Details of Disease | DrugMAP

General Information of Disease (ID: DISA0YS0)

Disease Name	Pili torti-developmental delay-neurological abnormalities syndrome
Synonyms	pili torti and developmental delay; pili torti developmental delay neurological abnormalities; abnormal hair, joint laxity, and developmental delay
Definition	Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISA0YS0: Pili torti-developmental delay-neurological abnormalities syndrome
Disease Identifiers	MONDO ID MONDO_0009871 MESH ID C537398 UMLS CUI C1849811 OMIM ID 261990 MedGen ID 342358 Orphanet ID 2891

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
HEPHL1	OTXFCK1B	Limited	Unknown	[1]
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References

1	Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. PLoS Genet. 2019 May 24;15(5):e1008143. doi: 10.1371/journal.pgen.1008143. eCollection 2019 May.