Question progeroid and premature ageing, difference?

ValWood commented 4 years ago

What is the difference between

premature aging syndrome MONDO:0019303 and a progeroid syndrome MONDO:0015333

the only difference I have annotation wise are to de Barsy syndrome (MONDO:0017569)

but this is defined A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.

if they are different, maybe de Barsy syndrome (MONDO:0017569) should move under MONDO:0015333

kallia-p commented 2 years ago

premature aging syndrome MONDO:0019303 and progeroid syndrome MONDO:0015333 are disease grouping terms that are separate in Orhanet. Premature aging ORPHA:79389 is a group of disorders classified under the Orphanet classification of Rare genetic skin disease ORPHA:68346. Progeroid syndrome ORPHA:139033 is a group of disorders classified under Rare developmental defect during embryogenesis ORPHA:93890. There is quite a bit of overlap between the children of the 2, approximately 9 of them are shared between the two Orphanet grouping disease terms. de Barsy syndrome (MONDO:0017569) is classified under premature aging in Mondo which is in line with the Orphanet classification.

In Mondo progeroid syndrome is a SubClassOF premature ageing syndrome and the source of this is cjm (Chris Munghal?) I am not quite sure what is the reason behind this assertion.

Progeroid is a Greek word that means pre-mature ageing by the way! Let me know if you need me to investigate further or we are fine to keep in line with Orphanet grouping disease terms.

nicolevasilevsky commented 2 years ago

Hi @ValWood- the definition of de Barsy syndrome says it has progeroid appearance but that doesn't necessarily mean it is a progeroid syndrome, from what I understand. I think we should leave this classification as is. Please reopen if you disagree or if further action is needed. thanks!

ValWood commented 2 years ago

progeroid appearance means 'premature ageing features', so if it has these features I assume it must be a progeroid syndrome? Although I agree that in all cases x features might not == 'x syndrome', that depends how the syndrome itself is classified. But this definition of progeroid syndrome is very generic:

"A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are" which seems to fit "De Barsy syndrome"

Googling I found https://pubmed.ncbi.nlm.nih.gov/4076251/ title De Barsy syndrome--an autosomal recessive, progeroid syndrome

and https://rarediseases.info.nih.gov/diseases/49/de-barsy-syndrome has a synonym " Progeroid syndrome of De Barsy"

@pnrobinson is this an exception?

ValWood commented 2 years ago

Also, I no longer have the ability to re-open tickets (I used to).

pnrobinson commented 2 years ago

Progeria means that patients age quickly and survive until their teens. This is the classic progeria disease: https://omim.org/entry/176670. I would suggest a good terminology is that progeroid syndrome be used for syndromes associated with a substantially reduced life expectancy due to "premature aging". Additionally there are syndromes with characteristics that cause affected people to "look older than they are", for instance because of wrinkly skin, and sometimes one sees the term progeroid appearance. I think that is the case here. To my knowledge, Cutis laxa, autosomal recessive, type IIIA is not a progeroid syndrome in this sense. @ahamosh is this accurate?

ahamosh commented 2 years ago

There are many entries in OMIM that are "progeroid syndromes" that aren't associated with reduced life expectancy. De Barsy (I have only seen one) have remarkably wrinkly skin and are thin and have severe MR. There are only two progeria syndromes HGPS (the classic) and Nestor-Guillermo Progeria syndrome, which should probably be changed to progeroid syndrome. I don't think that there is consistency in the two Orphanet trees. I can think about this more, but not right now.

nicolevasilevsky commented 2 years ago

Also, I no longer have the ability to re-open tickets (I used to).

@valwood I sent you an invite to this repo, you may need to accept it, then you should be able to open/close issues.

nicolevasilevsky commented 2 years ago

@ValWood @pnrobinson @ahamosh we have many classes subclassified under 'progeroid syndrome' in Mondo in the list below. The bold terms are classified as a child of 'progeroid syndrome' only by Orphanet.

My questions:

[x] should we exclude 'progeroid syndrome' as a superclass for the terms in the list below, except progeria.
[x] Progeria is a grouping class from OMIM (https://omim.org/phenotypicSeries/PS176670). I think this may be equivalent to the Orphanet grouping class 'progeroid syndrome' and these terms could potentially be merged. Update 2023-03-13: I don't think these are equiv. The Orphanet grouping class does not have any genes associated with it

Current children of progeroid syndrome:

'acquired partial lipodystrophy'
'acroosteolysis-keloid-like lesions-premature aging syndrome'
'ataxia-telangiectasia-like disorder 2'
'atypical Werner syndrome'
'Berardinelli-Seip congenital lipodystrophy'
'Cockayne syndrome'
'Donohue syndrome'
'familial partial lipodystrophy, Dunnigan type'
'Fontaine progeroid syndrome'
'lipodystrophy-intellectual disability-deafness syndrome'
'mandibular hypoplasia-deafness-progeroid syndrome'
'mandibuloacral dysplasia'
'Ogden syndrome'
progeria
'progeria-short stature-pigmented nevi syndrome'
'progeroid features-hepatocellular carcinoma predisposition syndrome'
'pseudoprogeria syndrome'
'Rothmund-Thomson syndrome'
'SHORT syndrome'
'Werner syndrome'
'xeroderma pigmentosum'
'xeroderma pigmentosum-Cockayne syndrome complex'

Proposed hierarchy for progeroid syndrome:

progeroid syndrome (equivalent to progria (OMIM:PS176670) and Orphanet:139033
- 'Hutchinson-Gilford progeria syndrome'
- 'Nestor-Guillermo progeria syndrome'
- 'Wiedemann-Rautenstrauch syndrome'