Fontaine progeroid syndrome

Preferred Label : Fontaine progeroid syndrome;

Symbol : FPS;

CISMeF acronym : FPS; GCMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progeroid syndrome, congenital, petty type; GCMS; Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence; Gorlin-chaudhry-moss syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 gene (SLC25A24, 608744.0001);

Prefixed ID : #612289;

Détails

Origin ID

612289;

UMLS CUI

C2676780;

Automatic exact mappings (from CISMeF team)
- FDPS wt Allele [NCIt concept]
- FES proto-oncogene, tyrosine kinase [HGNC gene]
- FES wt Allele [NCIt concept]
- Frames Per Second [NCIt concept]
- Gorlin-Chaudhry-Moss syndrome [ICD-11 More detail]
- Gorlin-Chaudhry-Moss syndrome (disorder) [SNOMED CT concept]
- Oncogene FPS-FES [NCIt concept]
- Petty Laxova Wiedemann syndrome [MeSH concept]
- Progeroid syndrome Petty type (disorder) [SNOMED CT concept]
- Progeroid syndrome, Petty type [ORDO Disease]
- gas chromatography-mass spectrometry [MeSH Descriptor]
- sn-glycerol-3-phosphate 2-alpha-galactosyltransferase activity [GO term]
Currated CISMeF NLP mapping
- progeroid syndrome, congenital, petty type [MeSH concept]
- progeroid syndrome, congenital, petty type [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Absent distal phalanges [HPO term]
- Absent nipple [HPO term]
- Anonychia [HPO term]
- Anteriorly placed anus [HPO term]
- Aortic aneurysm [HPO term]
- Aplastic/hypoplastic lacrimal glands [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Coarse hair [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Convex nasal ridge [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Death in infancy [HPO term]
- Deep palmar crease [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Dermal translucency [HPO term]
- Downslanted palpebral fissures [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Gray matter heterotopia [HPO term]
- High, narrow palate [HPO term]
- Hydrocephalus [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the abdominal wall musculature [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypoplastic nipples [HPO term]
- Intrauterine growth retardation [HPO term]
- Left ventricular hypertrophy [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Muscle weakness [HPO term]
- Narrow mouth [HPO term]
- Neonatal death [HPO term]
- Oligodontia [HPO term]
- Oligohydramnios [HPO term]
- Patent ductus arteriosus [HPO term]
- Periventricular heterotopia [HPO term]
- Platyspondyly [HPO term]
- Pneumothorax [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature skin wrinkling [HPO term]
- Prematurely aged appearance [HPO term]
- Prominent superficial veins [HPO term]
- Proptosis [HPO term]
- Protruding tongue [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary hypoplasia [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Redundant skin [HPO term]
- Respiratory insufficiency [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Small nail [HPO term]
- Small scrotum [HPO term]
- Smooth philtrum [HPO term]
- Sparse scalp hair [HPO term]
- Syndactyly [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Tricuspid regurgitation [HPO term]
- Turricephaly [HPO term]
- Umbilical hernia [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Gorlin-Chaudhry-Moss syndrome [ORDO Disease]
- Progeroid syndrome, Petty type [ORDO Disease]
See also inter- (CISMeF)
- Gorlin-Chaudhry-Moss syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gorlin-Chaudhry-Moss syndrome (disorder) [SNOMED CT concept]
- Progeroid syndrome Petty type (disorder) [SNOMED CT concept]
- progeroid syndrome, congenital, petty type [MeSH Supplementary Concept]
- progeroid syndrome, congenital, petty type [MeSH concept]

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