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LCCS2
MCID: LTH008
MIFTS: 35
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Lethal Congenital Contracture Syndrome 2 (LCCS2)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 2:
Characteristics:Orphanet epidemiological data:58
lethal congenital contracture syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
most affected infants die shortly after birth from respiratory failure HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases Respiratory diseases
ICD10:
33
Orphanet: 58
Developmental anomalies during embryogenesis |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137776 Definition Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
MalaCards based summary : Lethal Congenital Contracture Syndrome 2, also known as lccs2, is related to lethal congenital contracture syndrome 3 and autosomal recessive disease. An important gene associated with Lethal Congenital Contracture Syndrome 2 is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3). Affiliated tissues include skeletal muscle, spinal cord and kidney, and related phenotypes are dilated cardiomyopathy and ventricular septal defect Disease Ontology : 12 A lethal congenital contracture syndrome that can be that has material basis in homozygous mutation in the ERBB3 gene on chromosome 12q13. UniProtKB/Swiss-Prot : 72 Lethal congenital contracture syndrome 2: 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. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. |
Human phenotypes related to Lethal Congenital Contracture Syndrome 2:31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:607598 (Updated 05-Apr-2021)GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:26 (show all 31)
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Cochrane evidence based reviews: lethal congenital contracture syndrome 2 |
MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 2:40
Skeletal Muscle,
Spinal Cord,
Kidney,
Lung
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Articles related to Lethal Congenital Contracture Syndrome 2:
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Genes related to Lethal Congenital Contracture Syndrome 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 2:6
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 2.
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