Disease #03582

Official abbreviation HPMRS-3;GPIBD-8
Name hyperphosphatasia, with mental retardation syndrome, type 3 (HPMRS-3, glycosylphosphatidylinositol deficiency, type 8 (GPIBD-8))
OMIM ID 614207
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 12
Phenotype entries for this disease 11
Associated with 1 gene PGAP2
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

12 entries on 1 page. Showing entries 1 - 12.
Legend  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age/Death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00025129 - PubMed: Hansen 2013 Family with three girls with autosomal recessive hyperphosphatasia with mental retardation-3. F yes Syria African - 0 - - HPMRS-3;GPIBD-8 - - - 0 1 Philippe Campeau
00025130 - PubMed: Hansen 2013 Family with three girls with autosomal recessive hyperphosphatasia with mental retardation-3. F yes Syria African - 0 - - HPMRS-3;GPIBD-8 The sisters of the first branch had an IQ below 35. Their motor development was severely delayed, and they had pronounced muscular weakness, hypotonia, and strabismus. Sleep patterns of both girls were disordered. Serum ALP activity was elevated. CT showed atrophy and increased gyration in both girls. Elder sister showed signs of Dandy-Walker malformation. Both girls had stature and head circumference belos the 5th percentile. Parents had also HC below the 5th percentile. The third girl, of the second branch, had hypotonia at birth. Motor development and language were severely delayed. Brain CT showed atrophy. Muscle atrophy was found by biopsy. PGAP2 PGAP2 1 1 Philippe Campeau
00025486 - PubMed: Krawitz 2013 Index case F no Finland Caucasian - 0 - - HPMRS-3;GPIBD-8 Mild intellectual disability and seizures. Facial features included broad nasal bridge and tented upper lip vermilion. Elevated ALP. PGAP2 PGAP2 2 1 Philippe Campeau
00028965 - PubMed: Hansen et al 2013 PubMed: Rehman et al 2011 Family with 4 affected siblings. (2 males and 2 females) - yes Pakistan - - 0 - - HPMRS-3;GPIBD-8 Average IQ 22, None had epilepsy. Clinical examination was normal. No data about ALP values. PGAP2 PGAP2 1 1 Philippe Campeau
00028966 - PubMed: Krawitz et al 2013 Index case M yes Turkey - - 0 - - HPMRS-3;GPIBD-8 OFC at birt below 2 SD, cleft palate and Hirschprung at birth, atrial septal defect, hypoplasia of corpus callosum. Intellectual impairment, hypotonia, myoclonic and tonic-clonic seizures, sensorineural hearing loss. Scoliosis, wide palpebral fissures, wide mouth. Hypoplasic fingernails. ALP elevated. PGAP2 PGAP2 1 1 Philippe Campeau
00154977 patient_1 PubMed: Naseer 2016 - M yes Saudi Arabia - - 0 - - HPMRS-3;GPIBD-8 - - PGAP2 1 2 Philippe Campeau
00154978 patient_2 PubMed: Naseer 2016 - F yes Saudi Arabia - - 0 - - HPMRS-3;GPIBD-8 - - PGAP2 1 1 Philippe Campeau
00207490 IV-3 PubMed: Perez et al., 2017 Consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase.  M yes Saudi Arabia Bedouin >25y 0 - - HPMRS-3;GPIBD-8 Mild mental retardation, mood problems, depression, speech difficulties, past history of febrile convulsions, Elevated alkaline phosphatase (499 IU/L) PGAP2 PGAP2 1 1 Philippe Campeau
00207491 IV-5 PubMed: Perez et al., 2017 consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase.  M yes Saudi Arabia Bedouin >18y 0 - - HPMRS-3;GPIBD-8 Developmental delay, Moderate mental retardation, Behavioral problems- aggression, Past history of seizures without fever, Elevated alkaline phosphatase (673 IU/L), generalized interictal spike and slow epileptiform discharges in EEG. No organ anomaly, No signs of dysmorphism, Normal cranial, motor, sensory, gait, and cerebellar exam, normal brain MRI PGAP2 PGAP2 1 1 Philippe Campeau
00207493 IV-6 PubMed: Perez et al., 2017 consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase.  F yes Saudi Arabia Bedouin >15y 0 - - HPMRS-3;GPIBD-8 Mild mental retardation, Mood problems- depression Speech difficulaties, Elevated alkaline phosphatase (>1000 IU/L). No organ anomaly, no signs of dysmorphism. PGAP2 PGAP2 1 1 Philippe Campeau
00207494 IV-7 PubMed: Perez et al., 2017 consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase.  F yes Saudi Arabia Bedouin >11y 0 - - HPMRS-3;GPIBD-8 Developmental delay, Mild mental retardation, Speech difficulties, Enuresis, Elevated alkaline phosphatase (1318 IU/L). No organ anomaly, No signs of dysmorphism, Normal cranial, motor, sensory, gait, and cerebellar exam, normal spine MRI. PGAP2 PGAP2 1 1 Philippe Campeau
00207496 U6 PubMed: Reid et al., 2016 Found in a gene panel targeting (614) genes causing inborn errors of metabolism M - - - >02y03m 0 - - HPMRS-3;GPIBD-8 Global severe developmental delay, tonic seizures. Multiorgan malformations including VSD, Hirschprung’s. Dysmorphism. Recurrent hypoglycaemia; hypogammaglobulinaemia, hyperphosphatasia. Dandy-Walker malformation, reduced white matter bulk. PGAP2 PGAP2 1 1 Philippe Campeau
Legend  

  Powered by LOVD v.3.0 Build 23
LOVD software ©2004-2020 Leiden University Medical Center 		There are currently no updates.