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

Sources

Aliases & Classifications for Lethal Congenital Contracture Syndrome 8

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 8:

Name: Lethal Congenital Contracture Syndrome 8 ⁵⁷ ⁷³ ²⁸ ⁵

Lccs8 ⁵⁷ ⁷³

Contracture Syndrome, Lethal, Congenital, Type 8 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616287

OMIM Phenotypic Series ⁵⁷ PS253310

MeSH ⁴³ D001176

MedGen ⁴⁰ C4225385 CN228896

SNOMED-CT via HPO ⁶⁹ 111246005 349006 37280007 more

Sources

Summaries for Lethal Congenital Contracture Syndrome 8

UniProtKB/Swiss-Prot: ⁷³ 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, also known as lccs8, is related to arthrogryposis, distal, type 1a and distal arthrogryposis. An important gene associated with Lethal Congenital Contracture Syndrome 8 is ADCY6 (Adenylate Cyclase 6). Affiliated tissues include skeletal muscle, and related phenotypes are areflexia and arthrogryposis multiplex congenita

OMIM®: ⁵⁷ Lethal congenital contracture syndrome-8 (LCCS8), 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) (Updated 08-Dec-2022)

Sources

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

Diseases related to Lethal Congenital Contracture Syndrome 8 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	arthrogryposis, distal, type 1a	10.1
2	distal arthrogryposis	10.1
3	lethal congenital contracture syndrome	10.1
4	congenital contractures	10.1

Sources

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 8

Human phenotypes related to Lethal Congenital Contracture Syndrome 8:

³⁰

#	Description	HPO Source Accession
1	areflexia ³⁰	HP:0001284
2	arthrogryposis multiplex congenita ³⁰	HP:0002804
3	generalized hypotonia ³⁰	HP:0001290
4	oral-pharyngeal dysphagia ³⁰	HP:0200136
5	facial diplegia ³⁰	HP:0001349

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Peripheral Nervous System:
hypotonia
areflexia
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 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 8

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

Sources

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 ²⁸	ADCY6

Sources

Anatomical Context for Lethal Congenital Contracture Syndrome 8

Organs/tissues related to Lethal Congenital Contracture Syndrome 8:

MalaCards : Skeletal Muscle

Sources

Publications for Lethal Congenital Contracture Syndrome 8

Articles related to Lethal Congenital Contracture Syndrome 8:

#	Title	Authors	PMID	Year
1	Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. ⁶² ⁵⁷ ⁵	Agolini E...Novelli A	31846058	2020
2	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. ⁵⁷ ⁵	Gonzaga-Jauregui C...Lupski JR	26257172	2015
3	Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. ⁵⁷ ⁵	Laquerriere A...Melki J	24319099	2014

Sources

Genes for Lethal Congenital Contracture Syndrome 8

Genes related to Lethal Congenital Contracture Syndrome 8 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ADCY6	Adenylate Cyclase 6	Protein Coding	1342.13	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)	24319099 31846058 26257172
2	TEX49	Testis Expressed 49	Protein Coding	400	Pathogenic ⁵	24319099

Sources

Variations for Lethal Congenital Contracture Syndrome 8

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 8:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ADCY6, TEX49	NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys)	SNV	Pathogenic	189260	rs786204798	GRCh37: 12:49162755-49162755 GRCh38: 12:48768972-48768972
2	ADCY6	NM_015270.5(ADCY6):c.1535+1G>A	SNV	Pathogenic	995839	rs1941705738	GRCh37: 12:49170210-49170210 GRCh38: 12:48776427-48776427
3	ADCY6	NM_015270.5(ADCY6):c.3007G>A (p.Glu1003Lys)	SNV	Pathogenic	995840	rs1941551290	GRCh37: 12:49165537-49165537 GRCh38: 12:48771754-48771754
4	ADCY6	NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)	SNV	Likely Pathogenic	243078	rs879253864	GRCh37: 12:49165569-49165569 GRCh38: 12:48771786-48771786
5	ADCY6	NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val)	SNV	Uncertain Significance	931553	rs1941741272	GRCh37: 12:49171507-49171507 GRCh38: 12:48777724-48777724

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

⁷³

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

Sources

Expression for Lethal Congenital Contracture Syndrome 8

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

Sources

Pathways for Lethal Congenital Contracture Syndrome 8

Sources

GO Terms for Lethal Congenital Contracture Syndrome 8

Sources

Sources for Lethal Congenital Contracture Syndrome 8

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCCS8 MCID: LTH030 MIFTS: 24	Lethal Congenital Contracture Syndrome 8 (LCCS8) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lethal Congenital Contracture Syndrome 8 (LCCS8)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 8

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 8:

Characteristics:

Inheritance:

OMIM®:

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:

Diseases related to Lethal Congenital Contracture Syndrome 8 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 8

Human phenotypes related to Lethal Congenital Contracture Syndrome 8:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Organs/tissues related to Lethal Congenital Contracture Syndrome 8:

Publications for Lethal Congenital Contracture Syndrome 8

Articles related to Lethal Congenital Contracture Syndrome 8:

Genes for Lethal Congenital Contracture Syndrome 8

Genes related to Lethal Congenital Contracture Syndrome 8 (2 elite genes):

Variations for Lethal Congenital Contracture Syndrome 8

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 8:

UniProtKB/Swiss-Prot 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