Stuve-wiedemann syndrome 1

Preferred Label : Stuve-wiedemann syndrome 1;

Symbol : STWS1;

CISMeF acronym : SJS2; SWS; STWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SWS; Schwartz-jampel syndrome, type 2; Schwartz-jampel syndrome, neonatal; Stuve-wiedemann/schwartz-jampel type 2 syndrome; SJS2; STWS;

Description : Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36.1-p34.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the leukemia inhibitory factor receptor gene (LIFR, 151443.0001);

Prefixed ID : #601559;

Détails

Origin ID

601559;

UMLS CUI

C5676888;

Automatic exact mappings (from CISMeF team)
- GNAQ wt Allele [NCIt concept]
- LIFR wt Allele [NCIt concept]
- Sturge-Weber Syndrome [NCIt concept]
- Sturge-Weber syndrome [ORDO Disease]
- Sturge-Weber syndrome [DO Concept]
- patatin like phospholipase domain containing 6 [ORDO Gene]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Stuve Wiedemann syndrome [Disease (Nov.)]
- Stuve-Wiedemann dysplasia (disorder) [SNOMED CT concept]
- Stuve-Wiedemann syndrome [MeSH concept]
- Stuve-Wiedemann syndrome [MeSH Supplementary Concept]
- Stüve-Wiedemann syndrome [ICD-11 More detail]
- Stüve-Wiedemann syndrome [ORDO Disease]
Genes related to phenotype
- Leukemia inhibitory factor receptor [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormal dental enamel morphology [HPO term]
- Abnormal metaphyseal trabeculation [HPO term]
- Absent patellar reflexes [HPO term]
- Adducted thumb [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blotching pigmentation of the skin [HPO term]
- Bowing of the long bones [HPO term]
- Broad ischia [HPO term]
- Congenital bowing of the long bones [HPO term]
- Contracture of the proximal interphalangeal joint of the 5th finger [HPO term]
- Corneal opacity [HPO term]
- Dysphagia [HPO term]
- Elbow flexion contracture [HPO term]
- Enlarged joints [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Femoral bowing [HPO term]
- Flared irregular metaphyses [HPO term]
- Flared metaphysis [HPO term]
- Flexion contracture of toe [HPO term]
- Flexion contractures of the toes [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Genu varus [HPO term]
- Hoarse voice [HPO term]
- Hypernasal speech [HPO term]
- Hypoplastic iliac body [HPO term]
- Hypotonia [HPO term]
- Impaired pain sensation [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Metaphyseal rarefaction [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Myotonia [HPO term]
- Nasal speech [HPO term]
- Opacification of the corneal stroma [HPO term]
- Osteoporosis [HPO term]
- Pathologic fracture [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary arterial medial hypertrophy [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pursed lips [HPO term]
- Radiolucent metaphyses have abnormal trabecular pattern [HPO term]
- Recurrent fever [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short tibia [HPO term]
- Single transverse palmar crease [HPO term]
- Smooth tongue [HPO term]
- Square face [HPO term]
- Talipes [HPO term]
- Talipes valgus [HPO term]
- Thickened cortex of long bones [HPO term]
- Thin ribs [HPO term]
- Thin skin [HPO term]
- Tibial bowing [HPO term]
- Ulnar deviation of finger [HPO term]
- Wide nasal base [HPO term]
- camptodactyly with ulnar deviation [HPO term]
- hypertrophy of the pulmonary artery wall [HPO term]
- short, slender long bones [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Stüve-Wiedemann syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stuve-Wiedemann syndrome [MeSH Supplementary Concept]
- Stuve-Wiedemann syndrome [MeSH concept]

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

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