LCCS8
MCID: LTH030
MIFTS: 24

Lethal Congenital Contracture Syndrome 8 (LCCS8)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lethal Congenital Contracture Syndrome 8

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 8:

Name: Lethal Congenital Contracture Syndrome 8 57 72 29 6
Lccs8 57 72
Contracture Syndrome, Lethal, Congenital, Type 8 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
lethal congenital contracture syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616287
OMIM Phenotypic Series 57 PS253310
MeSH 44 D001176

Summaries for Lethal Congenital Contracture Syndrome 8

UniProtKB/Swiss-Prot : 72 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, also known as lccs8, is related to lethal congenital contracture syndrome 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 05-Apr-2021)

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:

31
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 arthrogryposis multiplex congenita 31 HP:0002804
3 generalized hypotonia 31 HP:0001290
4 oral-pharyngeal dysphagia 31 HP:0200136
5 facial diplegia 31 HP:0001349

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 29 ADCY6

Anatomical Context for Lethal Congenital Contracture Syndrome 8

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

40
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. 57 6 61
31846058 2020
2
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6 57
26257172 2015
3
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 57 6
24319099 2014

Variations for Lethal Congenital Contracture Syndrome 8

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 8:

6
# 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 ADCY6, TYR992CYS Variation Pathogenic 995838 GRCh37:
GRCh38:
3 ADCY6 NM_015270.5(ADCY6):c.1535+1G>A SNV Pathogenic 995839 GRCh37: 12:49170210-49170210
GRCh38: 12:48776427-48776427
4 ADCY6 NM_015270.5(ADCY6):c.3007G>A (p.Glu1003Lys) SNV Pathogenic 995840 GRCh37: 12:49165537-49165537
GRCh38: 12:48771754-48771754
5 ADCY6 NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) SNV Likely pathogenic 243078 rs879253864 GRCh37: 12:49165569-49165569
GRCh38: 12:48771786-48771786
6 ADCY6 NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val) SNV Uncertain significance 931553 GRCh37: 12:49171507-49171507
GRCh38: 12:48777724-48777724

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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