Lethal Congenital Contracture Syndrome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 7

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 7:

Name: Lethal Congenital Contracture Syndrome 7 ⁵⁷ ⁷² ²⁹ ⁶

Lccs7 ⁵⁷ ⁷²

Contracture Syndrome, Lethal, Congenital, Type 7 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
death in neonatal period
onset between 28-32 weeks of gestation

HPO:

³¹

lethal congenital contracture syndrome 7:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616286

OMIM Phenotypic Series ⁵⁷ PS253310

MeSH ⁴⁴ D001176

MedGen ⁴¹ C4225386 CN228895

SNOMED-CT via HPO ⁶⁸ 111246005 202289003 204043002 more

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Summaries for Lethal Congenital Contracture Syndrome 7

UniProtKB/Swiss-Prot : ⁷² Lethal congenital contracture syndrome 7: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period.

MalaCards based summary : Lethal Congenital Contracture Syndrome 7, is also known as lccs7. An important gene associated with Lethal Congenital Contracture Syndrome 7 is CNTNAP1 (Contactin Associated Protein 1). Affiliated tissues include skeletal muscle, and related phenotypes are micrognathia and skeletal muscle atrophy

OMIM® : ⁵⁷ Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). (616286) (Updated 05-Apr-2021)

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Related Diseases for Lethal Congenital Contracture Syndrome 7

Diseases in the Lethal Congenital Contracture Syndrome family:

Lethal Congenital Contracture Syndrome 1	Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 3	Lethal Congenital Contracture Syndrome 4
Lethal Congenital Contracture Syndrome 5	Lethal Congenital Contracture Syndrome 6
Lethal Congenital Contracture Syndrome 7	Lethal Congenital Contracture Syndrome 8
Lethal Congenital Contracture Syndrome 9	Lethal Congenital Contracture Syndrome 10
Lethal Congenital Contracture Syndrome 11

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 7

Human phenotypes related to Lethal Congenital Contracture Syndrome 7:

³¹ (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	micrognathia ³¹	occasional (7.5%)	HP:0000347
2	skeletal muscle atrophy ³¹		HP:0003202
3	fetal akinesia sequence ³¹		HP:0001989
4	polyhydramnios ³¹		HP:0001561
5	areflexia ³¹		HP:0001284
6	arthrogryposis multiplex congenita ³¹		HP:0002804
7	hypoplasia of the corpus callosum ³¹		HP:0002079
8	cerebellar atrophy ³¹		HP:0001272
9	knee flexion contracture ³¹		HP:0006380
10	cerebral atrophy ³¹		HP:0002059
11	generalized hypotonia ³¹		HP:0001290
12	oral-pharyngeal dysphagia ³¹		HP:0200136
13	small basal ganglia ³¹		HP:0012697
14	paralysis ³¹		HP:0003470
15	facial diplegia ³¹		HP:0001349

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Face:
micrognathia
facial diplegia

Neurologic Peripheral Nervous System:
areflexia
motor paralysis, severe, present at birth
reduced motor nerve conduction velocities
marked widening of the node of ranvier seen on biopsy
absence of large myelinated axons
more

Muscle Soft Tissue:
hypotonia
muscle atrophy
neurogenic muscle weakness

Abdomen Gastrointestinal:
difficulty swallowing

Respiratory:
respiratory distress secondary to motor nerve paralysis

Skeletal Hands:
flexion contracture of fingers

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
small basal ganglia
hypotonia
thin corpus callosum
more

Skeletal Limbs:
flexion contracture of knees
multiple distal joint contractures

Prenatal Manifestations Movement:
fetal hypokinesia
fetal akinesia

Skeletal:
arthrogryposis multiplex congenita, distal

Skeletal Feet:
flexion contracture ankle

Clinical features from OMIM®:

616286 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 7

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome 7

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Genetic Tests for Lethal Congenital Contracture Syndrome 7

Genetic tests related to Lethal Congenital Contracture Syndrome 7:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 7 ²⁹	CNTNAP1

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Anatomical Context for Lethal Congenital Contracture Syndrome 7

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 7:

⁴⁰

Skeletal Muscle

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Publications for Lethal Congenital Contracture Syndrome 7

Articles related to Lethal Congenital Contracture Syndrome 7:

#	Title	Authors	PMID	Year
1	Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. ⁶ ⁵⁷	Lakhani S...Ben-Omran T	28254648	2017
2	Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. ⁵⁷ ⁶	Laquerriere A...Melki J	24319099	2014
3	Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. ⁶	Mehta P...Agrawal PB	27668699	2017
4	CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. ⁶	Hengel H...Schols L	28374019	2017
5	Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. ⁶	Vallat JM...Mathis S	27818385	2016
6	CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. ⁶¹	Sabbagh S...Megarbane A	32328110	2020

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Genes for Lethal Congenital Contracture Syndrome 7

Genes related to Lethal Congenital Contracture Syndrome 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CNTNAP1	Contactin Associated Protein 1	Protein Coding	1343.1	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	24319099

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Variations for Lethal Congenital Contracture Syndrome 7

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 7:

⁶ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CNTNAP1	NM_003632.3(CNTNAP1):c.3009dup (p.Glu1004Ter)	Duplication	Pathogenic	189261	rs786204799	GRCh37: 17:40847552-40847553 GRCh38: 17:42695534-42695535
2	CNTNAP1	NM_003632.3(CNTNAP1):c.2993-1_2995del	Deletion	Pathogenic	189262	rs786204800	GRCh37: 17:40847537-40847540 GRCh38: 17:42695519-42695522
3	CNTNAP1	NM_003632.3(CNTNAP1):c.967T>C (p.Cys323Arg)	SNV	Pathogenic	242386	rs768554986	GRCh37: 17:40838987-40838987 GRCh38: 17:42686969-42686969
4	CNTNAP1	NM_003632.3(CNTNAP1):c.2668C>T (p.Arg890Ter)	SNV	Pathogenic	692016	rs144659252	GRCh37: 17:40844654-40844654 GRCh38: 17:42692636-42692636
5	CNTNAP1	GRCh37/hg19 17q21.2(chr17:40842168-40846218)x1	copy number loss	Pathogenic	984430		GRCh37: 17:40842168-40846218 GRCh38:
6	CNTNAP1	NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)	Deletion	Pathogenic	204313	rs751050956	GRCh37: 17:40845463-40845464 GRCh38: 17:42693445-42693446
7	CNTNAP1	NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs)	Duplication	Pathogenic	254173	rs1555642784	GRCh37: 17:40840997-40840998 GRCh38: 17:42688979-42688980
8	CNTNAP1	NM_003632.3(CNTNAP1):c.3657_3660dup (p.Leu1221fs)	Duplication	Pathogenic	1032140		GRCh37: 17:40849658-40849659 GRCh38: 17:42697640-42697641
9	CNTNAP1	NM_003632.3(CNTNAP1):c.2444C>A (p.Thr815Asn)	SNV	Likely pathogenic	266117	rs746361190	GRCh37: 17:40843923-40843923 GRCh38: 17:42691905-42691905
10	CNTNAP1	NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)	SNV	Conflicting interpretations of pathogenicity	522842	rs779027563	GRCh37: 17:40839856-40839856 GRCh38: 17:42687838-42687838
11	CNTNAP1	NM_003632.3(CNTNAP1):c.2930G>A (p.Arg977His)	SNV	Uncertain significance	1031348		GRCh37: 17:40845492-40845492 GRCh38: 17:42693474-42693474

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 7:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	CNTNAP1	p.Cys323Arg	VAR_078818	rs768554986

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Expression for Lethal Congenital Contracture Syndrome 7

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 7.

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Pathways for Lethal Congenital Contracture Syndrome 7

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GO Terms for Lethal Congenital Contracture Syndrome 7

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Lethal Congenital Contracture Syndrome 7 (LCCS7)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 7

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 7:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 7

Related Diseases for Lethal Congenital Contracture Syndrome 7

Diseases in the Lethal Congenital Contracture Syndrome family:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 7

Human phenotypes related to Lethal Congenital Contracture Syndrome 7:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 7

Genetic Tests for Lethal Congenital Contracture Syndrome 7

Genetic tests related to Lethal Congenital Contracture Syndrome 7:

Anatomical Context for Lethal Congenital Contracture Syndrome 7

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 7:

Publications for Lethal Congenital Contracture Syndrome 7

Articles related to Lethal Congenital Contracture Syndrome 7:

Genes for Lethal Congenital Contracture Syndrome 7

Genes related to Lethal Congenital Contracture Syndrome 7 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 7

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 7:

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 7:

Expression for Lethal Congenital Contracture Syndrome 7

Pathways for Lethal Congenital Contracture Syndrome 7

GO Terms for Lethal Congenital Contracture Syndrome 7

Sources for Lethal Congenital Contracture Syndrome 7