Ehlers-danlos syndrome, kyphoscoliotic type, 1

Preferred Label : Ehlers-danlos syndrome, kyphoscoliotic type, 1;

Symbol : EDSKSCL1;

CISMeF acronym : EDSKSCL1; EDS6A; EDS6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nevo syndrome; EDS6; Eds VI; Ehlers-danlos syndrome, type VI; Ehlers-danlos syndrome, ocular-scoliotic type; Ehlers-danlos syndrome, type via; EDS6A;

Description : The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998). Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.' The major characteristics of EDS VI are severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe (Beighton et al., 1998). Nevo syndrome, previously thought to be a distinct entity, is identical to EDS type VI (Voermans et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase gene (PLOD, 153454.0001);

Laboratory abnormalities : Lysyl hydroxylase deficiency; Decreased dermal hydroxylysine content;

Prefixed ID : #225400;

Details

Origin ID

225400;

UMLS CUI

C0268342;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome VI phenotype with macrocephaly [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome kyphoscoliotic type 1 [DO Concept]
- Ehlers-Danlos syndrome, kyphoscoliotic type [ICD-11 More detail]
- Kyphoscoliotic Ehlers-Danlos syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type VI [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VI [NCIt concept]
- Ehlers-Danlos syndrome type 6 [MeSH concept]
- Ehlers-Danlos syndrome type 6 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) [SNOMED CT concept]
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [ORDO Disease]
- ehlers-danlos syndrome, hydroxylysine-deficient [SNOMED Notion]
DO Cross reference
- Ehlers-Danlos syndrome kyphoscoliotic type 1 [DO Concept]
Genes related to phenotype
- Procollagen-lysine, 2-oxoglutarate 5-dioxygenase [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Arterial rupture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bladder diverticulum [HPO term]
- Blindness [HPO term]
- Blue sclerae [HPO term]
- Bruising susceptibility [HPO term]
- Congenital hip dislocation [HPO term]
- Congestive heart failure [HPO term]
- Decreased fetal movement [HPO term]
- Decreased pulmonary function [HPO term]
- Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio [HPO term]
- Delayed ability to walk [HPO term]
- Delayed gross motor development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate tall stature [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Excessive wrinkled skin [HPO term]
- Excessive wrinkled skin (palms and soles) [HPO term]
- Flattened nasal bridge [HPO term]
- Follicular hyperkeratosis [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Glaucoma [HPO term]
- Hyperextensible skin [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Joint dislocation [HPO term]
- Joint laxity [HPO term]
- Keratoconus [HPO term]
- Kyphoscoliosis [HPO term]
- Microcornea [HPO term]
- Molluscoid pseudotumors [HPO term]
- Muscle weakness [HPO term]
- Myopia [HPO term]
- Normal to tall stature [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Poor wound healing [HPO term]
- Premature rupture of membranes [HPO term]
- Progressive congenital scoliosis [HPO term]
- Protrusio acetabuli [HPO term]
- Ptosis [HPO term]
- Recurrent pneumonia [HPO term]
- Respiratory insufficiency [HPO term]
- Retinal detachment [HPO term]
- Soft skin [HPO term]
- Soft, thin skin [HPO term]
- Talipes equinovarus [HPO term]
- Tall stature [HPO term]
- Thin ribs [HPO term]
- Thin skin [HPO term]
ORDO concept(s)
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers Danlos syndrome type VI [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VI [NCIt concept]
- Ehlers-Danlos syndrome type 6 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 6 [MeSH concept]
- Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) [SNOMED CT concept]
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [ORDO Disease]
- brittle cornea syndrome 1 [DO Concept]
- ehlers-danlos syndrome, hydroxylysine-deficient [SNOMED Notion]

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