MCID: LDD001
MIFTS: 61

Ladd Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Smell/Taste diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases categories
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Summaries for Ladd Syndrome

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8Disease Ontology, 21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).

MalaCards: Ladd Syndrome, also known as lacrimoauriculodentodigital syndrome, is related to fgf10-related lacrimo-auriculo-dento-digital syndrome and fgfr2-related lacrimo-auriculo-dento-digital syndrome, and has symptoms including ptosis, choanal atresia and cleft lip and palate. An important gene associated with Ladd Syndrome is FGF10 (fibroblast growth factor 10), and among its related pathways are Angiogenesis and VEGF Signaling Pathway. The compounds su 5402 and pd 161570 have been mentioned in the context of this disorder. Affiliated tissues include salivary gland, eye and bone, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Disease Ontology:8 An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.

Description from OMIM:47 149730

Aliases & Classifications for Ladd Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 20GeneTests, 22GTR, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
ladd syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

ladd syndrome 8 9 43 21 47 10 49
lacrimoauriculodentodigital syndrome 8 21 49 62
lacrimo-auriculo-dento-digital syndrome 43 20 21
levy-hollister syndrome 8 21 49
levy hollister syndrome 43 22
lacrimoauriculodento-digital syndrome 43
lacrimoauriculoradiodental syndrome 49
lard syndrome 49


External Ids:

Disease Ontology8 DOID:0050331
OMIM47 149730
UMLS via Orphanet63 C0265269
SNOMED-CT via Orphanet59 23817003
ICD10 via Orphanet26 Q87.8

Related Diseases for Ladd Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ladd Syndrome:



Diseases related to ladd syndrome

Symptoms for Ladd Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

149730

Clinical features from OMIM:

149730

Symptoms:

49 (show all 52)
  • ptosis
  • choanal atresia
  • cleft lip and palate
  • taurodontia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • deepset eyes/enophthalmos
  • broad forehead
  • high forehead
  • large fontanelle/delayed fontanelle closure
  • anomaly/ectopia/hypoplasia/atresia of salivary glands/salivary duct
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • rib structure anomalies
  • stillbirth/neonatal death
  • hypospadias/epispadias/bent penis
  • renal disease/nephropathy
  • nephrosclerosis
  • agenesis/hypoplasia/aplasia of kidneys
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • thumb hypoplasia/aplasia/absence
  • radial club hand
  • radioulnar synostosis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • broad/bifid big toe
  • thumb anomalies (excluding hypoplasia)
  • clinodactyly of fifth finger
  • clinodactyly of toes
  • fingerlike/triphalangeal thumb
  • broad/bifid thumb
  • conductive deafness/hearing loss
  • small/hypoplastic/adherent/absent ear lobe
  • folded helix
  • external ear anomalies
  • enamel anomaly
  • complete/partial microdontia
  • tooth shape anomaly
  • defect/anomaly of lacrimal system
  • congenital alacrimia
  • autosomal dominant inheritance
  • corneal ulceration/perforation
  • preaxial polydactyly (hand)
  • syndactyly of fingers/interdigital palm
  • sensorineural deafness/hearing loss
  • antihelix anomaly
  • low set ears/posteriorly rotated ears
  • multiple caries
  • anodontia/oligodontia/hypodontia
  • oral synechiae/abnormal frenulae
  • mouth dryness/xerostomia
  • long/large/bulbous nose
  • telecanthus/canthal dystopy
  • visual loss/blindness/amblyopia
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis

Drugs & Therapeutics for Ladd Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ladd Syndrome

Search NIH Clinical Center for Ladd Syndrome

Genetic Tests for Ladd Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Ladd Syndrome:

id Genetic test Affiliating Genes
1 Lacrimo-Auriculo-Dento-Digital Syndrome20 FGFR3
2 Levy-Hollister Syndrome22

Anatomical Context for Ladd Syndrome

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33MalaCards
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MalaCards organs/tissues related to Ladd Syndrome:

33
Salivary gland, Eye, Bone, Skin, Kidney

Animal Models for Ladd Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Ladd Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1FGF10, FGFR3, FGFR2
2MP:00053778.4FGF10, FGFR3, FGF20, FGFR2
3MP:00036317.6FGFR2, FGF20, FGF14, FGFR3, FGF10

Publications for Ladd Syndrome

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52PubMed
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Articles related to Ladd Syndrome:

(show all 20)
idTitleAuthorsYear
1
Lacrimal-auricular-dental-digital (LADD) syndrome with diffuse ophthalmoplegia--a new finding. (22784266)
2012
2
Bimaxillary osteotomy in a young, edentulous patient with LADD syndrome. (20561472)
2010
3
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. (19863897)
2009
4
Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. (18801668)
2008
5
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. (18056630)
2007
6
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. (16460812)
2006
7
LADD syndrome is caused by FGF10 mutations. (16630169)
2006
8
Mutations in different components of FGF signaling in LADD syndrome. (16501574)
2006
9
Limbal stem cell deficiency associated with LADD syndrome. (15883293)
2005
10
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. (15829693)
2005
11
The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. (10348439)
1999
12
LADD syndrome in five members of a three-generation family and prenatal diagnosis. (8031542)
1994
13
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. (8411061)
1993
14
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. (8110420)
1993
15
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. (2225531)
1990
16
LADD syndrome: a distinct entity? (3582415)
1987
17
Lacrimo-auriculo-dento-digital (LADD) syndrome. (3678282)
1987
18
LADD syndrome: report of new cases and review of the clinical spectrum. (3709571)
1986
19
Phenotypic variation in LADD syndrome. (4078868)
1985
20
Lacrimo-auriculo-dento-digital (LADD) syndrome. (4469979)
1974

Variations for Ladd Syndrome

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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Ladd Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FGF10p.Cys106PheVAR_029888
2FGF10p.Ile156ArgVAR_029889
3FGFR2p.Ala628ThrVAR_029884
4FGFR2p.Ala648ThrVAR_029885
5FGFR3p.Asp513AsnVAR_029887

Expression for genes affiliated with Ladd Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ladd Syndrome

Search GEO for disease gene expression data for Ladd Syndrome.

Pathways for genes affiliated with Ladd Syndrome

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Sources:
50PathCards, 5Cell Signaling Technology, 51PharmGKB, 57SinoBiological, 61Tocris Bioscience, 53QIAGEN, 38NCBI BioSystems Database, 54R&D Systems, 55Reactome, 30KEGG, 60Thomson Reuters
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Pathways related to Ladd Syndrome according to GeneCards/GeneDecks:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5FGFR3, FGFR2
2
Show member pathways
9.5FGFR3, FGFR2
3
Show member pathways
9.5FGFR3, FGFR2
49.5FGFR2, FGFR3
59.5FGFR3, FGFR2
69.5FGFR2, FGFR3
7
Show member pathways
9.5FGFR3, FGFR2
89.5FGFR3, FGFR2
9
Show member pathways
9.4FGF20, FGFR3
108.9FGF10, FGF14, FGF20
118.5FGF10, FGFR3, FGF20, FGFR2
12
Show member pathways
8.5FGF10, FGFR3, FGF20, FGFR2
13
Show member pathways
8.5FGFR2, FGF20, FGFR3, FGF10
14
Show member pathways
8.5FGFR2, FGF20, FGFR3, FGF10
15
Show member pathways
8.5FGFR2, FGF20, FGFR3, FGF10
16
Show member pathways
8.5FGFR2, FGF20, FGFR3, FGF10
17
Show member pathways
8.5FGFR2, FGF20, FGFR3, FGF10
18
Show member pathways
8.5FGFR2, FGF20, FGFR3, FGF10
19
Show member pathways
8.5FGFR2, FGF20, FGFR3, FGF10
20
Show member pathways
8.5FGF10, FGFR3, FGF20, FGFR2
21
Show member pathways
7.9FGF10, FGFR3, FGF14, FGF20, FGFR2
22
Show member pathways
MAPK signaling pathway38
7.9FGF10, FGFR3, FGF14, FGF20, FGFR2
23
Show member pathways
7.9FGF10, FGFR3, FGF14, FGF20, FGFR2
24
Show member pathways
7.9FGF10, FGFR3, FGF14, FGF20, FGFR2
25
Show member pathways
7.9FGF10, FGFR3, FGF14, FGF20, FGFR2
26
Show member pathways
7.9FGF10, FGFR3, FGF14, FGF20, FGFR2
27
Show member pathways
7.9FGF10, FGFR3, FGF14, FGF20, FGFR2
28
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
297.9FGFR2, FGF20, FGF14, FGFR3, FGF10
30
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
317.9FGFR2, FGF20, FGF14, FGFR3, FGF10
32
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
33
Show member pathways
Signaling Pathways in Glioblastoma38
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
34
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
35
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
36
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
37
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
38
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
39
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10
40
Show member pathways
7.9FGFR2, FGF20, FGF14, FGFR3, FGF10

Compounds for genes affiliated with Ladd Syndrome

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Sources:
61Tocris Bioscience, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Ladd Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1su 5402619.7FGFR3, FGFR2
2pd 161570619.7FGFR2, FGFR3
3fiin 1 hydrochloride619.7FGFR2, FGFR3
4su5402459.7FGFR3, FGFR2
5pd 17307445 6110.6FGFR3, FGFR2
6palifermin45 1110.6FGFR2, FGFR3
7ponatinib51 1110.6FGFR3, FGFR2
8bromodeoxyuridine459.5FGF10, FGFR2
9thalidomide45 51 61 1112.5FGFR3, FGFR2
10sulfate45 2410.2FGFR3, FGFR2
11vegf459.0FGFR2, FGFR3, FGF10

GO Terms for genes affiliated with Ladd Syndrome

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16Gene Ontology
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Cellular components related to Ladd Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.5FGF10, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160239.4FGFR2, FGFR3
3cell surfaceGO:0099869.1FGF10, FGFR3, FGFR2
4extracellular regionGO:0055768.0FGF10, FGFR3, FGF14, FGF20, FGFR2
5nucleusGO:0056347.4FGF10, FGFR3, FGF14, FGFR2, ARID1B

Biological processes related to Ladd Syndrome according to GeneCards/GeneDecks:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell differentiation involved in lung developmentGO:0609159.9FGFR2, FGF10
2branch elongation involved in salivary gland morphogenesisGO:0606679.9FGFR2, FGF10
3mammary gland bud formationGO:0606159.9FGFR2, FGF10
4fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:0605959.9FGFR2, FGF10
5lacrimal gland developmentGO:0328089.9FGF10, FGFR2
6epithelial cell proliferation involved in salivary gland morphogenesisGO:0606649.9FGF10, FGFR2
7otic vesicle formationGO:0309169.8FGFR2, FGF10
8positive regulation of phospholipase activityGO:0105189.8FGFR2, FGFR3
9lens fiber cell developmentGO:0703079.8FGFR2, FGFR3
10limb bud formationGO:0601749.8FGF10, FGFR2
11regulation of smoothened signaling pathwayGO:0085899.8FGFR2, FGF10
12negative regulation of mitosisGO:0458399.8FGFR3, FGFR2
13embryonic digestive tract morphogenesisGO:0485579.8FGF10, FGFR2
14inner ear receptor cell differentiationGO:0601139.7FGF20, FGFR3
15somatic stem cell maintenanceGO:0350199.7FGF10, FGFR3
16embryonic pattern specificationGO:0098809.7FGFR2, FGF10
17bone morphogenesisGO:0603499.7FGFR3, FGFR2
18hair follicle morphogenesisGO:0310699.7FGF10, FGFR2
19negative regulation of epithelial cell proliferationGO:0506809.5FGFR3, FGFR2
20protein autophosphorylationGO:0467779.5FGFR3, FGFR2
21positive regulation of epithelial cell proliferationGO:0506799.4FGF10, FGFR2
22positive regulation of canonical Wnt signaling pathwayGO:0902639.4FGF10, FGFR3, FGFR2
23positive regulation of MAPK cascadeGO:0434109.4FGFR2, FGFR3, FGF10
24peptidyl-tyrosine phosphorylationGO:0181089.2FGFR3, FGFR2
25positive regulation of cell proliferationGO:0082848.9FGFR2, FGF20, FGFR3
26positive regulation of ERK1 and ERK2 cascadeGO:0703748.9FGFR2, FGF20, FGFR3, FGF10
27phosphatidylinositol-mediated signalingGO:0480158.9FGFR2, FGF20, FGFR3, FGF10
28insulin receptor signaling pathwayGO:0082868.9FGF10, FGFR3, FGF20, FGFR2
29Fc-epsilon receptor signaling pathwayGO:0380958.9FGFR2, FGF20, FGFR3, FGF10
30epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR2, FGF20, FGFR3, FGF10
31neurotrophin TRK receptor signaling pathwayGO:0480118.8FGFR2, FGF20, FGFR3, FGF10
32cell-cell signalingGO:0072678.7FGFR3, FGF14, FGF20, FGFR2
33innate immune responseGO:0450878.7FGFR2, FGF20, FGFR3, FGF10
34fibroblast growth factor receptor signaling pathwayGO:0085438.4FGF10, FGFR3, FGF14, FGF20, FGFR2

Molecular functions related to Ladd Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.6FGFR3, FGFR2
2protein tyrosine kinase activityGO:0047139.5FGFR3, FGFR2
3fibroblast growth factor bindingGO:0171349.2FGFR3, FGFR2
4fibroblast growth factor receptor bindingGO:0051049.0FGF10, FGF14, FGF20
5heparin bindingGO:0082019.0FGFR2, FGF14, FGF10
6growth factor activityGO:0080838.8FGF10, FGF14, FGF20

Products for genes affiliated with Ladd Syndrome

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Sources for Ladd Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet