All individuals with variants in gene PGAP3

53 entries on 1 page. Showing entries 1 - 53.
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00025462 - PubMed: Howard 2014 Three siblings, 17,8 and 4y, with hyperphosphatasia with mental retardation 4. - yes Pakistan Pakistani - - - - HPMRS4;GPIBD10 All three children presented profound developmental delay, severe learning disability, no speech, psychomotor delay, postnatal microcephaly, and high levels of serum ALP. 2 over three had generalized tonic-clonic seizures. All had involuntary midline hand movements, and bruxism. Facial features included apparent hypertelorism, Upslanting palpebral fissures, Broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion, Large, fleshy ear lobes, cleft lip in 2 over 3, 1 1 Philippe Campeau
00025463 - PubMed: Howard 2014 Index case. F no United States white - - - - HPMRS4;GPIBD10 She presented global development delay, elevated serum ALP levels, and tonic-clonic and cluster seizures. Facial features included apparent hypertelorism, broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion . 2 1 Philippe Campeau
00025464 - PubMed: Howard 2014 Index case. F yes Saudi Arabia - - - - - HPMRS4;GPIBD10 She had severe psychomotor delay. Myoclonic seizures started in her second year of life. Physical examination of this 2-year-old female showed normal growth parameters and OFC but axial muscular hypotonia, uncoordinated movements, and facial dysmorphism including hypertelorism, short nose with broad bridge and tip, Tented upper-lip vermilion and Large, fleshy ear lobes. ALP activity was elevated. 1 1 Philippe Campeau
00080958 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - HPMRS4;GPIBD10 Hyperphosphatasia with mental retardation syndrome 4 (OMIM:615716) 1 1 Daniel Trujillano
00155253 A-II-1 Knaus 2016:27120253 - F no - European American - - - - HPMRS1;GPIBD2 - 2 1 Philippe Campeau
00155254 B-II-2 PubMed: Knaus 2016 - F no - German - - - - HPMRS1;GPIBD2 - 2 1 Philippe Campeau
00155255 C-II-1 PubMed: Knaus 2016 - M no - French - - - - HPMRS1;GPIBD2 - 2 2 Philippe Campeau
00155256 C-II-2 PubMed: Knaus 2016 - F no - French - - - - HPMRS1;GPIBD2 - 2 1 Philippe Campeau
00155267 D-II-2 PubMed: Knaus 2016 - F no - British - - - - HPMRS1;GPIBD2 - 2 1 Philippe Campeau
00155268 E-II-2 PubMed: Knaus 2016 - F yes - Palestinian - - - - HPMRS1;GPIBD2 - 1 2 Philippe Campeau
00155269 E-II-4 PubMed: Knaus 2016 - F yes - Palestinian - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155270 F-II-3 PubMed: Knaus 2016 - M no - Japanese - - - - HPMRS1;GPIBD2 - 2 1 Philippe Campeau
00155271 Patient_1 PubMed: Abdel-Hamid 2017 - M yes Egypt - - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155272 Patient_2 PubMed: Abdel-Hamid 2017 - F yes Egypt - - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155273 Patient_3 PubMed: Abdel-Hamid 2017 - F yes Egypt - - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155274 Patient_4 PubMed: Abdel-Hamid 2017 - M yes Egypt - - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155275 Patient_5 PubMed: Abdel-Hamid 2017 - F yes Egypt - - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155276 Patient_6 PubMed: Abdel-Hamid 2017 - F no Egypt - - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155277 Patient_7 PubMed: Abdel-Hamid 2017 cousin with Patient_8 M yes Egypt - - - - - HPMRS1;GPIBD2 - 1 2 Philippe Campeau
00155278 Patient_8 PubMed: Abdel-Hamid 2017 cousin with Patient_7 F no Egypt - - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155279 Patient_9 PubMed: Abdel-Hamid 2017 - M yes Egypt - - - - - HPMRS1;GPIBD2 - 1 2 Philippe Campeau
00155280 Patient_10 PubMed: Abdel-Hamid 2017 - M yes Egypt - - - - - HPMRS1;GPIBD2 - 1 1 Philippe Campeau
00155283 257982 PubMed: Pagnamenta 2017 - F no - white - - - - DD - 2 2 Philippe Campeau
00155284 - PubMed: Pagnamenta 2017 brother of individual 257982 M no - white - - - - DD - 2 1 Philippe Campeau
00155285 IV-1 PubMed: Nampoothiri 2017 - M yes Oman - - - - - DD - 1 2 Philippe Campeau
00155286 IV-2 PubMed: Nampoothiri 2017 - F yes Oman - - - - - DD, HPMRS6;GPIBD12 - 1 1 Philippe Campeau
00207386 I-1 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >09y - - anti-epileptic medications HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, facial dysmorphism, muscular hypotonia, MRI abnormalities (Dandy walker malformation), High ALP levels (703 U/L) 1 1 Philippe Campeau
00207387 VIII-2 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >04y - - anti-epileptic medications HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, Facial dysmorphism, Muscular hypotonia, cleft palate, High ALP levels (>600 U/L) 1 1 Philippe Campeau
00207388 VIII-1 PubMed: Balobaid et al., 2018 - M yes Oman Middle Eastern >07y - - anti-epileptic medications HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (cortical dysplasia), cleft palate, High ALP levels (>600 U/L) 1 1 Philippe Campeau
00207389 VII-2 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >05y - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Other findings (obesity), High ALP levels (>800 U/L) 1 1 Philippe Campeau
00207390 VII-1 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >09y - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, heart abnormalities (multiple atrial septal defect (ASD)), cleft palate, Other findings (abnormal teeth), High ALP levels (>800 U/L) 1 1 Philippe Campeau
00207391 VI-1 PubMed: Balobaid 2018 - F no Qatar Middle Eastern >06y - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Other findings (laryngomalacia), High ALP levels (1123 U/L) 1 1 Philippe Campeau
00207392 V-1 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >02y03m - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (congenital hip dysplasia), opthalmological abnormalities (megalocornea), Heart abnormalities (Small ASD), Cleft palate, High ALP levels (1212 U/L) 1 1 Philippe Campeau
00207393 IV-2 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >10y - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (Rathke cleft cyst), Cleft palate, Other findings (abnormal teeth), High ALP levels (848 U/L) 1 1 Philippe Campeau
00207394 IV-1 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >13y - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (hypoplasia of cerebral vermis), skeletal abnormalities (captodactly of 5th finger), Cleft palate, Other findings (abnormal teeth), High ALP levels (848 U/L) 1 1 Philippe Campeau
00207395 III-2 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >03y - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (fractures), Opthalmological abnormalities (megalocornea), Heart abnormalities (repaired arterial septal defect (ASD)), Other findings (hyperpigmented macules of the LT upper thigh, inguinal hernia, abnormal teeth), High ALP levels (1340 U/L) 1 1 Philippe Campeau
00207396 III-1 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >09y - - anti-epileptic medications HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Seizures (age at onset: 4 years, treatable), Facial dysmorphism, Muscular hypotonia, Opthalmological abnormalities (megalocornea), High ALP levels (1103 U/L) 1 1 Philippe Campeau
00207397 II-2 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >03y - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Opthalmological abnormalities (megalocornea), Otological abnormalities (severe bilateral hearing loss), Cleft palate, High ALP levels (890 U/L) 1 1 Philippe Campeau
00207398 II-1 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >08y - - anti-epileptic medications HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Seizure (multifocal epileptic foci from both hemispheres), Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (bilateral coxa valga), Opthalmological abnormalities (megalocornea), cleft palate, Other findings (bilateral inguinal hernia, undescended testes, abnormal teeth), High ALP levels (644 U/L). 1 1 Philippe Campeau
00207399 I-2 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >06y - - - HPMRS4;GPIBD10 Severe psychomotor delay, ID, delay speech, behaviour difficulties, facial dysmorphism, muscular hypotonia, MRI abnormalities (Dandy walker malformation), skeletal abnormalities (pectus excavatum, bilateral coxa valga), Otological abnormalities (mild hearing loss), cleft palate, High ALP levels (883.2 U/L) 1 1 Philippe Campeau
00207400 Patient 1 PubMed: Akgün Doğan et al., 2018 Second child of the parents (first cousin marriage), born via cesarean delivery at term. Died due to aspiration pneumonia-related respiratory distress. M yes - - 00y18m - - - HPMRS4;GPIBD10 Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, cleft palate, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size), Postnatal microcephaly, Short stature, Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum, mild ventriculomegaly, frontoparietal atrophy), Dysphagia, CVS Anomalies (patent foramen ovale (PFO)), Extremity abnormalities (brittle/hypoplastic nails, thin/sparse hair), Others (inguinal hernia, intestinal malrotation, ear pit nystagmus), ALP levels (672-837 U/L). 1 1 Philippe Campeau
00207401 Patient 2 PubMed: Akgün Doğan et al., 2018 3rd child of parents (first cousin marriage), younger sister of patient 1, born via cesarean delivery at 36 weeks F yes - - >00y01m - - - HPMRS4;GPIBD10 Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size, gum hypertrophy), Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum), Dysphagia, CVS Anomalies (patent ductus arteriosus (PDA), concentric ventricle hypertrophy), Extremity abnormalities (pes equinovarus, thin/sparse hair), Others (umbilical hernia, pectus excavatum), ALP levels (756-821 U/L) 1 1 Philippe Campeau
00207402 PGAP3 (2x)_individual 1 PubMed: Yavarna et al., 2015 Paper presents a compilation of many genes. No detailed information on specific PGAP3 patients. - - - Middle Eastern - - - - HPMRS4;GPIBD10 ID, global DD, epilepsy, dysmorphism, microcephaly and other structural brain anomalies, autism 1 1 Philippe Campeau
00207403 PGAP3 (2x)_individual 2 PubMed: Yavarna et al., 2015 Paper presents a compilation of many genes. No detailed information on patient. - - - Middle Eastern - - - - HPMRS4;GPIBD10 ID, global DD, epilepsy, dysmorphism, microcephaly and other structural brain anomalies, autism 1 1 Philippe Campeau
00207405 II-1 PubMed: Sakaguchi et al., 2018 Novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient. Born to healthy and nonconsanguineous parents (from the same region) after an uneventful pregnancy. M no Croatia (Hrvatska) Croatian >08y - - Orthotics at 6 years with no improvements, intensive physical therapy for the marked generalized hypotonia. Phenobarbital and Valproate for seizures. 200 mg of pyridoxine daily for neuronal symptoms. HPMRS4;GPIBD10 Multiple congenital anomalies (broad nasal bridge, tented upper lip vermilion, cleft palate, low set ears, micrognathia, retrognathia, brachytelephalangy, left sided cryptorchidism, wide feet, and broad toes). Progressive thoracic scoliosis. Hypotonia. Recurrent generalized seizures with dysrhythmic electroencephalographic paroxysmal changes. Thin corpus callosum. Severe psychomotor developmental delay, autistic behavior, and bruxism. Vision and hearing are normal, but cannot control egestion. Elevated ALP levels. 1 1 Philippe Campeau
00331543 17DG0809 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Hypoglycemia, Feeding difficulties in infancy, Bifid uvula, Recurrent infections, Febrile seiz Yes 1 1 LOVD
00331544 14DG0578 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Megalocornea, Global developmental delay, Buphthalmos, Overfolded helix, MicrognathiaYes 1 1 LOVD
00331545 12DG2300 , 12DG2301 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Diaphragmatic eventration, Global developmental delay, Microcephaly, Seizures, RecurrenNo 1 2 LOVD
00331546 14DG0816 , 16DG0111 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - - - - skeletal dysplasia Aplasia/Hypoplasia of the cerebellar vermis, Enlarged cisterna magna, Multicystic kidney No 1 2 LOVD
00331547 14DG2083 , 14DG2084, 14DG2085 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - - - - skeletal dysplasia Nonprogressive encephalopathy, Global developmental delay, Bulbous nose, Epicanthus, No 1 3 LOVD
00387892 M9000136 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - - - - ID syndromic intellectual disability, microcephaly, epilepsy 1 2 Johan den Dunnen
00426144 10MS6600 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
00440457 PED3570.1 PubMed: Nambot 2018 - - - France - - - - - ? - 2 1 Johan den Dunnen
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