Disease #00541 (HPMRS1;GPIBD2 (hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2))), OMIM:239300)

Official abbreviation HPMRS1;GPIBD2
Name hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2))
OMIM ID 239300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 32
Phenotype entries for this disease 11
Associated with 1 gene PIGV
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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     
00025920 - PubMed: Krawitz 2010, PubMed: Horn 2010 3 siblings of unrelated parents with hyperphosphatasia and severe mental retardation syndrome. - no Germany white - - - - HPMRS1;GPIBD2 Oldest patien twas a 4-year-old girl, her brothers were dizygotic twin brothers of patient 1 and were 18 months old at time of first evaluation. Facial anomalies comprised hypertelorism, large appearing eyes, a short nose with a broad nasal bridge and tip, thin upper lip with down-turned corners of the mouth. Clinically and radiologically, shortness of several distal phalanges could be demonstrated which mainly affected digits II and V. All patients had a severe global developmental delay without any speech development. At two years, patient 2 developed seizures. Older sister had congenital megacolon. Twin brothers presented sensorineural deafness. PIGV PIGV 1 3 Philippe Campeau
00025921 - PubMed: Krawitz 2010, PubMed: Rabe 1991 two sibsters, 3 and 6 year-old, with with hyperphosphatasia and severe mental retardation syndrome 1. F ? ? (unknown) - - - - - HPMRS1;GPIBD2 The patients presented developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. Facial features included hyperthelorism, wide palpebral fissures, broad nasal bridge, downturned corners of mouth. The prsented nail hypoplasia. PIGV PIGV 2 2 Philippe Campeau
00025922 - PubMed: Krawitz 2010, PubMed: Marcelis Two sisters with hyperphospatasia mental retardation 1. F yes Morocco African - - - - HPMRS1;GPIBD2 These siblings share severe mental retardation, epilepsy, anterior displaced anus, and hypoplastic nails. Fetal pads were noted on all fingers and toes. The nail hypoplasia was associated with hypoplasia of the distal phalanx of the fifth finger in the older sibling. Elder sister died suddenly at age 10 years. PIGV PIGV 1 2 Philippe Campeau
00025923 - PubMed: Krawitz 2010, PubMed: Thompson 2010 13-year-old proposita with hyperphophatasia and severe mental retardation. F no Germany white - - - - HPMRS1;GPIBD2 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. PIGV PIGV 1 1 Philippe Campeau
00025924 - PubMed: Horn 2011 Index case with Hyperphosphatasia-mental retardation syndrome 1. ? ? Poland white - - - - HPMRS1;GPIBD2 Clinical features included developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and anal atresia. PIGV PIGV 2 1 Philippe Campeau
00025925 - PubMed: Horn 2011 Index case with Hyperphosphatasia-mental retardation syndrome 1. ? ? Germany white - - - - HPMRS1;GPIBD2 Patient with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and Hirschsprung disease. PIGV PIGV 1 1 Philippe Campeau
00025926 - PubMed: Thompson 2012 Siblings with hyperphosphatasia with neurologic deficit. - no United Kingdom (Great Britain) white - - - - HPMRS1;GPIBD2 Elder sister was hypotonic at birth and had a round face, downturned mouth, and thickened helices. She developed tonic-clonic seizures at age 8 weeks. Renal ultrasound study showed unilateral hydronephrosis. She had an anteriorly placed anus and constipation, but a rectal biopsy showed normal innervation. Development was delayed and at the age 4 years. Long palpebral fissures, a prominent nasal bridge, simple cupped ears with thickened helices, and a tented upper lip with downturned corners of the mouth were observed. Brachytelephalangy was present with hypoplastic nails, especially on thumbs and little fingers. She developed a mild scoliosis. Her brother developed seizures after birth. He had Hirschsprung disease. He had simple cupped ears with thickened helices, a tented upper lip with downturned corners of the mouth, a high palate with bifid uvula, convergent squint, and glue ear. Development was profoundly delayed at age 5 years. Hypoplastic nails and diminutive terminal phalanges of all digits of both hands and feet suggested brachytelephalangy. He had problems swallowing secretions, and had multiple upper respiratory tract infections and was oxygen dependent. He died at 7 years of age. PIGV PIGV 2 1 Philippe Campeau
00025927 - PubMed: Thompson 2012 Index case with hyperphosphatasia with mental retardation. F yes Netherlands white - - - - HPMRS1;GPIBD2 At birth, features included a tented upper lip. Hands and feet were affected with hypoplasia of the terminal phalanges and missing nails on the second and fifth digits. At 2 years, Moderate to severe intellectual disability, hypotonia and growth delay were noted. Seizures developed after the age of 5 years. PIGV PIGV 2 1 Philippe Campeau
00025928 - PubMed: Thompson 2012 Index case with hyperphosphatasia with mental retardation 1. F no United States white - - - - HPMRS1;GPIBD2 Developmental delay was noted by the age of 16 months. Frequent generalized tonic-clonic seizures commenced at age 4 years. She had delayed psychomotor development and hypotonia, hypertelorism, a broad nasal bridge and tented upper lip. Her hands and feet were normal with no evidence of clinodactyly or brachytelephalangy. PIGV PIGV 1 1 Philippe Campeau
00155017 - PubMed: Fujiwara 2015 - F no Japan - - - - - HPMRS1;GPIBD2 - - PIGL 2 1 Philippe Campeau
00155025 - PubMed: Xue 2016 - F no China - - - - - HPMRS1;GPIBD2 - - PIGV 2 1 Philippe Campeau
00155027 - PubMed: Reynolds 2017 - M ? - - - - - - HPMRS1;GPIBD2 - - PIGV 2 1 Philippe Campeau
00155253 A-II-1 Knaus 2016:27120253 - F no - European American - - - - HPMRS1;GPIBD2 - - PGAP3 2 1 Philippe Campeau
00155254 B-II-2 PubMed: Knaus 2016 - F no - German - - - - HPMRS1;GPIBD2 - - PGAP3 2 1 Philippe Campeau
00155255 C-II-1 PubMed: Knaus 2016 - M no - French - - - - HPMRS1;GPIBD2 - - PGAP3 2 2 Philippe Campeau
00155256 C-II-2 PubMed: Knaus 2016 - F no - French - - - - HPMRS1;GPIBD2 - - PGAP3 2 1 Philippe Campeau
00155267 D-II-2 PubMed: Knaus 2016 - F no - British - - - - HPMRS1;GPIBD2 - - PGAP3 2 1 Philippe Campeau
00155268 E-II-2 PubMed: Knaus 2016 - F yes - Palestinian - - - - HPMRS1;GPIBD2 - - PGAP3 1 2 Philippe Campeau
00155269 E-II-4 PubMed: Knaus 2016 - F yes - Palestinian - - - - HPMRS1;GPIBD2 - - PGAP3 1 1 Philippe Campeau
00155270 F-II-3 PubMed: Knaus 2016 - M no - Japanese - - - - HPMRS1;GPIBD2 - - PGAP3 2 1 Philippe Campeau
00155271 Patient_1 PubMed: Abdel-Hamid 2017 - M yes Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 1 Philippe Campeau
00155272 Patient_2 PubMed: Abdel-Hamid 2017 - F yes Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 1 Philippe Campeau
00155273 Patient_3 PubMed: Abdel-Hamid 2017 - F yes Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 1 Philippe Campeau
00155274 Patient_4 PubMed: Abdel-Hamid 2017 - M yes Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 1 Philippe Campeau
00155275 Patient_5 PubMed: Abdel-Hamid 2017 - F yes Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 1 Philippe Campeau
00155276 Patient_6 PubMed: Abdel-Hamid 2017 - F no Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 1 Philippe Campeau
00155277 Patient_7 PubMed: Abdel-Hamid 2017 cousin with Patient_8 M yes Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 2 Philippe Campeau
00155278 Patient_8 PubMed: Abdel-Hamid 2017 cousin with Patient_7 F no Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 1 Philippe Campeau
00155279 Patient_9 PubMed: Abdel-Hamid 2017 - M yes Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 2 Philippe Campeau
00155280 Patient_10 PubMed: Abdel-Hamid 2017 - M yes Egypt - - - - - HPMRS1;GPIBD2 - PGAP3 PGAP3 1 1 Philippe Campeau
00207524 Patient 1 PubMed: Altassan et al., 2018 Individual presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase.  M no - - >10y - - Anti-epileptic medications HPMRS1;GPIBD2 Myoclonic seizures. Inguinal herna, hydrocele, strabismus. Global DD. Dysmorphic features (prominent forehead, high arched eyebrows and sparse on the outer third, nystagmus, mild telecanthus, uplifted ear lobes, open mouth with intermittent drooling). Pectus excavatum, clinodactyly involving the fifth digits, 4th and 5th toes bilaterally. reducible umbilical hernia, mild hepatomegaly, and ataxic gait. Brain MRI showed symmetrical bilateral patchy signal abnormalities in the periventricular zones in the parietal, occipital and frontal regions, white matter loss, and thin corpus callosum. Elevated ALP (968 U/L). No skin abnormalities. Normal hearing and heart evaluations. Normal Vitamin E and alpha-fetoprotein. PIGL PIGL 3 1 Philippe Campeau
00207525 Patient 2 PubMed: Altassan et al., 2018 Patient 1's younger brother M no - - >04y - - Anti-epileptic medications. Surgical correction of strabismus. HPMRS1;GPIBD2 Global DD. Tonic-clonic seizures. Strabismus (was surgically corrected). Coarse facial features (high hairlines, hypertelorism, epicanthal folds, horizontal nystagmus, depressed nasal bridge, delayed teeth eruption, everted and partially bifid lower lip, folded ears, and irregular hypopigmented skin margins surrounding the eyes and the nose.) Spastic lower limbs, bilateral brachydactyly, severe clinodactyly of both fifth fingers and toes and dry eczematous skin. High ALP level (454 U/L). No chest deformity or organomegaly. PIGL PIGL 2 1 Philippe Campeau
Legend   How to query  

  Powered by LOVD v.3.0 Build 28d
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.