MCID: WRD002
MIFTS: 39

Werdnig-Hoffmann Disease malady

Neuronal, Muscle categories

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 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:47 253300

Aliases & Classifications for Werdnig-Hoffmann Disease

Sources:
8Disease Ontology, 61UMLS, 57SNOMED-CT, 47OMIM, 27ICD9CM, 35MeSH
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Classifications:

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


Aliases & Descriptions:

werdnig-hoffmann disease 8
hmn proximal type i 8 61
neuronopathy, distal hereditary motor, type i 61
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
ICD9CM27 335.0
MeSH35 D014897

Related Diseases for Werdnig-Hoffmann Disease

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy31.2MAP1B, NAIP, ZNF259, GTF2H2, SMN1, SMN2
2spinal muscular atrophy31.2SMN2, SMN1, GTF2H2, NAIP, MAP1B, SCO2
3amyotrophic lateral sclerosis31.0RPS27A, SYP, NAIP, SMN1, SMN2
4spinal muscular atrophy 130.9SMN2, RPS27A, SCO2, SYP, MAP1B, NAIP
5anterior horn cell disease30.6SMN1, VRK1
6spinal muscular atrophy type 230.4NAIP, SMN1, SMN2
7werdnig-hoffman disease11.3
8lateral sclerosis10.7
9neuronopathy, distal hereditary motor, type i10.6
10brain disease10.5
11n syndrome10.4
12spinal cord disease10.4
13myopathy congenital10.4
14distal hereditary motor neuropathy type 110.4
15spinal muscular atrophy with respiratory distress 110.3
16spinal muscular atrophy type 1 with congenital bone fractures10.3
17spinal muscular atrophy, x-linked 2, infantile10.3
18cystic fibrosis10.3
19biliary atresia10.3
20nemaline myopathy10.3
21congenital hypothyroidism10.3
22ataxia telangiectasia10.3
23adult spinal muscular atrophy10.3
24diabetes insipidus10.3
25sensory peripheral neuropathy10.3
26motor peripheral neuropathy10.3
27cytochrome-c oxidase deficiency disease10.3
28nephrogenic diabetes insipidus10.3
29autosomal dominant disease10.3
30acardia10.3
31amyotonia congenita10.3
32biliary atresia extrahepatic10.3
33cerebellar hypoplasia10.3
34cytoplasmic body myopathy10.3
35ataxia10.3
36prostate cancer10.0RPS27A
37neuropathy10.0SMN2, SMN1
38juvenile spinal muscular atrophy10.0NAIP, SMN1, SMN2
39neuromuscular disease10.0NAIP, SMN1, SMN2
40neonatal adrenoleukodystrophy10.0CAT, PEX1
41cockayne syndrome10.0GTF2H4, GTF2H2
42peroxisome disorders10.0CAT, PEX1
43motor neuron disease10.0RPS27A, NAIP, SMN1, SMN2
44amyloid tumor10.0SYP, RPS27A
45infantile refsum disease10.0CAT, PEX1
46zellweger syndrome10.0PEX1, CAT
47xeroderma pigmentosum10.0GTF2H4, GTF2H2, CAT
48alzheimer's disease10.0NAIP, MAP1B, SYP, CAT, RPS27A

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



Diseases related to werdnig-hoffmann disease

Clinical Features for Werdnig-Hoffmann Disease

Sources:
47OMIM
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Clinical features from OMIM:

253300

Drugs & Therapeutics for Werdnig-Hoffmann Disease

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Werdnig-Hoffmann Disease

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

33
Brain, Spinal cord, Lung, Fetal brain, Thalamus, Fetal lung

Animal Models for Werdnig-Hoffmann Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Werdnig-Hoffmann Disease

Sources:
51PubMed
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Articles related to Werdnig-Hoffmann Disease:

(show top 50)    (show all 102)
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
Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo). (20162870)
2009
4
Long-term survival in Werdnig-Hoffmann disease. (17449977)
2007
5
Morphological and morphometrical study of human muscle spindles in Werdnig-Hoffmann disease (infantile spinal muscular atrophy type I). (16730053)
2006
6
Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis. (12646976)
2003
7
Werdnig-Hoffmann disease with congenital hypothyroidism. (14738578)
2003
8
Prenatal diagnosis of Werdnig-Hoffmann disease in China. (12875676)
2003
9
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. (12020273)
2002
10
Long-term ventilator support in patients with Werdnig-Hoffmann disease. (10986865)
2000
11
New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease. (10665977)
2000
12
A study of cell death in Werdnig Hoffmann disease brain. (9535127)
1998
13
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. (9818873)
1998
14
Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease. (9748047)
1998
15
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. (8981949)
1997
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
Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family. (1641139)
1992
19
Microdissection study of the myenteric plexus in acardia, ataxia-telangiectasia, cystic fibrosis, extrahepatic biliary atresia, pediatric AIDS and Werdnig-Hoffmann disease. (1409139)
1992
20
Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance. (1416812)
1992
21
Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease. (1851364)
1991
22
Werdnig-Hoffmann disease: myosin isoform expression not arrested at prenatal stage of development. (2324769)
1990
23
Transient cytoplasmic bodies in muscle of three infants with Werdnig-Hoffmann disease. (2164661)
1990
24
Werdnig-Hoffmann disease in a Nigerian infant. (2595812)
1989
25
Histochemistry and morphometry of Werdnig-Hoffmann disease. (2485193)
1989
26
"Chromatolytic" neurons in lateral geniculate body in Werdnig-Hoffmann disease. (3708955)
1986
27
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? (3976363)
1985
28
Werdnig-Hoffmann disease on Reunion Island: a founder effect? (4017284)
1985
29
Ultrastructural study of motoneurons in Werdnig-Hoffmann disease. (6518687)
1984
30
A case of congenital Werdnig-Hoffmann disease with glial bundles in spinal roots. (7073257)
1982
31
The pharyngo-laryngeal deficit in the acute form of infantile spinal muscular atrophy (Werdnig-Hoffmann disease). (7301447)
1981
32
Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association. (671487)
1978
33
Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease. (654890)
1978
34
Spinal roots in Werdnig-Hoffmann disease. (636832)
1978
35
Morphometric study of motoneurons in congenital nemaline myopathy and Werdnig-Hoffmann disease. (570661)
1978
36
Werdnig-Hoffmann disease. The effects of intrauterine onset on lung growth. (747396)
1978
37
Morphological differences between the atrophied small muscle fibres in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. (1274524)
1976
38
Peripheral motor and sensory neuropathy of early childhood, simulating Werdnig-Hoffmann disease. (183171)
1976
39
Some electrophysiological and immunological problems in Werdnig--Hoffmann disease. (1052639)
1976
40
Cerebellar hypoplasia in Werdnig-Hoffmann disease. (1158057)
1975
41
Spinal muscular atrophy: foetal-like histopathological pattern in Werdnig-Hoffmann disease. (4529631)
1974
42
Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. (4809192)
1974
43
Fetal movements and Werdnig-Hoffmann disease. (4699429)
1973
44
Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy. (4712772)
1973
45
Werdnig-Hoffmann disease. (5173131)
1971
46
Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease. (5774034)
1969
47
Oxidative enzymes in spinal motor neurons in Werdnig-Hoffmann disease. A comparison with the axonal reaction. (5948648)
1966
48
CEREBELLO-THALAMO-SPINAL DEGENERATION IN INFANCY: AN UNUSUAL VARIANT OF WERDNIG-HOFFMANN DISEASE. (14294750)
1965
49
Amyotonia congenita syndrome, with the report of a case of Werdnig-Hoffmann disease. (13977661)
1963
50
Two Cases of Amyotonia Congenita (Werdnig-Hoffmann's Disease). (19989564)
1933

Genetic Variations for Werdnig-Hoffmann Disease

Expression for genes affiliated with Werdnig-Hoffmann Disease

Sources:
1BioGPS, 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.

Pathways for genes affiliated with Werdnig-Hoffmann Disease

Sources:
54Reactome
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Compounds for genes affiliated with Werdnig-Hoffmann Disease

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Werdnig-Hoffmann Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1aclarubicin4510.1SMN2, SMN1
2phenylbutyrate459.9SMN2, SMN1
3cysteamine45 11 2411.8RPS27A, CAT
4betamethasone45 1110.8SYP, MAP1B
5dicoumarol459.8RPS27A, CAT
6silver459.5MAP1B, SYP, RPS27A
7formaldehyde45 2410.2RPS27A, CAT, SYP
8cisplatin45 50 60 1112.1GTF2H2, NAIP, SYP, RPS27A

GO Terms for genes affiliated with Werdnig-Hoffmann Disease

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet