Ehlers-danlos syndrome, spondylodysplastic type, 1

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

Symbol : EDSSPD1;

CISMeF acronym : EDSP1; EDSSLA; EDSSPD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ehlers-danlos syndrome with short stature and limb anomalies; EDSSLA; Xgpt deficiency; Ehlers-danlos syndrome, progeroid type, 1; EDSP1; Xylosylprotein 4-beta-galactosyltransferase deficiency; Dermatan sulfate proteoglycan; Proteodermatan sulfate, defective biosynthesis of; Pds, defective biosynthesis of; Galactosyltransferase I deficiency;

Description : The features of the progeroid form of Ehlers-Danlos syndrome include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). - Genetic Heterogeneity of the Progeroid Type of Ehlers-Danlos Syndrome See EDSP2 (615349), caused by mutation in the B3GALT6 gene (615349).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the xylosylprotein 4-beta-galactosyltransferase, polypeptide 7 gene (B4GALT7, 604327.0001);

Laboratory abnormalities : Galactosyltransferase I deficiency in fibroblasts;

Prefixed ID : #130070;

Details

Origin ID

130070;

UMLS CUI

C4552003;

Automatic exact mappings (from CISMeF team)
- tn syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome progeroid type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome spondylodysplastic type 1 [DO Concept]
- Ehlers-Danlos syndrome spondylodysplastic type 2 [DO Concept]
- Ehlers-Danlos syndrome, progeroid form [MeSH concept]
- Ehlers-Danlos syndrome, progeroid form [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, progeroid type [ICD-11 More detail]
- progeroid form Ehlers Danlos syndrome [Disease (Nov.)]
DO Cross reference
- Ehlers-Danlos syndrome spondylodysplastic type 1 [DO Concept]
False automatic mappings
- dermatan sulfate proteoglycan [MeSH concept]
- dermatan sulfate proteoglycan [MeSH Supplementary Concept]
Genes related to phenotype
- Beta-1,4-galactosyltransferase 7 [OMIM gene]
HPO term(s)
- Absent earlobe [HPO term]
- Accelerated skeletal maturation [HPO term]
- Arachnodactyly [HPO term]
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Blue sclerae [HPO term]
- Bowing of the long bones [HPO term]
- Broad forehead [HPO term]
- Cleft palate [HPO term]
- Coxa valga [HPO term]
- Craniosynostosis [HPO term]
- Dislocated radial head [HPO term]
- Failure to thrive [HPO term]
- Flared metaphysis [HPO term]
- Flat face [HPO term]
- Flat forehead [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Genu recurvatum [HPO term]
- Hyperextensible skin [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Joint dislocation [HPO term]
- Joint laxity [HPO term]
- Long toe [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Mild global developmental delay [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Narrow mouth [HPO term]
- Osteopenia [HPO term]
- Palmoplantar cutis gyrata [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Phalangeal dislocation [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Recurrent fractures [HPO term]
- Scoliosis [HPO term]
- Short clavicles [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Slender toe [HPO term]
- Small face [HPO term]
- Sparse scalp hair [HPO term]
- Talipes equinovalgus [HPO term]
- Talipes equinovarus [HPO term]
- Thin, atrophic scars [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome progeroid type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome spondylodysplastic type 2 [DO Concept]
- Ehlers-Danlos syndrome, progeroid form [MeSH concept]
- Ehlers-Danlos syndrome, progeroid form [MeSH Supplementary Concept]

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