Hyperphosphatasia with impaired intellectual development syndrome 1

Preferred Label : Hyperphosphatasia with impaired intellectual development syndrome 1;

Symbol : HPMRS1;

CISMeF acronym : GPIBD2; HPMRS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mabry syndrome; GPIBD2; Glycosylphosphatidylinositol biosynthesis defect 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol glycan, class V gene (PIGV, 610274.0001);

Laboratory abnormalities : Elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal); Hyperphosphatasia;

Prefixed ID : #239300;

Details

Origin ID

239300;

UMLS CUI

C4551502;

Currated CISMeF NLP mapping
- Hyperphosphatasemia with intellectual disability (disorder) [SNOMED CT concept]
- Hyperphosphatasia-intellectual disability syndrome [ORDO Disease]
- hyperphosphatasemia with mental retardation [SNOMED Notion]
- hyperphosphatasia with mental retardation [MeSH concept]
- hyperphosphatasia with mental retardation [MeSH Supplementary Concept]
- hyperphosphatasia with mental retardation syndrome [Disease (Nov.)]
Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class V protein [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal rectum morphology [HPO term]
- Abnormal renal morphology [HPO term]
- Abnormally large globe [HPO term]
- Absent speech [HPO term]
- Aganglionic megacolon [HPO term]
- Anteriorly placed anus [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Constipation [HPO term]
- Delayed myelination [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Delayed speech and language development [HPO term]
- Downturned corners of mouth [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Highly arched eyebrow [HPO term]
- Hydrocephalus [HPO term]
- Hyperconvex nail [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Long palpebral fissure [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Midface retrusion [HPO term]
- Plagiocephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Short toe [HPO term]
- Small nail [HPO term]
- Tapered finger [HPO term]
- Tented upper lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Hyperphosphatasia-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperphosphatasemia with intellectual disability (disorder) [SNOMED CT concept]
- Hyperphosphatasia-intellectual disability syndrome [ORDO Disease]
- hyperphosphatasemia with mental retardation [SNOMED Notion]
- hyperphosphatasia with mental retardation [MeSH Supplementary Concept]
- hyperphosphatasia with mental retardation [MeSH concept]
- hyperphosphatasia with mental retardation syndrome [Disease (Nov.)]

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