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. (20485962)
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
Werdnig-Hoffmann disease with congenital hypothyroidism. (14738578)
2003
5
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. (12020273)
2002
6
Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival. (12121035)
2002
7
Werdnig-Hoffmann disease. The first prenatal diagnosis in Cuba]. (10652743)
1999
8
Migrating atelectasis in Werdnig-Hoffmann disease: pulmonary manifestations in two cases of spinal muscular atrophy type 1. (10423316)
1999
9
MR findings of Werdnig-Hoffmann disease in two infants. (9541317)
1998
10
Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease. (9748045)
1998
11
Aberrant glycosylation/phosphorylation in chromatolytic motoneurons of Werdnig-Hoffmann disease. (9415542)
1997
12
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. (8730281)
1996
13
Synaptophysin expression in the anterior horn of Werdnig-Hoffmann disease. (8815186)
1996
14
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (7807154)
1994
15
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (8232401)
1993
16
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
17
Controversy over Werdnig-Hoffmann disease and multiple system atrophy. (8293160)
1993
18
Epidemiological data on Werdnig-Hoffmann disease in Germany (West-ThA1ringen). (8478016)
1993
19
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (8515770)
1993
20
Permanently locked-in syndrome in the neurologically impaired neonate: report of a case of Werdnig-Hoffmann disease. (1392039)
1992
21
Brain atrophy in Werdnig-Hoffmann disease. (1776391)
1991
22
An unusual neurologic problem: Werdnig-Hoffmann disease. (2249464)
1990
23
Proximal and distal motor nerve conduction velocities in Werdnig-Hoffmann disease. (2340034)
1990
24
Transient cytoplasmic bodies in muscle of three infants with Werdnig-Hoffmann disease. (2164661)
1990
25
Ubiquitin and phosphorylated neurofilament epitopes in ballooned neurons of the extraocular muscle nuclei in a case of Werdnig-Hoffmann disease. (1698008)
1990
26
Peripheral nerve involvement in Werdnig-Hoffmann disease. (2774090)
1989
27
A hungarian study on Werdnig-Hoffmann disease. (2614795)
1989
28
Chromatolytic neurons in Werdnig-Hoffmann disease contain phosphorylated neurofilaments. (3149123)
1988
29
Axial computerized tomography of the brain in cases of early infantile spinal muscular atrophy (Werdnig-Hoffmann disease). (3831621)
1985
30
Muscle fibre type differentiation and satellite cell population in Werdnig-Hoffmann disease. (3989581)
1985
31
Werdnig-Hoffmann disease on Reunion Island: a founder effect? (4017284)
1985
32
Astrocytic proteins in the dorsal and ventral roots in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. (6502190)
1984
33
A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots. (6880628)
1983
34
Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease. (7201252)
1982
35
Involvement of the Onuf nucleus in Werdnig-Hoffmann disease. (7201584)
1982
36
Preservation of the phrenic motoneurons in Werdnig-Hoffmann disease. (7271245)
1981
37
Vitamin E deficiency in Werdnig-Hoffmann disease. (7294734)
1981
38
Werdnig-Hoffmann disease. (7397774)
1980
39
Animal model of human disease: Werdnig-Hoffmann disease (infantile spinal muscular atrophy). (7416238)
1980
40
Glial bundles of nerve roots in Werdnig-Hoffmann disease. (7406450)
1980
41
Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease. (7436375)
1980
42
Birth injury with unusual clinical features simulating Werdnig Hoffmann disease. (464929)
1979
43
Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease. (654890)
1978
44
Werdnig-Hoffmann disease: proposal of a pathogenetic mechanism. (636837)
1978
45
Ultrastructural aspects of muscle and nerve in Werdnig-Hoffmann disease. (1155040)
1975
46
The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. (4774536)
1973
47
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
48
Ultrastructure of muscle in Werdnig-Hoffmann disease. (5805762)
1969
49
Neurogenic muscular atrophy of infancy with prolonged survival--the variable course of Werdnig-Hoffmann disease. (5711032)
1968
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
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet