Disease #04329 (PENTT (aging, premature, syndrome, Penttinen type (PENTT)), OMIM:601812)

Official abbreviation PENTT
Name aging, premature, syndrome, Penttinen type (PENTT)
OMIM ID 601812
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene PDGFRB
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-12 21:58:07 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00049844 - PubMed: Johnston 2015, Journal: Johnston 2015 - M no China;Indonesia - >07y - - - PENTT see paper; shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, thin calvarium, developmental delay, no hearing loss, posterior fossa cyst, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... PDGFRB PDGFRB 1 1 Johan den Dunnen
00049845 - PubMed: Johnston 2015, Journal: Johnston 2015 distantly related parents F ? Pakistan - >14y - - - PENTT see paper; open fontanelles, shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, no scoliosis, thin calvarium, normal intelligence, no hearing loss, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... PDGFRB PDGFRB 1 1 Johan den Dunnen
00049846 - PubMed: Penttinen 1997, PubMed: Johnston 2015, Journal: Johnston 2015 - M - Finland - >29y - - - PENTT see paper; open fontanelles, shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, microphthalmia, corneal abnormaltiy, , thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers/toes, osteopenia, thin bones, scoliosis, thin calvarium, normal intelligence, bilateral sensorineural hearing loss, mega cisterna magna, hypothyroid, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... PDGFRB PDGFRB 1 1 Johan den Dunnen
00049847 - PubMed: Johnston 2015, Journal: Johnston 2015 adopted child F no China;Viet Nam - >15y - - - PENTT see paper; open fontanelles, shallow orbits, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, wormian bones, normal intelligence, no hearing loss, cortical and cerebellar atrophy, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... PDGFRB PDGFRB 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.