AMCNMY
MCID: ART137
MIFTS: 23

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

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 57 75 6
Amcnmy 57 75
Hypomyelination Neuropathy-Arthrogryposis Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 muscular hypotonia and emg abnormality

OMIM : 57 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...

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
strabismus
esotropia

Chest Ribs Sternum 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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
3 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
4 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
5 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
6 high palate 32 HP:0000218
7 ptosis 32 HP:0000508
8 seizures 32 occasional (7.5%) HP:0001250
9 micrognathia 32 HP:0000347
10 retrognathia 32 HP:0000278
11 elbow flexion contracture 32 HP:0002987
12 scapular winging 32 HP:0003691
13 protruding ear 32 HP:0000411
14 arthrogryposis multiplex congenita 32 HP:0002804
15 talipes equinovarus 32 HP:0001762
16 fetal akinesia sequence 32 HP:0001989
17 dental crowding 32 HP:0000678
18 areflexia 32 HP:0001284
19 hip contracture 32 HP:0003273
20 pulmonary hypoplasia 32 occasional (7.5%) HP:0002089
21 generalized hypotonia 32 HP:0001290
22 ankle contracture 32 HP:0006466
23 knee flexion contracture 32 HP:0006380
24 poor head control 32 HP:0002421
25 esotropia 32 HP:0000565
26 camptodactyly 32 HP:0012385
27 narrow forehead 32 HP:0000341
28 internally rotated shoulders 32 HP:0006659
29 distal arthrogryposis 32 HP:0005684

MGI Mouse Phenotypes related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.13 ADCY6 CNTNAP1 LGI4
2 muscle MP:0005369 8.8 ADCY6 CNTNAP1 LGI4

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...

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

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

75
# Symbol AA change Variation ID SNP ID
1 LGI4 p.Arg258Pro VAR_080055 rs755500591
2 LGI4 p.Val434Asp VAR_080057 rs106479709

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

6 (show all 16)
# 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.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic rs779232987 GRCh37 Chromosome 19, 35617757: 35617757
3 LGI4 NM_139284.2(LGI4): c.863G> A (p.Trp288Ter) single nucleotide variant Pathogenic rs775997446 GRCh38 Chromosome 19, 35126706: 35126706
4 LGI4 NM_139284.2(LGI4): c.863G> A (p.Trp288Ter) single nucleotide variant Pathogenic rs775997446 GRCh37 Chromosome 19, 35617610: 35617610
5 LGI4 NM_139284.2(LGI4): c.793+5G> C single nucleotide variant Pathogenic rs1064797093 GRCh38 Chromosome 19, 35126848: 35126848
6 LGI4 NM_139284.2(LGI4): c.793+5G> C single nucleotide variant Pathogenic rs1064797093 GRCh37 Chromosome 19, 35617752: 35617752
7 LGI4 NM_139284.2(LGI4): c.1301T> A (p.Val434Asp) single nucleotide variant Pathogenic rs1064797094 GRCh37 Chromosome 19, 35616410: 35616410
8 LGI4 NM_139284.2(LGI4): c.1301T> A (p.Val434Asp) single nucleotide variant Pathogenic rs1064797094 GRCh38 Chromosome 19, 35125506: 35125506
9 LGI4 NM_139284.2(LGI4): c.1299+5G> T single nucleotide variant Pathogenic rs1064797095 GRCh38 Chromosome 19, 35126265: 35126265
10 LGI4 NM_139284.2(LGI4): c.1299+5G> T single nucleotide variant Pathogenic rs1064797095 GRCh37 Chromosome 19, 35617169: 35617169
11 LGI4 NM_139284.2(LGI4): c.773G> C (p.Arg258Pro) single nucleotide variant Pathogenic rs755500591 GRCh38 Chromosome 19, 35126873: 35126873
12 LGI4 NM_139284.2(LGI4): c.773G> C (p.Arg258Pro) single nucleotide variant Pathogenic rs755500591 GRCh37 Chromosome 19, 35617777: 35617777
13 LGI4 NM_139284.2(LGI4): c.1153C> T (p.Gln385Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 35126416: 35126416
14 LGI4 NM_139284.2(LGI4): c.1153C> T (p.Gln385Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 35617320: 35617320
15 LGI4 NM_139284.2(LGI4): c.200T> G (p.Leu67Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 35134075: 35134075
16 LGI4 NM_139284.2(LGI4): c.200T> G (p.Leu67Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 35624979: 35624979

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...

Biological processes related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelination in peripheral nervous system GO:0022011 8.62 CNTNAP1 LGI4

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

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