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 ⁷⁵ ²⁹ ⁶

Lccs7 ⁵⁷ ⁷⁵

Contracture Syndrome, Lethal, Congenital, Type 7 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

lethal congenital contracture syndrome 7:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616286

MedGen ⁴² C4225386 CN228895

MeSH ⁴⁴ D001176

SNOMED-CT via HPO ⁶⁹ 258211005 32958008 349006 more

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Summaries for Lethal Congenital Contracture Syndrome 7

UniProtKB/Swiss-Prot : ⁷⁵ 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 bone, and related phenotypes are micrognathia and arthrogryposis multiplex congenita

OMIM : ⁵⁷ Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, 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)

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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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Face:
facial diplegia
micrognathia (rare)

Abdomen Gastrointestinal:
difficulty swallowing

Respiratory:
respiratory distress secondary to motor nerve paralysis

Skeletal Hands:
flexion contracture of fingers

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

Human phenotypes related to Lethal Congenital Contracture Syndrome 7:

³² (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	micrognathia ³²	occasional (7.5%)	HP:0000347
2	arthrogryposis multiplex congenita ³²		HP:0002804
3	fetal akinesia sequence ³²		HP:0001989
4	paralysis ³²		HP:0003470
5	polyhydramnios ³²		HP:0001561
6	areflexia ³²		HP:0001284
7	facial diplegia ³²		HP:0001349
8	generalized hypotonia ³²		HP:0001290
9	knee flexion contracture ³²		HP:0006380
10	oral-pharyngeal dysphagia ³²		HP:0200136

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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:

⁴¹

Skeletal Muscle, Bone

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Publications for Lethal Congenital Contracture Syndrome 7

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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	PubmedIds
1	CNTNAP1	Contactin Associated Protein 1	Protein Coding	1328.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24319099

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Variations for Lethal Congenital Contracture Syndrome 7

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

⁷⁵

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

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 7:

⁶ (show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CNTNAP1	NM_003632.2(CNTNAP1): c.3009dupT (p.Glu1004Terfs)	duplication	Pathogenic	rs786204799	GRCh38	Chromosome 17, 42695537: 42695537
2	CNTNAP1	NM_003632.2(CNTNAP1): c.3009dupT (p.Glu1004Terfs)	duplication	Pathogenic	rs786204799	GRCh37	Chromosome 17, 40847555: 40847555
3	CNTNAP1	NM_003632.2(CNTNAP1): c.2993-2_2994delAGAT	deletion	Pathogenic	rs786204800	GRCh38	Chromosome 17, 42695519: 42695522
4	CNTNAP1	NM_003632.2(CNTNAP1): c.2993-2_2994delAGAT	deletion	Pathogenic	rs786204800	GRCh37	Chromosome 17, 40847537: 40847540
5	CNTNAP1	NM_003632.2(CNTNAP1): c.2901_2902delCT (p.Cys968Phefs)	deletion	Pathogenic	rs751050956	GRCh37	Chromosome 17, 40845463: 40845464
6	CNTNAP1	NM_003632.2(CNTNAP1): c.2901_2902delCT (p.Cys968Phefs)	deletion	Pathogenic	rs751050956	GRCh38	Chromosome 17, 42693445: 42693446
7	CNTNAP1	NM_003632.2(CNTNAP1): c.1561dupC (p.Leu521Profs)	duplication	Pathogenic		GRCh37	Chromosome 17, 40840998: 40840998
8	CNTNAP1	NM_003632.2(CNTNAP1): c.1561dupC (p.Leu521Profs)	duplication	Pathogenic		GRCh38	Chromosome 17, 42688980: 42688980
9	CNTNAP1	NM_003632.2(CNTNAP1): c.2444C> A (p.Thr815Asn)	single nucleotide variant	Likely pathogenic	rs746361190	GRCh38	Chromosome 17, 42691905: 42691905
10	CNTNAP1	NM_003632.2(CNTNAP1): c.2444C> A (p.Thr815Asn)	single nucleotide variant	Likely pathogenic	rs746361190	GRCh37	Chromosome 17, 40843923: 40843923
11	CNTNAP1	NM_003632.2(CNTNAP1): c.1163G> C (p.Arg388Pro)	single nucleotide variant	Likely pathogenic	rs779027563	GRCh37	Chromosome 17, 40839856: 40839856
12	CNTNAP1	NM_003632.2(CNTNAP1): c.1163G> C (p.Arg388Pro)	single nucleotide variant	Likely pathogenic	rs779027563	GRCh38	Chromosome 17, 42687838: 42687838

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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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Lethal Congenital Contracture Syndrome 7:

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

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

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

ClinVar 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