Details of Disease | DrugMAP

General Information of Disease (ID: DISRVSZF)

Disease Name	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Synonyms	Rapp-Hodgkins syndrome; cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects; Ankyloblepharon ectodermal defects cleft lip/palate; ankyloblepharon-ectodermal defects-cleft LIP/palate; Seres-Santamaria Arimany Muniz syndrome; AEC syndrome; AEC Syndrome; Hay-Wells syndrome; Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
Definition	An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Disease Hierarchy	DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISLRS4M: Ectodermal dysplasia DISRVSZF: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Disease Identifiers	MONDO ID MONDO_0007124 MESH ID C535847 UMLS CUI C0406709 OMIM ID 106260 MedGen ID 98032 Orphanet ID 1071 SNOMED CT ID 55821006

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
PGRMC1	TTY3LAZ	Strong	Altered Expression	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SFTPC	OTIZJD09	Strong	Genetic Variation	[2]
TM4SF5	OTPAV531	Strong	Biomarker	[3]
TP63	OT0WOOKQ	Definitive	Autosomal dominant	[4]
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References

1	Dexamethasone induces primary amnion epithelial cell senescence through telomere-P21 associated pathway?"Martin LF. da Silva MG
2	Efferocytosis of apoptotic alveolar epithelial cells is sufficient to initiate lung fibrosis.Cell Death Dis. 2018 Oct 17;9(11):1056. doi: 10.1038/s41419-018-1074-z.
3	TM4SF5-mediated CD44v8-10 splicing variant promotes survival of type II alveolar epithelial cells during idiopathic pulmonary fibrosis.Cell Death Dis. 2019 Sep 9;10(9):645. doi: 10.1038/s41419-019-1878-5.
4	Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet. 2000 Jul;67(1):59-66. doi: 10.1086/302972. Epub 2000 Jun 5.