Pettigrew syndrome

Preferred Label : Pettigrew syndrome;

Symbol : PGS;

CISMeF acronym : MRXSF; MRXS21; MRXS5; MRX59; PGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRXS21; Mental retardation, X-linked 59; Mental retardation, X-linked, syndromic 5; MRX59; Mental retardation, X-linked, with dandy-walker malformation, basal ganglia disease, and seizures; MRXS5; Mental retardation, X-linked, syndromic 21; MRXSF; Mental retardation, X-linked, syndromic, fried type;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex 1, sigma-2 subunit gene (AP1S2, 300629.0001);

Prefixed ID : #304340;

Details

Origin ID

304340;

UMLS CUI

C0796254;

Automatic exact mappings (from CISMeF team)
- Contact with health services for preimplantation genetic screening [ICD-11 More detail]
- Picogram [NCIt concept]
- Picogram per Second [NCIt concept]
- mental retardation, X-Linked 59 [MeSH concept]
- mental retardation, X-Linked 59 [MeSH Supplementary Concept]
- picogram (qualifier value) [SNOMED CT concept]
- plastoglobule [GO term]
Currated CISMeF NLP mapping
- Mental retardation, X-linked, syndromic 5 [MeSH concept]
- Pettigrew Syndrome [NCIt concept]
- X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) [SNOMED CT concept]
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [ORDO Disease]
- mental retardation, X-linked, syndromic 5 [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability 5 [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability 5 [DO Concept]
False automatic mappings
- Papua New Guinea [NCIt concept]
Genes related to phenotype
- Adaptor-related protein complex 1, sigma-2 subunit [OMIM gene]
HPO term(s)
- Abnormality of the basal ganglia [HPO term]
- Cerebral calcification [HPO term]
- Choreoathetosis [HPO term]
- Coarse facial features [HPO term]
- Dandy-Walker malformation [HPO term]
- Deeply set eye [HPO term]
- Flexion contracture [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High-frequency hearing impairment [HPO term]
- Hydrocephalus [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Long face [HPO term]
- Mandibular prognathia [HPO term]
- Prominent forehead [HPO term]
- Prominent nose [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
- Thick vermilion border [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Fried syndrome [ORDO Disease]
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [ORDO Disease]
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental retardation, X-linked, syndromic 5 [MeSH concept]
- Pettigrew Syndrome [NCIt concept]
- X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) [SNOMED CT concept]
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [ORDO Disease]
- mental retardation, X-linked, syndromic 5 [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability 5 [DO Concept]

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