MCID: WRD018
MIFTS: 13

Werdnig-Hoffman Disease malady

Summaries for Werdnig-Hoffman Disease

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45NINDS, 34MalaCards
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NINDS:45 Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.

MalaCards: Werdnig-Hoffman Disease, also known as hmn proximal type i, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Werdnig-Hoffman Disease is SMN1 (survival of motor neuron 1, telomeric). Affiliated tissues include spinal cord.

Aliases & Classifications for Werdnig-Hoffman Disease

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63UMLS, 45NINDS
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Aliases & Descriptions:

werdnig-hoffman disease 45
hmn proximal type i 63


Related Diseases for Werdnig-Hoffman Disease

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18GeneCards, 19GeneDecks
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Diseases related to Werdnig-Hoffman Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy10.6
2muscular atrophy10.5
3spinal muscular atrophy 110.5
4neuronitis10.3
5juvenile spinal muscular atrophy10.3

Graphical network of diseases related to Werdnig-Hoffman Disease:



Diseases related to werdnig-hoffman disease

Symptoms for Werdnig-Hoffman Disease

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Drugs & Therapeutics for Werdnig-Hoffman Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Werdnig-Hoffman Disease

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Anatomical Context for Werdnig-Hoffman Disease

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34MalaCards
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MalaCards organs/tissues related to Werdnig-Hoffman Disease:

34
Spinal cord

Animal Models for Werdnig-Hoffman Disease or affiliated genes

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Publications for Werdnig-Hoffman Disease

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53PubMed
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Articles related to Werdnig-Hoffman Disease:

(show all 11)
idTitleAuthorsYear
1
Pictorial essay of Werdnig-Hoffman disease. (19322128)
2009
2
Type I spinal atrophy (Werdnig-Hoffman disease). Case report]. (17511908)
2007
3
Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation. (15346918)
2004
4
Urodynamics in a patient with Werdnig-Hoffman disease. (11178590)
1999
5
Oral-facial-digital syndrome (OFDS) type I in a patient with Werdnig-Hoffman disease. (9522240)
1998
6
Pathological cases of the month. Type 1 spinal muscular atrophy (Werdnig-Hoffman disease). (8352229)
1993
7
Imaging case of the month: Werdnig-Hoffman disease. (3606762)
1987
8
Acute gastric volvulus following Harrington rod instrumentation in a patient with Werdnig-Hoffman disease. (7302686)
1981
9
Case study - Werdnig Hoffman disease. Master G.B.: the story of a remarkable child, his family, and community. (6934438)
1980
10
Animal model of human disease. Infantile spinal muscular atrophy, Werdnig-Hoffman disease. Animal model: Hereditary neuronal abiotrophy in Swedish Lapland dogs. (1258980)
1976
11
Chronic generalized spinal muscular atrophy of infancy and childhood. Arrested Werdnig-Hoffman disease. (4749680)
1973

Variations for Werdnig-Hoffman Disease

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Expression for genes affiliated with Werdnig-Hoffman Disease

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Werdnig-Hoffman Disease

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Pathways for genes affiliated with Werdnig-Hoffman Disease

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Compounds for genes affiliated with Werdnig-Hoffman Disease

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GO Terms for genes affiliated with Werdnig-Hoffman Disease

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Products for genes affiliated with Werdnig-Hoffman Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Werdnig-Hoffman Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet