Nestor-guillermo Progeria Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Nestor-guillermo Progeria Syndrome

BANF1

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Clinical Features

Top most frequent phenotypes and symptoms related to Nestor-guillermo Progeria Syndrome

Short stature
Scoliosis
Growth delay
Failure to thrive
Micrognathia
Flexion contracture
Hypertension
Abnormality of the skeletal system
Malar flattening
Midface retrusion

And another 30 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Nestor-guillermo Progeria Syndrome Is also known as progeria syndrome, childhood-onset, with osteolysis, ngps, pscoo.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Nestor-guillermo Progeria Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Progeroid syndromes (NGS panel for 12 genes). By CGC Genetics (Portugal). BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1 Specificity 9 % Genes 100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes). By CGC Genetics (Portugal). BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...) View the complete list with 5 more genes Panel complete gene list BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 4 % Genes 100 %
Progeroid syndromes (NGS panel for 12 genes). By CGC Genetics (Portugal). BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1 Specificity 9 % Genes 100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes). By CGC Genetics (Portugal). BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...) View the complete list with 5 more genes Panel complete gene list BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 4 % Genes 100 %
Nestor-Guillermo Progeria Syndrome. By Exeter Molecular Genetics Laboratory (United Kingdom). BANF1 Specificity 100 % Genes 100 %
Progeroid syndromes and related disorders NGS panel. By Connective Tissue Gene Tests (United States). WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...) View the complete list with 1 more genes Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 Specificity 5 % Genes 100 %
Progeroid syndromes and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...) View the complete list with 1 more genes Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 Specificity 5 % Genes 100 %
Progeroid syndromes and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...) View the complete list with 1 more genes Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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