Details of Disease | DrugMAP

General Information of Disease (ID: DISSF7PU)

Disease Name	Short stature-brachydactyly-obesity-global developmental delay syndrome
Synonyms	SBIDDS; short stature, brachydactyly, intellectual developmental disability, and seizures
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 DISSF7PU: Short stature-brachydactyly-obesity-global developmental delay syndrome
Disease Identifiers	MONDO ID MONDO_0014944 UMLS CUI C4310689 OMIM ID 617157 MedGen ID 934656 Orphanet ID 464288

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRMT7	TTAR2P0	Strong	Autosomal recessive	[1]
PRMT7	TTAR2P0	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRMT7	OTE73PO1	Strong	Autosomal recessive	[1]
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References

1	Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5.
2	Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.Clin Genet. 2018 Mar;93(3):675-681. doi: 10.1111/cge.13137. Epub 2018 Feb 5.