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LCCS3
MCID: LTH047
MIFTS: 23
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Lethal Congenital Contracture Syndrome 3 (LCCS3)
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 3:
Characteristics:Orphanet epidemiological data:60
lethal congenital contracture syndrome type 3
Inheritance: Autosomal recessive; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
death due to respiratory insufficiency within minutes to hours after birth HPO:33
lethal congenital contracture syndrome 3:
Mortality/Aging neonatal death Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Respiratory diseases Bone diseases Nephrological diseases
ICD10:
35
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UniProtKB/Swiss-Prot
:
76
Lethal congenital contracture syndrome 3: 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. 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 related phenotypes are respiratory insufficiency and skeletal muscle atrophy Disease Ontology : 12 A lethal congenital contracture syndrome that has material basis in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
Description from OMIM:
611369
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Diseases in the Lethal Congenital Contracture Syndrome family:Diseases related to Lethal Congenital Contracture Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Lethal Congenital Contracture Syndrome 3:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:611369 |
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MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 3:42
Skeletal Muscle
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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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UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 3:76
ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 3:6
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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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