Nestor-guillermo progeria syndrome

Preferred Label : Nestor-guillermo progeria syndrome;

Symbol : NGPS;

CISMeF acronym : NGPS; PSCOO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PSCOO; Progeria syndrome, childhood-onset, with osteolysis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the barrier-to-autointegration factor-1 gene (BANF1, 603811.0001);

Laboratory abnormalities : Very low leptin level; Low 25-OH-vitamin D level; Low fasting glucose (in some patients);

Prefixed ID : #614008;

Details

Origin ID

614008;

UMLS CUI

C3151446;

Currated CISMeF NLP mapping
- Nestor Guillermo progeria syndrome (disorder) [SNOMED CT concept]
- Nestor-Guillermo progeria syndrome [ORDO Disease]
Genes related to phenotype
- Barrier-to-autointegration factor 1 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Atherosclerosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cavum septum pellucidum [HPO term]
- Childhood onset [HPO term]
- Convex nasal ridge [HPO term]
- Decreased serum leptin [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Dry skin [HPO term]
- Dyspnea [HPO term]
- Enlarged cisterna magna [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Growth delay [HPO term]
- Hypertension [HPO term]
- Joint stiffness [HPO term]
- Left atrial enlargement [HPO term]
- Limited elbow movement [HPO term]
- Lipoatrophy [HPO term]
- Mandibular osteolysis [HPO term]
- Micrognathia [HPO term]
- Microretrognathia [HPO term]
- Midface retrusion [HPO term]
- Mitral regurgitation [HPO term]
- Nail dystrophy [HPO term]
- Osteolysis [HPO term]
- Osteolytic defects of the distal phalanges of the hand [HPO term]
- Osteoporosis [HPO term]
- Pathologic fracture [HPO term]
- Progeroid facial appearance [HPO term]
- Progressive clavicular acroosteolysis [HPO term]
- Prominent superficial veins [HPO term]
- Proptosis [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Rib osteolysis [HPO term]
- Right atrial enlargement [HPO term]
- Right bundle branch block [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Sinus tachycardia [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Spotty hyperpigmentation [HPO term]
- Thin ribs [HPO term]
- Thin vermilion border [HPO term]
- Wide cranial sutures [HPO term]
ORDO concept(s)
- Nestor-Guillermo progeria syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nestor Guillermo progeria syndrome (disorder) [SNOMED CT concept]
- Nestor-Guillermo progeria syndrome [ORDO Disease]

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