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CAAHD
MCID: CNG538
MIFTS: 32
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Congenital Arthrogryposis with Anterior Horn Cell Disease (CAAHD)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Congenital Arthrogryposis with Anterior Horn Cell Disease:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
highly variable severity onset in utero death in infancy or early childhood may occur HPO:31
congenital arthrogryposis with anterior horn cell disease:
Clinical modifier neonatal death Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases
Orphanet: 58
Developmental anomalies during embryogenesis |
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OMIM :
56
Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017).
(611890)
MalaCards based summary : Congenital Arthrogryposis with Anterior Horn Cell Disease, also known as lethal arthrogryposis with anterior horn cell disease, is related to alkuraya-kucinskas syndrome and anterior horn cell disease. An important gene associated with Congenital Arthrogryposis with Anterior Horn Cell Disease is GLE1 (GLE1 RNA Export Mediator). Affiliated tissues include spinal cord, skeletal muscle and tongue, and related phenotypes are seizures and microcephaly KEGG : 36 Lethal arthrogryposis with anterior horn cell disease (LAAHD) is a condition with fetal akinesia deformation sequence (FADS), multiple contractures and facial anomalies. Motor neuron loss is also present in patients with LAAHD. UniProtKB/Swiss-Prot : 73 Congenital arthrogryposis with anterior horn cell disease: An autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe. |
Diseases related to Congenital Arthrogryposis with Anterior Horn Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Congenital Arthrogryposis with Anterior Horn Cell Disease:31 (show all 40)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:611890 |
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MalaCards organs/tissues related to Congenital Arthrogryposis with Anterior Horn Cell Disease:40
Spinal Cord,
Skeletal Muscle,
Tongue
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Articles related to Congenital Arthrogryposis with Anterior Horn Cell Disease:
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Genes related to Congenital Arthrogryposis with Anterior Horn Cell Disease (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Congenital Arthrogryposis with Anterior Horn Cell Disease:6 (show all 37)
UniProtKB/Swiss-Prot genetic disease variations for Congenital Arthrogryposis with Anterior Horn Cell Disease:73
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Search
GEO
for disease gene expression data for Congenital Arthrogryposis with Anterior Horn Cell Disease.
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