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LCCS5
MCID: LTH027
MIFTS: 25
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Lethal Congenital Contracture Syndrome 5 (LCCS5)
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 5:
Characteristics:Inheritance:
Lethal Congenital Contracture Syndrome 5:
Autosomal recessive 57
Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome:
Autosomal recessive 58
Prevelance:
Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome:
Infancy,Neonatal 58
OMIM®:57 (Updated 24-Oct-2022)
Miscellaneous:
death in infancy onset in utero one family has been reported (last curated august 2013) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Bone diseases Respiratory diseases Nephrological diseases Muscle diseases
ICD10:
32
Orphanet: 58
Rare neurological diseases |
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Orphanet: 58 Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. MalaCards based summary: Lethal Congenital Contracture Syndrome 5, is also known as fetal akinesia-cerebral and retinal hemorrhage syndrome. An important gene associated with Lethal Congenital Contracture Syndrome 5 is DNM2 (Dynamin 2). Affiliated tissues include skeletal muscle, bone marrow and bone, and related phenotypes are respiratory insufficiency and flexion contracture 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. |
Human phenotypes related to Lethal Congenital Contracture Syndrome 5:30 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:615368 (Updated 24-Oct-2022) |
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Organs/tissues related to Lethal Congenital Contracture Syndrome 5:
MalaCards :
Skeletal Muscle,
Bone Marrow,
Bone
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Articles related to Lethal Congenital Contracture Syndrome 5:
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Genes related to Lethal Congenital Contracture Syndrome 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:5
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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