Autozomal recesivă
O boală a cărei cauză de bază este perturbarea reparării ADN-ului.
Gene analizate
Denumită și
chromosome instability syndrome; deficiency of DNA repair; deficient DNA repair; disorder of DNA repair; DNA repair deficiency disorders; DNA repair deficiency; DNA repair disorder; DNA repair-deficiencies
Include 69 subtipuri înrudite ↓Ascunde subtipurile ↑
- ataxia and polyneuropathy, adult-onset
- ataxia-telangiectasia-like disorder 1
- ataxia-telangiectasia-like disorder 2
- ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- cerebrooculofacioskeletal syndrome 1
- cerebrooculofacioskeletal syndrome 2
- cerebrooculofacioskeletal syndrome 3
- cerebrooculofacioskeletal syndrome 4
- Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
- Cockayne syndrome
- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Cockayne syndrome type 3
- COFS syndrome
- Fanconi anemia
- Fanconi anemia complementation group A
- Fanconi anemia complementation group B
- Fanconi anemia complementation group C
- Fanconi anemia complementation group D1
- Fanconi anemia complementation group D2
- Fanconi anemia complementation group E
- Fanconi anemia complementation group F
- Fanconi anemia complementation group G
- Fanconi anemia complementation group I
- Fanconi anemia complementation group J
- Fanconi anemia complementation group L
- Fanconi anemia complementation group N
- Fanconi anemia complementation group O
- Fanconi anemia complementation group P
- Fanconi anemia complementation group Q
- Fanconi anemia complementation group R
- Fanconi anemia complementation group T
- Fanconi anemia complementation group U
- Fanconi anemia complementation group V
- fanconi anemia, complementation group 10
- Fanconi anemia, complementation group S
- Fanconi anemia, complementation group W
- karyomegalic interstitial nephritis
- mismatch repair cancer syndrome
- mismatch repair cancer syndrome 1
- mismatch repair cancer syndrome 2
- mismatch repair cancer syndrome 3
- mismatch repair cancer syndrome 4
- Nijmegen breakage syndrome
- Nijmegen breakage syndrome-like disorder
- photosensitive trichothiodystrophy
- severe combined immunodeficiency due to DCLRE1C deficiency
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
- trichothiodystrophy 1, photosensitive
- trichothiodystrophy 2, photosensitive
- trichothiodystrophy 3, photosensitive
- UV-sensitive syndrome
- UV-sensitive syndrome 1
- UV-sensitive syndrome 2
- UV-sensitive syndrome 3
- xeroderma pigmentosum
- xeroderma pigmentosum group A
- xeroderma pigmentosum group B
- xeroderma pigmentosum group C
- xeroderma pigmentosum group D
- xeroderma pigmentosum group E
- xeroderma pigmentosum group F
- xeroderma pigmentosum group G
- xeroderma pigmentosum variant type
- xeroderma pigmentosum, autosomal dominant, mild
- xeroderma pigmentosum, complementation group J
