AMC1
MCID: ART164
MIFTS: 24

Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect (AMC1)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

MalaCards integrated aliases for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect:

Name: Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect 57
Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 57 72 36 29 6
Amcnmy 57 72
Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect; Amcnmy 57
Amc1 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in utero
most patients die in utero or in the neonatal period


HPO:

31
arthrogryposis multiplex congenita 1, neurogenic, with myelin defect:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

OMIM® : 57 AMC1 is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017). (617468) (Updated 05-Apr-2021)

MalaCards based summary : Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect, is also known as arthrogryposis multiplex congenita, neurogenic, with myelin defect. An important gene associated with Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect is LGI4 (Leucine Rich Repeat LGI Family Member 4). Related phenotypes are pulmonary hypoplasia and seizure

KEGG : 36 Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. The phenotypic spectrum of LGI4-related AMC varies from a most severe form with intrauterine onset resulting in utero death or termination to neonatal death to milder form with distal arthrogryposis, areflexia, developmental delay, and other variable features.

UniProtKB/Swiss-Prot : 72 Arthrogryposis multiplex congenita, neurogenic, with myelin defect: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMCNMY is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.

Related Diseases for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

Human phenotypes related to Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 pulmonary hypoplasia 31 occasional (7.5%) HP:0002089
2 seizure 31 occasional (7.5%) HP:0001250
3 ptosis 31 HP:0000508
4 high palate 31 HP:0000218
5 retrognathia 31 HP:0000278
6 micrognathia 31 HP:0000347
7 elbow flexion contracture 31 HP:0002987
8 scapular winging 31 HP:0003691
9 talipes equinovarus 31 HP:0001762
10 fetal akinesia sequence 31 HP:0001989
11 dental crowding 31 HP:0000678
12 protruding ear 31 HP:0000411
13 areflexia 31 HP:0001284
14 arthrogryposis multiplex congenita 31 HP:0002804
15 hip contracture 31 HP:0003273
16 poor head control 31 HP:0002421
17 ankle flexion contracture 31 HP:0006466
18 knee flexion contracture 31 HP:0006380
19 generalized hypotonia 31 HP:0001290
20 camptodactyly 31 HP:0012385
21 esotropia 31 HP:0000565
22 narrow forehead 31 HP:0000341
23 distal arthrogryposis 31 HP:0005684
24 internally rotated shoulders 31 HP:0006659

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
strabismus
esotropia

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging
internally rotated shoulders

Neurologic Peripheral Nervous System:
areflexia
absence of myelin on peripheral nerves

Head And Neck Head:
poor head control

Muscle Soft Tissue:
hypotonia
decreased muscle bulk

Skeletal Limbs:
knee contractures
wrist contractures
elbow contractures
ankle contractures
elbow hyperextension

Skeletal Feet:
club feet
flexion of feet

Prenatal Manifestations Movement:
decreased fetal movements
fetal akinesia

Respiratory Lung:
pulmonary hypoplasia (in some patients)

Head And Neck Face:
retrognathia
micrognathia
narrow forehead

Head And Neck Teeth:
dental crowding

Skeletal:
arthrogryposis multiplex congenita
distal arthrogryposis
contractures

Skeletal Hands:
camptodactyly
flexion of hands

Head And Neck Mouth:
high-arched palate
reduced mouth opening

Head And Neck Ears:
prominent ears

Skeletal Pelvis:
hip contractures

Neurologic Central Nervous System:
seizures (1 patient)
delayed verbal development (1 patient)

Clinical features from OMIM®:

617468 (Updated 05-Apr-2021)

Drugs & Therapeutics for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

Search Clinical Trials , NIH Clinical Center for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect

Genetic Tests for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

Genetic tests related to Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect:

# Genetic test Affiliating Genes
1 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 29 LGI4

Anatomical Context for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

Publications for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

Articles related to Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect:

# Title Authors PMID Year
1
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. 57 6
28318499 2017
2
Assembly of Mitochondrial Complex I Requires the Low-Complexity Protein AMC1 in Chlamydomonas reinhardtii. 61
32075865 2020
3
Gait dynamics in the wide spectrum of children with arthrogryposis: a descriptive study. 61
26821804 2015
4
Walking, orthoses and physical effort in a Swedish population with arthrogryposis. 61
24907777 2014
5
A forward genetic screen identifies mutants deficient for mitochondrial complex I assembly in Chlamydomonas reinhardtii. 61
21467570 2011
6
Chronic respiratory failure in a patient with type I Arnold-Chiari malformation (ACM1) and syringomyelia. 61
9689798 1998
7
A direct selection procedure for isolating yeast mutants with an impaired segregation of artificial minichromosomes. 61
2663183 1989

Variations for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

ClinVar genetic disease variations for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LGI4 NM_139284.3(LGI4):c.793+5G>C SNV Pathogenic 424867 rs1064797093 GRCh37: 19:35617752-35617752
GRCh38: 19:35126848-35126848
2 LGI4 NM_139284.3(LGI4):c.773G>C (p.Arg258Pro) SNV Pathogenic 424870 rs755500591 GRCh37: 19:35617777-35617777
GRCh38: 19:35126873-35126873
3 LGI4 NM_139284.3(LGI4):c.793G>A (p.Ala265Thr) SNV Pathogenic 424865 rs779232987 GRCh37: 19:35617757-35617757
GRCh38: 19:35126853-35126853
4 LGI4 NM_139284.3(LGI4):c.1301T>A (p.Val434Asp) SNV Pathogenic 424868 rs1064797094 GRCh37: 19:35616410-35616410
GRCh38: 19:35125506-35125506
5 LGI4 NM_139284.3(LGI4):c.863G>A (p.Trp288Ter) SNV Pathogenic 424866 rs775997446 GRCh37: 19:35617610-35617610
GRCh38: 19:35126706-35126706
6 LGI4 NM_139284.3(LGI4):c.1299+5G>T SNV Pathogenic 424869 rs1064797095 GRCh37: 19:35617169-35617169
GRCh38: 19:35126265-35126265
7 LGI4 NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter) SNV Pathogenic 549679 rs1366269616 GRCh37: 19:35617320-35617320
GRCh38: 19:35126416-35126416
8 LGI4 NM_139284.3(LGI4):c.200T>G (p.Leu67Arg) SNV Likely pathogenic 549680 rs1555734932 GRCh37: 19:35624979-35624979
GRCh38: 19:35134075-35134075
9 LGI4 NM_139284.3(LGI4):c.834del (p.Ser279fs) Deletion Likely pathogenic 800799 rs1600470099 GRCh37: 19:35617639-35617639
GRCh38: 19:35126735-35126735
10 LGI4 NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter) SNV Likely pathogenic 974840 GRCh37: 19:35617201-35617201
GRCh38: 19:35126297-35126297
11 LGI4 NM_139284.3(LGI4):c.263_265del (p.Phe88del) Deletion Likely pathogenic 974841 GRCh37: 19:35624646-35624648
GRCh38: 19:35133742-35133744
12 LGI4 NM_139284.3(LGI4):c.17T>A (p.Ile6Asn) SNV Uncertain significance 1032440 GRCh37: 19:35625568-35625568
GRCh38: 19:35134664-35134664
13 LGI4 NM_139284.3(LGI4):c.493C>T (p.Arg165Cys) SNV Uncertain significance 1032441 GRCh37: 19:35622425-35622425
GRCh38: 19:35131521-35131521

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect:

72
# Symbol AA change Variation ID SNP ID
1 LGI4 p.Arg258Pro VAR_080055 rs755500591
2 LGI4 p.Val434Asp VAR_080057 rs106479709

Expression for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

Search GEO for disease gene expression data for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect.

Pathways for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

GO Terms for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

Sources for Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin...

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
Content
Loading form....