Details of Disease | DrugMAP

General Information of Disease (ID: DISS66AG)

Disease Name	Hartsfield-Bixler-Demyer syndrome
Synonyms	holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate; HARTSFIELD syndrome; HRTFDS; Hartsfield-Bixler-Demyer syndrome; holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; holoprosencephaly-ectrodactyly-cleft lip palate syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS5Z8U6: Skeletal dysplasia DISS66AG: Hartsfield-Bixler-Demyer syndrome
Disease Identifiers	MONDO ID MONDO_0014196 MESH ID C564484 UMLS CUI C1845146 OMIM ID 615465 MedGen ID 335111 Orphanet ID 2117 SNOMED CT ID 766032007

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
FGFR1	TTRLW2X	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR1	OT4GLCXW	Definitive	Autosomal dominant	[1]
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References

1	FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28.