MCID: NST002
MIFTS: 25

Nestor-Guillermo Progeria Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Nestor-Guillermo Progeria Syndrome

MalaCards integrated aliases for Nestor-Guillermo Progeria Syndrome:

Name: Nestor-Guillermo Progeria Syndrome 57 53 59 75 37 29 13 6 73
Ngps 57 53 59 75
Pscoo 57 53 75
Progeria Syndrome, Childhood-Onset, with Osteolysis 57 53
Progeria Syndrome, Childhood-Onset, with Osteolysis; Pscoo 57
Progeria Syndrome Childhood-Onset with Osteolysis 75
Syndrome, Progeria, Nestor-Guillermo 40

Characteristics:

Orphanet epidemiological data:

59
nestor-guillermo progeria syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
nestor-guillermo progeria syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nestor-Guillermo Progeria Syndrome

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Nestor-Guillermo Progeria Syndrome, also known as ngps, is related to prostate cancer and neuroblastoma, 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 skin and bone, and related phenotypes are malar flattening and micrognathia

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 10.9
2 neuroblastoma 10.2

Symptoms & Phenotypes for Nestor-Guillermo Progeria Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nestor-Guillermo Progeria Syndrome:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 micrognathia 32 HP:0000347
3 convex nasal ridge 32 HP:0000444
4 proptosis 32 HP:0000520
5 sparse and thin eyebrow 32 HP:0000535
6 sparse eyelashes 32 HP:0000653
7 dental crowding 32 HP:0000678
8 abnormality of the ribs 32 HP:0000772
9 progressive clavicular acroosteolysis 32 HP:0000905
10 osteoporosis 32 HP:0000939
11 flexion contracture 32 HP:0001371
12 joint stiffness 32 HP:0001387
13 delayed closure of the anterior fontanelle 32 HP:0001476
14 failure to thrive 32 HP:0001508
15 pulmonary arterial hypertension 32 HP:0002092
16 atherosclerosis 32 HP:0002621
17 scoliosis 32 HP:0002650
18 abnormality of the forearm 32 HP:0002973
19 short stature 32 HP:0004322
20 spotty hyperpigmentation 32 HP:0005585
21 osteolytic defects of the distal phalanges of the hand 32 HP:0009839
22 wide cranial sutures 32 HP:0010537
23 sinus tachycardia 32 HP:0011703
24 right bundle branch block 32 HP:0011712
25 midface retrusion 32 HP:0011800
26 lipoatrophy 32 HP:0100578

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 29 BANF1

Anatomical Context for Nestor-Guillermo Progeria Syndrome

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

41
Skin, Bone

Publications for Nestor-Guillermo Progeria Syndrome

Variations for Nestor-Guillermo Progeria Syndrome

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

75
# 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.-440A> G single nucleotide variant Uncertain significance rs886048511 GRCh37 Chromosome 11, 65769561: 65769561
4 BANF1 NM_001143985.1(BANF1): c.-440A> G single nucleotide variant Uncertain significance rs886048511 GRCh38 Chromosome 11, 66002090: 66002090
5 BANF1 NM_001143985.1(BANF1): c.-415_-414dupAG duplication Uncertain significance rs373907315 GRCh37 Chromosome 11, 65769586: 65769587
6 BANF1 NM_001143985.1(BANF1): c.-415_-414dupAG duplication Uncertain significance rs373907315 GRCh38 Chromosome 11, 66002115: 66002116
7 BANF1 NM_001143985.1(BANF1): c.-408C> T single nucleotide variant Uncertain significance rs117774800 GRCh37 Chromosome 11, 65769593: 65769593
8 BANF1 NM_001143985.1(BANF1): c.-408C> T single nucleotide variant Uncertain significance rs117774800 GRCh38 Chromosome 11, 66002122: 66002122
9 BANF1 NM_001143985.1(BANF1): c.-254G> T single nucleotide variant Likely benign rs78790365 GRCh37 Chromosome 11, 65769747: 65769747
10 BANF1 NM_001143985.1(BANF1): c.-254G> T single nucleotide variant Likely benign rs78790365 GRCh38 Chromosome 11, 66002276: 66002276
11 BANF1 NM_001143985.1(BANF1): c.-230C> T single nucleotide variant Uncertain significance rs781260209 GRCh37 Chromosome 11, 65769771: 65769771
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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