MCID: MLG089
MIFTS: 4

Malignant Hyperthermia Arthrogryposis Torticollis

Categories: Rare diseases

Aliases & Classifications for Malignant Hyperthermia Arthrogryposis Torticollis

MalaCards integrated aliases for Malignant Hyperthermia Arthrogryposis Torticollis:

Name: Malignant Hyperthermia Arthrogryposis Torticollis 52
Malignant Hyperthermia - Arthrogryposis - Torticollis 52
Froster-Iskenius-Waterson Syndrome 52

Classifications:



Summaries for Malignant Hyperthermia Arthrogryposis Torticollis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2215 Definition An extremely rare arthrogryposis syndrome , described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis , posteriorly rotated ears, cleft palate ), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Visit the Orphanet disease page for more resources.

MalaCards based summary : Malignant Hyperthermia Arthrogryposis Torticollis, also known as malignant hyperthermia - arthrogryposis - torticollis, is related to contractures, congenital, torticollis, and malignant hyperthermia.

Related Diseases for Malignant Hyperthermia Arthrogryposis Torticollis

Diseases related to Malignant Hyperthermia Arthrogryposis Torticollis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 contractures, congenital, torticollis, and malignant hyperthermia 11.7

Symptoms & Phenotypes for Malignant Hyperthermia Arthrogryposis Torticollis

Drugs & Therapeutics for Malignant Hyperthermia Arthrogryposis Torticollis

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia Arthrogryposis Torticollis

Genetic Tests for Malignant Hyperthermia Arthrogryposis Torticollis

Anatomical Context for Malignant Hyperthermia Arthrogryposis Torticollis

Publications for Malignant Hyperthermia Arthrogryposis Torticollis

Variations for Malignant Hyperthermia Arthrogryposis Torticollis

Expression for Malignant Hyperthermia Arthrogryposis Torticollis

Search GEO for disease gene expression data for Malignant Hyperthermia Arthrogryposis Torticollis.

Pathways for Malignant Hyperthermia Arthrogryposis Torticollis

GO Terms for Malignant Hyperthermia Arthrogryposis Torticollis

Sources for Malignant Hyperthermia Arthrogryposis Torticollis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....