Disease #00572

Official abbreviation LMPS
Name multiple pterygium syndrome, lethal type (LMPS )
OMIM ID 253290
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 3 genes CHRNA1, CHRND, CHRNG
Associated tissues -
Disease features -
Remarks -


Individuals

12 entries on 1 page. Showing entries 1 - 12.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00117828 - PubMed: Hoffmann 2006 - - - Switzerland - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 1 1 Johan den Dunnen
00117831 - PubMed: Morgan 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - - Arab - 0 - - LMPS Multiple Pterygium Syndrome: nonlethal and lethal CHRNG CHRNG 1 1 Johan den Dunnen
00117833 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - Turkey Turkish - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 1 1 Johan den Dunnen
00117834 - PubMed: Vogt 2011 - - - - White - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 2 1 Johan den Dunnen
00117839 - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 1 1 Johan den Dunnen
00117840 - PubMed: Vogt 2011 - - - - White - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 1 1 Johan den Dunnen
00117842 - PubMed: Hoffmann 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - Lebanon - - 0 - - LMPS Multiple Pterygium Syndrome: nonlethal and lethal CHRNG CHRNG 1 1 Johan den Dunnen
00117843 - PubMed: Hoffmann 2006 - - - Turkey - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 1 1 Johan den Dunnen
00117844 - PubMed: Morgan 2006 - - - Turkey Turkish - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 1 1 Johan den Dunnen
00117850 - PubMed: Vogt 2011 - - - Algeria Algerian - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 1 1 Johan den Dunnen
00117851 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type CHRNG CHRNG 1 1 Johan den Dunnen
00181107 28543167-Pat PubMed: Meier 2017 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M no Turkey - - 0 - - LMPS Hydrops, skeletal and smooth muscle hypoplasia, pterygia RYR1 RYR1 1 3 Isabel Filges
Legend