MCID: WRD002
MIFTS: 43

Werdnig-Hoffmann Disease malady

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

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MalaCards based summary: Werdnig-Hoffmann Disease, also known as progressive muscular atrophy of infancy, 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 is Regulation of Glucokinase by Glucokinase Regulatory Protein. 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:46 253300

Aliases & Classifications for Werdnig-Hoffmann Disease

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Werdnig-Hoffmann Disease, Aliases & Descriptions:

Name: Werdnig-Hoffmann Disease 8
Progressive Muscular Atrophy of Infancy 8 62
Hmn Proximal Type I 8 62
 
Neuronopathy, Distal Hereditary Motor, Type I 62
Hereditary Motor Neuropathy Proximal Type I 8
Infantile Muscular Atrophy 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:13137
ICD9CM27 335.0
OMIM46 253300
MeSH34 D014897

Related Diseases for Werdnig-Hoffmann Disease

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy31.6SMN2, SMN1
2muscular atrophy30.6IGHMBP2, SMN1, SMN2, NAIP, MAP1B, GTF2H2
3motor neuron disease30.3IGHMBP2, SMN1, SMN2, NAIP, RPS27A
4spinal muscular atrophy 129.8GTF2H2, SMN1, SMN2, VRK1, MAP1B, RPS27A
5neuronitis10.8
6amyotrophic lateral sclerosis10.7
7lateral sclerosis10.7
8myopathy10.4
9progressive muscular atrophy10.4SMN1
10spinal muscular atrophy with respiratory distress 110.3
11spinal muscular atrophy type 1 with congenital bone fractures10.3
12werdnig-hoffman disease10.3
13spinal muscular atrophy, x-linked 2, infantile10.3
14ataxia telangiectasia10.3
15cystic fibrosis10.3
16mannosidosis10.3
17multiple system atrophy10.3
18biliary atresia10.3
19diabetes insipidus10.3
20locked-in syndrome10.3
21congenital hypothyroidism10.3
22nephrogenic diabetes insipidus10.3
23nemaline myopathy10.3
24hypothyroidism10.3
25laryngitis10.3
26neuropathy10.3
27acardia10.3
28amyotonia congenita10.3
29cerebellar hypoplasia10.3
30cytoplasmic body myopathy10.3
31ataxia10.3
32schimke immunoosseous dysplasia10.2SMN1, SMN2
33anterior horn cell disease10.2VRK1, SMN1
34juvenile spinal muscular atrophy10.2SMN1, SMN2, NAIP
35amyloid tumor10.2RPS27A, SYP
36spinal muscular atrophy type 210.2SMN1, SMN2, NAIP
37neuromuscular disease10.1NAIP, SMN2, SMN1
38prion disease10.0CAT, SYP
39xeroderma pigmentosum9.8GTF2H2, CAT
40amyotrophic lateral sclerosis type 149.8SMN1, SMN2, NAIP, SYP, RPS27A
41ischemia9.7NAIP, MAP1B, CAT
42alzheimer's disease9.5NAIP, SYP, RPS27A, MAP1B, CAT

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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Clinical features from OMIM:

253300

Drugs & Therapeutics for Werdnig-Hoffmann Disease

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Drug clinical trials:

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Genetic Tests for Werdnig-Hoffmann Disease

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Anatomical Context for Werdnig-Hoffmann Disease

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MalaCards organs/tissues related to Werdnig-Hoffmann Disease:

32
Brain, Spinal cord, Lung, Thalamus

Animal Models for Werdnig-Hoffmann Disease or affiliated genes

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MGI Mouse Phenotypes related to Werdnig-Hoffmann Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.1VRK1, CAT, MAP1B, NAIP, SCO2, SMN1

Publications for Werdnig-Hoffmann Disease

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Articles related to Werdnig-Hoffmann Disease:

(show top 50)    (show all 99)
idTitleAuthorsYear
1
Blake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature. (25225621)
2014
2
Total intravenous anesthesia (TIVA) in an infant with Werdnig-Hoffmann disease. Case report. (20863938)
2010
3
Total intravenous anesthesia (TIVA) in an infant with Werdnig-Hoffmann disease. Case report. (20485962)
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
Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival. (12121035)
2002
12
Long-term ventilator support in patients with Werdnig-Hoffmann disease. (10986865)
2000
13
New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease. (10665977)
2000
14
Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease. (10888370)
2000
15
Werdnig-Hoffmann disease. The first prenatal diagnosis in Cuba]. (10652743)
1999
16
MR findings of Werdnig-Hoffmann disease in two infants. (9541317)
1998
17
A study of cell death in Werdnig Hoffmann disease brain. (9535127)
1998
18
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. (9818873)
1998
19
Aberrant glycosylation/phosphorylation in chromatolytic motoneurons of Werdnig-Hoffmann disease. (9415542)
1997
20
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. (8730281)
1996
21
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (7807154)
1994
22
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (8232401)
1993
23
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
24
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. (1348092)
1992
25
Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family. (1641139)
1992
26
Microdissection study of the myenteric plexus in acardia, ataxia-telangiectasia, cystic fibrosis, extrahepatic biliary atresia, pediatric AIDS and Werdnig-Hoffmann disease. (1409139)
1992
27
Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease. (1851364)
1991
28
Brain atrophy in Werdnig-Hoffmann disease. (1776391)
1991
29
An unusual neurologic problem: Werdnig-Hoffmann disease. (2249464)
1990
30
Peripheral nerve involvement in Werdnig-Hoffmann disease. (2774090)
1989
31
Werdnig-Hoffmann disease in a Nigerian infant. (2595812)
1989
32
A hungarian study on Werdnig-Hoffmann disease. (2614795)
1989
33
Axial computerized tomography of the brain in cases of early infantile spinal muscular atrophy (Werdnig-Hoffmann disease). (3831621)
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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Clinvar genetic disease variations for Werdnig-Hoffmann Disease:

6 (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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Expression patterns in normal tissues for genes affiliated with Werdnig-Hoffmann Disease

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Compounds for genes affiliated with Werdnig-Hoffmann Disease

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Compounds related to Werdnig-Hoffmann Disease according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1aclarubicin4410.1SMN2, SMN1
2phenylbutyrate4410.1SMN2, SMN1
3betamethasone44 1110.9SYP, MAP1B
4cysteamine44 24 1111.9RPS27A, CAT
5dicoumarol449.9CAT, RPS27A
6streptozotocin449.8SYP, RPS27A
7tbhq449.8CAT, RPS27A
8formate449.8CAT, RPS27A
9hematoxylin449.8RPS27A, SYP
10rotenone449.7CAT, RPS27A
11butyrate449.6SMN1, SMN2, RPS27A
126-hydroxydopamine449.6CAT, RPS27A
13silver449.6MAP1B, RPS27A, SYP
14formaldehyde44 2410.5CAT, RPS27A, SYP
15gaba449.5SYP, RPS27A, MAP1B
16nmda44 2810.4SYP, RPS27A, MAP1B
17glycogen44 2410.3SYP, RPS27A, MAP1B
18cisplatin44 50 61 1112.1NAIP, SYP, RPS27A, GTF2H2
19paraffin448.9MAP1B, RPS27A, SYP
20cysteine448.8NAIP, SYP, RPS27A, CAT

GO Terms for genes affiliated with Werdnig-Hoffmann Disease

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

idNameGO IDScoreTop Affiliating Genes
1SMN complexGO:0327979.5SMN2, IGHMBP2
2nucleoplasmGO:0056548.6GTF2H2, VRK1, RPS27A, SMN2

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

idNameGO IDScoreTop Affiliating Genes
1DNA repairGO:0062819.2GTF2H2, RPS27A, IGHMBP2
2translationGO:0064128.9GTF2H2, RPS27A, IGHMBP2

Molecular functions related to Werdnig-Hoffmann Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:0080949.6GTF2H2, IGHMBP2

Products for genes affiliated with Werdnig-Hoffmann Disease

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Sources for Werdnig-Hoffmann Disease

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3CDC
13ExPASy
14FMA
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
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40NDF-RT
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47OMIM via Orphanet
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52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet