia 208 / 7739
10
 (HPO:0001260) Dysarthria 329 / 7739
11
 (HPO:0002061) Lower limb spasticity 56 / 7739
12
 (HPO:0002066) Gait ataxia 327 / 7739
13
 (HPO:0001009) Telangiectasia 46 / 7739
14
 (HPO:0003220) Abnormality of chromosome stability 98 / 7739
15
 (HPO:0003693) Distal amyotrophy 118 / 7739
16
 (OMIM) Lower limb spasticity, mild 1 / 7739
17
 (OMIM) Defective DNA repair 1 / 7739
18
 (HPO:0003676) Progressive disorder 148 / 7739
19
 (MedDRA:10036801) Progressive cerebellar degeneration 1 / 7739
20
 (OMIM) Cells show increased sensitivity to ionizing radiation 1 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (HPO:0001272) Cerebellar atrophy 197 / 7739
23
 (OMIM) Distal muscle wasting, mild 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ataxia-telangiectasia-like disorder is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder ...
Clinical Description OMIM Hernandez et al. (1993) reported a large inbred family in which 2 cousins presented with the same clinical features of ataxia-telangiectasia but with a somewhat milder clinical course. Both patients were still ambulatory at ages 25 and 20 ...
Molecular genetics OMIM In 2 families clinically diagnosed with AT and previously reported by Hernandez et al. (1993) and Klein et al. (1996), respectively, Stewart et al. (1999) identified mutations in the MRE11A gene (600814.0001 and 600814.0002). Consistent with the clinical ...