AMCNMY
MCID: ART137
MIFTS: 21

Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect (AMCNMY)

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

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

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

Name: Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 56 73 36 6
Amcnmy 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



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

UniProtKB/Swiss-Prot : 73 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.

MalaCards based summary : Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect, is also known as amcnmy. An important gene associated with Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect is LGI4 (Leucine Rich Repeat LGI Family Member 4). Related phenotypes are seizures and pulmonary hypoplasia

OMIM : 56 AMCNMY 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)

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.

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

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

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

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis
strabismus
esotropia

Skeletal:
arthrogryposis multiplex congenita
distal arthrogryposis
contractures

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

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:
micrognathia
narrow forehead
retrognathia

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

Head And Neck Teeth:
dental crowding

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

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

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

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

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

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

Articles related to Arthrogryposis Multiplex Congenita, 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. 56 6
28318499 2017

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LGI4 NM_139284.3(LGI4):c.793G>A (p.Ala265Thr)SNV Pathogenic 424865 rs779232987 19:35617757-35617757 19:35126853-35126853
2 LGI4 NM_139284.3(LGI4):c.863G>A (p.Trp288Ter)SNV Pathogenic 424866 rs775997446 19:35617610-35617610 19:35126706-35126706
3 LGI4 NM_139284.3(LGI4):c.793+5G>CSNV Pathogenic 424867 rs1064797093 19:35617752-35617752 19:35126848-35126848
4 LGI4 NM_139284.3(LGI4):c.1301T>A (p.Val434Asp)SNV Pathogenic 424868 rs1064797094 19:35616410-35616410 19:35125506-35125506
5 LGI4 NM_139284.3(LGI4):c.1299+5G>TSNV Pathogenic 424869 rs1064797095 19:35617169-35617169 19:35126265-35126265
6 LGI4 NM_139284.3(LGI4):c.773G>C (p.Arg258Pro)SNV Pathogenic 424870 rs755500591 19:35617777-35617777 19:35126873-35126873
7 LGI4 NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter)SNV Pathogenic 549679 rs1366269616 19:35617320-35617320 19:35126416-35126416
8 LGI4 NM_139284.3(LGI4):c.200T>G (p.Leu67Arg)SNV Likely pathogenic 549680 rs1555734932 19:35624979-35624979 19:35134075-35134075
9 LGI4 NM_139284.3(LGI4):c.834del (p.Ser279fs)deletion Likely pathogenic 800799 19:35617639-35617639 19:35126735-35126735

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

73
# 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, Neurogenic, with Myelin...

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

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

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

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

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