LCCS8
MCID: LTH030
MIFTS: 24
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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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MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 8:
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 |
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) |
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:
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Human phenotypes related to Lethal Congenital Contracture Syndrome 8:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:616287 (Updated 08-Dec-2022) |
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Organs/tissues related to Lethal Congenital Contracture Syndrome 8:
MalaCards :
Skeletal Muscle
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Articles related to Lethal Congenital Contracture Syndrome 8:
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 8:5
UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 8:73
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 8.
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