Lethal Congenital Contracture Syndrome 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 8

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 8:

Name: Lethal Congenital Contracture Syndrome 8 ⁵⁷ ⁷⁵ ²⁹ ⁶

Lccs8 ⁵⁷ ⁷⁵

Contracture Syndrome, Lethal, Congenital, Type 8 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous family has been reported (last curated march 2015)
death within 3 months of life

HPO:

³²

lethal congenital contracture syndrome 8:
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 616287

MedGen ⁴² C4225385 CN228896

MeSH ⁴⁴ D001176

SNOMED-CT via HPO ⁶⁹ 258211005 349006 37280007 more

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Summaries for Lethal Congenital Contracture Syndrome 8

UniProtKB/Swiss-Prot : ⁷⁵ Lethal congenital contracture syndrome 8: 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. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period.

MalaCards based summary : Lethal Congenital Contracture Syndrome 8, is also known as lccs8. An important gene associated with Lethal Congenital Contracture Syndrome 8 is ADCY6 (Adenylate Cyclase 6). Affiliated tissues include skeletal muscle, bone and testes, and related phenotypes are arthrogryposis multiplex congenita and areflexia

OMIM : ⁵⁷ Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, 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). (616287)

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Related Diseases for Lethal Congenital Contracture Syndrome 8

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 8

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Peripheral Nervous System:
areflexia
hypotonia
no response on motor nerve conduction velocity testing

Abdomen Gastrointestinal:
difficulty swallowing

Skeletal:
arthrogryposis multiplex congenita, distal

Prenatal Manifestations Movement:
fetal hypokinesia/akinesia

Head And Neck Face:
facial diplegia

Respiratory:
respiratory distress secondary to motor nerve paralysis

Skeletal Limbs:
contractures, distal

Prenatal Manifestations Amniotic Fluid:
no polyhydramnios

Clinical features from OMIM:

616287

Human phenotypes related to Lethal Congenital Contracture Syndrome 8:

³²

#	Description	HPO Source Accession
1	arthrogryposis multiplex congenita ³²	HP:0002804
2	areflexia ³²	HP:0001284
3	facial diplegia ³²	HP:0001349
4	generalized hypotonia ³²	HP:0001290
5	oral-pharyngeal dysphagia ³²	HP:0200136

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 8

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome 8

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Genetic Tests for Lethal Congenital Contracture Syndrome 8

Genetic tests related to Lethal Congenital Contracture Syndrome 8:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 8 ²⁹	ADCY6

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Anatomical Context for Lethal Congenital Contracture Syndrome 8

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 8:

⁴¹

Skeletal Muscle, Bone, Testes

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Publications for Lethal Congenital Contracture Syndrome 8

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Genes for Lethal Congenital Contracture Syndrome 8

Genes related to Lethal Congenital Contracture Syndrome 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ADCY6	Adenylate Cyclase 6	Protein Coding	1378.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	24319099
2	MIR4701	MicroRNA 4701	RNA Gene	7.84	GeneCards inferred via : Variants (show sections)

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Variations for Lethal Congenital Contracture Syndrome 8

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 8:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ADCY6	p.Arg1116Cys	VAR_073434	rs786204798

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 8:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ADCY6	NM_015270.4(ADCY6): c.3346C> T (p.Arg1116Cys)	single nucleotide variant	Pathogenic	rs786204798	GRCh37	Chromosome 12, 49162755: 49162755
2	ADCY6	NM_015270.4(ADCY6): c.3346C> T (p.Arg1116Cys)	single nucleotide variant	Pathogenic	rs786204798	GRCh38	Chromosome 12, 48768972: 48768972
3	ADCY6	NM_015270.4(ADCY6): c.2975A> G (p.Tyr992Cys)	single nucleotide variant	Likely pathogenic	rs879253864	GRCh37	Chromosome 12, 49165569: 49165569
4	ADCY6	NM_015270.4(ADCY6): c.2975A> G (p.Tyr992Cys)	single nucleotide variant	Likely pathogenic	rs879253864	GRCh38	Chromosome 12, 48771786: 48771786

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Expression for Lethal Congenital Contracture Syndrome 8

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 8.

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Pathways for Lethal Congenital Contracture Syndrome 8

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GO Terms for Lethal Congenital Contracture Syndrome 8

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Lethal Congenital Contracture Syndrome 8 (LCCS8)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 8

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 8:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 8

Related Diseases for Lethal Congenital Contracture Syndrome 8

Diseases in the Lethal Congenital Contracture Syndrome family:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 8

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Lethal Congenital Contracture Syndrome 8:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 8

Genetic Tests for Lethal Congenital Contracture Syndrome 8

Genetic tests related to Lethal Congenital Contracture Syndrome 8:

Anatomical Context for Lethal Congenital Contracture Syndrome 8

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 8:

Publications for Lethal Congenital Contracture Syndrome 8

Genes for Lethal Congenital Contracture Syndrome 8

Genes related to Lethal Congenital Contracture Syndrome 8 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 8

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 8:

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 8:

Expression for Lethal Congenital Contracture Syndrome 8

Pathways for Lethal Congenital Contracture Syndrome 8

GO Terms for Lethal Congenital Contracture Syndrome 8

Sources for Lethal Congenital Contracture Syndrome 8