Nestor-Guillermo progeria syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS
NGPS
PSCOO
Number of Symptoms 45
OrphanetNr: 280576
OMIM Id: 614008
ICD-10: E34.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic progeroid syndrome
 -Rare genetic disease
Premature aging
 -Rare genetic disease
 -Rare skin disease
Primary osteolysis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000653) Sparse eyelashes 58 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000444) Convex nasal ridge 87 / 7739
4
 (HPO:0011800) Midface retrusion 221 / 7739
5
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
6
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
7
 (HPO:0000678) Dental crowding 65 / 7739
8
 (HPO:0000520) Proptosis 192 / 7739
9
 (HPO:0010537) Wide cranial sutures 21 / 7739
10
 (HPO:0000272) Malar flattening 277 / 7739
11
 (HPO:0000939) Osteoporosis 129 / 7739
12
 (HPO:0001371) Flexion contracture 220 / 7739
13
 (HPO:0005897) Severe generalized osteoporosis 4 / 7739
14
 (HPO:0000772) Abnormality of the ribs 146 / 7739
15
 (HPO:0001387) Joint stiffness 322 / 7739
16
 (HPO:0002973) Abnormality of the forearm 3 / 7739
17
 (HPO:0009839) Osteolytic defects of the distal phalanges of the hand 6 / 7739
18
 (HPO:0000905) Progressive clavicular acroosteolysis 4 / 7739
19
 (HPO:0002650) Scoliosis 705 / 7739
20
 (HPO:0004322) Short stature 1232 / 7739
21
 (HPO:0001508) Failure to thrive 454 / 7739
22
 (HPO:0005585) Spotty hyperpigmentation 8 / 7739
23
 (HPO:0002092) Pulmonary hypertension 109 / 7739
24
 (HPO:0011703) Sinus tachycardia 5 / 7739
25
 (HPO:0002621) Atherosclerosis 33 / 7739
26
 (HPO:0011712) Right bundle branch block 34 / 7739
27
 (HPO:0100578) Lipoatrophy 30 / 7739
28
 (OMIM) Scalp hair sparse to absent, beginning in second decade of life 1 / 7739
29
 (OMIM) Osteolysis of distal phalanges 1 / 7739
30
 (OMIM) Osteolysis of ribs 1 / 7739
31
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
 (OMIM) Generalized lipoatrophy 2 / 7739
33
 (OMIM) Osteolysis of radii 1 / 7739
34
 (OMIM) Restricted opening of mouth 1 / 7739
35
 (OMIM) Widely open cranial sutures 1 / 7739
36
 (OMIM) Osteolysis of clavicles 1 / 7739
37
 (OMIM) Very low leptin level 1 / 7739
38
 (OMIM) Mobility restriction of elbows and knees 1 / 7739
39
 (OMIM) Dyspnea on exertion (secondary to scoliosis, in some patients) 1 / 7739
40
 (OMIM) Prominent subcutaneous venous patterning 1 / 7739
41
 (OMIM) Mandibular osteolysis 1 / 7739
42
 (OMIM) Low 25-OH-vitamin D level 1 / 7739
43
 (OMIM) Osteolysis, severe (of mandible, clavicles, ribs, distal phalanges, and radii) 1 / 7739
44
 (OMIM) Mobility restriction of hands and fingers 1 / 7739
45
 (OMIM) Low fasting glucose (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puente et al. (2011) studied a consanguineous Spanish family in which the 31-year-old male proband exhibited an atypical form of progeria. Born to third-cousin healthy parents, the proband showed normal development until 2 years of age, when he ...
Molecular genetics OMIM In a consanguineous Spanish family in which the proband had an atypical progeroid syndrome, Puente et al. (2011) analyzed 4 candidate genes and identified homozygosity for a missense mutation in the BANF1 gene (A12T; 603811.0001) on chromosome 11 ...