LCCS6
MCID: LTH031
MIFTS: 21
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Lethal Congenital Contracture Syndrome 6 (LCCS6)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 6:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 1 saudi arabian family (last curated february 2015) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Respiratory diseases Bone diseases Nephrological diseases |
UniProtKB/Swiss-Prot :
73
Lethal congenital contracture syndrome 6: 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. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities.
MalaCards based summary : Lethal Congenital Contracture Syndrome 6, also known as lccs6, is related to alkuraya-kucinskas syndrome and distal arthrogryposis. An important gene associated with Lethal Congenital Contracture Syndrome 6 is ZBTB42 (Zinc Finger And BTB Domain Containing 42). Affiliated tissues include skeletal muscle, and related phenotypes are macrocephaly and polyhydramnios |
Diseases in the Lethal Congenital Contracture Syndrome family:Diseases related to Lethal Congenital Contracture Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome 6:![]() |
Human phenotypes related to Lethal Congenital Contracture Syndrome 6:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616248 |
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MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 6:40
Skeletal Muscle
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Articles related to Lethal Congenital Contracture Syndrome 6:
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 6:6
UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 6:73
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 6.
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