MCID: WRD002
MIFTS: 41

Werdnig-Hoffmann Disease malady

Neuronal diseases, Muscle diseases categories
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Summaries for Werdnig-Hoffmann Disease

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47OMIM, 33MalaCards
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MalaCards: Werdnig-Hoffmann Disease, also known as hmn proximal type i, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Werdnig-Hoffmann Disease is SMN1 (survival of motor neuron 1, telomeric), and among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and Gene Expression. The compounds aclarubicin and phenylbutyrate have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and lung, and related mouse phenotype cellular.

Description from OMIM:47 253300

Aliases & Classifications for Werdnig-Hoffmann Disease

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8Disease Ontology, 62UMLS, 47OMIM, 58SNOMED-CT, 35MeSH, 27ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Muscle diseases


Aliases & Descriptions:

werdnig-hoffmann disease 8
hmn proximal type i 8 62
neuronopathy, distal hereditary motor, type i 62
hereditary motor neuropathy proximal type i 8
progressive muscular atrophy of infancy 8
infantile muscular atrophy 8


External Ids:

Disease Ontology8 DOID:13137
OMIM47 253300
MeSH35 D014897
ICD9CM27 335.0

Related Diseases for Werdnig-Hoffmann Disease

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17GeneCards, 18GeneDecks
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Diseases related to Werdnig-Hoffmann Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy31.3SMN1, SMN2
2muscular atrophy31.1NAIP, GTF2H2, SMN1, SMN2, MAP1B
3amyotrophic lateral sclerosis30.9RPS27A, SYP, NAIP, SMN2, SMN1
4spinal muscular atrophy 130.7GTF2H2, SYP, SMN2, SCO2, NAIP, RPS27A
5motor neuron disease30.6SMN2, SMN1, RPS27A, NAIP
6spinal muscular atrophy type 230.5SMN1, SMN2, NAIP
7neuronitis10.8
8lateral sclerosis10.7
9myopathy10.4
10spinal muscular atrophy type 1 with congenital bone fractures10.3
11spinal muscular atrophy with respiratory distress 110.3
12werdnig-hoffman disease10.3
13spinal muscular atrophy, x-linked 2, infantile10.3
14cystic fibrosis10.3
15diabetes insipidus10.3
16locked-in syndrome10.3
17biliary atresia10.3
18nemaline myopathy10.3
19congenital hypothyroidism10.3
20ataxia telangiectasia10.3
21nephrogenic diabetes insipidus10.3
22hypothyroidism10.3
23laryngitis10.3
24multiple system atrophy10.3
25neuropathy10.3
26acardia10.3
27amyotonia congenita10.3
28cerebellar hypoplasia10.3
29cytoplasmic body myopathy10.3
30ataxia10.3
31progressive muscular atrophy10.1SMN1
32schimke immunoosseous dysplasia10.0SMN2, SMN1
33anterior horn cell disease10.0SMN1, VRK1
34juvenile spinal muscular atrophy10.0SMN1, SMN2, NAIP
35amyloid tumor10.0RPS27A, SYP
36neuromuscular disease10.0SMN1, SMN2, NAIP
37prion disease10.0CAT, SYP
38xeroderma pigmentosum10.0CAT, GTF2H2
39ischemia9.9MAP1B, CAT, NAIP
40alzheimer's disease9.9CAT, MAP1B, RPS27A, SYP, NAIP

Graphical network of the top 20 diseases related to Werdnig-Hoffmann Disease:



Diseases related to werdnig-hoffmann disease

Symptoms for Werdnig-Hoffmann Disease

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47OMIM
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Clinical features from OMIM:

253300

Drugs & Therapeutics for Werdnig-Hoffmann Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Werdnig-Hoffmann Disease

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Genetic Tests for Werdnig-Hoffmann Disease

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Anatomical Context for Werdnig-Hoffmann Disease

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33MalaCards
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MalaCards organs/tissues related to Werdnig-Hoffmann Disease:

33
Brain, Spinal cord, Lung, Thalamus

Animal Models for Werdnig-Hoffmann Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Werdnig-Hoffmann Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.1VRK1, CAT, MAP1B, NAIP, SCO2, SMN1

Publications for Werdnig-Hoffmann Disease

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52PubMed
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Articles related to Werdnig-Hoffmann Disease:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Total intravenous anesthesia (TIVA) in an infant with Werdnig-Hoffmann disease. Case report. (20863938)
2010
2
Total intravenous anesthesia (TIVA) in an infant with Werdnig-Hoffmann disease. Case report. (20485962)
2010
3
Parental role in the Intensive Care Unit for children affected by Werdnig Hoffmann disease. (20440234)
2010
4
Medical considerations of long-term survival of Werdnig-Hoffmann disease. (17449979)
2007
5
Long-term survival in Werdnig-Hoffmann disease. (17449977)
2007
6
Morphological and morphometrical study of human muscle spindles in Werdnig-Hoffmann disease (infantile spinal muscular atrophy type I). (16730053)
2006
7
Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis. (12646976)
2003
8
Werdnig-Hoffmann disease with congenital hypothyroidism. (14738578)
2003
9
Prenatal diagnosis of Werdnig-Hoffmann disease in China. (12875676)
2003
10
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. (12020273)
2002
11
Long-term ventilator support in patients with Werdnig-Hoffmann disease. (10986865)
2000
12
New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease. (10665977)
2000
13
Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease. (10888370)
2000
14
Werdnig-Hoffmann disease. The first prenatal diagnosis in Cuba]. (10652743)
1999
15
MR findings of Werdnig-Hoffmann disease in two infants. (9541317)
1998
16
A study of cell death in Werdnig Hoffmann disease brain. (9535127)
1998
17
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. (9818873)
1998
18
Aberrant glycosylation/phosphorylation in chromatolytic motoneurons of Werdnig-Hoffmann disease. (9415542)
1997
19
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. (8730281)
1996
20
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (7807154)
1994
21
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (8232401)
1993
22
Ubiquitin-positive inclusion in anterior horn cells in subgroups of motor neuron diseases: a comparative study of adult-onset amyotrophic lateral sclerosis, juvenile amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. (8387100)
1993
23
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. (1348092)
1992
24
Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family. (1641139)
1992
25
Microdissection study of the myenteric plexus in acardia, ataxia-telangiectasia, cystic fibrosis, extrahepatic biliary atresia, pediatric AIDS and Werdnig-Hoffmann disease. (1409139)
1992
26
Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease. (1851364)
1991
27
Brain atrophy in Werdnig-Hoffmann disease. (1776391)
1991
28
An unusual neurologic problem: Werdnig-Hoffmann disease. (2249464)
1990
29
Peripheral nerve involvement in Werdnig-Hoffmann disease. (2774090)
1989
30
Werdnig-Hoffmann disease in a Nigerian infant. (2595812)
1989
31
A hungarian study on Werdnig-Hoffmann disease. (2614795)
1989
32
Axial computerized tomography of the brain in cases of early infantile spinal muscular atrophy (Werdnig-Hoffmann disease). (3831621)
1985
33
Muscle fibre type differentiation and satellite cell population in Werdnig-Hoffmann disease. (3989581)
1985
34
A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots. (6880628)
1983
35
A case of congenital Werdnig-Hoffmann disease with glial bundles in spinal roots. (7073257)
1982
36
Preservation of the phrenic motoneurons in Werdnig-Hoffmann disease. (7271245)
1981
37
Werdnig-Hoffmann disease. (7397774)
1980
38
Animal model of human disease: Werdnig-Hoffmann disease (infantile spinal muscular atrophy). (7416238)
1980
39
Birth injury with unusual clinical features simulating Werdnig Hoffmann disease. (464929)
1979
40
Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association. (671487)
1978
41
Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease. (654890)
1978
42
Morphological differences between the atrophied small muscle fibres in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. (1274524)
1976
43
Cerebellar hypoplasia in Werdnig-Hoffmann disease. (1158057)
1975
44
Ultrastructural aspects of muscle and nerve in Werdnig-Hoffmann disease. (1155040)
1975
45
Spinal muscular atrophy: foetal-like histopathological pattern in Werdnig-Hoffmann disease. (4529631)
1974
46
Fetal movements and Werdnig-Hoffmann disease. (4699429)
1973
47
Werdnig-Hoffmann disease. (5173131)
1971
48
Ultrastructure of chromatolytic motoneurons and anterior spinal roots in a case of Werdnig-Hoffmann disease. (4105425)
1971
49
Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease). (5146579)
1971
50
Oxidative enzymes in spinal motor neurons in Werdnig-Hoffmann disease. A comparison with the axonal reaction. (5948648)
1966

Variations for Werdnig-Hoffmann Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Werdnig-Hoffmann Disease:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1IGHMBP2NM_002180.2(IGHMBP2): c.1540G> A (p.Glu514Lys)single nucleotide variantPathogenicrs137852665GRCh37Chr 11, 68701934: 68701934
2IGHMBP2NM_002180.2(IGHMBP2): c.638A> G (p.His213Arg)single nucleotide variantPathogenicrs137852666GRCh37Chr 11, 68678998: 68678998
3IGHMBP2NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile)single nucleotide variantPathogenicrs137852667GRCh37Chr 11, 68702872: 68702872
4IGHMBP2NM_002180.2(IGHMBP2): c.121C> T (p.Gln41Ter)single nucleotide variantPathogenicrs137852668GRCh37Chr 11, 68673571: 68673571
5IGHMBP2NM_002180.2(IGHMBP2): c.707T> G (p.Leu236Ter)single nucleotide variantPathogenicrs137852669GRCh37Chr 11, 68679067: 68679067
6IGHMBP2NM_002180.2(IGHMBP2): c.1107C> G (p.Phe369Leu)single nucleotide variantPathogenicrs137852670GRCh37Chr 11, 68696697: 68696697
7SMN1NM_000344.3(SMN1): c.815A> G (p.Tyr272Cys)single nucleotide variantPathogenicrs104893922GRCh37Chr 5, 70241984: 70241984
8SMN1NM_000344.3(SMN1): c.836G> T (p.Gly279Val)single nucleotide variantPathogenicrs76163360GRCh37Chr 5, 70247769: 70247769
9SMN1NM_000344.3(SMN1): c.332C> G (p.Ala111Gly)single nucleotide variantPathogenicrs104893935GRCh37Chr 5, 70238243: 70238243
10SMN1NM_000344.3(SMN1): c.346A> T (p.Ile116Phe)single nucleotide variantPathogenicrs104893933GRCh37Chr 5, 70238257: 70238257
11SMN1NM_000344.3(SMN1): c.406C> G (p.Gln136Glu)single nucleotide variantPathogenicrs104893934GRCh37Chr 5, 70238317: 70238317

Expression for genes affiliated with Werdnig-Hoffmann Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Werdnig-Hoffmann Disease

Search GEO for disease gene expression data for Werdnig-Hoffmann Disease.

Compounds for genes affiliated with Werdnig-Hoffmann Disease

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45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Werdnig-Hoffmann Disease according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1aclarubicin4510.1SMN2, SMN1
2phenylbutyrate4510.1SMN2, SMN1
3betamethasone45 1110.9SYP, MAP1B
4cysteamine45 24 1111.9RPS27A, CAT
5dicoumarol459.9CAT, RPS27A
6streptozotocin459.9SYP, RPS27A
7tbhq459.8CAT, RPS27A
8formate459.8RPS27A, CAT
9rotenone459.8CAT, RPS27A
10butyrate459.7RPS27A, SMN2, SMN1
11hematoxylin459.7SYP, RPS27A
126-hydroxydopamine459.6CAT, RPS27A
13lithium45 51 24 1112.6MAP1B, SYP
14silver459.6MAP1B, RPS27A, SYP
15formaldehyde45 2410.6CAT, RPS27A, SYP
16gaba459.5SYP, RPS27A, MAP1B
17nmda45 2910.5MAP1B, RPS27A, SYP
18glycogen45 2410.4SYP, RPS27A, MAP1B
19paraffin459.2MAP1B, RPS27A, SYP
20cisplatin45 51 61 1112.2NAIP, SYP, RPS27A, GTF2H2
21cysteine459.1CAT, RPS27A, SYP, NAIP
22superoxide45 2410.0CAT, SYP, SCO2

GO Terms for genes affiliated with Werdnig-Hoffmann Disease

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16Gene Ontology
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Cellular components related to Werdnig-Hoffmann Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.6GTF2H2, VRK1, RPS27A, SMN2

Biological processes related to Werdnig-Hoffmann Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic processGO:0430669.3CAT, RPS27A, NAIP

Products for genes affiliated with Werdnig-Hoffmann Disease

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Sources for Werdnig-Hoffmann Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet