Details of Disease | DrugMAP

General Information of Disease (ID: DISL2H13)

Disease Name	Neurodevelopmental disorder with alopecia and brain abnormalities
Synonyms	global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome; NEDABA; Bachmann-Bupp syndrome
Disease Hierarchy	DISNFJES: Disorder of polyamine metabolism DISYOKTG: Mendelian neurodevelopmental disorder DISL2H13: Neurodevelopmental disorder with alopecia and brain abnormalities
Disease Identifiers	MONDO ID MONDO_0033642 UMLS CUI C5436741 OMIM ID 619075 MedGen ID 1775930 Orphanet ID 544488 SNOMED CT ID 1222658006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ODC1	TTUMGNO	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ODC1	OTNDAGRR	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features. Am J Med Genet A. 2018 Dec;176(12):2548-2553. doi: 10.1002/ajmg.a.40523. Epub 2018 Sep 21.