MCID: LTH030
MIFTS: 21

Lethal Congenital Contracture Syndrome 8

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



External Ids:

OMIM 57 616287
MeSH 44 D001176

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 and testes, and related phenotypes are areflexia and generalized hypotonia

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)

Related Diseases for Lethal Congenital Contracture Syndrome 8

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
facial diplegia

Abdomen Gastrointestinal:
difficulty swallowing

Skeletal Limbs:
contractures, distal

Prenatal Manifestations Movement:
fetal hypokinesia/akinesia

Respiratory:
respiratory distress secondary to motor nerve paralysis

Skeletal:
arthrogryposis multiplex congenita, distal

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

Prenatal Manifestations Amniotic Fluid:
no polyhydramnios


Clinical features from OMIM:

616287

Human phenotypes related to Lethal Congenital Contracture Syndrome 8:

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

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:

41
Skeletal Muscle, Testes

Publications for Lethal Congenital Contracture Syndrome 8

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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