NORD^® Rare Disease Database

episodic ataxia type 2

late-onset Parkinson disease

Also known as: LOPD, PARK, PD, Parkinson disease, age of onset, modifier, Multifactorial, Parkinson disease, late-onset, Parkinson disease, late-onset, susceptibility to, Multifactorial, Parkinson disease, susceptibility to, Multifactorial, autosomal dominant late-onset Parkinson disease, hereditary late onset Parkinson disease, hereditary late-onset Parkinson disease, late onset Parkinson disease, late onset Parkinson's disease, late-onset Parkinson disease

autosomal recessive Parkinson disease 14

Also known as: PARK14, PLA2G6 hereditary late onset Parkinson disease, PLA2G6-related dystonia-parkinsonism, Parkinson disease 14, autosomal recessive, adult-onset dystonia - parkinsonism, autosomal recessive Parkinson disease type 14, autosomal recessive Parkinson's disease 14, dystonia-Parkinsonism Adult-onset, dystonia-Parkinsonism, adult-onset, dystonia-parkinsonism, Paisan-Ruiz type, hereditary late onset Parkinson disease caused by mutation in PLA2G6

X-linked dystonia-parkinsonism

Also known as: DYT-TAF1, DYT3, Lubag, Lubag syndrome, X-linked dystonia Parkinsonism, X-linked dystonia-Parkinsonism syndrome, X-linked dystonia-parkinsonism/Lubag, X-linked torsion dystonia-Parkinsonism syndrome, XDP, dystonia 3, torsion, X-linked, dystonia-Parkinsonism, X-linked, dystonia-Parkinsonism, X-linked, X-linked recessive, torsion dystonia-Parkinsonism, Filipino type

paroxysmal nocturnal hemoglobinuria 1

Also known as: PIGA paroxysmal nocturnal hemoglobinuria, PNH1, pIgA paroxysmal nocturnal hemoglobinuria, paroxysmal nocturnal hemoglobinuria 1, paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA, paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA, paroxysmal nocturnal hemoglobinuria type 1, paroxysmal nocturnal hemoglobinuria, somatic

episodic ataxia type 1

Also known as: EA1, Isaacs-Mertens syndrome, KCNA1 hereditary episodic ataxia, acetazolamide-responsive periodic ataxia, ataxia, episodic, with myokymia, continuous muscle fiber activity, continuous muscle fiber activity, hereditary, continuous muscle fibre activity, continuous muscle fibre activity, hereditary, episodic ataxia with myokymia, episodic ataxia, type 1, episodic ataxia/myokymia syndrome, familial paroxysmal kinesigenic ataxia and continuous myokymia, hereditary episodic ataxia caused by mutation in KCNA1, hereditary paroxysmal ataxia with neuromyotonia, myokymia 1, myokymia 1 with or without hypomagnesemia, myokymia with periodic ataxia, paroxysmal ataxia with neuromyotonia, hereditary

amyotrophic lateral sclerosis-parkinsonism-dementia complex

Also known as: ALS-pDC, Guam disease, Lytico-Bodig disease, Lytigo-Bodig disease, PDALS, Parkinsonism-dementia-ALS complex, amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam, amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1, amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam, amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1, amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome, amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to

autosomal dominant Parkinson disease 8

Also known as: LRRK2 Parkinson disease, PARK8, Parkinson disease 8, Parkinson disease 8, autosomal dominant, Parkinson disease caused by mutation in LRRK2, autosomal dominant Parkinson disease 8, autosomal dominant Parkinson disease type 8, autosomal dominant Parkinson's disease 8

X-linked sideroblastic anemia with ataxia

Also known as: ASAT, Pagon Bird Detter syndrome, Pagon-Bird-Detter syndrome, X-linked sideroblastic Anaemia and ataxia, X-linked sideroblastic Anemia and ataxia, X-linked sideroblastic anaemia and ataxia, X-linked sideroblastic anaemia and spinocerebellar ataxia, X-linked sideroblastic anaemia with spinocerebellar ataxia, X-linked sideroblastic anemia and ataxia, X-linked sideroblastic anemia and spinocerebellar ataxia, X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with spinocerebellar ataxia, XLSA-A, Xlsa-A, anaemia sideroblastic and spinocerebellar ataxia, anemia sideroblastic and spinocerebellar ataxia, anemia, Sex-linked hypochromic Siderobla, anemia, sideroblastic, and spinocerebellar ataxia, anemia, sideroblastic, with ataxia, X-linked recessive, sideroblastic anaemia with spinocerebellar ataxia, sideroblastic anemia with spinocerebellar ataxia

generalized epilepsy-paroxysmal dyskinesia syndrome

Also known as: GEPD, PNKD3, epilepsy, generalized, with paroxysmal dyskinesia, generalised epilepsy and paroxysmal dyskinesia, generalized epilepsy and paroxysmal dyskinesia, paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy, paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy

paroxysmal nonkinesigenic dyskinesia 1

Also known as: PNKD paroxysmal dyskinesia, PNKD1, PxMD-PNKD, choreoathetosis, familial paroxysmal, choreoathetosis, nonkinesigenic, dystonia 8, mount-reback syndrome, paroxysmal dyskinesia caused by mutation in PNKD, paroxysmal dystonic choreoathetosis, paroxysmal nonkinesigenic dyskinesia 1, paroxysmal nonkinesigenic dyskinesia type 1

fragile X-associated tremor/ataxia syndrome

Also known as: FXTAS, FXTAS syndrome, Fragile X tremor/ataxia syndrome, X-linked dominant, fragile 10 tremor/ataxia syndrome, fragile X tremor/ataxia syndrome

autosomal dominant Parkinson disease 4

Also known as: PARK4, Parkinson disease 4, autosomal dominant, Parkinson disease 4, autosomal dominant Lewy body, autosomal dominant Lewy body Parkinson disease 4, autosomal dominant Parkinson disease 4, autosomal dominant Parkinson disease type 4, autosomal dominant Parkinson's disease 4

autosomal recessive early-onset Parkinson disease 23

Also known as: PARK23, Parkinson disease 23, autosomal recessive early-onset, Parkinson disease 23, autosomal recessive, early onset, VPS13C young-onset Parkinson disease, autosomal recessive early-onset Parkinson disease 23, autosomal recessive early-onset Parkinson's disease 23, autosomal recessive early-onset Parksinson disease type 23, young-onset Parkinson disease caused by mutation in VPS13C

Parkinson disease 17

Also known as: PARK17, Parkinson disease 17, Parkinson disease caused by mutation in VPS35, Parkinson disease type 17, Parkinson's disease 17, VPS35 Parkinson disease, autosomal dominant Parkinson disease 17

chorea, benign familial

Also known as: benign hereditary chorea, chorea familial benign, chorea, benign familial

autosomal dominant Parkinson disease 1

Also known as: PARK1, Parkinson disease 1, autosomal dominant, Parkinson disease 1, autosomal dominant Lewy body, atypical Parkinson disease, autosomal dominant Parkinson disease 1, autosomal dominant Parkinson disease type 1, autosomal dominant Parkinson's disease 1

paroxysmal nocturnal hemoglobinuria 2

Also known as: PIGT paroxysmal nocturnal hemoglobinuria, PNH2, paroxysmal nocturnal hemoglobinuria 2, paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation, paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT, paroxysmal nocturnal hemoglobinuria type 2

chorea-acanthocytosis

Also known as: CHAC, CHOREOACANTHOCYTOSIS, Chac, Levine-Critchley syndrome, acanthocytosis with neurologic disorder, chorea acanthocytosis, chorea-acanthocytosis, choreaacanthocytosis, choreo-acanthocytosis, choreoacanthocytosis, neuroacanthocytosis

Parkinson disease 22, autosomal dominant

Also known as: CHCHD2 Parkinson disease, PARK22, Parkinson disease 22, autosomal dominant, Parkinson disease 22, autosomal dominant; PARK22, Parkinson disease caused by mutation in CHCHD2

parkinsonism-dystonia, infantile

Also known as: IPD, PARKINSONISM-dystonia, infantile, PKDYS, Parkinsonism-dystonia infantile, dopamine transporter deficiency syndrome, infantile Parkinsonism-dystonia, parkinsonism-dystonia, infantile

childhood onset GLUT1 deficiency syndrome 2

Also known as: DYT-SLC2A1, DYT18, GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 2, childhood onset, GLUT1 deficiency syndrome type 2, GLUT1DS2, PED, PxMD-SLC2A1, childhood onset GLUT1 deficiency syndrome 2, childhood onset GLUT1 deficiency syndrome type 2, dystonia 18, paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia, paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia, paroxysmal exercise-induced dystonia, paroxysmal exertion-induced dyskinesia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia, ped, ped with or without epilepsy and/or hemolytic Anaemia, ped with or without epilepsy and/or hemolytic Anemia

hereditary progressive chorea without dementia

Also known as: BCH, BHC, chorea, benign hereditary, chorea, hereditary benign, hereditary progressive chorea without dementia

paroxysmal familial ventricular fibrillation

Also known as: IVF, idiopathic ventricular fibrillation, idiopathic ventricular fibrillation, non Brugada type, paroxysmal familial ventricular fibrillation, paroxysmal familial ventricular fibrillation (disorder), paroxysmal ventricular fibrillation, ventricular fibrillation, paroxysmal familial

autosomal recessive spinocerebellar ataxia 12

Also known as: SCAR12, WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome, WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome, autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX, autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX, autosomal recessive spinocerebellar ataxia 12, autosomal recessive spinocerebellar ataxia type 12, spinocerebellar ataxia with intellectual disability and epilepsy, spinocerebellar ataxia with mental retardation and epilepsy, spinocerebellar ataxia, autosomal recessive 12, spinocerebellar ataxia, autosomal recessive type 12