Disease #00911 (EDSSPD1 (Ehlers-Danlos, progeroid, spondylodysplastic syndrome, type 1 (EDSSPD1)), OMIM:130070)

Official abbreviation EDSSPD1
Name Ehlers-Danlos, progeroid, spondylodysplastic syndrome, type 1 (EDSSPD1)
OMIM ID 130070
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 5
Phenotype entries for this disease -
Associated with 1 gene B4GALT7
Associated tissues -
Disease features -
Remarks Formerly known as progeroid syndrome.
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00318137 P12 PubMed: Nakajima et al., 2013 - - - Brazil - - - - - EDS, EDSSPD1 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318149 Patient 3 PubMed: Caraffi et al., 2019 The patient was the second child of non-consanguineous parents. Three variants were detected, and variant c.308C>T was described as a variant of uncertain significance. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSSPD1 - B3GALT6 B3GALT6 3 1 Raymond Dalgleish
00318151 P9 PubMed: Nakajima et al., 2013 This patient was further described in {PMID31614862:Caraffi et al., 2019} - - Italy Italy - - - - EDS, EDSSPD1 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318162 P10 PubMed: Nakajima et al., 2013 P10, of family F9, has a younger female relative of the same genotype (relation not explicitly stated, probably a sister) - - Italy;Canada Italian/Canadian - - - - EDS, EDSSPD1 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00319463 - PubMed: Sandler-Wilson et al., 2019 The patient had a female sibling who also carried both variants and was diagnosed with spEDS. The technique used was whole exome sequencing. - - - Partly French - - - - EDS, EDSSPD1 - B4GALT7 B4GALT7 2 1 Raymond Dalgleish
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