MCID: LDD001
MIFTS: 66

Ladd Syndrome malady

Eye diseases, Smell/Taste diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Ladd Syndrome

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8Disease Ontology, 21Genetics Home Reference, 46OMIM, 32MalaCards
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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 lacrimo-auriculo-dento-digital syndrome, is related to fgf10-related lacrimo-auriculo-dento-digital syndrome and fgfr2-related lacrimo-auriculo-dento-digital syndrome, and has symptoms including high forehead, chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis and anodontia/oligodontia/hypodontia. An important gene associated with Ladd Syndrome is FGF10 (fibroblast growth factor 10), and among its related pathways are Sorafenib Pharmacodynamics and VEGF Signaling Pathway. The compounds pd 161570 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include eye, salivary gland and bone, and related mouse phenotypes are digestive/alimentary and craniofacial.

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:46 149730

Aliases & Classifications for Ladd Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 20GeneTests, 22GTR, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
ladd syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

ladd syndrome 8 9 42 21 46 10 48
lacrimo-auriculo-dento-digital syndrome 42 20 21 48
lacrimoauriculodentodigital syndrome 8 21 60
levy-hollister syndrome 8 21 48
levy hollister syndrome 42 22
lacrimo-auriculo-radio-dental syndrome 48
lacrimoauriculodento-digital syndrome 42
lard syndrome 48


External Ids:

Disease Ontology8 DOID:0050331
OMIM46 149730
SNOMED-CT via Orphanet57 23817003
ICD10 via Orphanet26 Q87.8

Related Diseases for Ladd Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Ladd Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1fgf10-related lacrimo-auriculo-dento-digital syndrome10.7
2fgfr2-related lacrimo-auriculo-dento-digital syndrome10.7
3fgfr3-related lacrimo-auriculo-dento-digital syndrome10.7
4dacryocystocele10.5
5limbal stem cell deficiency10.0
6ophthalmoplegia10.0
7cleft lip10.0FGF10
8adenocarcinoma10.0FGFR2
9beare-stevenson cutis gyrata syndrome10.0FGFR2
10osteochondroma10.0FGFR3
11teratocarcinoma10.0FGFR2
12hyperparathyroidism10.0FGF3
13thanatophoric dysplasia10.0FGFR2, FGFR3
14fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR3
15jackson-weiss syndrome10.0FGFR2, FGFR3
16aorta atresia10.0FGFR2, FGF10
17chondrosarcoma10.0FGFR3, FGFR2
18muenke syndrome10.0FGFR2, FGFR3
19syndactyly10.0FGFR3, FGFR2
20crouzon syndrome10.0FGFR3, FGFR2
21saethre-chotzen syndrome10.0FGFR2, FGFR3
22acanthosis nigricans10.0FGFR3, FGFR2
23skeletal dysplasias10.0FGFR3, FGFR2
24endometrial carcinoma10.0FGFR2, FGF3, FGF10
25synostosis10.0FGFR3, FGF10, FGFR2
26acrocephalosyndactylia10.0FGFR2, FGF10, FGFR3
27infectious mononucleosis10.0FGFR3, FGF10, FGFR2
28developmental disabilities10.0FGFR2, FGFR3
29hypochondroplasia10.0FGFR3, FGF3, FGFR2
30kaposi's sarcoma10.0FGF3, FGFR2
31melanoma10.0FGFR3, FGF3, FGFR2
32breast cancer10.0FGFR2, FGF3, FGFR3
33strabismus10.0FGFR3, FGFR2
34bladder carcinoma10.0FGFR2, FGF3, FGFR3
35achondroplasia10.0FGFR2, FGF3, FGFR3, FGF9
36craniosynostosis10.0ARID1B, FGFR2, FGF10, FGFR3, FGF9

Graphical network of the top 20 diseases related to Ladd Syndrome:



Diseases related to ladd syndrome

Clinical Features for Ladd Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

149730

Clinical synopsis from OMIM:

149730

Symptoms:

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

Drugs & Therapeutics for Ladd Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ladd Syndrome

Drug clinical trials:

Search ClinicalTrials for Ladd Syndrome

Search NIH Clinical Center for Ladd Syndrome

Search CenterWatch for Ladd Syndrome

Genetic Tests for Ladd Syndrome

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Sources:
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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32MalaCards
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MalaCards organs/tissues related to Ladd Syndrome:

32
Eye, Salivary gland, Bone, Skin, Kidney, Heart

Animal Models for Ladd Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ladd Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7FGF9, FGFR3, FGF10, FGFR2
2MP:00053828.6FGF9, FGFR3, FGF10, FGFR2
3MP:00053888.4FGFR2, FGF10, FGFR3, FGF9
4MP:00053718.4FGFR2, FGF3, FGF10, FGFR3, FGF9
5MP:00053908.4FGFR2, FGF3, FGF10, FGFR3, FGF9
6MP:00028738.3FGFR2, FGF3, FGF10, FGFR3, FGF9
7MP:00053898.2FGFR2, FGF3, FGF10, FGFR3, FGF9
8MP:00036318.0FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
9MP:00053778.0FGF9, FGFR3, FGF10, FGF20, FGF3, FGFR2
10MP:00053787.7FGFR2, FGF14, FGF3, FGF10, FGFR3, FGF9

Publications for Ladd Syndrome

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50PubMed
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Articles related to Ladd Syndrome:

(show all 23)
idTitleAuthorsYear
1
Heterotaxy syndrome: is a prophylactic Ladd procedure necessary in asymptomatic patients? (22644418)
2013
2
Lacrimal-auricular-dental-digital (LADD) syndrome with diffuse ophthalmoplegia--a new finding. (22784266)
2012
3
Bimaxillary osteotomy in a young, edentulous patient with LADD syndrome. (20561472)
2010
4
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. (19863897)
2009
5
Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation. (19524722)
2009
6
Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. (18801668)
2008
7
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. (18056630)
2007
8
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. (16460812)
2006
9
LADD syndrome is caused by FGF10 mutations. (16630169)
2006
10
Mutations in different components of FGF signaling in LADD syndrome. (16501574)
2006
11
Limbal stem cell deficiency associated with LADD syndrome. (15883293)
2005
12
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. (15829693)
2005
13
The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. (10348439)
1999
14
LADD syndrome in five members of a three-generation family and prenatal diagnosis. (8031542)
1994
15
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. (8411061)
1993
16
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. (8110420)
1993
17
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. (2225531)
1990
18
LADD syndrome: a distinct entity? (3582415)
1987
19
Lacrimo-auriculo-dento-digital (LADD) syndrome. (3678282)
1987
20
LADD syndrome: report of new cases and review of the clinical spectrum. (3709571)
1986
21
Superior mesenteric artery syndrome associated with scoliosis treated by a modified Ladd procedure. (3998141)
1985
22
Phenotypic variation in LADD syndrome. (4078868)
1985
23
Lacrimo-auriculo-dento-digital (LADD) syndrome. (4469979)
1974

Genetic Variations for Ladd Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Ladd Syndrome:

62
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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1BioGPS, 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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49PharmGKB, 51QIAGEN, 53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Ladd Syndrome according to GeneCards/GeneDecks:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7FGFR3, FGFR2
29.7FGFR3, FGFR2
39.7FGFR3, FGFR2
4
Hide members
9.2FGF10, FGF3, FGFR2
5
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
6
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
7
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
8
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
9
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
10
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
11
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
12
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
13
Hide members
8.4FGFR2, FGF14, FGF20, FGF10, FGFR3
14
Hide members
8.4FGFR3, FGF10, FGF20, FGF14, FGFR2
158.0FGF14, FGF3, FGF20, FGF10, FGF9
16
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
17
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
18
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
19
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
20
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
21
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
22
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
23
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
24
Hide members
7.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
257.7FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
26
Hide members
7.7FGF9, FGFR3, FGF10, FGF20, FGF3, FGFR2
27
Hide members
7.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
28
Hide members
7.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
29
Development FGF-family signaling
Hide members
7.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
30
Hide members
7.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
31
Hide members
7.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
32
Hide members
7.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
337.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
347.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3
35
Hide members
7.2FGFR2, FGF14, FGF3, FGF20, FGF10, FGFR3

Compounds for genes affiliated with Ladd Syndrome

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Ladd Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pd 161570599.9FGFR2, FGFR3
2fiin 1 hydrochloride599.8FGFR2, FGFR3
3su 5402599.8FGFR2, FGFR3
4su5402449.8FGFR2, FGFR3
5pd 17307444 5910.7FGFR3, FGFR2
6Ponatinib 119.7FGFR3, FGFR2
7palifermin44 1110.6FGFR3, FGFR2
8vegf448.4FGF9, FGFR3, FGF10, FGF3, FGFR2
9heparin44 28 11 2411.3FGFR2, FGF3, FGF10, FGF9

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 regionGO:0055767.2FGF9, FGFR3, FGF10, FGF20, FGF3, FGF14

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

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell differentiation involved in lung developmentGO:06091510.1FGFR2, FGF10
2branch elongation involved in salivary gland morphogenesisGO:06066710.1FGFR2, FGF10
3mammary gland bud formationGO:06061510.1FGFR2, FGF10
4fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:06059510.1FGFR2, FGF10
5lacrimal gland developmentGO:03280810.1FGFR2, FGF10
6epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.1FGFR2, FGF10
7positive regulation of phospholipase activityGO:01051810.0FGFR3, FGFR2
8limb bud formationGO:06017410.0FGF10, FGFR2
9negative regulation of mitosisGO:04583910.0FGFR2, FGFR3
10lens fiber cell developmentGO:07030710.0FGFR3, FGFR2
11regulation of smoothened signaling pathwayGO:00858910.0FGF10, FGFR2
12inner ear receptor cell differentiationGO:06011310.0FGFR3, FGF20
13bone morphogenesisGO:06034910.0FGFR2, FGFR3
14embryonic digestive tract morphogenesisGO:04855710.0FGFR2, FGF10
15embryonic pattern specificationGO:0098809.9FGF10, FGFR2
16organ inductionGO:0017599.9FGF3, FGF10
17hair follicle morphogenesisGO:0310699.9FGFR2, FGF10
18somatic stem cell maintenanceGO:0350199.8FGFR3, FGF10
19positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:0309499.8FGF9, FGF10
20lung-associated mesenchyme developmentGO:0604849.8FGF9, FGFR2
21positive regulation of cardiac muscle cell proliferationGO:0600459.7FGFR2, FGF9
22chondrocyte differentiationGO:0020629.6FGF9, FGFR3
23otic vesicle formationGO:0309169.6FGFR2, FGF3, FGF10
24thymus developmentGO:0485389.6FGF3, FGF10
25positive regulation of mesenchymal cell proliferationGO:0020539.6FGF9, FGFR2
26positive regulation of epithelial cell proliferationGO:0506799.5FGF9, FGF10, FGFR2
27inner ear morphogenesisGO:0424729.4FGF9, FGFR2
28peptidyl-tyrosine phosphorylationGO:0181089.4FGFR3, FGFR2
29angiogenesisGO:0015259.3FGF9, FGF10, FGFR2
30positive regulation of cell divisionGO:0517819.3FGFR2, FGF3, FGF9
31positive regulation of ERK1 and ERK2 cascadeGO:0703749.3FGFR3, FGF10, FGF20, FGFR2
32positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.1FGF9, FGFR3, FGF10, FGFR2
33positive regulation of MAPK cascadeGO:0434109.1FGF9, FGFR3, FGF10, FGFR2
34positive regulation of cell proliferationGO:0082848.5FGFR2, FGF3, FGF20, FGFR3, FGF9
35cell-cell signalingGO:0072678.4FGFR2, FGF14, FGF3, FGF20, FGF9
36signal transductionGO:0071658.3FGF9, FGF20, FGF3, FGF14
37phosphatidylinositol-mediated signalingGO:0480158.2FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
38insulin receptor signaling pathwayGO:0082868.2FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
39Fc-epsilon receptor signaling pathwayGO:0380958.2FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
40epidermal growth factor receptor signaling pathwayGO:0071738.2FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
41neurotrophin TRK receptor signaling pathwayGO:0480118.2FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
42innate immune responseGO:0450878.2FGFR2, FGF3, FGF20, FGF10, FGFR3, FGF9
43fibroblast growth factor receptor signaling pathwayGO:0085437.7FGF9, FGFR2, FGF14, FGF3, FGF20, FGF10

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:0171349.7FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050079.4FGFR3, FGFR2
3heparin bindingGO:0082018.5FGFR2, FGF14, FGF10, FGF9
4fibroblast growth factor receptor bindingGO:0051048.1FGF9, FGF10, FGF20, FGF3, FGF14
5growth factor activityGO:0080838.0FGF14, FGF3, FGF20, FGF10, FGF9

Products for genes affiliated with Ladd Syndrome

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Sources for Ladd Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet