NGPS
MCID: NST002
MIFTS: 35

Nestor-Guillermo Progeria Syndrome (NGPS)

Categories: Bone diseases, Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nestor-Guillermo Progeria Syndrome

MalaCards integrated aliases for Nestor-Guillermo Progeria Syndrome:

Name: Nestor-Guillermo Progeria Syndrome 57 20 58 72 36 29 13 6 70
Ngps 57 20 58 72
Pscoo 57 20 72
Progeria Syndrome, Childhood-Onset, with Osteolysis 57 20
Progeria Syndrome, Childhood-Onset, with Osteolysis; Pscoo 57
Progeria Syndrome Childhood-Onset with Osteolysis 72
Syndrome, Progeria, Nestor-Guillermo 39

Characteristics:

Orphanet epidemiological data:

58
nestor-guillermo progeria syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities
two patients from spain have been reported (as of january 2012)


HPO:

31
nestor-guillermo progeria syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Nestor-Guillermo Progeria Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280576 Definition Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.

MalaCards based summary : Nestor-Guillermo Progeria Syndrome, also known as ngps, is related to epilepsy, and has symptoms including joint stiffness An important gene associated with Nestor-Guillermo Progeria Syndrome is BANF1 (BAF Nuclear Assembly Factor 1). Affiliated tissues include cortex and breast, and related phenotypes are failure to thrive and scoliosis

KEGG : 36 Nestor-Guillermo progeria syndrome (NGPS) is a new hereditary progeroid syndrome. The progeria syndromes appear to cause rapid aging through disruption of normal nuclear structure. They are characterized by features of normal aging such as alopecia, skin wrinkling, osteoporosis, insulin resistance, and cardiovascular disease. Numerous childhood-onset progeroid syndromes have been reported. Due to their early manifestation and fast and fatal course, most of them can be termed as acute progerias. Recently, a mutation in the BANF1 gene was identified as the genetic basis of NGPS. This mutation was described to cause instability in the BANF1 protein, causing a disruption of the nuclear envelope structure.

UniProtKB/Swiss-Prot : 72 Nestor-Guillermo progeria syndrome: An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. The atrophic facial subcutaneous fat pad and the marked osteolysis of the maxilla and mandible result in a typical pseudosenile facial appearance with micrognathia, prominent subcutaneous venous patterning, a convex nasal ridge, and proptosis. Cognitive development is completely normal. Patients do not have cardiovascular dysfunction, atherosclerosis, or metabolic anomalies.

More information from OMIM: 614008 PS176670

Related Diseases for Nestor-Guillermo Progeria Syndrome

Diseases related to Nestor-Guillermo Progeria Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy 10.0

Symptoms & Phenotypes for Nestor-Guillermo Progeria Syndrome

Human phenotypes related to Nestor-Guillermo Progeria Syndrome:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 scoliosis 31 HP:0002650
3 hypertension 31 HP:0000822
4 joint stiffness 31 HP:0001387
5 short stature 31 HP:0004322
6 flexion contracture 31 HP:0001371
7 lipoatrophy 31 HP:0100578
8 osteoporosis 31 HP:0000939
9 micrognathia 31 HP:0000347
10 dental crowding 31 HP:0000678
11 abnormality of the ribs 31 HP:0000772
12 proptosis 31 HP:0000520
13 malar flattening 31 HP:0000272
14 convex nasal ridge 31 HP:0000444
15 pulmonary arterial hypertension 31 HP:0002092
16 midface retrusion 31 HP:0011800
17 atherosclerosis 31 HP:0002621
18 right bundle branch block 31 HP:0011712
19 sparse eyelashes 31 HP:0000653
20 sinus tachycardia 31 HP:0011703
21 delayed closure of the anterior fontanelle 31 HP:0001476
22 osteolytic defects of the distal phalanges of the hand 31 HP:0009839
23 spotty hyperpigmentation 31 HP:0005585
24 progressive clavicular acroosteolysis 31 HP:0000905
25 wide cranial sutures 31 HP:0010537
26 abnormality of the forearm 31 HP:0002973
27 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Growth Height:
short stature

Head And Neck Teeth:
dental crowding

Head And Neck Nose:
convex nasal ridge

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
scalp hair sparse to absent, beginning in second decade of life

Skeletal Skull:
delayed closure of anterior fontanel
widely open cranial sutures

Head And Neck Mouth:
restricted opening of mouth

Respiratory Lung:
dyspnea on exertion (secondary to scoliosis, in some patients)

Skeletal Limbs:
mobility restriction of elbows and knees
osteolysis of radii

Muscle Soft Tissue:
lipoatrophy, generalized

Skeletal Spine:
scoliosis

Head And Neck Face:
micrognathia
midface hypoplasia
mandibular osteolysis

Head And Neck Eyes:
proptosis
sparse eyelashes
sparse eyebrows

Cardiovascular Heart:
right bundle branch block
sinus tachycardia

Skeletal:
joint contractures
stiff joints
osteoporosis, severe
osteolysis, severe (of mandible, clavicles, ribs, distal phalanges, and radii)

Skin Nails Hair Skin:
patchy hyperpigmentation

Cardiovascular Vascular:
prominent subcutaneous venous patterning
pulmonary hypertension (secondary to scoliosis, in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
osteolysis of clavicles
osteolysis of ribs

Skeletal Hands:
mobility restriction of hands and fingers
osteolysis of distal phalanges

Laboratory Abnormalities:
very low leptin level
low 25-oh-vitamin d level
low fasting glucose (in some patients)

Clinical features from OMIM®:

614008 (Updated 20-May-2021)

UMLS symptoms related to Nestor-Guillermo Progeria Syndrome:


joint stiffness

Drugs & Therapeutics for Nestor-Guillermo Progeria Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Placebo-Controlled, Double-blind, Parallel-Group, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Orally-administered NGP 555 in Healthy Subjects Completed NCT02537938 Phase 1 NGP 555
2 A Randomized, Placebo-Controlled, Double-Blind, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Orally-administered NGP 555 in Healthy Young Volunteers Completed NCT02534480 Phase 1 NGP 555
3 Next Generation Probiotics (NGPs) for Metabolic Health - Metagenomic Analysis to Identify NGP Candidates Correlated With Body Weight or Metabolic Markers Completed NCT04229082

Search NIH Clinical Center for Nestor-Guillermo Progeria Syndrome

Genetic Tests for Nestor-Guillermo Progeria Syndrome

Genetic tests related to Nestor-Guillermo Progeria Syndrome:

# Genetic test Affiliating Genes
1 Nestor-Guillermo Progeria Syndrome 29 BANF1

Anatomical Context for Nestor-Guillermo Progeria Syndrome

MalaCards organs/tissues related to Nestor-Guillermo Progeria Syndrome:

40
Cortex, Breast

Publications for Nestor-Guillermo Progeria Syndrome

Articles related to Nestor-Guillermo Progeria Syndrome:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. 6 57
21549337 2011
2
Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. 57 61
21932319 2011
3
Electrochemical Impedance Spectroscopy Biosensor Enabling Kinetic Monitoring of Fucosyltransferase Activity. 61
33595293 2021
4
Neuronal guidance proteins in cardiovascular inflammation. 61
33511463 2021
5
Newly Explored Faecalibacterium Diversity Is Connected to Age, Lifestyle, Geography, and Disease. 61
33065016 2020
6
Exploring the Twitter activity around the eighth meeting of the Conference of the Parties to the WHO Framework Convention on Tobacco Control. 61
33177210 2020
7
An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood. 61
32783369 2020
8
Naringenin-Loaded Dipalmitoylphosphatidylcholine Phytosome Dry Powders for Inhaled Treatment of Acute Lung Injury. 61
32176552 2020
9
Metabolomics analysis and metabolite-agronomic trait associations using kernels of wheat (Triticum aestivum) recombinant inbred lines. 61
32073701 2020
10
Background Point Filtering of Low-Channel Infrastructure-Based LiDAR Data Using a Slice-Based Projection Filtering Algorithm. 61
32481575 2020
11
Mosaic Heterochrony in Neural Progenitors Sustains Accelerated Brain Growth and Neurogenesis in the Juvenile Killifish N. furzeri. 61
32004451 2020
12
Evolving trends in next-generation probiotics: a 5W1H perspective. 61
31062600 2020
13
Barrier-to-autointegration factor 1 (Banf1) regulates poly [ADP-ribose] polymerase 1 (PARP1) activity following oxidative DNA damage. 61
31796734 2019
14
Straightforward and Highly Efficient Strategy for Hepatocellular Carcinoma Glycoprotein Biomarker Discovery Using a Nonglycopeptide-Based Mass Spectrometry Pipeline. 61
31453685 2019
15
Looking Back and Ahead: The Food and Drug Administration's Regulation of the Tobacco Industry and Next-Generation Products. 61
31538803 2019
16
An inter-laboratory in vitro assessment of cigarettes and next generation nicotine delivery products. 61
31400404 2019
17
Influence of the culture conditions on the production of NGPs by Aspergillus tubingensis. 61
31216791 2019
18
An endocytic-secretory cycle participates in Toxoplasma gondii in motility. 61
31233488 2019
19
Influence of machine-based puffing parameters on aerosol and smoke emissions from next generation nicotine inhalation products. 61
30445136 2019
20
Low-moisture food matrices as probiotic carriers. 61
30629190 2019
21
Hyperglycemia differentially affects proliferation, apoptosis, and BNIP3 and p53 mRNA expression of human umbilical cord Wharton's jelly cells from non-diabetic and diabetic pregnancies. 61
30554659 2019
22
Co-delivery of glycyrrhizin and doxorubicin by alginate nanogel particles attenuates the activation of macrophage and enhances the therapeutic efficacy for hepatocellular carcinoma. 61
31534548 2019
23
Analysis of Leishmania mimetic neoglycoproteins for the cutaneous leishmaniasis diagnosis. 61
29806570 2018
24
Anti-α-Gal antibodies detected by novel neoglycoproteins as a diagnostic tool for Old World cutaneous leishmaniasis caused by Leishmania major. 61
29898796 2018
25
Genipin-crosslinked carboxymethyl chitosan nanogel for lung-targeted delivery of isoniazid and rifampin. 61
30007629 2018
26
Assessment of enamel discoloration in vitro following exposure to cigarette smoke and emissions from novel vapor and tobacco heating products. 61
30346667 2018
27
Contracting out to improve the use of clinical health services and health outcomes in low- and middle-income countries. 61
29611869 2018
28
Characterisation of the borgwaldt LM4E system for in vitro exposures to undiluted aerosols from next generation tobacco and nicotine products (NGPs). 61
29421647 2018
29
Assessment of tobacco heating product THP1.0. Part 9: The placement of a range of next-generation products on an emissions continuum relative to cigarettes via pre-clinical assessment studies. 61
29080852 2018
30
An α-Gal-containing neoglycoprotein-based vaccine partially protects against murine cutaneous leishmaniasis caused by Leishmania major. 61
29069089 2017
31
Immunomodulatory Functions of Neuronal Guidance Proteins. 61
28438491 2017
32
N-acetyl glucosamine and proteoglycan containing supplement improves the locomotor functions of subjects with knee pain. 61
28757514 2017
33
Neural pattern similarity underlies the mnemonic advantages for living words. 61
27093349 2016
34
Neural Global Pattern Similarity Underlies True and False Memories. 61
27335409 2016
35
Dataset of mitochondrial genome variants associated with asymptomatic atherosclerosis. 61
27222855 2016
36
Swift Heavy Ion Irradiation as a Tool for Homogeneous Dispersion of Nanographite Platelets within the Polymer Matrices: Toward Tailoring the Properties of PEDOT:PSS/Nanographite Nanocomposites. 61
26982328 2016
37
Barrier-to-autointegration factor (BAF) involvement in prelamin A-related chromatin organization changes. 61
26701887 2016
38
Nitrogen Doping Enables Covalent-Like π-π Bonding between Graphenes. 61
26151153 2015
39
Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida. 61
24735105 2015
40
Fungal naphtho-γ-pyrones--secondary metabolites of industrial interest. 61
25520172 2015
41
Néstor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation. 61
25495845 2014
42
Amplified and selective assay of collagens by enzymatic and fluorescent reactions. 61
24821501 2014
43
Cell response of nanographene platelets to human osteoblast-like MG63 cells. 61
23589384 2014
44
Comparing graphene, carbon nanotubes, and superfine powdered activated carbon as adsorptive coating materials for microfiltration membranes. 61
23911830 2013
45
Possible roles of barrier-to-autointegration factor 1 in regulation of keratinocyte differentiation and proliferation. 61
23664529 2013
46
"Nanogold detoxifying machine" to remove idle nanogold particles from blood stream of cancer patients treated with antibody-nanogold therapeutics. 61
23462370 2013
47
An inherited LMNA gene mutation in atypical Progeria syndrome. 61
22991222 2012
48
Thermal characterization of polyamide 11/nanographene platelet nanocomposites. 61
22754983 2012
49
The axonal guidance receptor neogenin promotes acute inflammation. 61
22412855 2012
50
Cell autonomous and systemic factors in progeria development. 61
22103512 2011

Variations for Nestor-Guillermo Progeria Syndrome

ClinVar genetic disease variations for Nestor-Guillermo Progeria Syndrome:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BANF1 NM_003860.4(BANF1):c.34G>A (p.Ala12Thr) SNV Pathogenic 30390 rs387906871 GRCh37: 11:65770755-65770755
GRCh38: 11:66003284-66003284
2 BANF1 NM_003860.4(BANF1):c.*64T>A SNV Uncertain significance 305407 rs886048517 GRCh37: 11:65771307-65771307
GRCh38: 11:66003836-66003836
3 BANF1 NM_003860.4(BANF1):c.-70T>G SNV Uncertain significance 305404 rs35208625 GRCh37: 11:65769988-65769988
GRCh38: 11:66002517-66002517
4 BANF1 , EIF1AD NM_001242481.2(EIF1AD):c.-308C>G SNV Uncertain significance 305393 rs886048512 GRCh37: 11:65769572-65769572
GRCh38: 11:66002101-66002101
5 BANF1 NM_001143985.1(BANF1):c.-230C>T SNV Uncertain significance 305399 rs781260209 GRCh37: 11:65769771-65769771
GRCh38: 11:66002300-66002300
6 BANF1 NM_003860.4(BANF1):c.-62A>G SNV Uncertain significance 305405 rs886048516 GRCh37: 11:65769996-65769996
GRCh38: 11:66002525-66002525
7 BANF1 NM_001143985.1(BANF1):c.-86G>A SNV Uncertain significance 305402 rs886048514 GRCh37: 11:65769915-65769915
GRCh38: 11:66002444-66002444
8 BANF1 NM_003860.4(BANF1):c.*209T>G SNV Uncertain significance 305411 rs886048519 GRCh37: 11:65771452-65771452
GRCh38: 11:66003981-66003981
9 BANF1 NM_003860.4(BANF1):c.*120T>A SNV Uncertain significance 305408 rs886048518 GRCh37: 11:65771363-65771363
GRCh38: 11:66003892-66003892
10 BANF1 , EIF1AD NM_001242481.2(EIF1AD):c.-316C>T SNV Uncertain significance 305394 rs886048513 GRCh37: 11:65769580-65769580
GRCh38: 11:66002109-66002109
11 BANF1 NM_003860.4(BANF1):c.9C>T (p.Thr3=) SNV Uncertain significance 305406 rs150372514 GRCh37: 11:65770730-65770730
GRCh38: 11:66003259-66003259
12 BANF1 NM_001143985.1(BANF1):c.-35A>T SNV Uncertain significance 305403 rs886048515 GRCh37: 11:65769966-65769966
GRCh38: 11:66002495-66002495
13 BANF1 , EIF1AD NM_001242481.2(EIF1AD):c.-322_-321dup Duplication Uncertain significance 305395 rs373907315 GRCh37: 11:65769584-65769585
GRCh38: 11:66002113-66002114
14 BANF1 , EIF1AD NM_001242481.2(EIF1AD):c.-297T>C SNV Uncertain significance 305392 rs886048511 GRCh37: 11:65769561-65769561
GRCh38: 11:66002090-66002090
15 BANF1 NM_003860.4(BANF1):c.*143T>A SNV Uncertain significance 877795 GRCh37: 11:65771386-65771386
GRCh38: 11:66003915-66003915
16 BANF1 NM_003860.4(BANF1):c.*182T>C SNV Uncertain significance 877796 GRCh37: 11:65771425-65771425
GRCh38: 11:66003954-66003954
17 BANF1 NM_001143985.1(BANF1):c.-105G>A SNV Uncertain significance 879758 GRCh37: 11:65769896-65769896
GRCh38: 11:66002425-66002425
18 BANF1 NM_003860.4(BANF1):c.-60C>T SNV Uncertain significance 879759 GRCh37: 11:65769998-65769998
GRCh38: 11:66002527-66002527
19 BANF1 NM_001143985.1(BANF1):c.-297G>A SNV Likely benign 305397 rs141605220 GRCh37: 11:65769704-65769704
GRCh38: 11:66002233-66002233
20 BANF1 NM_001143985.1(BANF1):c.-254G>T SNV Likely benign 305398 rs78790365 GRCh37: 11:65769747-65769747
GRCh38: 11:66002276-66002276
21 BANF1 NM_003860.4(BANF1):c.*273C>G SNV Likely benign 305412 rs142270527 GRCh37: 11:65771516-65771516
GRCh38: 11:66004045-66004045
22 BANF1 NM_003860.4(BANF1):c.*100C>T SNV Likely benign 877794 GRCh37: 11:65771343-65771343
GRCh38: 11:66003872-66003872
23 BANF1 , EIF1AD NM_001242481.2(EIF1AD):c.-329G>A SNV Likely benign 305396 rs117774800 GRCh37: 11:65769593-65769593
GRCh38: 11:66002122-66002122
24 BANF1 NM_001143985.1(BANF1):c.-221T>G SNV Benign 305400 rs14157 GRCh37: 11:65769780-65769780
GRCh38: 11:66002309-66002309
25 BANF1 NM_003860.4(BANF1):c.*128C>A SNV Benign 305409 rs144367403 GRCh37: 11:65771371-65771371
GRCh38: 11:66003900-66003900
26 BANF1 NM_001143985.1(BANF1):c.-192G>C SNV Benign 305401 rs1786171 GRCh37: 11:65769809-65769809
GRCh38: 11:66002338-66002338
27 BANF1 NM_003860.4(BANF1):c.*177G>A SNV Benign 305410 rs148797275 GRCh37: 11:65771420-65771420
GRCh38: 11:66003949-66003949
28 BANF1 NM_003860.4(BANF1):c.204C>T (p.Gly68=) SNV Benign 790644 rs140057395 GRCh37: 11:65771177-65771177
GRCh38: 11:66003706-66003706

UniProtKB/Swiss-Prot genetic disease variations for Nestor-Guillermo Progeria Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 BANF1 p.Ala12Thr VAR_065954 rs387906871

Expression for Nestor-Guillermo Progeria Syndrome

Search GEO for disease gene expression data for Nestor-Guillermo Progeria Syndrome.

Pathways for Nestor-Guillermo Progeria Syndrome

GO Terms for Nestor-Guillermo Progeria Syndrome

Sources for Nestor-Guillermo Progeria Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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