Details of Disease | DrugMAP

General Information of Disease (ID: DISE3L8A)

Disease Name	Myhre syndrome
Synonyms	MYHRE syndrome; laryngotracheal stenosis, arthropathy, prognathism, and short stature; Growth mental deficiency syndrome of Myhre; Growth-mental deficiency syndrome of Myhre; facial dysmorphism - intellectual deficit - short stature - hearing loss; LAPS syndrome; MYHRS; Myhre syndrome; facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Definition	Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DISMZUIT: Acromelic dysplasia DISD715V: Hereditary neurological disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISE3L8A: Myhre syndrome
Disease Identifiers	MONDO ID MONDO_0007688 MESH ID C537620 UMLS CUI C0796081 OMIM ID 139210 MedGen ID 167103 Orphanet ID 2588 SNOMED CT ID 699316006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMAD4	OTWQWCKG	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.