Details of Disease | DrugMAP

General Information of Disease (ID: DISITJVT)

Disease Name	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Synonyms	short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities; SAMS; SAMS syndrome; short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
Disease Hierarchy	DISUEW2W: Hereditary otorhinolaryngologic disease DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS5PU87: Skeletal system disorder DISITJVT: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Disease Identifiers	MONDO ID MONDO_0011227 MESH ID C566544 UMLS CUI C1865361 OMIM ID 602471 MedGen ID 355971 Orphanet ID 397623

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MAT1A	DEQ6NC9	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GSC	OT4DH7PR	Strong	Autosomal recessive	[2]
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References

1	Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.Am J Med Genet. 2002 Jul 15;110(4):359-64. doi: 10.1002/ajmg.10441.
2	SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. Am J Hum Genet. 2013 Dec 5;93(6):1135-42. doi: 10.1016/j.ajhg.2013.10.027. Epub 2013 Nov 27.