review spinal muscular atrophy, xrefs, subtypes

[lschriml]

Email request from Amos Bairoch:

Comment for term: DOID:0060160 (survival motor neuron spinal muscular atrophy)

Delete the following NCIt mappings: NCI:C118847 NCI:C156310 NCI:C98670

only the following mapping is correct: NCI:C85076

=======================================

Reviewing terms and xrefs: The cross references are now fixed, I checked the subtypes and their cross references.

spinal muscular atrophy [DOID:12377]

survival motor neuron spinal muscular atrophy (SMA) [DOID:0060160] and subtypes: [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy]

1st step: merge survival motor neuron spinal muscular atrophy into spinal muscular atrophy.

[1]. --> DO is missing congenital SMA 0 spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition.

      Synonym: Very severe spinal muscular atrophy
      Ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255980/
  SMA Type 0 cases reported by MacLeod and her team, centromeric SMN gene was present but in reduced copy number compared with a control group of children with the less severe Type 1 SMA.[PMID: 10700538]

  [PMID: 10700538]
  Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype.

[2]. Werdnig-Hoffman disease (SMA1) [DOID:13137] Type I (severe), age of onset: 0-6 months, never sits

[GHR]: 
 Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) 
    is the most common form of the condition. 
     It is a severe form of the disorder with muscle weakness evident at 
      birth or within the first few months of life. 

   [https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541]
      type I, all of whom presented with reduced fetal movements in utero, 
        severe weakness at birth, and short survival time 

   [PMID: 10700538]
  Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype.
    -It usually presents at birth or within the first few months of life. There is general hypotonia, with axial and limb weakness

          - fatal in infancy [MESH]
 -->    ICD10CM:G12.0
 -->    ICD9CM:335.0

 -->   MESH:D014897 Spinal Muscular Atrophies of Childhood
            [includes types I, II and III)
                skos: Broad 

-->    NCI:C85076 Spinal Muscular Atrophy of Childhood [skos: Broad]
-->    NCI:C98670. Werdnig-Hoffmann Disease
-->    UMLS_CUI:C0043116.   Werdnig-Hoffmann Disease     

 --> OMIM: 253300. spinal muscular atrophy type I 
--> GARD:7883
        Orphanet:  Orpha:70       skos: Broad    Proximal spinal muscular atrophies
         [combines multiple subtypes into one term]
             (OMIM: 253300  253400  253550  271150)

[3]. intermediate SMA (SMA2). [DOID:0050530] Type II (intermediate), age of onset 7-18 months, sits but never stands

 [GHR]: Spinal muscular atrophy type II (also called Dubowitz disease) 
  -- is characterized by muscle weakness that develops in children 
      between ages 6 and 12 months.

-- late infantile onset, associated with survival into the second or third decade [MESH]

   -->   MESH:D014897 Spinal Muscular Atrophies of Childhood
            [includes types I, II and III)
                  skos: Broad 

     --> NCI:C156310
             Spinal Muscular Atrophy Type 2 (Code C156310)
    -->   NCI:C85076 Spinal Muscular Atrophy of Childhood [skos: Broad]
            UMLS_CUI:C0700595 [skos: Broad] Spinal Muscular Atrophy of Childhood 
    -->  UMLS_CUI:C0393538    Spinal Muscular Atrophy Type 2
    --> OMIM:253550 spinal muscular atrophy type I

[4]. juvenile SMA (SMA3). [DOID:12376] Type III (mild) , age of onset > 18 months, stands and walks

 [GHR]: Spinal muscular atrophy type III (also called Kugelberg-Welander disease)
    -- typically causes muscle weakness after early childhood.

    ->  ICD9CM:335.11
       - Type III has its onset in childhood, and is slowly progressive [MESH]
    ->   MESH:D014897 Spinal Muscular Atrophies of Childhood
            [includes types I, II and III)
        skos: Broad 

     ->  NCI:C85076 Spinal Muscular Atrophy of Childhood [skos: Broad]
     ->  NCI:C118847.   Spinal Muscular Atrophy Type 3 
     --> UMLS_CUI:C0152109  Spinal Muscular Atrophy Type 3 
     --> OMIM:253400   spinal muscular atrophy type III

[5]. adult SMA. (SMA4). [DOID:0050529] Type 4 (adult), age of onset 10-30 years, stands and walks

    [GHR]: Spinal muscular atrophy type IV
   -- is rare and often begins in early adulthood.
   --> OMIM:271150
   --> Orphanet: 83420.  Proximal spinal muscular atrophy type 4

     ICD10CM: G12.1 (Other inherited spinal muscular atrophy)
         [skos: Broad] Group includes Type II, III, Adult form]

   --> UMLS: C1838230
   --> OMIM:271150      spinal muscular atrophy type IV

[lschriml]

Going to keep: survival motor neuron spinal muscular atrophy (SMA) [DOID:0060160] -- rename to : childhood spinal muscular atrophy with child terms: type 0, I, II and III.

[lschriml]

All updates have been added to the DO file.

Cheers, Lynn