MCID: LDD001
MIFTS: 54

Ladd Syndrome malady

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

Summaries for Ladd Syndrome

Sources:
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 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 low set ears/posteriorly rotated ears, syndactyly of fingers/interdigital palm and ptosis. 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 heart and salivary gland, 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:47 149730

Aliases & Classifications for Ladd Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Smell/Taste, Bone, Skin


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
lacrimo-auriculo-dento-digital syndrome 43 20 21 49
lacrimoauriculodentodigital syndrome 8 21 61
levy-hollister syndrome 8 21 49
levy hollister syndrome 43 22
lacrimo-auriculo-radio-dental syndrome 49
lacrimoauriculodento-digital syndrome 43
lard syndrome 49


External Ids:

Disease Ontology8 DOID:0050331
OMIM47 149730
ICD10 via Orphanet26 Q87.8

Related Diseases for Ladd Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 41)
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
5fg syndrome10.2
6young syndrome10.2
7split foot10.2
8split hand10.2
9limbal stem cell deficiency10.1
10n syndrome10.1
11char syndrome10.1
12cleft lip10.0FGF10
13adenocarcinoma10.0FGFR2
14beare-stevenson cutis gyrata syndrome10.0FGFR2
15osteochondroma10.0FGFR3
16teratocarcinoma10.0FGFR2
17hyperparathyroidism10.0FGF3
18thanatophoric dysplasia10.0FGFR2, FGFR3
19fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR3
20jackson-weiss syndrome10.0FGFR2, FGFR3
21aorta atresia10.0FGFR2, FGF10
22chondrosarcoma10.0FGFR3, FGFR2
23muenke syndrome10.0FGFR2, FGFR3
24syndactyly10.0FGFR3, FGFR2
25crouzon syndrome10.0FGFR3, FGFR2
26saethre-chotzen syndrome10.0FGFR2, FGFR3
27acanthosis nigricans10.0FGFR3, FGFR2
28skeletal dysplasias10.0FGFR3, FGFR2
29endometrial carcinoma10.0FGFR2, FGF3, FGF10
30synostosis10.0FGFR3, FGF10, FGFR2
31acrocephalosyndactylia10.0FGFR2, FGF10, FGFR3
32infectious mononucleosis10.0FGFR3, FGF10, FGFR2
33developmental disabilities10.0FGFR2, FGFR3
34hypochondroplasia10.0FGFR3, FGF3, FGFR2
35kaposi's sarcoma10.0FGF3, FGFR2
36melanoma10.0FGFR3, FGF3, FGFR2
37breast cancer10.0FGFR2, FGF3, FGFR3
38strabismus10.0FGFR3, FGFR2
39bladder carcinoma10.0FGFR2, FGF3, FGFR3
40achondroplasia10.0FGFR2, FGF3, FGFR3, FGF9
41craniosynostosis10.0ARID1B, 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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

149730

Clinical synopsis from OMIM:

149730

Symptoms:

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

Drugs & Therapeutics for Ladd Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Ladd Syndrome:

33
Heart, Salivary gland

Animal Models for Ladd Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Ladd Syndrome

Sources:
51PubMed
See all sources

Articles related to Ladd Syndrome:

(show all 25)
idTitleAuthorsYear
1
Ladd's procedure in functional single ventricle and heterotaxy syndrome: does timing affect outcome? (23434253)
2013
2
Heterotaxy syndrome: is a prophylactic Ladd procedure necessary in asymptomatic patients? (22644418)
2013
3
Lacrimal-auricular-dental-digital (LADD) syndrome with diffuse ophthalmoplegia--a new finding. (22784266)
2012
4
Bimaxillary osteotomy in a young, edentulous patient with LADD syndrome. (20561472)
2010
5
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. (19863897)
2009
6
Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation. (19524722)
2009
7
Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. (18801668)
2008
8
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. (18056630)
2007
9
The WHO analgesic ladder and neuroleptic malignant syndrome. (17067339)
2006
10
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. (16460812)
2006
11
LADD syndrome is caused by FGF10 mutations. (16630169)
2006
12
Mutations in different components of FGF signaling in LADD syndrome. (16501574)
2006
13
Limbal stem cell deficiency associated with LADD syndrome. (15883293)
2005
14
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. (15829693)
2005
15
The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. (10348439)
1999
16
LADD syndrome in five members of a three-generation family and prenatal diagnosis. (8031542)
1994
17
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. (8411061)
1993
18
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. (8110420)
1993
19
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. (2225531)
1990
20
LADD syndrome: a distinct entity? (3582415)
1987
21
Lacrimo-auriculo-dento-digital (LADD) syndrome. (3678282)
1987
22
LADD syndrome: report of new cases and review of the clinical spectrum. (3709571)
1986
23
Superior mesenteric artery syndrome associated with scoliosis treated by a modified Ladd procedure. (3998141)
1985
24
Phenotypic variation in LADD syndrome. (4078868)
1985
25
Lacrimo-auriculo-dento-digital (LADD) syndrome. (4469979)
1974

Genetic Variations for Ladd Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Ladd Syndrome:

63
id Symbol AA change Variation SNP ID
1FGF10p.Cys106PheVAR_029888
2FGF10p.Ile156ArgVAR_029889
3FGFR2p.Ala628ThrVAR_029884
4FGFR2p.Ala648ThrVAR_029885
5FGFR3p.Asp513AsnVAR_029887

Expression for genes affiliated with Ladd Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
50PharmGKB, 52QIAGEN, 54Reactome, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore
See all sources

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

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
See all sources

Compounds related to Ladd Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pd 161570609.9FGFR2, FGFR3
2fiin 1 hydrochloride609.8FGFR2, FGFR3
3su 5402609.8FGFR2, FGFR3
4su5402459.8FGFR2, FGFR3
5pd 17307445 6010.7FGFR3, FGFR2
6Ponatinib 119.7FGFR3, FGFR2
7palifermin45 1110.6FGFR3, FGFR2
8vegf458.4FGF9, FGFR3, FGF10, FGF3, FGFR2
9heparin45 29 11 2411.3FGFR2, FGF3, FGF10, FGF9

GO Terms for genes affiliated with Ladd Syndrome

Sources:
16Gene Ontology
See all sources

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet