Congenital arthrogryposis with anterior horn cell disease

Preferred Label : Congenital arthrogryposis with anterior horn cell disease;

Symbol : CAAHD;

CISMeF acronym : LAAHD; CAAHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LAAHD; Lethal arthrogryposis with anterior horn cell disease;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GLE1, RNA export mediator gene (GLE1, 603371.0002);

Prefixed ID : #611890;

Détails

Origin ID

611890;

UMLS CUI

C5193016;

Currated CISMeF NLP mapping
- Arthrogryposis-anterior horn cell disease syndrome [ORDO Disease]
- Lethal arthrogryposis - anterior horn cell disease [ICD-11 More detail]
- Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) [SNOMED CT concept]
- lethal arthrogryposis with anterior horn cell disease [MeSH concept]
- lethal arthrogryposis with anterior horn cell disease [MeSH Supplementary Concept]
Genes related to phenotype
- Gle1, rna export mediator [OMIM gene]
HPO term(s)
- Abnormal anterior horn cell morphology [HPO term]
- Areflexia of lower limbs [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brisk reflexes [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Difficulty walking [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Facial diplegia [HPO term]
- Feeding difficulties [HPO term]
- Fetal akinesia sequence [HPO term]
- Generalized hypotonia [HPO term]
- Hand clenching [HPO term]
- High palate [HPO term]
- Hip dysplasia [HPO term]
- Inability to walk [HPO term]
- Kyphosis [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Mutism [HPO term]
- Myopathic facies [HPO term]
- Myopia [HPO term]
- Neonatal death [HPO term]
- Paucity of anterior horn motor neurons [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Retrognathia [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Single transverse palmar crease [HPO term]
- Skeletal muscle atrophy [HPO term]
- Talipes equinovarus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Arthrogryposis-anterior horn cell disease syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis-anterior horn cell disease syndrome [ORDO Disease]
- Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) [SNOMED CT concept]
- lethal arthrogryposis with anterior horn cell disease [MeSH Supplementary Concept]
- lethal arthrogryposis with anterior horn cell disease [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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