Neurodegenerative disease

Neurodegeneration is the umbrella term for the progressive loss of structure or function of neurons, including death of neurons. As research progresses, many similarities appear which relate these diseases to one another on a sub-cellular level. Neurodegeneration can be found in many different levels of neuronal circuitry ranging from molecular to systemic.

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
606002 ataxia-oculomotor apraxia 2 (AOA2/SCAR1) SETX neurodegenerative disease, mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem spinocerebellar ataxia autosomal recessive type 1 AOA2
SCAR1
208900 ataxia-telangiectasia (AT) ATM neurodegenerative disease, blood cell cancer, psychomotor impairment, skeletal abnormalities, risk of malignant disease, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, CANCER, eye or vision problem Louis-Bar syndrome
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
Boder-Sedgwick syndrome
AT
AT1
DNA damage response (DDR)
602433 amyotrophic lateral sclerosis type 4 SETX neurodegenerative disease ALS4
613077 progressive external ophthalmoplegia, autosomal dominant, with mitochondrial DNA deletions 5 (PEOA5) RRM2B neurodegenerative disease, eye or vision problem progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant PEOA5 modulation of nucleotide pools
216400 Cockayne syndrome, TYPE A ERCC8 (CSA) neurodegenerative disease, mental retardation (MR), premature aging, skeletal abnormalities, sensitivity to radiation, NO CANCER development, eye or vision problem Weber-Cockayne syndrome
Neill-Dingwall Syndrome
CSA nucleotide excision repair (NER)
607250 spinocerebellar ataxia with axonal neuropathy (SCAN1) TDP1 psychomotor impairment, neurodegenerative disease SCAN1 base excision repair (BER)
157640 progressive external ophthalmoplegia, autosomal dominant 1 (PEOA1) POLγ (POLG) neurodegenerative disease, eye or vision problem progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 PEOA1 DNA replication
607426 coenzyme Q10 deficiency (COQ10D) APTX neurodegenerative disease, mental retardation (MR) COQ10D
208920 early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 (EAOH/AOA1) APTX neurodegenerative disease, psychomotor impairment, NO CANCER development, eye or vision problem, immunodeficiency ATAXIA EARLY-ONSET WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ataxia-oculomotor apraxia 1
EAOH
AOA
AOA1

EOCA-HA
EAOH/AOA1
203700 mitochondrial DNA depletion syndrome 4A (Alpers type) MTDPS4A POLγ (POLG) neurodegenerative disease Alpers syndrome
Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
ALPERS-HUTTENLOCHER SYNDROME
NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE
MTDPS4A
PNDC
DNA replication
607459 mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) POLγ (POLG) psychomotor impairment, neurodegenerative disease, eye or vision problem sensory ataxic neuropathy dysarthria and ophthalmoparesis SANDO
SCAE
DNA replication
612075 mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B neurodegenerative disease, eye or vision problem, mental retardation (MR) MTDP8B
MNGIE type
modulation of nucleotide pools
256000 Leigh syndrome (LS) POLγ (POLG) neurodegenerative disease LS DNA replication
613402 microcephaly seizures and development delay (MCSZ) PNKP (PNK) neurodegenerative disease, microcephaly, mental retardation (MR) EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 MCSZ
EIEE10
278780 xeroderma pigmentosum, complementation group G (XPG) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer xeroderma pigmentosum VII XPG
XP7
nucleotide excision repair (NER)
278700 xeroderma pigmentosum, complementation group A (XPA) XPA neurodegenerative disease, skin problem, sensitivity to radiation, skin cancer XERODERMA PIGMENTOSUM I
XP, GROUP A
XPA
XP1
nucleotide excision repair (NER)
610758 cerebro-oculo-facio-skeletal syndrome 4 (COFS4) ERCC1 microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS4 syndrome COFS4 Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
225750 Aicardi-Goutieres syndrome 1 (AGS1) TREX1 (DNase III) microcephaly, neurodegenerative disease, mental retardation (MR), skin problem, immunodeficiency AGS1 syndrome
AGS syndrome
encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
cree encephalitis
pseudotoxoplasmosis syndrome
Aicardi-Goutieres syndrome 1, autosomal dominant, included
AGS1
AGS
Fanconi anemia (FA) pathway
610756 cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) ERCC2 (XPD) neurodegenerative disease, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS2 syndrome COFS2 nucleotide excision repair (NER), transcription factors
xxx8 cerebro-oculo-facio-skeletal syndrome 3 (COFS3) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS3 syndrome COFS3 nucleotide excision repair (NER)
612075 mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) RRM2B neurodegenerative disease ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
MTDPS8A modulation of nucleotide pools
611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (SCID) NHEJ1 (Cernunnos) microcephaly, neurodegenerative disease, skeletal abnormalities, sensitivity to radiation, growth retardation, immunodeficiency SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED
ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHEJ1-SCID non-homologous end-joining (NHEJ)

Last modification date: Aug. 17, 2011