LCCS5
MCID: LTH027
MIFTS: 24
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Lethal Congenital Contracture Syndrome 5 (LCCS5)
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 5:
Characteristics:Orphanet epidemiological data:58
fetal akinesia-cerebral and retinal hemorrhage syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Miscellaneous:
death in infancy onset in utero one family has been reported (last curated august 2013)
Inheritance:
autosomal recessive HPO:31
lethal congenital contracture syndrome 5:
Clinical modifier death in infancy Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Respiratory diseases Bone diseases Nephrological diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Lethal congenital contracture syndrome 5: 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.
MalaCards based summary : Lethal Congenital Contracture Syndrome 5, is also known as lccs5. An important gene associated with Lethal Congenital Contracture Syndrome 5 is DNM2 (Dynamin 2). Affiliated tissues include skeletal muscle and bone, and related phenotypes are flexion contracture and elevated serum creatine kinase |
Human phenotypes related to Lethal Congenital Contracture Syndrome 5:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615368 |
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MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 5:40
Skeletal Muscle,
Bone
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Articles related to Lethal Congenital Contracture Syndrome 5:
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:6
UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 5:73
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 5.
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