MCID: ART137
MIFTS: 34

Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect

Categories: Genetic 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 53 71
Arthrogryposis 41 69
Amcnmy 53 71

Characteristics:

OMIM:

53
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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 71 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, also known as arthrogryposis, is related to arthrogryposis, distal, type 5 and distal arthrogryposis, and has symptoms including high palate, retrognathia and narrow forehead. An important gene associated with Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect is LGI4 (Leucine Rich Repeat LGI Family Member 4).

OMIM : 53 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)

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

Diseases related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 227)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 5 12.5
2 distal arthrogryposis 12.5
3 arthrogryposis, distal, type 1a 12.4
4 arthrogryposis multiplex congenita, neurogenic type 12.4
5 arthrogryposis, distal, type 3 12.3
6 arthrogryposis, renal dysfunction, and cholestasis 1 12.3
7 arthrogryposis, distal, type 5d 12.3
8 muscular dystrophy, congenital, producing arthrogryposis 12.2
9 lethal arthrogryposis with anterior horn cell disease 12.2
10 arthrogryposis, distal, type 2a 12.1
11 arthrogryposis, distal, type 4 12.1
12 arthrogryposis, distal, type 8 12.1
13 arthrogryposis, renal dysfunction, and cholestasis 2 12.1
14 arthrogryposis, mental retardation, and seizures 12.1
15 arthrogryposis, perthes disease, and upward gaze palsy 12.1
16 arthrogryposis, distal, type 1b 12.1
17 arthrogryposis, distal, type 7 12.1
18 arthrogryposis, distal, with impaired proprioception and touch 12.1
19 arthrogryposis, distal, type 6 12.1
20 arthrogryposis, distal, type 9 12.1
21 malignant hyperthermia arthrogryposis torticollis 12.0
22 arthrogryposis multiplex congenita whistling face 12.0
23 arthrogryposis-like hand anomaly and sensorineural deafness 12.0
24 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.0
25 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.0
26 fetal akinesia deformation sequence 11.9
27 arthrogryposis, distal, type 10 11.9
28 bruck syndrome 1 11.9
29 autosomal recessive myogenic arthrogryposis multiplex congenita 11.9
30 arthrogryposis, congenital, lower limb, x-linked 11.8
31 arthrogryposis and ectodermal dysplasia 11.8
32 spinal muscular atrophy, x-linked 2 11.8
33 neuropathy, congenital, with arthrogryposis multiplex 11.8
34 arthrogryposis epileptic seizures migrational brain disorder 11.8
35 minicore myopathy, antenatal onset, with arthrogryposis 11.8
36 pelvic dysplasia arthrogryposis of lower limbs 11.8
37 arthrogryposis with hyperkeratosis 11.7
38 pelvic hypoplasia with lower-limb arthrogryposis 11.7
39 arthrogryposis multiplex with deafness, inguinal hernias, and early death 11.7
40 arthrogryposis, distal, type 2e 11.7
41 arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies 11.7
42 arthrogryposis, distal, with mental retardation and characteristic facies 11.7
43 arthrogryposis iugr thoracic dystrophy 11.7
44 arthrogryposis multiplex congenita cns calcification 11.7
45 arthrogryposis spinal muscular atrophy 11.7
46 craniofacial dysostosis arthrogryposis progeroid appearence 11.7
47 craniosynostosis arthrogryposis cleft palate 11.7
48 craniosynostosis cleft lip palate arthrogryposis 11.7
49 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 11.7
50 ectodermal dysplasia arthrogryposis diabetes mellitus 11.7

Graphical network of the top 20 diseases related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect:



Diseases related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
ptosis
strabismus
esotropia

Chest RibsSternum Clavicles And Scapulae:
scapular winging
internally rotated shoulders

Head And Neck Teeth:
dental crowding

Head And Neck Head:
poor head control

Muscle Soft Tissue:
hypotonia
decreased muscle bulk

Head And Neck Ears:
prominent ears

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

Prenatal Manifestations Movement:
decreased fetal movements
fetal akinesia

Respiratory Lung:
pulmonary hypoplasia (in some patients)

Head And Neck Face:
micrognathia
retrognathia
narrow forehead

Skeletal:
arthrogryposis multiplex congenita
contractures
distal arthrogryposis

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

Skeletal Hands:
camptodactyly
flexion of hands

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

Skeletal Feet:
club feet
flexion of feet

Skeletal Pelvis:
hip contractures

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


Clinical features from OMIM:

617468

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

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

UMLS symptoms related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect:


myalgia, muscle weakness, muscle spasticity, muscle rigidity, muscle cramp, metatarsalgia, arthralgia

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

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

Cochrane evidence based reviews: arthrogryposis

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:

(show top 50) (show all 251)
# Title Authors Year
1
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
2
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. ( 29290337 )
2018
3
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. ( 29359444 )
2018
4
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. ( 27782104 )
2017
5
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. ( 27684565 )
2017
6
Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. ( 28264711 )
2017
7
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. ( 28635954 )
2017
8
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. ( 28374019 )
2017
9
Evidence of extensive renewed Schmallenberg virus circulation in Belgium during summer of 2016 - increase in arthrogryposis-hydranencephaly cases expected. ( 28474485 )
2017
10
Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities. ( 28815864 )
2017
11
Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq. ( 29062207 )
2017
12
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation. ( 29254829 )
2017
13
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. ( 28318499 )
2017
14
Microcephaly and arthrogryposis multiplex congenita: The full-blown CNS spectrum in newborns with ZIKV infection. ( 28017252 )
2017
15
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. ( 28254648 )
2017
16
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ( 28344185 )
2017
17
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. ( 27933661 )
2017
18
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. ( 26808426 )
2016
19
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. ( 27912047 )
2016
20
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement. ( 28040389 )
2016
21
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis. ( 27542115 )
2016
22
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. ( 27751653 )
2016
23
A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis. ( 27633718 )
2016
24
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. ( 27214504 )
2016
25
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. ( 27726070 )
2016
26
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. ( 27974811 )
2016
27
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. ( 27843126 )
2016
28
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. ( 26951213 )
2016
29
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle. ( 27546458 )
2016
30
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. ( 27773429 )
2016
31
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. ( 27790376 )
2016
32
The effectiveness of the Ponseti method for treating clubfoot associated with arthrogryposis: up to 8 years follow-up. ( 26833334 )
2016
33
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. ( 27616481 )
2016
34
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. ( 26043511 )
2015
35
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. ( 26016410 )
2015
36
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. ( 25712306 )
2015
37
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. ( 25679999 )
2015
38
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. ( 25608830 )
2015
39
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita. ( 26661508 )
2015
40
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. ( 26365340 )
2015
41
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2015
42
Correction: Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. ( 25951182 )
2015
43
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. ( 26004201 )
2015
44
The Role of Platelets and I/-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage. ( 26505894 )
2015
45
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. ( 24917129 )
2015
46
ECEL1 mutation causes fetal arthrogryposis multiplex congenita. ( 25708584 )
2015
47
AMC: amyoplasia and distal arthrogryposis. ( 26537820 )
2015
48
A gain-of-function mutation in NALCN in a child with intellectual disability, ataxia, and arthrogryposis. ( 25864427 )
2015
49
Results of Primary Talectomy for Clubfoot in Infants and Toddlers with Arthrogryposis Multiplex Congenita. ( 26529813 )
2015
50
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. ( 25855803 )
2015

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

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

71
# Symbol AA change Variation ID SNP ID
1 LGI4 p.Arg258Pro VAR_080055
2 LGI4 p.Val434Asp VAR_080057

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LGI4 NM_139284.2(LGI4): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic rs779232987 GRCh38 Chromosome 19, 35126853: 35126853
2 LGI4 NM_139284.2(LGI4): c.863G> A (p.Trp288Ter) single nucleotide variant Pathogenic rs775997446 GRCh38 Chromosome 19, 35126706: 35126706
3 LGI4 NM_139284.2(LGI4): c.793+5G> C single nucleotide variant Pathogenic rs1064797093 GRCh38 Chromosome 19, 35126848: 35126848
4 LGI4 NM_139284.2(LGI4): c.1301T> A (p.Val434Asp) single nucleotide variant Pathogenic rs1064797094 GRCh37 Chromosome 19, 35616410: 35616410
5 LGI4 NM_139284.2(LGI4): c.1299+5G> T single nucleotide variant Pathogenic rs1064797095 GRCh38 Chromosome 19, 35126265: 35126265
6 LGI4 NM_139284.2(LGI4): c.773G> C (p.Arg258Pro) single nucleotide variant Pathogenic rs755500591 GRCh38 Chromosome 19, 35126873: 35126873

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...

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