MCID: LDD001
MIFTS: 60

Ladd Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Smell/Taste diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases, Gastrointestinal diseases

Aliases & Classifications for Ladd Syndrome

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Aliases & Descriptions for Ladd Syndrome:

Name: Ladd Syndrome 49 10 11 45 23 12 51
Lacrimoauriculodentodigital Syndrome 10 23 51 67 65
Levy-Hollister Syndrome 10 22 23 51 67
Lacrimo-Auriculo-Dento-Digital Syndrome 45 22 23 67
Levy Hollister Syndrome 45 24
Congenital Duodenal Obstruction Due to Malrotation of Intestine 65
 
Lacrimoauriculodento-Digital Syndrome 45
Lacrimoduriculodentodigital Syndrome 22
Lacrimoauriculoradiodental Syndrome 51
Lard Syndrome 51
Ladds 67
Ladd 22

Characteristics:

Orphanet epidemiological data:

51
ladd syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
ladd syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 149730
Disease Ontology10 DOID:0050331
Orphanet51 2363
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0265269
MedGen34 C0265269
UMLS65 C0265269, C0266184

Summaries for Ladd Syndrome

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UniProtKB/Swiss-Prot:67 Lacrimo-auriculo-dento-digital syndrome: An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup- shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.

MalaCards based summary: 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 inflammatory abnormality of the eye, tibial deviation of toes and aplasia/hypoplasia of the earlobes. An important gene associated with Ladd Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Alzheimers Disease Pathway. Affiliated tissues include salivary gland, eye and kidney, and related mouse phenotypes are embryo and muscle.

Disease Ontology:10 An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.

Genetics Home Reference:23 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).

OMIM:49 Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and... (149730) more...

Related Diseases for Ladd Syndrome

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1fgf10-related lacrimo-auriculo-dento-digital syndrome12.6
2fgfr2-related lacrimo-auriculo-dento-digital syndrome12.6
3fgfr3-related lacrimo-auriculo-dento-digital syndrome12.6
4cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants11.0
5cyclotropia10.6FGFR2, FGFR3
6goiter, multinodular 1, with or without sertoli-leydig cell tumors10.5FGF10, FGFR2
7dacryocystocele10.5
8early-onset glaucoma10.5
9hypochondroplasia10.4FGF3, FGFR2, FGFR3
10lipoma10.4FGFR2, TP63
11microcephaly10.3FGF10, FGF8, FGFR2
12osteodysplasia familial anderson type10.3FGF9, FGFR3
13schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.3FGF23, FGFR3
14visual pathway disease10.3SATB2, TP63
15duodenal ulcer10.2FGF1, FGF10, FGFR2
16acute laryngopharyngitis10.2FGFR2, FGFR3, TP63
17heterotaxy10.2
18sodium channelopathy-related small fiber neuropathy10.1FGF23, GALNT3
19pfeiffer syndrome type 1, 2 and 310.1FGFR1, FGFR2
20duodenal obstruction10.1
21duodenitis10.1
22hypervitaminosis a10.1FGF23, GALNT3
23familial visceral myopathy with external ophthalmoplegia10.1FGF23, GALNT3
24intracranial hemorrhage in brain cerebrovascular malformations10.0FGF1, FGF3, FGFR2
25wells-jankovic syndrome10.0FGFR2, TP63
26tumoral calcinosis, hyperphosphatemic, familial10.0FGF23, GALNT3
27plagiocephaly and x-linked mental retardation10.0FGFR1, FGFR2, FGFR3
28dysbaric osteonecrosis10.0FGF8, SATB2, TP63
29flna-related periventricular nodular heterotopia10.0FGFR1, FGFR2, FGFR3
30split foot9.9
31split hand9.9
32bladder cancer, somatic9.9FGFR1, FGFR2, FGFR3
33peroxisome biogenesis disorder 2a9.9FGF23, GALNT3
34hypogonadotropic hypogonadism 2 with or without anosmia9.9FGFR1, FGFR2, FGFR3
35apert syndrome9.9FGFR1, FGFR2, FGFR3
36crouzon syndrome with acanthosis nigricans9.9FGFR1, FGFR2, FGFR3
37superior mesenteric artery syndrome9.9
38bone deterioration disease9.9FGFR1, FGFR2, FGFR3
39distal arthrogryposis9.9FGF23, GALNT3
40botulism9.9FGFR1, FGFR2, FGFR3
41limbal stem cell deficiency9.8
42ophthalmoplegia9.8
43diverticulitis of colon9.8FGF10, FGFR1, FGFR2, FGFR3
44antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.7FGF10, FGFR1, FGFR2, FGFR3
45thanatophoric dysplasia, type i9.7FGF3, FGFR1, FGFR2, FGFR3
46erythroderma desquamativum9.6FGF8, FGFR1
47craniosynostosis, type 19.6ARID1B, FGFR1, FGFR2, FGFR3
48critical limb ischemia9.5FGF8, FGFR1, FGFR2, FGFR3
49rectosigmoid junction neoplasm9.5FGF1, FGFR1
50lip disease9.5FGFR1, SATB2, TP63

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



Diseases related to ladd syndrome

Symptoms for Ladd Syndrome

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Symptoms by clinical synopsis from OMIM:

149730

Clinical features from OMIM:

149730

Symptoms:

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

Drugs & Therapeutics for Ladd Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in FemalesRecruitingNCT00547469Phase 2, Phase 3
2Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective StudyRecruitingNCT01591928
3BÜHLMANN fCAL™ ELISA - Aid in Differentiation of IBD From IBSRecruitingNCT02351635

Search NIH Clinical Center for Ladd Syndrome

Genetic Tests for Ladd Syndrome

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Genetic tests related to Ladd Syndrome:

id Genetic test Affiliating Genes
1 Lacrimo-Auriculo-Dento-Digital Syndrome22 FGFR3

Anatomical Context for Ladd Syndrome

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MalaCards organs/tissues related to Ladd Syndrome:

33
Salivary gland, Eye, Kidney, Bone, Skin, Endothelial, Testes

Animal Models for Ladd Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ladd Syndrome:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.1FGF10, FGF3, FGF8, FGFR1, FGFR2, SATB2
2MP:00053698.1FGF10, FGF8, FGF9, FGFR1, FGFR2, TP63
3MP:00053918.0FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
4MP:00053887.9FGF10, FGF23, FGF8, FGF9, FGFR2, FGFR3
5MP:00036317.5FGF1, FGF10, FGF14, FGF20, FGF3, FGF8
6MP:00053777.5FGF10, FGF20, FGF3, FGF8, FGF9, FGFR1
7MP:00053867.4FGF10, FGF14, FGF3, FGF8, FGF9, FGFR1
8MP:00028737.2FGF1, FGF10, FGF3, FGF8, FGF9, FGFR1
9MP:00053677.2FGF10, FGF23, FGF8, FGFR1, FGFR2, FGFR3
10MP:00107717.1FGF10, FGF20, FGF23, FGF9, FGFR1, FGFR2
11MP:00053827.0FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
12MP:00053796.9FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
13MP:00053896.7FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
14MP:00053976.6FGF1, FGF10, FGF23, FGF8, FGFR1, FGFR2
15MP:00053816.6FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
16MP:00107686.5FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
17MP:00053856.5FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
18MP:00053716.4FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
19MP:00053766.0FGF1, FGF10, FGF23, FGF8, FGF9, FGFR1
20MP:00053905.9FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
21MP:00053785.8FGF10, FGF14, FGF23, FGF3, FGF8, FGF9

Publications for Ladd Syndrome

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Articles related to Ladd Syndrome:

(show all 21)
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
21

Variations for Ladd Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1FGF10p.Cys106PheVAR_029888
2FGF10p.Ile156ArgVAR_029889
3FGFR2p.Ala628ThrVAR_029884
4FGFR2p.Ala648ThrVAR_029885
5FGFR3p.Asp513AsnVAR_029887

Clinvar genetic disease variations for Ladd Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1942G> A (p.Ala648Thr)single nucleotide variantPathogenicrs121918508GRCh37Chr 10, 123247549: 123247549
2FGFR2FGFR2, 3-BP DEL, 1947AGAdeletionPathogenic
3FGFR2NM_000141.4(FGFR2): c.1882G> A (p.Ala628Thr)single nucleotide variantPathogenicrs121918509GRCh37Chr 10, 123247609: 123247609
4FGFR3NM_000142.4(FGFR3): c.1537G> A (p.Asp513Asn)single nucleotide variantPathogenicrs121913112GRCh37Chr 4, 1807288: 1807288
5FGF10NM_004465.1(FGF10): c.317G> T (p.Cys106Phe)single nucleotide variantPathogenicrs104893885GRCh37Chr 5, 44388468: 44388468
6FGF10NM_004465.1(FGF10): c.467T> G (p.Ile156Arg)single nucleotide variantPathogenicrs104893886GRCh37Chr 5, 44305257: 44305257
7FGF10NM_004465.1(FGF10): c.409A> T (p.Lys137Ter)single nucleotide variantPathogenicrs104893887GRCh37Chr 5, 44310549: 44310549

Expression for genes affiliated with Ladd Syndrome

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Search GEO for disease gene expression data for Ladd Syndrome.

Pathways for genes affiliated with Ladd Syndrome

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Pathways related to Ladd Syndrome according to GeneCards Suite gene sharing:

(show all 43)
idSuper pathwaysScoreTop Affiliating Genes
19.4FGF10, FGF3, TP63
29.2FGFR1, FGFR2, FGFR3
39.2FGFR1, FGFR2, FGFR3
4
Show member pathways
9.2FGFR1, FGFR2, FGFR3
5
Show member pathways
9.2FGFR1, FGFR2, FGFR3
69.2FGFR1, FGFR2, FGFR3
78.8FGF10, FGF8, FGFR1, FGFR3
88.8FGF8, FGFR1, FGFR2, FGFR3
98.4FGF1, FGF3, FGFR1, FGFR2, FGFR3
108.3FGF1, FGF23, FGFR1, FGFR2
11
Show member pathways
7.6FGF1, FGF20, FGF23, FGF8, FGF9, FGFR3
12
Show member pathways
7.4FGF1, FGF20, FGF23, FGF8, FGF9, FGFR1
13
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
14
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
15
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
16
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
17
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
18
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
19
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
20
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
21
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
22
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
23
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
24
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
25
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
26
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
27
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
28
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
29
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
30
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
31
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
32
Show member pathways
6.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
33
Show member pathways
6.4FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
34
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
356.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
366.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
37
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
38
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
39
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
40
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
41
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
426.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
43
Show member pathways
6.0FGF1, FGF10, FGF20, FGF23, FGF3, FGF8

GO Terms for genes affiliated with Ladd Syndrome

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Biological processes related to Ladd Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 72)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell differentiation involved in lung developmentGO:006091510.7FGF10, FGFR2
2mammary gland bud formationGO:006061510.7FGF10, FGFR2
3fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.7FGF10, FGFR2
4lacrimal gland developmentGO:003280810.7FGF10, FGFR2
5organ growthGO:003526510.6FGF10, FGFR2
6limb bud formationGO:006017410.6FGF10, FGFR2
7negative regulation of cardiac muscle tissue developmentGO:005502610.5FGF3, FGF8
8prostatic bud formationGO:006051310.4FGF10, TP63
9female genitalia morphogenesisGO:004880710.4FGF10, TP63
10squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.4FGFR2, TP63
11mesonephros developmentGO:000182310.3FGF10, FGF8
12keratinocyte proliferationGO:004361610.2FGF10, TP63
13otic vesicle formationGO:003091610.1FGF10, FGF8, FGFR2
14fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
15salivary gland morphogenesisGO:00074359.9FGF10, FGFR1
16positive regulation of MAPK cascadeGO:00434109.9FGF10, FGF9, FGFR2, FGFR3
17positive regulation of phospholipase activityGO:00105189.8FGFR1, FGFR2, FGFR3
18positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.8FGF23, FGFR1
19anatomical structure morphogenesisGO:00096539.8FGF1, FGF3, FGF8
20lung-associated mesenchyme developmentGO:00604849.7FGF9, FGFR1, FGFR2
21positive regulation of cell divisionGO:00517819.6FGF1, FGF3, FGF9, FGFR2
22positive regulation of mesenchymal cell proliferationGO:00020539.6FGF9, FGFR1, FGFR2
23positive regulation of cardiac muscle cell proliferationGO:00600459.6FGF9, FGFR1, FGFR2
24epithelial cell differentiationGO:00308559.5FGF10, FGFR2, TP63
25orbitofrontal cortex developmentGO:00217699.4FGFR1, FGFR2
26phosphatidylinositol phosphorylationGO:00468549.4FGF10, FGF23, FGF8, FGF9
27positive regulation of ERK1 and ERK2 cascadeGO:00703749.3FGF1, FGF10, FGF8, FGFR2, FGFR3
28angiogenesisGO:00015259.2FGF1, FGF10, FGF9, FGFR2
29branching involved in salivary gland morphogenesisGO:00604459.2FGF10, FGF8, FGFR1, FGFR2
30organ inductionGO:00017599.2FGF1, FGF10, FGF8, FGFR1
31Ras protein signal transductionGO:00072658.9FGF10, FGF8, FGFR1, FGFR2, FGFR3
32embryonic limb morphogenesisGO:00303268.8FGF9, FGFR1, TP63
33peptidyl-tyrosine phosphorylationGO:00181088.7FGF1, FGF10, FGF8, FGF9, FGFR1
34lung developmentGO:00303248.6FGF10, FGF8, FGF9, FGFR1, FGFR2
35axon guidanceGO:00074118.5FGF10, FGF23, FGFR1, FGFR2, FGFR3
36positive regulation of GTPase activityGO:00435478.5FGF1, FGF10, FGF20, FGF3, FGF8, FGF9
37small GTPase mediated signal transductionGO:00072648.1FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
38MAPK cascadeGO:00001658.0FGF10, FGF20, FGF3, FGF8, FGF9, FGFR1
39positive regulation of cell proliferationGO:00082847.5FGF1, FGF10, FGF20, FGF3, FGF8, FGF9
40phosphatidylinositol-3-phosphate biosynthetic processGO:00360927.5FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
41Fc-epsilon receptor signaling pathwayGO:00380957.3FGF1, FGF10, FGF20, FGF23, FGF8, FGF9
42regulation of phosphatidylinositol 3-kinase signalingGO:00140667.0FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
43phosphatidylinositol-mediated signalingGO:00480157.0FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
44activation of MAPKK activityGO:00001867.0FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
45epidermal growth factor receptor signaling pathwayGO:00071736.9FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
46vascular endothelial growth factor receptor signaling pathwayGO:00480106.8FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
47insulin receptor signaling pathwayGO:00082866.8FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
48neurotrophin TRK receptor signaling pathwayGO:00480116.3FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
49fibroblast growth factor receptor signaling pathwayGO:00085436.2FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
50innate immune responseGO:00450876.1FGF1, FGF10, FGF20, FGF23, FGF3, FGF8

Molecular functions related to Ladd Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.5FGFR2, FGFR3
2protein tyrosine kinase activityGO:00047138.4FGF1, FGF3, FGFR1, FGFR2, FGFR3

Sources for Ladd Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
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29ICD9CM
30IUPHAR
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38MGI
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64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet