AMC5
MCID: ART167
MIFTS: 21

Arthrogryposis Multiplex Congenita 5 (AMC5)

Categories: Genetic diseases

Aliases & Classifications for Arthrogryposis Multiplex Congenita 5

MalaCards integrated aliases for Arthrogryposis Multiplex Congenita 5:

Name: Arthrogryposis Multiplex Congenita 5 57 72 6
Amc5 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
early death (in some patients)
onset in utero


HPO:

31
arthrogryposis multiplex congenita 5:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis Multiplex Congenita 5

OMIM® : 57 Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017). (618947) (Updated 05-Apr-2021)

MalaCards based summary : Arthrogryposis Multiplex Congenita 5, is also known as amc5. An important gene associated with Arthrogryposis Multiplex Congenita 5 is TOR1A (Torsin Family 1 Member A). Related phenotypes are ptosis and short neck

UniProtKB/Swiss-Prot : 72 Arthrogryposis multiplex congenita 5: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor.

Related Diseases for Arthrogryposis Multiplex Congenita 5

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita 5

Human phenotypes related to Arthrogryposis Multiplex Congenita 5:

31 (show all 50)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 very rare (1%) HP:0000508
2 short neck 31 very rare (1%) HP:0000470
3 global developmental delay 31 very rare (1%) HP:0001263
4 inguinal hernia 31 very rare (1%) HP:0000023
5 macrotia 31 very rare (1%) HP:0000400
6 wide nasal bridge 31 very rare (1%) HP:0000431
7 umbilical hernia 31 very rare (1%) HP:0001537
8 microcephaly 31 very rare (1%) HP:0000252
9 anteverted nares 31 very rare (1%) HP:0000463
10 hypertonia 31 very rare (1%) HP:0001276
11 intellectual disability, severe 31 very rare (1%) HP:0010864
12 strabismus 31 very rare (1%) HP:0000486
13 absent speech 31 very rare (1%) HP:0001344
14 prominent occiput 31 very rare (1%) HP:0000269
15 intrauterine growth retardation 31 very rare (1%) HP:0001511
16 micrognathia 31 very rare (1%) HP:0000347
17 elbow flexion contracture 31 very rare (1%) HP:0002987
18 talipes equinovarus 31 very rare (1%) HP:0001762
19 kyphoscoliosis 31 very rare (1%) HP:0002751
20 neonatal respiratory distress 31 very rare (1%) HP:0002643
21 upslanted palpebral fissure 31 very rare (1%) HP:0000582
22 polyhydramnios 31 very rare (1%) HP:0001561
23 long philtrum 31 very rare (1%) HP:0000343
24 hip dislocation 31 very rare (1%) HP:0002827
25 intellectual disability, moderate 31 very rare (1%) HP:0002342
26 adducted thumb 31 very rare (1%) HP:0001181
27 decreased fetal movement 31 very rare (1%) HP:0001558
28 dystonia 31 very rare (1%) HP:0001332
29 round face 31 very rare (1%) HP:0000311
30 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
31 acanthocytosis 31 very rare (1%) HP:0001927
32 optic disc pallor 31 very rare (1%) HP:0000543
33 hammertoe 31 very rare (1%) HP:0001765
34 rocker bottom foot 31 very rare (1%) HP:0001838
35 hand clenching 31 very rare (1%) HP:0001188
36 gastrostomy tube feeding in infancy 31 very rare (1%) HP:0011471
37 generalized hypotonia 31 very rare (1%) HP:0001290
38 restrictive ventilatory defect 31 very rare (1%) HP:0002091
39 11 pairs of ribs 31 very rare (1%) HP:0000878
40 camptodactyly 31 very rare (1%) HP:0012385
41 akinesia 31 very rare (1%) HP:0002304
42 cardiac arrest 31 very rare (1%) HP:0001695
43 normocytic anemia 31 very rare (1%) HP:0001897
44 hand tremor 31 very rare (1%) HP:0002378
45 premature skin wrinkling 31 very rare (1%) HP:0100678
46 pes valgus 31 very rare (1%) HP:0008081
47 prominent nasolabial fold 31 very rare (1%) HP:0005272
48 prominent antihelix 31 very rare (1%) HP:0000395
49 limitation of knee mobility 31 very rare (1%) HP:0010501
50 medullary nephrocalcinosis 31 very rare (1%) HP:0012408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
poor overall growth

Head And Neck Eyes:
ptosis
upslanting palpebral fissures
strabismus (in most patients)
pale optic discs (1 patient)

Neurologic Central Nervous System:
global developmental delay
inability to walk
delayed motor development
tremor (in some patients)
poor or absent speech
more
Abdomen External Features:
umbilical hernia

Head And Neck Nose:
anteverted nares
broad nasal bridge

Head And Neck Ears:
low-set ears
posteriorly rotated ears
large ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
arthrogryposis multiplex congenita
contractures of large and small joints

Skeletal Feet:
pes valgus
hammertoes
rocker-bottom feet

Respiratory:
respiratory insufficiency (in some patients)

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Neck:
short neck
neck dystonia

Muscle Soft Tissue:
inguinal hernia
hypertonia
hypotonia

Head And Neck Head:
microcephaly
prominent occiput

Head And Neck Face:
retrognathia
micrognathia
long philtrum
round face
dysmorphic features, nonspecific (in some patients)

Head And Neck Mouth:
wide mouth

Skeletal Pelvis:
hip dislocation

Skeletal Hands:
camptodactyly
clenched fists

Abdomen Gastrointestinal:
poor feeding
tube feeding (in some patients)
oropharyngeal incoordination

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM®:

618947 (Updated 05-Apr-2021)

Drugs & Therapeutics for Arthrogryposis Multiplex Congenita 5

Search Clinical Trials , NIH Clinical Center for Arthrogryposis Multiplex Congenita 5

Genetic Tests for Arthrogryposis Multiplex Congenita 5

Anatomical Context for Arthrogryposis Multiplex Congenita 5

Publications for Arthrogryposis Multiplex Congenita 5

Articles related to Arthrogryposis Multiplex Congenita 5:

# Title Authors PMID Year
1
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping. 57 6
30244176 2019
2
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor. 6 57
29053766 2017
3
Biallelic TOR1A variants in an infant with severe arthrogryposis. 6 57
28516161 2017
4
A forward genetic screen identifies mutants deficient for mitochondrial complex I assembly in Chlamydomonas reinhardtii. 61
21467570 2011
5
Down-regulation of DNA topoisomerase IIalpha in human colorectal carcinoma cells resistant to a protoberberine alkaloid, berberrubine. 61
11901227 2002
6
New late gene, dar, involved in the replication of bacteriophage T4 DNA. III. DNA replicative intermediates of T4 dar and a gene 59 mutant suppressed by dar. 61
691106 1978
7
New late gene, dar, involved in the replication of bacteriophage T4 DNA. II. Overproduction of DNA binding protein (gene 32 protein) and further characterization. 61
211257 1978
8
Role of gene 59 of bacteriophage T4 in repair of UV-irradiated and alkylated DNA in vivo. 61
166207 1975
9
New Late Gene, dar, Involved in DNA Replication of Bacteriophage T4 I. Isolation, Characterization, and Genetic Location. 61
16789147 1975

Variations for Arthrogryposis Multiplex Congenita 5

ClinVar genetic disease variations for Arthrogryposis Multiplex Congenita 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TOR1A NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser) SNV Pathogenic 974679 GRCh37: 9:132576298-132576298
GRCh38: 9:129814019-129814019
2 TOR1A NM_000113.3(TOR1A):c.961del (p.Thr321fs) Deletion Pathogenic 974680 GRCh37: 9:132576289-132576289
GRCh38: 9:129814010-129814010
3 TOR1A NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) SNV Pathogenic 559927 rs760768475 GRCh37: 9:132576388-132576388
GRCh38: 9:129814109-129814109

Expression for Arthrogryposis Multiplex Congenita 5

Search GEO for disease gene expression data for Arthrogryposis Multiplex Congenita 5.

Pathways for Arthrogryposis Multiplex Congenita 5

GO Terms for Arthrogryposis Multiplex Congenita 5

Sources for Arthrogryposis Multiplex Congenita 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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