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MCID: CNT104
MIFTS: 20

Contractures, Congenital, Torticollis, and Malignant Hyperthermia

Categories: Fetal diseases, Neuronal diseases, Rare diseases
Tissues Symptoms & Phenotypes
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Aliases & Classifications for Contractures, Congenital, Torticollis, and Malignant...

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MalaCards integrated aliases for Contractures, Congenital, Torticollis, and Malignant Hyperthermia:

Name: Contractures, Congenital, Torticollis, and Malignant Hyperthermia 58
Malignant Hyperthermia-Arthrogryposis-Torticollis Syndrome 60
Multiple Pterygium-Malignant Hyperthermia Syndrome 60
Froster-Iskenius-Waterson-Hall Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
multiple pterygium-malignant hyperthermia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
contractures, congenital, torticollis, and malignant hyperthermia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 60  
Rare neurological diseases
Developmental anomalies during embryogenesis


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Summaries for Contractures, Congenital, Torticollis, and Malignant...

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MalaCards based summary : Contractures, Congenital, Torticollis, and Malignant Hyperthermia, is also known as malignant hyperthermia-arthrogryposis-torticollis syndrome. Affiliated tissues include bone and skeletal muscle, and related phenotypes are scoliosis and skeletal muscle atrophy

Description from OMIM: 217150
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Related Diseases for Contractures, Congenital, Torticollis, and Malignant...

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Symptoms & Phenotypes for Contractures, Congenital, Torticollis, and Malignant...

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Human phenotypes related to Contractures, Congenital, Torticollis, and Malignant Hyperthermia:

60 33 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
2 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
3 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
4 metatarsus adductus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001840
5 webbed neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000465
6 mask-like facies 60 33 hallmark (90%) Very frequent (99-80%) HP:0000298
7 arthrogryposis multiplex congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0002804
8 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
9 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
10 facial asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0000324
11 ulnar deviation of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009465
12 plagiocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001357
13 tapered finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0001182
14 prominent metopic ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005487
15 congenital muscular torticollis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005988
16 posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000358
17 abnormality of the mandible 60 33 hallmark (90%) Very frequent (99-80%) HP:0000277
18 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
19 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
20 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
21 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
22 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
23 malignant hyperthermia 60 33 frequent (33%) Frequent (79-30%) HP:0002047
24 prominent nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000426
25 arachnodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001166
26 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
27 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
28 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
29 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
30 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
31 severe short stature 60 33 frequent (33%) Frequent (79-30%) HP:0003510
32 hypotelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000601
33 scrotal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000046
34 abnormal lactate dehydrogenase activity 60 33 frequent (33%) Frequent (79-30%) HP:0045040
35 amniotic constriction ring 60 33 frequent (33%) Frequent (79-30%) HP:0009775
36 abnormal aldolase level 60 33 frequent (33%) Frequent (79-30%) HP:0012400
37 long palm 60 33 frequent (33%) Frequent (79-30%) HP:0011302
38 prominence of the zygomatic bone 60 33 frequent (33%) Frequent (79-30%) HP:0012370
39 abnormal circulating creatine kinase concentration 33 frequent (33%) HP:0040081
40 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
41 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
42 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
43 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
44 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
45 full cheeks 60 33 occasional (7.5%) Occasional (29-5%) HP:0000293
46 broad alveolar ridges 60 33 occasional (7.5%) Occasional (29-5%) HP:0000187
47 dolichocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000268
48 hyperconvex fingernails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001812
49 polyhydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001561
50 abnormality of the ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000772

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
cleft palate
natal teeth

Mandible:
restricted motion

Limbs:
arthrogryposis
axillary webbing

Metabolic:
malignant hyperthermia with anesthesia

Clinical features from OMIM:

217150
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Drugs & Therapeutics for Contractures, Congenital, Torticollis, and Malignant...

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Search Clinical Trials , NIH Clinical Center for Contractures, Congenital, Torticollis, and Malignant Hyperthermia

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Genetic Tests for Contractures, Congenital, Torticollis, and Malignant...

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Anatomical Context for Contractures, Congenital, Torticollis, and Malignant...

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MalaCards organs/tissues related to Contractures, Congenital, Torticollis, and Malignant Hyperthermia:

42
Bone, Skeletal Muscle
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Publications for Contractures, Congenital, Torticollis, and Malignant...

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Variations for Contractures, Congenital, Torticollis, and Malignant...

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Expression for Contractures, Congenital, Torticollis, and Malignant...

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Search GEO for disease gene expression data for Contractures, Congenital, Torticollis, and Malignant Hyperthermia.
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Pathways for Contractures, Congenital, Torticollis, and Malignant...

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GO Terms for Contractures, Congenital, Torticollis, and Malignant...

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Sources for Contractures, Congenital, Torticollis, and Malignant...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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