Details of Disease | DrugMAP

General Information of Disease (ID: DISHPNJQ)

Disease Name	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Synonyms	PEBAT; encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT; encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISPN7D2: Inherited neurodegenerative disorder DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISP9UN3: Mendelian encephalopathy DISHPNJQ: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Disease Identifiers	MONDO ID MONDO_0044646 UMLS CUI C4310671 OMIM ID 617193 MedGen ID 934638 Orphanet ID 496641

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBCD	OTS4JKNQ	Strong	Autosomal recessive	[1]
TBCE	OTGBSTKS	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22.
2	Progesterone and oestradiol-17 beta in buffaloes showing gestational oestrus. Zentralbl Veterinarmed A. 1979 Aug;26(6):502-5. doi: 10.1111/j.1439-0442.1979.tb01624.x.