MCID: LDD001
MIFTS: 62

Ladd Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Smell/Taste diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases categories

Summaries for Ladd Syndrome

About this section


Genetics Home Reference:22 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 based summary: 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 Arrayand Array. 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 eye, salivary gland and bone, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Disease Ontology:9 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

About this section
Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 11DISEASES, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Ladd Syndrome, Aliases & Descriptions:

Name: Ladd Syndrome 9 10 42 22 46 11 48
Lacrimo-Auriculo-Dento-Digital Syndrome 42 21 22 61
Lacrimoauriculodentodigital Syndrome 9 22 48 61
Levy-Hollister Syndrome 9 22 48
 
Levy Hollister Syndrome 42 23
Lacrimoauriculodento-Digital Syndrome 42
Lacrimoauriculoradiodental Syndrome 48
Lard Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology9 DOID:0050331
OMIM46 149730
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet62 C0265269

Related Diseases for Ladd Syndrome

About this section

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



Diseases related to ladd syndrome

Symptoms for Ladd Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

149730

Clinical features from OMIM:

149730

Symptoms:

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

HPO human phenotypes related to Ladd Syndrome:

(show all 85)
id Description Frequency HPO Source Accession
1 overfolded helix hallmark (90%) HP:0000396
2 conductive hearing impairment hallmark (90%) HP:0000405
3 alacrima hallmark (90%) HP:0000522
4 abnormality of dental enamel hallmark (90%) HP:0000682
5 microdontia hallmark (90%) HP:0000691
6 triphalangeal thumb hallmark (90%) HP:0001199
7 external ear malformation hallmark (90%) HP:0008572
8 aplasia/hypoplasia of the earlobes hallmark (90%) HP:0009906
9 tibial deviation of toes hallmark (90%) HP:0100499
10 inflammatory abnormality of the eye hallmark (90%) HP:0100533
11 xerostomia typical (50%) HP:0000217
12 low-set, posteriorly rotated ears typical (50%) HP:0000368
13 sensorineural hearing impairment typical (50%) HP:0000407
14 visual impairment typical (50%) HP:0000505
15 telecanthus typical (50%) HP:0000506
16 carious teeth typical (50%) HP:0000670
17 preaxial hand polydactyly typical (50%) HP:0001177
18 preaxial foot polydactyly typical (50%) HP:0001841
19 clinodactyly of the 5th finger typical (50%) HP:0004209
20 abnormal nasal morphology typical (50%) HP:0005105
21 finger syndactyly typical (50%) HP:0006101
22 abnormality of the antihelix typical (50%) HP:0009738
23 reduced number of teeth typical (50%) HP:0009804
24 abnormality of the salivary glands typical (50%) HP:0010286
25 corneal erosion typical (50%) HP:0200020
26 nephropathy occasional (7.5%) HP:0000112
27 oral cleft occasional (7.5%) HP:0000202
28 abnormality of the fontanelles or cranial sutures occasional (7.5%) HP:0000235
29 broad forehead occasional (7.5%) HP:0000337
30 micrognathia occasional (7.5%) HP:0000347
31 high forehead occasional (7.5%) HP:0000348
32 abnormality of periauricular region occasional (7.5%) HP:0000383
33 choanal atresia occasional (7.5%) HP:0000453
34 deeply set eye occasional (7.5%) HP:0000490
35 ptosis occasional (7.5%) HP:0000508
36 taurodontia occasional (7.5%) HP:0000679
37 abnormality of the ribs occasional (7.5%) HP:0000772
38 radioulnar synostosis occasional (7.5%) HP:0002974
39 radial club hand occasional (7.5%) HP:0004059
40 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
41 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
42 nephrosclerosis occasional (7.5%) HP:0009741
43 displacement of the external urethral meatus occasional (7.5%) HP:0100627
44 autosomal dominant inheritance HP:0000006
45 renal agenesis HP:0000104
46 absence of stensen duct HP:0000198
47 xerostomia HP:0000217
48 hypertelorism HP:0000316
49 broad forehead HP:0000337
50 cupped ear HP:0000378
51 mixed hearing impairment HP:0000410
52 downslanted palpebral fissures HP:0000494
53 recurrent corneal erosions HP:0000495
54 telecanthus HP:0000506
55 alacrima HP:0000522
56 nasolacrimal duct obstruction HP:0000579
57 dacrocystitis HP:0000620
58 periorbital fullness HP:0000629
59 hypodontia HP:0000668
60 carious teeth HP:0000670
61 delayed eruption of primary teeth HP:0000680
62 hyperextensible skin HP:0000974
63 absent lacrimal punctum HP:0001092
64 2-3 finger syndactyly HP:0001233
65 small thenar eminence HP:0001245
66 hypoplasia of the radius HP:0002984
67 hypoplasia of the ulna HP:0003022
68 absent radius HP:0003974
69 clinodactyly of the 5th finger HP:0004209
70 bilateral triphalangeal thumbs HP:0005707
71 hypoplasia of dental enamel HP:0006297
72 lacrimal gland aplasia HP:0007656
73 lacrimal gland hypoplasia HP:0007732
74 hypoplasia of the lacrimal puncta HP:0007892
75 hypoplastic lacrimal duct HP:0007900
76 coronal hypospadias HP:0008743
77 radial deviation of the 3rd finger HP:0009462
78 absent proximal phalanx of thumb HP:0009637
79 aplasia of the parotid gland HP:0009740
80 nephrosclerosis HP:0009741
81 partial duplication of thumb phalanx HP:0009944
82 broad hallux HP:0010055
83 conical incisor HP:0011065
84 preaxial polydactyly HP:0100258
85 corneal perforation HP:0100583

Drugs & Therapeutics for Ladd Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Ladd Syndrome

Search NIH Clinical Center for Ladd Syndrome

Genetic Tests for Ladd Syndrome

About this section

Genetic tests related to Ladd Syndrome:

id Genetic test Affiliating Genes
1 Lacrimo-Auriculo-Dento-Digital Syndrome21 FGFR3
2 Levy-Hollister Syndrome23

Anatomical Context for Ladd Syndrome

About this section

MalaCards organs/tissues related to Ladd Syndrome:

32
Eye, Salivary gland, Bone, Kidney, Skin

Animal Models for Ladd Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Ladd Syndrome:

36
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

About this section

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

About this section

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

63
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

About this section
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

About this section

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 pathway37
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 Glioblastoma37
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

About this section

Compounds related to Ladd Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1su 5402609.7FGFR3, FGFR2
2pd 161570609.7FGFR2, FGFR3
3fiin 1 hydrochloride609.7FGFR2, FGFR3
4su5402449.7FGFR3, FGFR2
5pd 17307444 6010.6FGFR3, FGFR2
6palifermin44 1210.6FGFR2, FGFR3
7ponatinib50 1210.6FGFR3, FGFR2
8bromodeoxyuridine449.5FGF10, FGFR2
9thalidomide44 50 60 1212.5FGFR3, FGFR2
10sulfate44 2510.2FGFR3, FGFR2
11vegf449.0FGFR2, FGFR3, FGF10

GO Terms for genes affiliated with Ladd Syndrome

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ladd Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet