Details of Disease | DrugMAP

General Information of Disease (ID: DISIKKAL)

Disease Name	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
Synonyms	GDRM; KENNERKNECHT syndrome; agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations; GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; Kennerknecht syndrome; agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations
Disease Hierarchy	DISYKSRF: Genetic disease DISIKKAL: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
Disease Identifiers	MONDO ID MONDO_0032738 UMLS CUI C5193085 OMIM ID 618419 MedGen ID 1679397

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
PPP2R3C	OT7E6V9B	Strong	Autosomal recessive	[1]
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References

1	The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. Eur J Med Genet. 2018 Jul;61(7):393-398. doi: 10.1016/j.ejmg.2018.02.007. Epub 2018 Feb 22.