MCID: WRD002
MIFTS: 41

Werdnig-Hoffmann Disease malady

Neuronal diseases, Muscle diseases categories

Summaries for Werdnig-Hoffmann Disease

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46OMIM, 32MalaCards
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MalaCards: Werdnig-Hoffmann Disease, also known as hmn proximal type i, is related to muscular atrophy and spinal muscular atrophy. An important gene associated with Werdnig-Hoffmann Disease is SMN1 (survival of motor neuron 1, telomeric), and among its related pathways are RNA Polymerase I Chain Elongation and HIV Life Cycle. The compounds aclarubicin and phenylbutyrate have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and lung.

Description from OMIM:46 253300

Aliases & Classifications for Werdnig-Hoffmann Disease

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8Disease Ontology, 60UMLS, 56SNOMED-CT, 46OMIM, 27ICD9CM, 34MeSH
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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 60
neuronopathy, distal hereditary motor, type i 60
hereditary motor neuropathy proximal type i 8
progressive muscular atrophy of infancy 8
infantile muscular atrophy 8


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Disease Ontology8 DOID:13137
OMIM46 253300
ICD9CM27 335.0
MeSH34 D014897

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 top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy31.2GTF2H2, SMN2, SMN1, ZNF259, NAIP, MAP1B
2spinal muscular atrophy31.1NAIP, SMN2, SMN1, GTF2H2, MAP1B, SCO2
3motor neuron disease31.0NAIP, SMN2, SMN1, RPS27A
4amyotrophic lateral sclerosis30.9RPS27A, SMN2, SMN1, NAIP, SYP
5spinal muscular atrophy 130.9MAP1B, SYP, SCO2, NAIP, VRK1, ZNF259
6anterior horn cell disease30.6VRK1, SMN1
7spinal muscular atrophy type 230.4SMN2, NAIP, SMN1
8neuropathy30.3SMN1, SMN2
9neuromuscular disease30.3NAIP, SMN1, SMN2
10neuronitis10.8
11lateral sclerosis10.6
12neuronopathy, distal hereditary motor, type i10.6
13brain disease10.5
14distal hereditary motor neuropathy type 110.4
15movement disease10.4
16myopathy10.4
17spinal cord disease10.4
18neurologic diseases10.4
19spinal muscular atrophy with respiratory distress 110.3
20spinal muscular atrophy type 1 with congenital bone fractures10.3
21werdnig-hoffman disease10.3
22spinal muscular atrophy, x-linked 2, infantile10.3
23cystic fibrosis10.2
24biliary atresia10.2
25nemaline myopathy10.2
26congenital hypothyroidism10.2
27ataxia telangiectasia10.2
28adult spinal muscular atrophy10.2
29diabetes insipidus10.2
30sensory peripheral neuropathy10.2
31motor peripheral neuropathy10.2
32locked-in syndrome10.2
33cytochrome-c oxidase deficiency disease10.2
34nephrogenic diabetes insipidus10.2
35acute laryngitis10.2
36autosomal dominant disease10.2
37cerebellar disease10.2
38hypothyroidism10.2
39laryngeal disease10.2
40laryngitis10.2
41multiple system atrophy10.2
42peripheral neuropathy10.2
43peroxisomal disease10.2
44prostate cancer10.0RPS27A
45juvenile spinal muscular atrophy10.0NAIP, SMN1, SMN2
46neonatal adrenoleukodystrophy10.0PEX1, CAT
47cockayne syndrome10.0GTF2H2, GTF2H4
48peroxisome disorders10.0PEX1, CAT
49amyloid tumor10.0RPS27A, SYP
50infantile refsum disease10.0CAT, PEX1

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



Diseases related to werdnig-hoffmann disease

Clinical Features for Werdnig-Hoffmann Disease

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46OMIM
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Clinical features from OMIM:

253300

Drugs & Therapeutics for Werdnig-Hoffmann Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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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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Publications for Werdnig-Hoffmann Disease

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50PubMed
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Articles related to Werdnig-Hoffmann Disease:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Total intravenous anesthesia (TIVA) in an infant with Werdnig-Hoffmann disease. Case report. (20863938)
2010
2
Parental role in the Intensive Care Unit for children affected by Werdnig Hoffmann disease. (20440234)
2010
3
Medical considerations of long-term survival of Werdnig-Hoffmann disease. (17449979)
2007
4
Long-term survival in Werdnig-Hoffmann disease. (17449977)
2007
5
Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis. (12646976)
2003
6
Werdnig-Hoffmann disease with congenital hypothyroidism. (14738578)
2003
7
Prenatal diagnosis of Werdnig-Hoffmann disease in China. (12875676)
2003
8
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. (12020273)
2002
9
Long-term ventilator support in patients with Werdnig-Hoffmann disease. (10986865)
2000
10
Werdnig-Hoffmann disease. The first prenatal diagnosis in Cuba]. (10652743)
1999
11
Migrating atelectasis in Werdnig-Hoffmann disease: pulmonary manifestations in two cases of spinal muscular atrophy type 1. (10423316)
1999
12
A study of cell death in Werdnig Hoffmann disease brain. (9535127)
1998
13
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. (8981949)
1997
14
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. (8730281)
1996
15
Synaptophysin expression in the anterior horn of Werdnig-Hoffmann disease. (8815186)
1996
16
Synaptic alterations of anterior horn cells in Werdnig-Hoffmann disease. (8858698)
1996
17
Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers. (8052572)
1994
18
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (8232401)
1993
19
Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family. (1641139)
1992
20
Permanently locked-in syndrome in the neurologically impaired neonate: report of a case of Werdnig-Hoffmann disease. (1392039)
1992
21
Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease. (1851364)
1991
22
Brain atrophy in Werdnig-Hoffmann disease. (1776391)
1991
23
An unusual neurologic problem: Werdnig-Hoffmann disease. (2249464)
1990
24
Werdnig-Hoffmann disease: myosin isoform expression not arrested at prenatal stage of development. (2324769)
1990
25
Transient cytoplasmic bodies in muscle of three infants with Werdnig-Hoffmann disease. (2164661)
1990
26
Werdnig-Hoffmann disease in a Nigerian infant. (2595812)
1989
27
A hungarian study on Werdnig-Hoffmann disease. (2614795)
1989
28
Histochemistry and morphometry of Werdnig-Hoffmann disease. (2485193)
1989
29
Chromatolytic neurons in Werdnig-Hoffmann disease contain phosphorylated neurofilaments. (3149123)
1988
30
Muscle fibre type differentiation and satellite cell population in Werdnig-Hoffmann disease. (3989581)
1985
31
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? (3976363)
1985
32
Werdnig-Hoffmann disease on Reunion Island: a founder effect? (4017284)
1985
33
Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease. (7201252)
1982
34
Preservation of the phrenic motoneurons in Werdnig-Hoffmann disease. (7271245)
1981
35
Werdnig-Hoffmann disease. (7397774)
1980
36
Animal model of human disease: Werdnig-Hoffmann disease (infantile spinal muscular atrophy). (7416238)
1980
37
Glial bundles of nerve roots in Werdnig-Hoffmann disease. (7406450)
1980
38
Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease. (7436375)
1980
39
Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease. (654890)
1978
40
Spinal roots in Werdnig-Hoffmann disease. (636832)
1978
41
Morphometric study of motoneurons in congenital nemaline myopathy and Werdnig-Hoffmann disease. (570661)
1978
42
Werdnig-Hoffmann disease. The effects of intrauterine onset on lung growth. (747396)
1978
43
Morphological differences between the atrophied small muscle fibres in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. (1274524)
1976
44
Spinal muscular atrophy: foetal-like histopathological pattern in Werdnig-Hoffmann disease. (4529631)
1974
45
Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. (4809192)
1974
46
Fetal movements and Werdnig-Hoffmann disease. (4699429)
1973
47
Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease. (5774034)
1969
48
Neurogenic muscular atrophy of infancy with prolonged survival--the variable course of Werdnig-Hoffmann disease. (5711032)
1968
49
CEREBELLO-THALAMO-SPINAL DEGENERATION IN INFANCY: AN UNUSUAL VARIANT OF WERDNIG-HOFFMANN DISEASE. (14294750)
1965
50
Amyotonia congenita syndrome, with the report of a case of Werdnig-Hoffmann disease. (13977661)
1963

Genetic Variations for Werdnig-Hoffmann Disease

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Expression for genes affiliated with Werdnig-Hoffmann Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Werdnig-Hoffmann Disease

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Pathways for genes affiliated with Werdnig-Hoffmann Disease

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53Reactome
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Compounds for genes affiliated with Werdnig-Hoffmann Disease

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Werdnig-Hoffmann Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1aclarubicin4410.1SMN2, SMN1
2phenylbutyrate449.9SMN2, SMN1
3cysteamine44 11 2411.8RPS27A, CAT
4betamethasone44 1110.8SYP, MAP1B
5dicoumarol449.8RPS27A, CAT
6silver449.5MAP1B, SYP, RPS27A
7formaldehyde44 2410.2RPS27A, CAT, SYP
8cisplatin44 49 59 1112.1GTF2H2, NAIP, SYP, RPS27A

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
1core TFIIH complexGO:0004399.1GTF2H4, GTF2H2
2holo TFIIH complexGO:0056758.9GTF2H4, GTF2H2
3nucleoplasmGO:0056548.2SMN2, GTF2H4, GTF2H2, VRK1, RPS27A

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase I promoterGO:0063629.3GTF2H4, GTF2H2
2nucleotide-excision repair, DNA damage removalGO:0007189.3GTF2H4, GTF2H2
3termination of RNA polymerase I transcriptionGO:0063639.3GTF2H4, GTF2H2
4transcription initiation from RNA polymerase I promoterGO:0063619.2GTF2H2, GTF2H4
57-methylguanosine mRNA cappingGO:0063709.2GTF2H4, GTF2H2
6transcription from RNA polymerase I promoterGO:0063609.1GTF2H4, GTF2H2
7transcription initiation from RNA polymerase II promoterGO:0063678.6GTF2H4, GTF2H2, RPS27A

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

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:0080949.2GTF2H4, GTF2H2
2RNA polymerase II carboxy-terminal domain kinase activityGO:0083538.9GTF2H4, GTF2H2

Products for genes affiliated with Werdnig-Hoffmann Disease

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Sources for Werdnig-Hoffmann Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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