Congenital Arthrogryposis with Anterior Horn Cell Disease (LAAHD)

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OMIM 58 611890 KEGG 38 H01030 MeSH 45 D001176 D016472 UMLS via Orphanet 75 C2678471

Orphanet 60 ORPHA53696 MedGen 43 C2678471 SNOMED-CT via HPO 70 111246005 258211005 276506001 401138005 74035001 77016009 85672005 95427009 95515009 more

OMIM : ⁵⁸ 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 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, tongue and skeletal muscle, and related phenotypes are low-set ears and short neck

UniProtKB/Swiss-Prot : ⁷⁶ Lethal arthrogryposis with anterior horn cell disease: A 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.

Clinical features from OMIM:

611890

Search Clinical Trials , NIH Clinical Center for Congenital Arthrogryposis with Anterior Horn Cell Disease

Search GEO for disease gene expression data for Congenital Arthrogryposis with Anterior Horn Cell Disease.