MCID: ATX021
MIFTS: 16

Ataxia - Hypogonadism - Choroidal Dystrophy

Categories: Rare diseases

Aliases & Classifications for Ataxia - Hypogonadism - Choroidal Dystrophy

MalaCards integrated aliases for Ataxia - Hypogonadism - Choroidal Dystrophy:

Name: Ataxia - Hypogonadism - Choroidal Dystrophy 54
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 26 74
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome 54 26
Boucher-Neuhäuser Syndrome 54 26
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy 26
Chorioretinal Dystrophy, Spinocerebellar Ataxia and Hypogonadotropic Hypogonadism 54
Cerebellar Ataxia with Hypogonadism and Choroidal Dystrophy Syndrome 26
Bnhs 26
Bns 26

Classifications:



External Ids:

UMLS 74 C1859093

Summaries for Ataxia - Hypogonadism - Choroidal Dystrophy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1180Disease definitionAtaxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Ataxia - Hypogonadism - Choroidal Dystrophy, also known as chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism, is related to bulimia nervosa and boucher-neuhauser syndrome, and has symptoms including action tremor, scanning speech and cerebellar ataxia. Affiliated tissues include neutrophil.

Related Diseases for Ataxia - Hypogonadism - Choroidal Dystrophy

Diseases related to Ataxia - Hypogonadism - Choroidal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 bulimia nervosa 11.9
2 boucher-neuhauser syndrome 11.3
3 anorexia nervosa 11.3
4 gordon holmes syndrome 11.2
5 megalocornea-mental retardation syndrome 10.9
6 megalocornea-intellectual disability syndrome 10.9
7 hypogonadism 10.8
8 hypogonadotropism 10.8
9 hypogonadotropic hypogonadism 10.7
10 ataxia and polyneuropathy, adult-onset 10.5
11 autosomal dominant cerebellar ataxia 10.5
12 bowenoid papulosis 10.4
13 aceruloplasminemia 10.4
14 movement disease 10.4
15 cerebellar degeneration 10.4
16 autoimmune disease 10.1
17 nevus comedonicus 10.0
18 glomerulonephritis 10.0
19 autoimmune glomerulonephritis 10.0
20 variola major 10.0
21 extrinsic allergic alveolitis 10.0
22 smallpox 10.0
23 isolated optic neuritis 10.0
24 cardiac arrhythmia 9.9
25 neutrophil migration 9.9
26 ventricular fibrillation, paroxysmal familial, 1 9.9
27 salla disease 9.9
28 becker nevus syndrome 9.9
29 maturity-onset diabetes of the young 9.9
30 allergic rhinitis 9.9
31 granulomatosis with polyangiitis 9.9
32 intraocular pressure quantitative trait locus 9.9
33 graft-versus-host disease 9.9
34 pulmonary hypertension, primary, 3 9.9
35 blood group, gerbich system 9.9
36 diabetes mellitus 9.9
37 hydrocephalus 9.9
38 wrinkles 9.9
39 bacterial sepsis 9.9
40 obstructive jaundice 9.9
41 neuritis 9.9
42 dermatitis 9.9
43 ischemia 9.9
44 vaccinia 9.9
45 rhinitis 9.9
46 eating disorder 9.9
47 stomatitis 9.9
48 congenital hydrocephalus 9.9
49 parainfluenza virus type 3 9.9
50 spondyloenchondrodysplasia 9.9

Graphical network of the top 20 diseases related to Ataxia - Hypogonadism - Choroidal Dystrophy:



Diseases related to Ataxia - Hypogonadism - Choroidal Dystrophy

Symptoms & Phenotypes for Ataxia - Hypogonadism - Choroidal Dystrophy

UMLS symptoms related to Ataxia - Hypogonadism - Choroidal Dystrophy:


action tremor, scanning speech, cerebellar ataxia

Drugs & Therapeutics for Ataxia - Hypogonadism - Choroidal Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Ataxia - Hypogonadism - Choroidal Dystrophy

Genetic Tests for Ataxia - Hypogonadism - Choroidal Dystrophy

Anatomical Context for Ataxia - Hypogonadism - Choroidal Dystrophy

MalaCards organs/tissues related to Ataxia - Hypogonadism - Choroidal Dystrophy:

42
Neutrophil

Publications for Ataxia - Hypogonadism - Choroidal Dystrophy

Articles related to Ataxia - Hypogonadism - Choroidal Dystrophy:

# Title Authors Year
1
A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome). ( 1906382 )
1991

Variations for Ataxia - Hypogonadism - Choroidal Dystrophy

Expression for Ataxia - Hypogonadism - Choroidal Dystrophy

Search GEO for disease gene expression data for Ataxia - Hypogonadism - Choroidal Dystrophy.

Pathways for Ataxia - Hypogonadism - Choroidal Dystrophy

GO Terms for Ataxia - Hypogonadism - Choroidal Dystrophy

Sources for Ataxia - Hypogonadism - Choroidal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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