Disease #04060 (HPMRS4;GPIBD10 (hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10))), OMIM:615716)

Official abbreviation HPMRS4;GPIBD10
Name hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10))
OMIM ID 615716
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 24
Phenotype entries for this disease 24
Associated with 1 gene PGAP3
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

24 entries on 1 page. Showing entries 1 - 24.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
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, PGAP3 PGAP3 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 . PGAP3 PGAP3 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. PGAP3 PGAP3 1 1 Philippe Campeau
00025929 - 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 . PGAP3 PIGV 1 1 Philippe Campeau
00080958 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - HPMRS4;GPIBD10 Hyperphosphatasia with mental retardation syndrome 4 (OMIM:615716) PGAP3 PGAP3 1 1 Daniel Trujillano
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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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) PGAP3 PGAP3 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). PGAP3 PGAP3 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) PGAP3 PGAP3 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). PGAP3 PGAP3 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) PGAP3 PGAP3 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 PGAP3 PGAP3 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 PGAP3 PGAP3 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. PGAP3 PGAP3 1 1 Philippe Campeau
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.