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LCCS3
MCID: LTH047
MIFTS: 28
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Lethal Congenital Contracture Syndrome 3 (LCCS3)
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 3:
Characteristics:Inheritance:
Lethal Congenital Contracture Syndrome 3:
Autosomal recessive 57
Lethal Congenital Contracture Syndrome Type 3:
Autosomal recessive 58
Prevelance:
Lethal Congenital Contracture Syndrome Type 3:
<1/1000000 (Worldwide) 58
Age Of Onset:
Lethal Congenital Contracture Syndrome Type 3:
Antenatal,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
death due to respiratory insufficiency within minutes to hours after birth Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Nephrological diseases Muscle diseases Neuronal diseases Respiratory diseases Eye diseases
ICD10:
32
Orphanet: 58
Developmental anomalies during embryogenesis |
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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 (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. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect. MalaCards based summary: Lethal Congenital Contracture Syndrome 3, also known as lethal congenital contractural syndrome 3, is related to lethal congenital contracture syndrome and lethal congenital contracture syndrome 2. An important gene associated with Lethal Congenital Contracture Syndrome 3 is PIP5K1C (Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma). Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy Orphanet: 58 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. Disease Ontology: 11 A lethal congenital contracture syndrome that has material basis in homozygous mutation in the PIP5K1C gene on chromosome 19p13. |
Human phenotypes related to Lethal Congenital Contracture Syndrome 3:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:611369 (Updated 08-Dec-2022) |
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Organs/tissues related to Lethal Congenital Contracture Syndrome 3:
MalaCards :
Skeletal Muscle,
Bone
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Articles related to Lethal Congenital Contracture Syndrome 3:
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Genes related to Lethal Congenital Contracture Syndrome 3 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 3:5
UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 3:73
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 3.
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Biological processes related to Lethal Congenital Contracture Syndrome 3 according to GeneCards Suite gene sharing:
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