NGPS
MCID: NST002
MIFTS: 29

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 58 54 60 76 38 30 13 6 74
Ngps 58 54 60 76
Pscoo 58 54 76
Progeria Syndrome, Childhood-Onset, with Osteolysis 58 54
Progeria Syndrome, Childhood-Onset, with Osteolysis; Pscoo 58
Progeria Syndrome Childhood-Onset with Osteolysis 76
Syndrome, Progeria, Nestor-Guillermo 41

Characteristics:

Orphanet epidemiological data:

60
nestor-guillermo progeria syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
nestor-guillermo progeria syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nestor-Guillermo Progeria Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 280576Disease definitionNestor-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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Nestor-Guillermo Progeria Syndrome, also known as ngps, is related to prostate cancer and epilepsy, and has symptoms including joint stiffness An important gene associated with Nestor-Guillermo Progeria Syndrome is BANF1 (Barrier To Autointegration Factor 1). Affiliated tissues include bone, eye and skin, and related phenotypes are malar flattening and hypertension

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 614008

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 prostate cancer 11.1
2 epilepsy 10.1

Symptoms & Phenotypes for Nestor-Guillermo Progeria Syndrome

Human phenotypes related to Nestor-Guillermo Progeria Syndrome:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 hypertension 33 HP:0000822
3 failure to thrive 33 HP:0001508
4 scoliosis 33 HP:0002650
5 joint stiffness 33 HP:0001387
6 short stature 33 HP:0004322
7 flexion contracture 33 HP:0001371
8 osteoporosis 33 HP:0000939
9 lipoatrophy 33 HP:0100578
10 micrognathia 33 HP:0000347
11 pulmonary arterial hypertension 33 HP:0002092
12 dental crowding 33 HP:0000678
13 abnormality of the ribs 33 HP:0000772
14 midface retrusion 33 HP:0011800
15 convex nasal ridge 33 HP:0000444
16 proptosis 33 HP:0000520
17 atherosclerosis 33 HP:0002621
18 spotty hyperpigmentation 33 HP:0005585
19 right bundle branch block 33 HP:0011712
20 sparse eyelashes 33 HP:0000653
21 sinus tachycardia 33 HP:0011703
22 osteolytic defects of the distal phalanges of the hand 33 HP:0009839
23 delayed closure of the anterior fontanelle 33 HP:0001476
24 wide cranial sutures 33 HP:0010537
25 progressive clavicular acroosteolysis 33 HP:0000905
26 sparse and thin eyebrow 33 HP:0000535
27 abnormality of the forearm 33 HP:0002973

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Growth Height:
short stature

Head And Neck Teeth:
dental crowding

Head And Neck Eyes:
proptosis
sparse eyelashes
sparse eyebrows

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 Nose:
convex nasal ridge

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

UMLS symptoms related to Nestor-Guillermo Progeria Syndrome:


joint stiffness

Drugs & Therapeutics for Nestor-Guillermo Progeria Syndrome

Search Clinical Trials , 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 30 BANF1

Anatomical Context for Nestor-Guillermo Progeria Syndrome

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

42
Bone, Eye, Skin, Prostate

Publications for Nestor-Guillermo Progeria Syndrome

Articles related to Nestor-Guillermo Progeria Syndrome:

# Title Authors Year
1
Characterisation of the borgwaldt LM4E system for in vitro exposures to undiluted aerosols from next generation tobacco and nicotine products (NGPs). ( 29421647 )
2018
2
Néstor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation. ( 25495845 )
2014
3
Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. ( 21932319 )
2011
4
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. ( 21549337 )
2011
5
Remission of epilepsy. The NGPS. National General Practice Study of Epilepsy. ( 7475682 )
1995

Variations for Nestor-Guillermo Progeria Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 BANF1 p.Ala12Thr VAR_065954 rs387906871

ClinVar genetic disease variations for Nestor-Guillermo Progeria Syndrome:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 BANF1 NM_003860.3(BANF1): c.34G> A (p.Ala12Thr) single nucleotide variant Pathogenic rs387906871 GRCh37 Chromosome 11, 65770755: 65770755
2 BANF1 NM_003860.3(BANF1): c.34G> A (p.Ala12Thr) single nucleotide variant Pathogenic rs387906871 GRCh38 Chromosome 11, 66003284: 66003284
3 BANF1 NM_001143985.1(BANF1): c.-230C> T single nucleotide variant Uncertain significance rs781260209 GRCh37 Chromosome 11, 65769771: 65769771
4 BANF1 NM_001143985.1(BANF1): c.-440A> G single nucleotide variant Uncertain significance rs886048511 GRCh37 Chromosome 11, 65769561: 65769561
5 BANF1 NM_001143985.1(BANF1): c.-440A> G single nucleotide variant Uncertain significance rs886048511 GRCh38 Chromosome 11, 66002090: 66002090
6 BANF1 NM_001143985.1(BANF1): c.-415_-414dupAG duplication Uncertain significance rs373907315 GRCh37 Chromosome 11, 65769586: 65769587
7 BANF1 NM_001143985.1(BANF1): c.-415_-414dupAG duplication Uncertain significance rs373907315 GRCh38 Chromosome 11, 66002115: 66002116
8 BANF1 NM_001143985.1(BANF1): c.-408C> T single nucleotide variant Uncertain significance rs117774800 GRCh37 Chromosome 11, 65769593: 65769593
9 BANF1 NM_001143985.1(BANF1): c.-408C> T single nucleotide variant Uncertain significance rs117774800 GRCh38 Chromosome 11, 66002122: 66002122
10 BANF1 NM_001143985.1(BANF1): c.-254G> T single nucleotide variant Likely benign rs78790365 GRCh37 Chromosome 11, 65769747: 65769747
11 BANF1 NM_001143985.1(BANF1): c.-254G> T single nucleotide variant Likely benign rs78790365 GRCh38 Chromosome 11, 66002276: 66002276
12 BANF1 NM_001143985.1(BANF1): c.-230C> T single nucleotide variant Uncertain significance rs781260209 GRCh38 Chromosome 11, 66002300: 66002300
13 BANF1 NM_001143985.1(BANF1): c.-192G> C single nucleotide variant Benign rs1786171 GRCh37 Chromosome 11, 65769809: 65769809
14 BANF1 NM_001143985.1(BANF1): c.-192G> C single nucleotide variant Benign rs1786171 GRCh38 Chromosome 11, 66002338: 66002338
15 BANF1 NM_001143985.1(BANF1): c.-86G> A single nucleotide variant Uncertain significance rs886048514 GRCh37 Chromosome 11, 65769915: 65769915
16 BANF1 NM_001143985.1(BANF1): c.-86G> A single nucleotide variant Uncertain significance rs886048514 GRCh38 Chromosome 11, 66002444: 66002444
17 BANF1 NM_001143985.1(BANF1): c.9C> T (p.Thr3=) single nucleotide variant Uncertain significance rs150372514 GRCh37 Chromosome 11, 65770730: 65770730
18 BANF1 NM_001143985.1(BANF1): c.9C> T (p.Thr3=) single nucleotide variant Uncertain significance rs150372514 GRCh38 Chromosome 11, 66003259: 66003259
19 BANF1 NM_001143985.1(BANF1): c.*177G> A single nucleotide variant Uncertain significance rs148797275 GRCh37 Chromosome 11, 65771420: 65771420
20 BANF1 NM_001143985.1(BANF1): c.*177G> A single nucleotide variant Uncertain significance rs148797275 GRCh38 Chromosome 11, 66003949: 66003949
21 BANF1 NM_001143985.1(BANF1): c.*273C> G single nucleotide variant Uncertain significance rs142270527 GRCh37 Chromosome 11, 65771516: 65771516
22 BANF1 NM_001143985.1(BANF1): c.*273C> G single nucleotide variant Uncertain significance rs142270527 GRCh38 Chromosome 11, 66004045: 66004045
23 BANF1 NM_001143985.1(BANF1): c.-421G> A single nucleotide variant Uncertain significance rs886048513 GRCh37 Chromosome 11, 65769580: 65769580
24 BANF1 NM_001143985.1(BANF1): c.-421G> A single nucleotide variant Uncertain significance rs886048513 GRCh38 Chromosome 11, 66002109: 66002109
25 BANF1 NM_001143985.1(BANF1): c.-35A> T single nucleotide variant Uncertain significance rs886048515 GRCh37 Chromosome 11, 65769966: 65769966
26 BANF1 NM_001143985.1(BANF1): c.-35A> T single nucleotide variant Uncertain significance rs886048515 GRCh38 Chromosome 11, 66002495: 66002495
27 BANF1 NM_001143985.1(BANF1): c.-17+12A> G single nucleotide variant Uncertain significance rs886048516 GRCh37 Chromosome 11, 65769996: 65769996
28 BANF1 NM_001143985.1(BANF1): c.-17+12A> G single nucleotide variant Uncertain significance rs886048516 GRCh38 Chromosome 11, 66002525: 66002525
29 BANF1 NM_001143985.1(BANF1): c.*128C> A single nucleotide variant Uncertain significance rs144367403 GRCh37 Chromosome 11, 65771371: 65771371
30 BANF1 NM_001143985.1(BANF1): c.*128C> A single nucleotide variant Uncertain significance rs144367403 GRCh38 Chromosome 11, 66003900: 66003900
31 BANF1 NM_001143985.1(BANF1): c.*209T> G single nucleotide variant Uncertain significance rs886048519 GRCh37 Chromosome 11, 65771452: 65771452
32 BANF1 NM_001143985.1(BANF1): c.*209T> G single nucleotide variant Uncertain significance rs886048519 GRCh38 Chromosome 11, 66003981: 66003981
33 BANF1 NM_001143985.1(BANF1): c.-297G> A single nucleotide variant Uncertain significance rs141605220 GRCh37 Chromosome 11, 65769704: 65769704
34 BANF1 NM_001143985.1(BANF1): c.-297G> A single nucleotide variant Uncertain significance rs141605220 GRCh38 Chromosome 11, 66002233: 66002233
35 BANF1 NM_001143985.1(BANF1): c.-221T> G single nucleotide variant Benign rs14157 GRCh37 Chromosome 11, 65769780: 65769780
36 BANF1 NM_001143985.1(BANF1): c.-221T> G single nucleotide variant Benign rs14157 GRCh38 Chromosome 11, 66002309: 66002309
37 BANF1 NM_001143985.1(BANF1): c.-17+4T> G single nucleotide variant Uncertain significance rs35208625 GRCh37 Chromosome 11, 65769988: 65769988
38 BANF1 NM_001143985.1(BANF1): c.-17+4T> G single nucleotide variant Uncertain significance rs35208625 GRCh38 Chromosome 11, 66002517: 66002517
39 BANF1 NM_001143985.1(BANF1): c.-429G> C single nucleotide variant Uncertain significance rs886048512 GRCh37 Chromosome 11, 65769572: 65769572
40 BANF1 NM_001143985.1(BANF1): c.-429G> C single nucleotide variant Uncertain significance rs886048512 GRCh38 Chromosome 11, 66002101: 66002101
41 BANF1 NM_001143985.1(BANF1): c.*64T> A single nucleotide variant Uncertain significance rs886048517 GRCh37 Chromosome 11, 65771307: 65771307
42 BANF1 NM_001143985.1(BANF1): c.*64T> A single nucleotide variant Uncertain significance rs886048517 GRCh38 Chromosome 11, 66003836: 66003836
43 BANF1 NM_001143985.1(BANF1): c.*120T> A single nucleotide variant Uncertain significance rs886048518 GRCh37 Chromosome 11, 65771363: 65771363
44 BANF1 NM_001143985.1(BANF1): c.*120T> A single nucleotide variant Uncertain significance rs886048518 GRCh38 Chromosome 11, 66003892: 66003892

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

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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32 HMDB
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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