MCID: ART137
MIFTS: 20

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 54 71
Arthrogryposis 42 69
Amcnmy 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 54 617468
MedGen 40 CN243956
MeSH 42 D001176

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 distal arthrogryposis and arthrogryposis multiplex congenita, distal, type 1, and has symptoms including arthralgia, metatarsalgia and muscle cramp. An important gene associated with Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect is LGI4 (Leucine Rich Repeat LGI Family Member 4).

OMIM : 54
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 204)
id Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 12.4
2 arthrogryposis multiplex congenita, distal, type 1 12.2
3 neurogenic arthrogryposis multiplex congenita 12.2
4 arthrogryposis, distal, type 5 12.1
5 arthrogryposis, distal, type 2b 12.1
6 arthrogryposis, distal, type 5d 12.1
7 arthrogryposis, renal dysfunction, and cholestasis 1 12.1
8 arthrogryposis, distal, type 3 12.0
9 arthrogryposis-like hand anomaly and sensorineural deafness 12.0
10 arthrogryposis, lethal, with anterior horn cell disease 12.0
11 arthrogryposis, distal, type 8 12.0
12 arthrogryposis, distal, type 2a 12.0
13 arthrogryposis, distal, type 1b 12.0
14 arthrogryposis, mental retardation, and seizures 11.9
15 arthrogryposis, renal dysfunction, and cholestasis 2 11.9
16 arthrogryposis, distal, with impaired proprioception and touch 11.9
17 arthrogryposis, perthes disease, and upward gaze palsy 11.9
18 arthrogryposis, distal, type 4 11.9
19 muscular dystrophy, congenital, producing arthrogryposis 11.9
20 malignant hyperthermia arthrogryposis torticollis 11.9
21 arthrogryposis, distal, type 6 11.9
22 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 11.9
23 arthrogryposis multiplex congenita whistling face 11.9
24 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.8
25 autosomal recessive myogenic arthrogryposis multiplex congenita 11.8
26 fetal akinesia deformation sequence 11.7
27 arthrogryposis and ectodermal dysplasia 11.6
28 pelvic dysplasia arthrogryposis of lower limbs 11.6
29 minicore myopathy, antenatal onset, with arthrogryposis 11.6
30 neuropathy, congenital, with arthrogryposis multiplex 11.6
31 pelvic hypoplasia with lower-limb arthrogryposis 11.6
32 arthrogryposis epileptic seizures migrational brain disorder 11.6
33 arthrogryposis with hyperkeratosis 11.6
34 tpm2-related arthrogryposis multiplex congenita, distal, type 2b 11.6
35 vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome 11.6
36 vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome 11.6
37 arthrogryposis, distal, type 10 11.6
38 craniosynostosis arthrogryposis cleft palate 11.6
39 craniosynostosis cleft lip palate arthrogryposis 11.6
40 overgrowth radial ray defect arthrogryposis 11.6
41 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 11.6
42 myh3-related arthrogryposis multiplex congenita, distal, type 2b 11.6
43 ectodermal dysplasia arthrogryposis diabetes mellitus 11.6
44 tnni2-related arthrogryposis multiplex congenita, distal, type 2b 11.6
45 arthrogryposis iugr thoracic dystrophy 11.6
46 tnnt3-related arthrogryposis multiplex congenita, distal, type 2b 11.6
47 arthrogryposis multiplex congenita cns calcification 11.6
48 facies unusual arthrogryposis advanced skeletal malformations 11.6
49 herrmann opitz arthrogryposis syndrome 11.6
50 spondylohypoplasia, arthrogryposis and popliteal pterygium 11.6

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:

54

Head And Neck- Head:
poor head control

Muscle Soft Tissue:
hypotonia
decreased muscle bulk

Head And Neck- Face:
micrognathia
retrognathia
narrow forehead

Skeletal- Pelvis:
hip contractures

Skeletal- Feet:
club feet
flexion of feet

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

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

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

Respiratory- Lung:
pulmonary hypoplasia (in some patients)

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

Head And Neck- Eyes:
strabismus
ptosis
esotropia

Skeletal:
arthrogryposis multiplex congenita
contractures
distal arthrogryposis

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

Skeletal- Hands:
camptodactyly
flexion of hands

Prenatal Manifestations- Movement:
decreased fetal movements
fetal akinesia

Head And Neck- Ears:
prominent ears

Head And Neck- Teeth:
dental crowding


Clinical features from OMIM:

617468

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


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

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...

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

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

6
id 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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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