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
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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 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:



External Ids:

OMIM® 57 616287
OMIM Phenotypic Series 57 PS253310
MeSH 43 D001176

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)

Related Diseases for Lethal Congenital Contracture Syndrome 8

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 8

Human phenotypes related to Lethal Congenital Contracture Syndrome 8:

30
# Description HPO Frequency Orphanet Frequency 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)

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 8

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

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

Anatomical Context for Lethal Congenital Contracture Syndrome 8

Organs/tissues related to Lethal Congenital Contracture Syndrome 8:

MalaCards : Skeletal Muscle

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
31846058 2020
2
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 57 5
26257172 2015
3
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 57 5
24319099 2014

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

Expression for Lethal Congenital Contracture Syndrome 8

Search GEO for disease gene expression data 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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