Details of Disease | DrugMAP

General Information of Disease (ID: DISH8TQ5)

Disease Name	LADD syndrome
Synonyms	LADD; Levy Hollister syndrome; Lacrimo-auriculo-dento-digital syndrome; LADD syndrome; lard syndrome; Levy-Hollister syndrome; Lacrimoauriculodento-digital syndrome; Lacrimoauriculoradiodental syndrome; LACRIMOAURICULODENTODIGITAL syndrome; lacrimoauriculodentodigital syndrome
Definition	A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.
Disease Hierarchy	DISFLSDF: Polydactyly-syndactyly-triphalangism DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS3HIWD: Autosomal dominant disease DISH8TQ5: LADD syndrome
Disease Identifiers	MONDO ID MONDO_0007872 MESH ID C538132 UMLS CUI C0265269 OMIM ID 149730 MedGen ID 78545 Orphanet ID 2363 SNOMED CT ID 23817003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR3	TTST7KB	Limited	Genetic Variation	[1]
FGF10	TTNPEFX	Supportive	Autosomal dominant	[2]
FGFR2	TTGJVQM	Supportive	Autosomal dominant	[3]
FGFR3	TTST7KB	Supportive	Autosomal dominant	[3]
FGFR2	TTGJVQM	Strong	Biomarker	[4]
FGF10	TTNPEFX	Definitive	Biomarker	[5]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGF10	OTDSATGA	Supportive	Autosomal dominant	[2]
FGFR2	OTLOPACK	Supportive	Autosomal dominant	[3]
FGFR3	OTSAXDIL	Supportive	Autosomal dominant	[3]
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References

1	Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.Int J Pediatr Otorhinolaryngol. 2017 Jun;97:192-196. doi: 10.1016/j.ijporl.2017.04.016. Epub 2017 Apr 12.
2	LADD syndrome is caused by FGF10 mutations. Clin Genet. 2006 Apr;69(4):349-54. doi: 10.1111/j.1399-0004.2006.00597.x.
3	Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26.
4	A requirement for Fgfr2 in middle ear development.Genesis. 2019 Jan;57(1):e23252. doi: 10.1002/dvg.23252. Epub 2018 Oct 4.
5	FGF and EDA pathways control initiation and branching of distinct subsets of developing nasal glands.Dev Biol. 2016 Nov 15;419(2):348-356. doi: 10.1016/j.ydbio.2016.08.030. Epub 2016 Aug 30.