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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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. (20485962)
2010
2
Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo). (20162870)
2009
3
Morphological and morphometrical study of human muscle spindles in Werdnig-Hoffmann disease (infantile spinal muscular atrophy type I). (16730053)
2006
4
Prenatal diagnosis of Werdnig-Hoffmann disease in China. (12875676)
2003
5
Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival. (12121035)
2002
6
Long-term ventilator support in patients with Werdnig-Hoffmann disease. (10986865)
2000
7
New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease. (10665977)
2000
8
Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease. (10888370)
2000
9
MR findings of Werdnig-Hoffmann disease in two infants. (9541317)
1998
10
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. (9818873)
1998
11
Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease. (9748047)
1998
12
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (7807154)
1994
13
Controversy over Werdnig-Hoffmann disease and multiple system atrophy. (8293160)
1993
14
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. (1348092)
1992
15
Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family. (1641139)
1992
16
Microdissection study of the myenteric plexus in acardia, ataxia-telangiectasia, cystic fibrosis, extrahepatic biliary atresia, pediatric AIDS and Werdnig-Hoffmann disease. (1409139)
1992
17
Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance. (1416812)
1992
18
Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease. (1851364)
1991
19
Proximal and distal motor nerve conduction velocities in Werdnig-Hoffmann disease. (2340034)
1990
20
Peripheral nerve involvement in Werdnig-Hoffmann disease. (2774090)
1989
21
Werdnig-Hoffmann disease in a Nigerian infant. (2595812)
1989
22
The effect of peripheral nerve injury on immature motor and sensory neurons and on muscle fibres. Possible relation to the histogenesis of Werdnig-Hoffmann disease. (3231961)
1988
23
"Chromatolytic" neurons in lateral geniculate body in Werdnig-Hoffmann disease. (3708955)
1986
24
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? (3976363)
1985
25
Ultrastructural study of motoneurons in Werdnig-Hoffmann disease. (6518687)
1984
26
Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island. (6467653)
1984
27
Intracytoplasmic inclusions in the atrophic muscle fibers in Werdnig-Hoffmann disease. (6311038)
1983
28
A case of congenital Werdnig-Hoffmann disease with glial bundles in spinal roots. (7073257)
1982
29
Involvement of the Onuf nucleus in Werdnig-Hoffmann disease. (7201584)
1982
30
The pharyngo-laryngeal deficit in the acute form of infantile spinal muscular atrophy (Werdnig-Hoffmann disease). (7301447)
1981
31
Spinal autonomic neurons in Werdnig-Hoffmann disease, mannosidosis, and Hurler's syndrome: distribution of autonomic neurons in the sacral spinal cord. (6783738)
1980
32
Birth injury with unusual clinical features simulating Werdnig Hoffmann disease. (464929)
1979
33
Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association. (671487)
1978
34
Spinal roots in Werdnig-Hoffmann disease. (636832)
1978
35
Werdnig-Hoffmann disease: proposal of a pathogenetic mechanism. (636837)
1978
36
High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel. (912942)
1977
37
Peripheral motor and sensory neuropathy of early childhood, simulating Werdnig-Hoffmann disease. (183171)
1976
38
Some electrophysiological and immunological problems in Werdnig--Hoffmann disease. (1052639)
1976
39
Cerebellar hypoplasia in Werdnig-Hoffmann disease. (1158057)
1975
40
Ultrastructural aspects of muscle and nerve in Werdnig-Hoffmann disease. (1155040)
1975
41
Fetal movements and Werdnig-Hoffmann disease. (4699429)
1973
42
Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy. (4712772)
1973
43
The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. (4774536)
1973
44
Werdnig-Hoffmann disease. (5173131)
1971
45
Ultrastructure of chromatolytic motoneurons and anterior spinal roots in a case of Werdnig-Hoffmann disease. (4105425)
1971
46
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
47
Ultrastructure of chromatolytic motoneurons in a case of Werdnig-Hoffmann disease. (4104901)
1970
48
Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease. (5774034)
1969
49
Ultrastructure of muscle in Werdnig-Hoffmann disease. (5805762)
1969
50
Oxidative enzymes in spinal motor neurons in Werdnig-Hoffmann disease. A comparison with the axonal reaction. (5948648)
1966

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
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet