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Results: 15

1.

DNA damage

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS. [from MeSH]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
2.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
3.

Ataxia-telangiectasia-like disorder

Ataxia-telangiectasia-like disorder-1 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 shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999). Genetic Heterogeneity of Ataxia-Telangiectasia-Like Disorder See also ATLD2 (615919), caused by mutation in the PCNA gene (176740) on chromosome 20p12. [from OMIM]

MedGen UID:
348929
Concept ID:
C1858391
Disease or Syndrome
4.

Ataxia

unable to coordinate muscle movement [from CHV]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
5.

Ataxia-telangiectasia syndrome

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 to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. [from NCBI]

MedGen UID:
439
Concept ID:
C0004135
Disease or Syndrome
6.

Dead

MedGen UID:
736056
Concept ID:
C1546956
Finding
7.

Strand breaks

MedGen UID:
549441
Concept ID:
C0301647
Molecular Function
8.

Separation

MedGen UID:
508125
Concept ID:
C0036679
Pathologic Function
9.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
504767
Concept ID:
CN001146
Finding
10.

Ataxia

MedGen UID:
472353
Concept ID:
C1135207
Pathologic Function
11.

Adult onset ataxia with oculomotor apraxia

Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. Oculomotor apraxia, usually noticed a few years after the onset of ataxia, progresses to external ophthalmoplegia. All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. Intellect remains normal in some individuals; in others, different degrees of cognitive impairment have been observed. [from GeneReviews]

MedGen UID:
395301
Concept ID:
C1859598
Disease or Syndrome
12.

Telangiectasia

MedGen UID:
369777
Concept ID:
C1963248
Finding
13.

DNA Breaks

Interruptions in the sugar-phosphate backbone of DNA. [from MeSH]

MedGen UID:
354581
Concept ID:
C1721104
Molecular Function
14.

DNA Breaks, Double-Stranded

Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently. [from MeSH]

MedGen UID:
267994
Concept ID:
C1511667
Cell or Molecular Dysfunction
15.

Deoxyribonucleases

Enzymes which catalyze the hydrolases of ester bonds within DNA. EC 3.1.-. [from MeSH]

MedGen UID:
8321
Concept ID:
C0011522
Pharmacologic Substance

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