ORPHA:247262
Hyperphosphatasia-intellectual disability syndrome
Synonyms: Mabry syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperphosphatasia-intellectual disability syndrome | Mabry syndrome |
| fr | Syndrome d'hyperphosphatasie-déficience intellectuelle | Syndrome de Mabry |
| de | Hyperphosphatasie-Intelligenzminderung-Syndrom | Mabry-Syndrom |
| es | Síndrome de hiperfosfatasia-discapacidad intelectual | Síndrome de Mabry |
| it | Sindrome da iperfosfatasia e disabilità intellettia | HPMR · Sindrome di Mabry |
| nl | Hyperfosfatasie - intellectuele achterstand-syndroom | Syndroom van Mabry |
| pt | Síndrome de hiperfosfatemia-perturbação do desenvolvimento intelectual | Síndrome Mabry |
| pl | Zespół hipofosfatazji-niepełnosprawności intelektualnej | HPMR · Zespół Mabry'ego |
| cs | Syndrom zahrnující hyperfosfatázii a mentální retardaci | HPMR · Mabryho syndrom |
| uk | Синдром гіперфосфатазії-інтелектуальної недостатності | Синдром Мабрі |
| zh | 高磷酸酯酶智力残疾综合征 | 马布里综合症 |
| tr | Hiperfosfatazi-zihinsel yetersizlik sendromu | Mabry sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239300 | BTNT | validated | |
| OMIM | 614207 | BTNT | validated | |
| OMIM | 614749 | BTNT | validated | |
| OMIM | 615716 | BTNT | validated | |
| OMIM | 616025 | BTNT | validated | |
| OMIM | 616809 | BTNT | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C64.3 | NTBT | attributed | validated |
| MONDO | 0016596 | E | validated | |
| MeSH | C565495 | E | validated | |
| UMLS | C1855923 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309515Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PGAP3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23719 | ENSG00000161395 | 611801 | 17q12 | post-GPI attachment to proteins phospholipase 3 | 24439110[PMID] |
| PIGY | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28213 | ENSG00000255072 | 610662 | 4q22.1 | phosphatidylinositol glycan anchor biosynthesis class Y | 26293662[PMID] |
| PGAP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17893 | ENSG00000148985 | 615187 | 11p15.4 | post-GPI attachment to proteins 2 | 23561847[PMID]_23561846[PMID] |
| PIGL | Disease-causing germline mutation(s) in | Assessed | HGNC:8966 | ENSG00000108474 | 605947 | 17p11.2 | phosphatidylinositol glycan anchor biosynthesis class L | 25706356[PMID] |
| PIGO | Disease-causing germline mutation(s) in | Assessed | HGNC:23215 | ENSG00000165282 | 614730 | 9p13.3 | phosphatidylinositol glycan anchor biosynthesis class O | 22683086[PMID] |
| PIGV | Disease-causing germline mutation(s) in | Assessed | HGNC:26031 | ENSG00000060642 | 610274 | 1p36.11 | phosphatidylinositol glycan anchor biosynthesis class V | 24129430[PMID] |
| PIGW | Disease-causing germline mutation(s) in | Assessed | HGNC:23213 | ENSG00000277161 | 610275 | 17q12 | phosphatidylinositol glycan anchor biosynthesis class W | 24367057[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
62 annotations · validated 2019-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001250 | Seizure | |
| HP:0006118 | Shortening of all distal phalanges of the fingers | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000637 | Long palpebral fissure | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0002696 | Abnormal parietal bone morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0001251 | Ataxia | |
| HP:0000729 | Autistic behavior | |
| HP:0000193 | Bifid uvula | |
| HP:0000248 | Brachycephaly | |
| HP:0000289 | Broad philtrum | |
| HP:0000414 | Bulbous nose | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0030084 | Clinodactyly | |
| HP:0000280 | Coarse facial features | |
| HP:0000378 | Cupped ear | |
| HP:0040195 | Decreased head circumference | |
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0001288 | Gait disturbance | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0000218 | High palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001385 | Hip dysplasia | |
| HP:0000126 | Hydronephrosis | |
| HP:0000540 | Hypermetropia | |
| HP:0040194 | Increased head circumference | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000347 | Micrognathia | |
| HP:0001336 | Myoclonus | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001562 | Oligohydramnios | |
| HP:0000767 | Pectus excavatum | |
| HP:0001357 | Plagiocephaly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000311 | Round face | |
| HP:0002650 | Scoliosis | |
| HP:0000594 | Shallow anterior chamber | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0001195 | Single umbilical artery | |
| HP:0001792 | Small nail | |
| HP:0002558 | Supernumerary nipple | |
| HP:0001009 | Telangiectasia | |
| HP:0000391 | Thickened helices | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 22315194[PMID]_20578257[PMID]_3346785[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247262
- This record as JSON: /data/d/247262.json