MCID: PRN061
MIFTS: 10

Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Bone diseases, Muscle diseases

Aliases & Classifications for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

MalaCards integrated aliases for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures:

Name: Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 59
Smabf 59

Classifications:



External Ids:

Orphanet 59 ORPHA486811

Summaries for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

MalaCards based summary : Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures, also known as smabf, is related to congenital contractures and muscular atrophy. An important gene associated with Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include bone.

Related Diseases for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Diseases related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital contractures 9.3 ASCC1 TRIP4
2 muscular atrophy 9.2 ASCC1 TRIP4
3 spinal muscular atrophy 9.0 ASCC1 TRIP4

Symptoms & Phenotypes for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Drugs & Therapeutics for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Search Clinical Trials , NIH Clinical Center for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures

Genetic Tests for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Anatomical Context for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

MalaCards organs/tissues related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures:

41
Bone

Publications for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Variations for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Expression for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Search GEO for disease gene expression data for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures.

Pathways for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

GO Terms for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Cellular components related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 8.62 ASCC1 TRIP4

Sources for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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