Kowarski syndrome

Preferred Label : Kowarski syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin; Biodefective growth hormone;

Description : Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005).;

Inheritance : Autosomal recessive;

Prefixed ID : #262650;

Détails

Origin ID

262650;

UMLS CUI

C1849779;

Automatic exact mappings (from CISMeF team)
- Short stature due to growth hormone qualitative anomaly [ICD-11 More detail]
Currated CISMeF NLP mapping
- Kowarski syndrome [MeSH concept]
- Short stature due to growth hormone qualitative anomaly [ORDO Disease]
- kowarski syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Growth hormone 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed skeletal maturation [HPO term]
- Growth delay [HPO term]
- Pituitary dwarfism [HPO term]
ORDO concept(s)
- Non-acquired isolated growth hormone deficiency [ORDO Disease]
- Short stature due to growth hormone qualitative anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kowarski syndrome [MeSH concept]
- Short stature due to growth hormone qualitative anomaly [ORDO Disease]
- kowarski syndrome [MeSH Supplementary Concept]

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

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