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LCCS1
MCID: LTH007
MIFTS: 37
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Lethal Congenital Contracture Syndrome 1 (LCCS1)
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 1:
Characteristics:Orphanet epidemiological data:59
lethal congenital contracture syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: infantile; HPO:32
lethal congenital contracture syndrome 1:
Mortality/Aging neonatal death Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Respiratory diseases Neuronal diseases Bone diseases Nephrological diseases
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1486Disease definitionLethal congenitalcontracturesyndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.Visit the Orphanet disease page for more resources.
MalaCards based summary : Lethal Congenital Contracture Syndrome 1, also known as multiple contracture syndrome, finnish type, is related to lethal congenital contracture syndrome and lethal arthrogryposis with anterior horn cell disease. An important gene associated with Lethal Congenital Contracture Syndrome 1 is GLE1 (GLE1, RNA Export Mediator). The drugs Indapamide and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and spinal cord, and related phenotypes are hypertelorism and short neck Disease Ontology : 12 A lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34. OMIM : 57 Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder characterized by congenital nonprogressive 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 (summary by Markus et al., 2012). (253310) UniProtKB/Swiss-Prot : 75 Lethal congenital contracture syndrome 1: 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 (arthrogryposis). 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. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:253310Human phenotypes related to Lethal Congenital Contracture Syndrome 1:59 32 (show all 25)
GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 1 according to GeneCards Suite gene sharing:26 (show all 34)
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Drugs for Lethal Congenital Contracture Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
Cochrane evidence based reviews: lethal congenital contracture syndrome 1 |
MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 1:41
Skeletal Muscle,
Bone,
Spinal Cord,
Lung,
Brain
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Articles related to Lethal Congenital Contracture Syndrome 1:
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Genes related to Lethal Congenital Contracture Syndrome 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 1:75
ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 1:6
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 1.
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Molecular functions related to Lethal Congenital Contracture Syndrome 1 according to GeneCards Suite gene sharing:
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