Neurogenetics

Huntington disease:

1. Huntington disease (HD)
   
   Synoniemen: Huntington Chorea
   
   OMIM: 143100
   
   OMIM: Clinical Synopsis
   
   Who named it?:  George Sumner Huntington
   
   MedicineNet: Huntington disease
   
   e-Medicine: Huntington disease

Prion Diseases:

1. Creutzfeldt-Jakob disease
   
   OMIM: 123400
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Hans Gerhard Creutzfeldt ;  Alfons Maria Jakob
   
   MedicineNet:  Creutzfeldt-Jakob disease
   
   e-Medicine: Prion related diseases
   
   
    
2. Kuru
   
   OMIM: 245300
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Kuru
   
   
    
3. Gerstmann-Straussler-Scheinker disease
   
   OMIM: 137440
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Prion related diseases
   
   Who named it?:  Josef Gerstmann  ;  I. Scheinker  ;  Ernst Sträussler
   
   
    
4. Familial fatal insomnia
   
   OMIM: 600072
   
   OMIM: Clinical Synopsis

Kallmann Syndrome:

1. Kallmann syndrome 1     X-linked type
   
   OMIM: 308700
   
   OMIM: Clinical Synopsis
   
   Who named it?: Franz Josef Kallmann
   
   e-Medicine: Kallmann syndrome
   
   Extra informatie: Kallmann Syndrome Website
   
   Click here to download a pdf with extensive information about the Kallmann Syndrome
   
    
2. Kallmann syndrome 2    Autosomal dominant
   
   OMIM: 147950
   
   OMIM: Clinical Synopsis
   
   Who named it?: Franz Josef Kallmann
   
   e-Medicine: Kallmann syndrome
   
   Extra informatie: Kallmann Syndrome Website
   
   Click here to download a pdf with extensive information about the Kallmann Syndrome
   
    
3. Kallmann syndrome 3    autosomal recessive
   
   OMIM: 244200
   
   OMIM: Clinical Synopsis
   
   Who named it?: Franz Josef Kallmann
   
   e-Medicine: Kallmann syndrome
   
   Extra informatie: Kallmann Syndrome Website
   
   Click here to download a pdf with extensive information about the Kallmann Syndrome
    

Spinocerebellar Ataxias:

1. Spinocerebellar Ataxia Type 1
   
   Synoniemen: Spinocerebellar atrophy I;  OPCA 1
   
   OMIM: 164400
   
   OMIM: Clinical Synopsis
   
    
2. Spinocerebellar Ataxia Type 2
   
   Synoniemen: Spinocerebellar atrophy II;  Olivopontocerebellar atrophy, Holguin type
   
   OMIM: 183090
   
   OMIM: Clinical Synopsis
   
    
3. Spinocerebellar Ataxia Type 3   ( Machado - Joseph disease,  MJD )
   
   Synoniemen: Spinocerebellar atrophy III; Azorean neurologic disease
   
   OMIM: 109150
   
   OMIM: Clinical Synopsis
   
    
4. Spinocerebellar Ataxia Type 4 
   
   OMIM: 600223
   
   OMIM: Clinical Synopsis
   
    
5. Spinocerebellar Ataxia Type 5
   
   OMIM: 600224
   
   OMIM: Clinical Synopsis
   
    
6. Spinocerebellar Ataxia Type 6
   
   OMIM: 183086
   
   OMIM: Clinical Synopsis
   
    
7. Spinocerebellar Ataxia Type 7
   
   Synoniemen: Olivopontocerebellar atrophy III;  OPCA3
   
   OMIM: 164500
   
   OMIM: Clinical Synopsis
   
    
8. Infantile - onset Spinocerebellar Ataxia   (  Formerly Spinocerebellar Ataxia Type 8 )
   
   Synoniemen: Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis and Athetosis;  OHAHA syndrome
   
   OMIM: 271245
   
   OMIM: Clinical Synopsis
   
    
9. Spinocerebellar Ataxia Type 9   ( Unassigned )
   
    
10. Spinocerebellar Ataxia Type 10
    
    OMIM: 603516
    
    OMIM: Clinical Synopsis
    
    
     

Charcot-Marie-Tooth Peripheral Neuropathies and Related Disorders:

1. Charcot-Marie-Tooth disease type 1A
   
   Synoniemen:
   
   OMIM: 118220
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Jean Martin Charcot  ;  Johann Hoffmann  ;  Pierre Marie  ;  Howard Henry Tooth
   
   e-Medicine: Charcot-Marie-Tooth disease
   
   GeneReviews: CMT overview
   
    
2. Charcot-Marie-Tooth disease type 1B
   
   Synoniemen: hereditary motor and sensory neuropathy I
   
   OMIM: 118200
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Jean Martin Charcot  ;  Johann Hoffmann  ;  Pierre Marie  ;  Howard Henry Tooth
   
   e-Medicine: Charcot-Marie-Tooth disease
   
   GeneReviews: CMT overview
   
    
3. Charcot-Marie-Tooth disease type 1C
   
   Synoniemen: slow nerve conduction type
   
   OMIM: 601098
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Jean Martin Charcot  ;  Johann Hoffmann  ;  Pierre Marie  ;  Howard Henry Tooth
   
   e-Medicine: Charcot-Marie-Tooth disease
   
   GeneReviews: CMT overview
   
    
4. Charcot-Marie-Tooth disease type 1D
   
   Synoniemen: hereditary motor and sensory neuropathy ID
   
   OMIM: 607678
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Jean Martin Charcot  ;  Johann Hoffmann  ;  Pierre Marie  ;  Howard Henry Tooth
   
   e-Medicine: Charcot-Marie-Tooth disease
   
   GeneReviews: CMT overview
   
    
5. Charcot-Marie-Tooth disease type 1E
   
   OMIM: 118300
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Jean Martin Charcot  ;  Johann Hoffmann  ;  Pierre Marie  ;  Howard Henry Tooth
   
   e-Medicine: Charcot-Marie-Tooth disease
   
   GeneReviews: CMT overview
   
    
6. Charcot-Marie-Tooth disease type 1F
   
   OMIM: 607734
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Jean Martin Charcot  ;  Johann Hoffmann  ;  Pierre Marie  ;  Howard Henry Tooth
   
   e-Medicine: Charcot-Marie-Tooth disease
   
   GeneReviews: CMT overview
   
    
7. Charcot-Marie-Tooth disease, Axonal, Type 2A
   
   OMIM: 118210
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Jean Martin Charcot  ;  Johann Hoffmann  ;  Pierre Marie  ;  Howard Henry Tooth
   
   e-Medicine: Charcot-Marie-Tooth disease
   
   GeneReviews: CMT overview
   
    
8. Charcot-Marie-Tooth disease ( Type 2B to 2K )
   
   CMT2B (600882), CMT2B1 (605588), CMT2B2 (605589), CMT2C (606071), CMT2D (601472), CMT2E (607684), CMT2F (606595), CMT2G (607706), CMT2H (607731), CMT2I (607677), CMT2J (607736), and CMT2K (607831).
   
   Who named it?:  Jean Martin Charcot  ;  Johann Hoffmann  ;  Pierre Marie  ;  Howard Henry Tooth
   
   e-Medicine: Charcot-Marie-Tooth disease
   
   GeneReviews: CMT overview
   
    
9. Hereditary neuropathy with liability to pressure palsies (HNPP)
   
   OMIM: 162500
   
   OMIM: Clinical Synopsis
   
   
    
10. Dejerine-Sottas syndrome (DSS)
    
    OMIM: 145900
    
    OMIM: Clinical Synopsis
    
    Who named it?:  Joseph Jules Dejerine  ; Jules Sottas
    
    Extra informatie: Dejerine-Sottas syndrome
    
    
     
11. Congenital hypomyelinating neuropathy (CHN)
    
    
     
12. Roussy-Levy syndrome (RLS)
    
    OMIM: 180800
    
    OMIM: Clinical Synopsis
    
    Who named it?:  Gustave Roussy  ;  Gabrielle Lévy
    
    Extra informatie: Roussy-Levy syndrome
     

Pelizaeus-Merzbacher Disease and the Allelic Disorder
X-linked Spastic Paraplegia Type 2

1. Ziekte van Pelizaeus-Merzbacher   ( Pelizaeus-Merzbacher Disease )
   
   Who named it?:  Friedrich Pelizaeus ; Ludwig Merzbacher ;
   
   OMIM:  260600  ( Acute Infantile Type;   Perinatal Sudanophilic Leukodystrophy )
   
   OMIM: Clinical Synopsis
   
   OMIM:  169500  ( Autosomal Dominant or Late Onset Type), 
   
   OMIM: Clinical Synopsis
   
   OMIM: 311601    ( Pelizaeus-Merzbacher Like Disease  )
   
   OMIM: Clinical Synopsis
   
   e-Medicine ;  Pelizaeus-Merzbacher’s Disease
   
   Extra informatie:  Ziekte van Pelizaeus-Merzbacher, 
    
   
    
2. Spastic paraplegia-2,  X-Linked;  SPG2
   
   Synoniemen: SPPX2
   
   OMIM: 312920
   
   OMIM: Clinical Synopsis

Aspartoacylase Deficiency (Canavan Disease):

1. Canavan spongiforme leukodystrofie  ( Canavan disease )
   
   Synoniemen voor deze ziekte zijn: Canavan- van Bogaert - Bertrand disease;  spongy degeneration of central nervous system; Aspartoacylase deficiency; ASPA deficiency; ASP deficiency; Aminoacylase 2 deficiency; ACY2 deficiency.
   
   OMIM: 271900
   
   OMIM: Clinical Synopsis
   
   Who Named It?: Myrtelle May Canavan
   
   Extra informatie: 
   
   GeneReviews ;
   
   Canavan Research Illinois ;
   
   Canavan Research Foundation ;
   
   Canavan Foundation ;
   
   Jewish genetic diseases ;
   
   Canavan Disease research ;
   
   Center for Jewish Genetic Disorders

 Inherited Epilepsies:

1. X-linked lissencephaly   ( Subcortical Band Heterotopia Included  )
   
   Synoniemen: XLIS; LISX
   
   OMIM:  300067
   
   OMIM: Clinical Synopsis
   
   
    
2. Miller-Dieker Lissencephaly  ( MDSL  )
   
   Synoniemen: MDS
   
   OMIM:  247200
   
   OMIM: Clinical Synopsis
   
   
    
3. Fukuyama-type congenital muscular dystrophy
   
   Synoniemen: FCMD
   
   OMIM:  253800
   
   OMIM: Clinical Synopsis
   
   
    
4. Schizencephaly
   
   OMIM:  269160
   
   
    
5. Tuberous sclerosis (TS)
   
   Synoniemen: Tuberous sclerosis complex, TSC
   
   OMIM:  191100
   
   OMIM: Clinical Synopsis
   
   
    
6. Sturge Weber syndrome (SWS).
   
   OMIM:  185300
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Sturge Weber syndrome
   
   Who named it?:  William Allen Sturge  ; Frederick Parkes Weber
   
   
    
7. Bilateral periventricular nodular heterotopia (BPNH)
   
   OMIM:  300049
   
   OMIM: Clinical Synopsis
   
   
    
8. Fragile Site, Folic acid type, Rare, FRA(X)(q28), FRAXE
   
   OMIM:  309548
   
   OMIM: Clinical Synopsis
   
   
    
9. Fragile Site, Folic acid type, Rare, FRA(X)(q27.3), FRAXA
   
   OMIM:  309550
   
   OMIM: Clinical Synopsis
   
   
    
10. Fragile Site 11B
    
    OMIM:  600651
    
    
     
11. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
    
    OMIM:  600513
    
    OMIM: Clinical Synopsis

Spinal muscular atrophies (SMA):

1. Spinal muscular atrophy, Type I  ( WERDNIG-HOFFMANN DISEASE )
   
   OMIM:  253300
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Spinal muscular atrophy
   
   
    
2. Spinal muscular atrophy, Type III, ( KUGELBERG-WELANDER SYNDROME )
   
   OMIM:  253400
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Spinal muscular atrophy
   
   Who named it?:  Erik Klas henrik Kugelberg  ; Lisa Welander  ;  Gunnar Wohlfahrt
   
   e-Medicine: Kugelberg-Welander syndrome
   
   
    
3. Bulbar and spinal muscular atrophy, X-Linked ( Kennedy syndrome )
   
   OMIM:  313200
   
   OMIM: Clinical Synopsis
   
   Extra informatie: Kennedy's Disease Association
   
   Who named it?: Robert Foster Kennedy
   
   e-Medicine: Spinal muscular atrophy
   
   
    
4. Spinal muscular atrophy,  Distal
   
   OMIM:  182960
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Spinal muscular atrophy
    

Friedreich Ataxia and AVED:

1. Friedreich ataxia (FRDA)
   
   OMIM:  229300
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Nikolaus Friedreich
   
   e-Medicine: Friedreich ataxia
   
   MDA: Friedreich ataxia
   
   
    
2. Ataxia,  Friedreich Like, with selective vitamin E deficiency;  AVED
   
   OMIM:  277460
   
   OMIM: Clinical Synopsis

Tuberous Sclerosis:

1. Tuberous sclerosis (TS)
   
   Synoniemen: Tuberous sclerosis complex, TSC
   
   OMIM:  191100
   
   OMIM: Clinical Synopsis
   
   
    
2. Tuberous sclerosis 2
   
   OMIM:  191092
   
    

Alzheimer Disease and the Frontotemporal Dementias:

1. Alzheimer disease
   
   OMIM:  104300
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Alois Alzheimer
   
   e-Medicine: Alzheimer disease
   
   
    
2. Lewy body variant of Alzheimer disease
   
   OMIM:  127750
   
   OMIM: Clinical Synopsis
   
   
    
3. Frontotemporal dementias
   
   OMIM:  600274
   
   OMIM: Clinical Synopsis
    

 

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