Individual #00025923

ID_report -
Reference PubMed: Krawitz 2010, PubMed: Thompson 2010
Remarks 13-year-old proposita with hyperphophatasia and severe mental retardation.
Gender F
Consanguinity no
Country Germany
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS-1
Owner name Philippe Campeau


Phenotypes

hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2)) (HPMRS-1;GPIBD-2)   Add phenotype for this disease

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0000021993 Her psychomotor development was considerably delayed. Epilepsy started as early as in her first year of life which responded well to treatment with valproic acid. Serum alkaline phosphatase was significantly and constantly elevated. Dysmorphic facial features include widely spaced eyes with an upward slant of palpebral fissures, a broad nasal bridge and tip, and a tented upper lip. Her hands and feet show bilateral brachytelephalangy including small nails. Radiographs of her left hand and left foot disclosed abnormally short distal phalanges of fingers and toes, respectively. - - Familial, autosomal recessive - - - - - Philippe Campeau



Screenings


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0000025925 DNA SEQ - - PIGV 1 Philippe Campeau



Variants

1 entry on 1 page. Showing entry 1.
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1 Both (homozygous) +/+ g.27121547C>T g.26795056C>T - - PIGV_000004 This mutation affects a highly conserved residue. This was absent in 200 controls. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn't restore CD59 and CD55 surface expression. PubMed: Krawtiz 2010 - rs139073416 Germline yes - - 0 - Philippe Campeau PIGV - - - - - - NM_017837.3:c.1022C>T - - r.(?) p.(Ala341Val) - - - - - - - - - - - - - - - - - - -
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