Lethal congenital contracture syndrome 1

Preferred Label : Lethal congenital contracture syndrome 1;

Symbol : LCCS1;

CISMeF acronym : LCCS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple contracture syndrome, finnish type; LCCS;

Description : Autosomal recessive lethal congenital contractural syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108110), a disorder characterized by congenital nonprogressive 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 (summary by Markus et al., 2012). - Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); and LCCS5 (615368), caused by mutation in the DNM2 gene (602378).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the Gle1, (S. cerevisiae) RNA export mediator gene (GLE1, 603371.0001);

Prefixed ID : #253310;

Détails

Origin ID

253310;

UMLS CUI

C1854664;

Currated CISMeF NLP mapping
- Lethal congenital contracture syndrome 1 [MeSH concept]
- Lethal congenital contracture syndrome type 1 [ORDO Disease]
- Lethal congenital contracture syndrome type 1 (disorder) [SNOMED CT concept]
- lethal congenital contracture syndrome 1 [DO Concept]
- lethal congenital contracture syndrome 1 [MeSH Supplementary Concept]
DO Cross reference
- lethal congenital contracture syndrome 1 [DO Concept]
Genes related to phenotype
- Gle1, rna export mediator [OMIM gene]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Abnormality of the amniotic fluid [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Edema [HPO term]
- Hypoplasia of the musculature [HPO term]
- Micrognathia [HPO term]
- Neonatal death [HPO term]
- Paucity of anterior horn motor neurons [HPO term]
- Pulmonary hypoplasia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Widening of cervical spinal canal [HPO term]
ORDO concept(s)
- Lethal congenital contracture syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal congenital contracture syndrome 1 [MeSH concept]
- Lethal congenital contracture syndrome type 1 [ORDO Disease]
- Lethal congenital contracture syndrome type 1 (disorder) [SNOMED CT concept]
- lethal congenital contracture syndrome 1 [MeSH Supplementary Concept]
- lethal congenital contracture syndrome 1 [DO Concept]
Validated automatic mappings to NTBT
- Lethal congenital contracture syndrome [ORDO Disease]

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

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