Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ART137 MIFTS: 23	Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Categories: Genetic diseases, Fetal diseases, Rare diseases, Neuronal diseases
Genes Variations Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 617468

Orphanet ⁵⁹ ORPHA2680

MedGen ⁴² C4479539 CN243956

MeSH ⁴⁴ D001176

SNOMED-CT via HPO ⁶⁹ 258211005 27272007 32958008 more

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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 reduced tendon reflexes

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)

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

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

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

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

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

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

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

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

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

Genes related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LGI4	Leucine Rich Repeat LGI Family Member 4	Protein Coding	1579.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	28318499
2	CNTNAP1	Contactin Associated Protein 1	Protein Coding	350	Causative germline mutation ⁵⁹
3	ADCY6	Adenylate Cyclase 6	Protein Coding	350	Causative germline mutation ⁵⁹

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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

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

⁶

(show all 12)

#	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

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

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

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

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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

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