Smith-magenis syndrome

Preferred Label : Smith-magenis syndrome;

Symbol : SMS;

CISMeF acronym : SMCR; SMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 17p11.2 deletion syndrome;

Included titles and symbols : Smith-magenis syndrome chromosome region; SMCR;

Inheritance : Autosomal dominant; Isolated cases;

Molecular basis : Caused by mutation in the retinoic acid-induced gene 1 (RAI1, 607642.0004); Contiguous gene deletion syndrome caused by deletion (650kb-3.7Mb) of 17p11.2;

Laboratory abnormalities : Interstitial deletion of 17p11.2 (most common is 3.7Mb);

Prefixed ID : #182290;

Details

Origin ID

182290;

UMLS CUI

C0795864;

Automatic exact mappings (from CISMeF team)
- RAI1 wt Allele [NCIt concept]
- Skolt Sami Language [NCIt concept]
- Stiff person spectrum disorder [ORDO Disease]
- retinoic acid induced 1 [ORDO Gene]
- retinoic acid induced 1 [HGNC gene]
- spermine synthase [MeSH concept]
- spermine synthase [HGNC gene]
- spermine synthase [ORDO Gene]
- symbol withdrawn SMCR [HGNC gene]
- text messaging [MeSH Descriptor]
Currated CISMeF NLP mapping
- 17p11.2 monosomy [MeSH concept]
- Smith-Magenis Syndrome [NCIt concept]
- Smith-Magenis syndrome [PASCAL descriptor]
- Smith-Magenis syndrome [DO Concept]
- Smith-Magenis syndrome [ICD-11 More detail]
- Smith-Magenis syndrome [MedDRA Preferred Term]
- Smith-Magenis syndrome [MeSH Descriptor]
- Smith-Magenis syndrome [MeSH concept]
- Smith-Magenis syndrome [ORDO Disease]
- Smith-Magenis syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Smith-Magenis syndrome [DO Concept]
Genes related to phenotype
- Retinoic acid-induced gene 1 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal renal morphology [HPO term]
- Abnormal tracheobronchial morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the eye [HPO term]
- Abnormality of the forearm [HPO term]
- Abnormality of the immune system [HPO term]
- Abnormality of the larynx [HPO term]
- Abnormality of the outer ear [HPO term]
- Abnormality of the thyroid gland [HPO term]
- Abnormality of the urinary system [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad face [HPO term]
- Broad palm [HPO term]
- Constipation [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- EEG abnormality [HPO term]
- Everted upper lip vermilion [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Head-banging [HPO term]
- Hearing impairment [HPO term]
- Hoarse voice [HPO term]
- Hyperactivity [HPO term]
- Hyperacusis [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hyporeflexia [HPO term]
- Impaired pain sensation [HPO term]
- Increased body weight [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Midface retrusion [HPO term]
- Morphological abnormality of the middle ear [HPO term]
- Onychotillomania [HPO term]
- Oral cleft [HPO term]
- Peripheral neuropathy [HPO term]
- Pes planus [HPO term]
- Polyembolokoilamania [HPO term]
- Retinal detachment [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self hugging [HPO term]
- Self-mutilation [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Sleep disturbance [HPO term]
- Sleep-wake inversion [HPO term]
- Speech delay [HPO term]
- Sporadic [HPO term]
- Synophrys [HPO term]
- Velopharyngeal insufficiency [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Abnormal nerve conduction velocity [HPO term]
ORDO concept(s)
- Smith-Magenis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Smith-Magenis Syndrome [NCIt concept]
- Smith-Magenis syndrome [ORDO Disease]
- Smith-Magenis syndrome [MeSH Descriptor]
- Smith-Magenis syndrome [MeSH concept]
- Smith-Magenis syndrome [DO Concept]
- Smith-Magenis syndrome [PASCAL descriptor]
- Smith-Magenis syndrome [ICD-11 More detail]
- Smith-Magenis syndrome [MedDRA Preferred Term]
- Smith-Magenis syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- chromosome 17p deletion syndrome [Disease (Nov.)]

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