New Terms Request: differentiate three subtypes of progeria

[vjenkinsFB]

DOID:3911, progeria, describes a disease with material basis in LMNA, cross-linked to Hutchinson-Gilford progeria syndrome in OMIM (https://www.omim.org/entry/176670). However, OMIM has a HGPS as one of three in a phenotypic series of progeria subtypes (https://www.omim.org/phenotypicSeries/PS176670):

Phenotypic Series Progeria - PS176670 MIM - name; abbreviation - associated gene - 176670 - HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS - LMNA - 150330 264090 - WIEDEMANN-RAUTENSTRAUCH SYNDROME; WDRTS - POLR3A - 614258 614008 - NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS - BANF1 - 603811

I would like to request that DO update DOID:3911 to specify that this is one subtype, and add terms for the other two, as well as possibly a parent term for all three. HGPS and WDRTS are very thoroughly described on OMIM. NGPS has less supporting information, but a new case study was recently published:

https://pubmed.ncbi.nlm.nih.gov/32783369/ Fisher HG, Patni N, Scheuerle AE. An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood. Am J Med Genet A. 2020;182(10):2399-2402. doi:10.1002/ajmg.a.61777

Thank you!

[lschriml]

Thank you for the new term request !!

[lschriml]

-- I see what you pointed out: OMIM has created a phenotypic series (PS176670) - called progeria

I am looking into adding a new parent category: progeroid syndrome -- and will keep this ticket open for that work

Looking through literature, see below, 'progeria' is synonymous with Hutchinson-Gilford syndrome

• based on the history of the term, progeria, and the literature, I don't think we can have 'progeria' be a parent term to these three syndromes

I will add the two other types; OMIM:264090 - [WIEDEMANN-RAUTENSTRAUCH SYNDROME], WDRTS - POLR3A -
PROGEROID SYNDROME, NEONATAL OMIM: 614008 - [NESTOR-GUILLERMO PROGERIA SYNDROME] NGPS - BANF1 - PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS; PSCOO

Notes:

Progeroid means "resembling premature aging,

DOID:3911, progeria, describes a disease with material basis in LMNA, cross-linked to Hutchinson-Gilford progeria syndrome

Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford syndrome https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038

Progeria

• HGPS; Hutchinson Gilford progeria syndrome; Hutchinson Gilford syndrome
• Progeria is caused by a genetic variant in the LMNA gene. https://rarediseases.info.nih.gov/diseases/7467/progeria

Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/

OMIM:176670 both classic infantile-onset and later childhood-onset Hutchinson-Gilford progeria syndrome (HGPS) are caused by de novo heterozygous mutation in the lamin A gene (LMNA; 150330) on chromosome 1q22.

Progeria - PS176670

OMIM:264090 - [WIEDEMANN-RAUTENSTRAUCH SYNDROME], WDRTS - POLR3A -
PROGEROID SYNDROME, NEONATAL OMIM: 614008 - [NESTOR-GUILLERMO PROGERIA SYNDROME] NGPS - BANF1 - PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS; PSCOO

DOID:0060590 XFE progeroid syndrome (OMIM:610965)

progeroid phenotype Progeroid facial appearance (HP:0005328) A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. [ HPO : probinson ]

Prematurely aged appearance (HP:0007495)

Further review needed on: progeroid syndrome DOID:3911 progeria (synonyms: Hutchinson Gilford progeria syndrome) Orphanet:139033

Genetic progeroid syndrome (Orphanet:363245)

Progeroid syndromes (PS) are a group of rare that mimic, making affected individuals appear to be older than they are. The term progeroid syndrome does not necessarily imply progeria (Hutchinson–Gilford progeria syndrome), which is a specific type of progeroid syndrome.

Examples of PS include [Werner syndrome], [Bloom syndrome], [Rothmund–Thomson syndrome], [Cockayne syndrome], [xeroderma pigmentosum]), trichothiodystrophy (TTD), combined [xeroderma pigmentosum](-[Cockayne syndrome], [restrictive dermopathy], and [Hutchinson–Gilford progeria syndrome] . Individuals with these disorders tend to have a reduced lifespan.[[3]

[lschriml]

Progeroid means "resembling premature aging," a definition that can apply to a broad range of diseases. Familial Alzheimer's disease and familial Parkinson's disease are two well-known accelerated-aging diseases that are more frequent in older individuals.

https://en.wikipedia.org/wiki/Progeroid_syndromes

Prematurely aged appearance (HP:0007495)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958309/ The first group includes those syndromes caused by alterations in components of the nuclear envelope, such as Hutchinson-Gilford progeria syndrome (HGPS), Néstor-Guillermo progeria syndrome (NGPS), atypical progeria syndromes (APSs), restrictive dermopathy (RD) and mandibuloacral dysplasia (MAD). The second group consists of progeroid syndromes induced by mutations in genes involved in DNA-repair pathways, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy (TTD), Fanconi anaemia (FA), Seckel syndrome (SS), ataxia telangiectasia (AT), ataxia telangiectasia-like disorder (ATLD), cerebroretinal microangiopathy with calcifications and cysts (CRMCC), and Nijmegen breakage syndrome (NBN). A subcategory of this group comprises dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson syndrome (HHS), linked to mutations in components of the telomerase complex (see Box 1 for a glossary of terms) that cause telomere attrition.

[lschriml]

The first group includes those syndromes:

• caused by alterations in components of the nuclear envelope Hutchinson-Gilford progeria syndrome (HGPS), Néstor-Guillermo progeria syndrome (NGPS), atypical progeria syndromes (APSs), restrictive dermopathy (RD) and mandibuloacral dysplasia (MAD).

The second group

• consists of progeroid syndromes induced by mutations in genes involved in DNA-repair pathways

• Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy (TTD), Fanconi anaemia (FA), Seckel syndrome (SS), ataxia telangiectasia (AT), ataxia telangiectasia-like disorder (ATLD), cerebroretinal microangiopathy with calcifications and cysts (CRMCC), Nijmegen breakage syndrome (NBN).

A subcategory of this group comprises: dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson syndrome (HHS), -- linked to mutations in components of the telomerase complex (see Box 1 for a glossary of terms) that cause telomere attrition.

[lschriml]

-- add synonym to progeroid syndrome; Premature aging (progeroid) syndromes

-- add SubClassOf

-- move to be a child of 'progeroid syndrome' Werner syndrome (WS),

• Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN,

• https://pubmed.ncbi.nlm.nih.gov/29752965/

  ??? Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy (TTD), Fanconi anaemia (FA), Seckel syndrome (SS), ataxia telangiectasia (AT), ataxia telangiectasia-like disorder (ATLD), cerebroretinal microangiopathy with calcifications and cysts (CRMCC), Nijmegen breakage syndrome (NBN).

A subcategory of this group comprises: dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson syndrome (HHS), -- linked to mutations in components of the telomerase complex (see Box 1 for a glossary of terms) that cause telomere attrition.

The first group includes those syndromes:

• caused by alterations in components of the nuclear envelope Hutchinson-Gilford progeria syndrome (HGPS), Néstor-Guillermo progeria syndrome (NGPS), atypical progeria syndromes (APSs), restrictive dermopathy (RD) and mandibuloacral dysplasia (MAD). Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments.

[lschriml]

I am looking into adding a new parent category: progeroid syndrome -- and will keep this ticket open for that work

[lschriml]

Looking in DO, I see that this was completed.

I have added the PS # to the parent term.