LCCS10
MCID: LTH042
MIFTS: 25
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Lethal Congenital Contracture Syndrome 10 (LCCS10)
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 10:
Characteristics:Inheritance:
Lethal Congenital Contracture Syndrome 10:
Autosomal recessive 57
Nek9-Related Lethal Skeletal Dysplasia:
Autosomal recessive 58
Prevelance:
Nek9-Related Lethal Skeletal Dysplasia:
<1/1000000 (Worldwide) 58
Age Of Onset:
Nek9-Related Lethal Skeletal Dysplasia:
Antenatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 5 patients from 2 likely related irish traveler families (last curated july 2016) Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Respiratory diseases Bone diseases Neuronal diseases Eye diseases Nephrological diseases Muscle diseases
ICD10:
32
Orphanet: 58
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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. 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 10, is also known as nek9-related lethal skeletal dysplasia. An important gene associated with Lethal Congenital Contracture Syndrome 10 is NEK9 (NIMA Related Kinase 9). Affiliated tissues include bone, skeletal muscle and thymus, and related phenotypes are high palate and short neck Orphanet: 58 NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. |
Human phenotypes related to Lethal Congenital Contracture Syndrome 10:30 (show all 23)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617022 (Updated 08-Dec-2022) |
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Organs/tissues related to Lethal Congenital Contracture Syndrome 10:
MalaCards :
Bone,
Skeletal Muscle,
Thymus,
Spleen,
Heart,
Lung
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Articles related to Lethal Congenital Contracture Syndrome 10:
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 10:5
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 10.
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