MCID: LTH030
MIFTS: 19

Lethal Congenital Contracture Syndrome 8

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 8

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 8:

Name: Lethal Congenital Contracture Syndrome 8 54 71 29
Lccs8 71

Characteristics:

OMIM:

54
Miscellaneous:
death within 3 months of life
one consanguineous family has been reported (last curated march 2015)

Inheritance:
autosomal recessive


HPO:

32
lethal congenital contracture syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lethal Congenital Contracture Syndrome 8

UniProtKB/Swiss-Prot : 71 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, and has symptoms including arthrogryposis multiplex congenita, areflexia and facial diplegia. An important gene associated with Lethal Congenital Contracture Syndrome 8 is ADCY6 (Adenylate Cyclase 6). Affiliated tissues include skeletal muscle and testes.

OMIM : 54
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:

54

Prenatal Manifestations- Amniotic Fluid:
no polyhydramnios

Prenatal Manifestations- Movement:
fetal hypokinesia/akinesia

Skeletal:
arthrogryposis multiplex congenita, distal

Respiratory:
respiratory distress secondary to motor nerve paralysis

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

Skeletal- Limbs:
contractures, distal

Abdomen- Gastroin testinal:
difficulty swallowing

Head And Neck- Face:
facial diplegia


Clinical features from OMIM:

616287

Human phenotypes related to Lethal Congenital Contracture Syndrome 8:

32
id Description HPO Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 32 HP:0002804
2 areflexia 32 HP:0001284
3 facial diplegia 32 HP:0001349
4 muscular hypotonia 32 HP:0001252

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 8

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

id Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 8 29

Anatomical Context for Lethal Congenital Contracture Syndrome 8

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

39
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:

71
id 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
id 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.2975A> G (p.Tyr992Cys) single nucleotide variant Likely pathogenic rs879253864 GRCh37 Chromosome 12, 49165569: 49165569

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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