Disease #00937 (HPMRS2;GPIBD6 (hyperphosphatasia, with mental retardation syndrome, type 2 (HPMRS-2, glycosylphosphatidylinositol deficiency, type 6 (GPIBD-6))), OMIM:614749)

Official abbreviation HPMRS2;GPIBD6
Name hyperphosphatasia, with mental retardation syndrome, type 2 (HPMRS-2, glycosylphosphatidylinositol deficiency, type 6 (GPIBD-6))
OMIM ID 614749
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene PIGO
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00025057 - PubMed: Krawitz et al 2012 Two sisters with hyperphosphatasia with mental retardation syndrome type 2 (OMIM 614749) F no United Kingdom (Great Britain) white - - - - HPMRS2;GPIBD6 The patients were born with anal stenosis. Growth development was delayed in elder sister who also showed marked microcephaly. Psychomotor development was present but it was most severe in elder sister. Their common facial signs included wide-set eyes that appeared large because of long palpebral fissures, a short nose with a broad nasal bridge and nasal tip, and a tented mouth. Their fingers showed nail hypoplasia, especially of the second, fourth, and fifth digits, and absent nails of the fifth digits. Their halluces were broad, but the toes showed small nails or aplasia of nails, especially of the fourth and fifths digits. PIGO PIGO 2 1 Philippe Campeau
00025058 - PubMed: Krawitz 2012 Index case with hyperphosphatasia with mental retardation syndrome 2. F no - white 01y10m - - - HPMRS2;GPIBD6 She was born with anal atresia and perineal fistula. Additional malformations included an atrial septal defect, peripheral pulmonary stenosis, left coronal synostosis resulting in plagiocephaly, and an enlarged supratentorial ventricular system. Growth development was delayed. Psychomotor development was severely retarded. She developed tonic-clonic seizures at the age of 21 months and died at the age of 22 months as a result of a convulsive crisis. Facial signs included wide-set eyes that appeared large because of long palpebral fissures, a short nose with a broad nasal bridge and nasal tip, and a tented mouth. PIGO PIGO 2 1 Philippe Campeau
00025483 - PubMed: Chiyonobu 2014 Index case with hyperphosphatasia with mental retardation 5 . OMIM 610275. M no Japan - - - - - HPMRS2;GPIBD6 Development was profoundly delayed from early infancy. Dysmorphic facial features included broad nasal bridge and tented upper lip. Inguinal hernia was noted. The patient developed clusters of tonic spasms and was diagnosed as having West syndrome based on a high-amplitude hypsarrhythmic pattern on interictal EEG. ALP level were elevated. PIGW PIGW 2 1 Philippe Campeau
00100917 AII-2 - - F no Japan - 01y05m - - - HPMRS2;GPIBD6 - - PIGO 1 1 Junpei Tanigawa
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