Schuurs-hoeijmakers syndrome

Preferred Label : Schuurs-hoeijmakers syndrome;

Symbol : SHMS;

CISMeF acronym : MRD17; SHMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder, autosomal dominant 17; MRD17;

Description : MRD17 was reported in 2 unrelated males with the same de novo mutation in PACS1 causing mental retardation, distinct craniofacial features, and genital abnormalities (Schuurs-Hoeijmakers et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphofurin acidic cluster sorting protein 1 gene (PACS1, 607492.0001);

Prefixed ID : #615009;

Details

Origin ID

615009;

UMLS CUI

C3554343;

Automatic exact mappings (from CISMeF team)
- Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome [ORDO Disease]
- PACS1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Schuurs-Hoeijmakers Syndrome [DO Concept]
- Schuurs-Hoeijmakers Syndrome [NCIt concept]
DO Cross reference
- Schuurs-Hoeijmakers Syndrome [DO Concept]
Genes related to phenotype
- Phosphofurin acidic cluster sorting protein 1 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bulbous nose [HPO term]
- Cavum septum pellucidum [HPO term]
- Cerebellar hypoplasia [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Diastema [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Large hands [HPO term]
- Long eyelashes [HPO term]
- Long foot [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pes planus [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Single umbilical artery [HPO term]
- Smooth philtrum [HPO term]
- Speech apraxia [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Volvulus [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome (disorder) [SNOMED CT concept]
- Schuurs-Hoeijmakers Syndrome [NCIt concept]

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