LCCS5
MCID: LTH027
MIFTS: 23
|
Lethal Congenital Contracture Syndrome 5 (LCCS5)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
|
|
MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 5:
Characteristics:Orphanet epidemiological data:59
fetal akinesia-cerebral and retinal hemorrhage syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Miscellaneous:
death in infancy onset in utero one family has been reported (last curated august 2013)
Inheritance:
autosomal recessive HPO:32
lethal congenital contracture syndrome 5:
Mortality/Aging death in infancy Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Respiratory diseases Bone diseases Nephrological diseases
ICD10:
34
|
UniProtKB/Swiss-Prot
:
75
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). The drugs Indapamide and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency and flexion contracture
Description from OMIM:
615368
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615368Human phenotypes related to Lethal Congenital Contracture Syndrome 5:32 (show all 13)
|
Drugs for Lethal Congenital Contracture Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
|
MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 5:41
Skeletal Muscle,
Bone
|
UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 5:75
ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:6
|
Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 5.
|
|
|