MCID: LDD001
MIFTS: 60

Ladd Syndrome malady

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

Aliases & Classifications for Ladd Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Ladd Syndrome:

Name: Ladd Syndrome 49 10 11 45 22 23 12 51
Lacrimoauriculodentodigital Syndrome 10 23 51 65 67
Lacrimo-Auriculo-Dento-Digital Syndrome 45 22 23 67
Levy-Hollister Syndrome 10 23 51 67
Levy Hollister Syndrome 45 22 24
 
Lacrimoauriculodento-Digital Syndrome 45
Lacrimoduriculodentodigital Syndrome 22
Lacrimoauriculoradiodental Syndrome 51
Lard Syndrome 51
Ladds 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

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 overfolded helix, conductive hearing impairment and alacrima. An important gene associated with Ladd Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Akt Signaling Pathway and Central carbon metabolism in cancer. Affiliated tissues include salivary gland, eye and kidney, and related mouse phenotypes are muscle and respiratory system.

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 68)
idRelated DiseaseScoreTop Affiliating Genes
1fgf10-related lacrimo-auriculo-dento-digital syndrome10.8
2fgfr2-related lacrimo-auriculo-dento-digital syndrome10.8
3fgfr3-related lacrimo-auriculo-dento-digital syndrome10.8
4dacryocystocele10.6
5early-onset glaucoma10.6
6heterotaxy10.4
7duodenitis10.3
8duodenal obstruction10.3
9split foot10.3
10split hand10.3
11von economo's disease10.2FGFR2, FGFR3
12beare-stevenson cutis gyrata syndrome10.2FGFR2, FGFR3
13barbiturate abuse10.2FGFR2, FGFR3
14superior mesenteric artery syndrome10.2
15lipoma10.2FGFR2, TP63
16nephrogenic adenoma10.1FGF10, FGF8, FGFR2
17schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.1FGF23, FGFR3
18limbal stem cell deficiency10.1
19ophthalmoplegia10.1
20autosomal genetic disease10.1FGF10, FGFR2, FGFR3
21osteomalacia10.1FGF1, FGF10, FGFR2
22syndromic intellectual disability10.1FGFR2, FGFR3, TP63
23pfeiffer syndrome type 1, 2 and 310.1FGFR1, FGFR2
24cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.0
25acute pancreatitis10.0
26choledochal cyst10.0
27situs inversus10.0
28congenital heart disease10.0
29intestinal obstruction10.0
30pancreatitis10.0
31peritonitis10.0
32scoliosis10.0
33chylous ascites10.0
34recurrent acute pancreatitis10.0
35bacterial esophagitis10.0SATB2, TP63
36hypervitaminosis a10.0FGF23, GALNT3
37tumoral calcinosis, hyperphosphatemic, familial10.0FGF23, GALNT3
38flna-related periventricular nodular heterotopia10.0FGFR1, FGFR2, FGFR3
39plagiocephaly and x-linked mental retardation10.0FGFR1, FGFR2, FGFR3
40osteoglophonic dysplasia10.0FGFR1, FGFR2, FGFR3
41muenke syndrome10.0FGFR1, FGFR2, FGFR3
42jackson-weiss syndrome10.0FGFR1, FGFR2, FGFR3
43neonatal abstinence syndrome10.0FGFR1, FGFR2, FGFR3
44thanatophoric dysplasia, type i10.0FGFR1, FGFR2, FGFR3
45focal myositis10.0FGF23, FGFR2, GALNT3
46yellow nail syndrome10.0FGFR1, FGFR2, FGFR3
47synovitis9.9FGFR1, FGFR2, FGFR3
48bone ewing's sarcoma9.9FGFR1, FGFR2, FGFR3
49kaposi sarcoma9.9FGF1, FGF3, FGFR2
50spinocerebellar ataxia 59.9FGFR1, FGFR2

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 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

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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
2 Levy-Hollister Syndrome24

Anatomical Context for Ladd Syndrome

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MalaCards organs/tissues related to Ladd Syndrome:

33
Salivary gland, Eye, Kidney, Skin, Bone

Animal Models for Ladd Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ladd Syndrome:

38 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2FGF10, FGF8, FGF9, FGFR1, FGFR2, TP63
2MP:00053888.1FGF10, FGF23, FGF9, FGFR2, FGFR3, SATB2
3MP:00053778.0FGF10, FGF20, FGF3, FGF8, FGF9, FGFR1
4MP:00053807.9FGF10, FGF3, FGF8, FGFR1, FGFR2, SATB2
5MP:00053917.9FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
6MP:00053867.4FGF14, FGF3, FGF8, FGF9, FGFR1, FGFR2
7MP:00053827.3FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
8MP:00028737.3FGF1, FGF10, FGF3, FGF8, FGF9, FGFR1
9MP:00053677.3FGF10, FGF23, FGF8, FGFR1, FGFR2, FGFR3
10MP:00036317.1FGF1, FGF10, FGF14, FGF20, FGF3, FGF8
11MP:00107717.1FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3
12MP:00053857.1FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
13MP:00053797.1FGF10, FGF8, FGF9, FGFR1, FGFR2, GALNT3
14MP:00053896.8FGF10, FGF23, FGF3, FGF8, FGF9, FGFR2
15MP:00053766.7FGF1, FGF10, FGF23, FGF8, FGF9, FGFR2
16MP:00107686.6FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
17MP:00053816.6FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
18MP:00053906.4FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
19MP:00053716.3FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
20MP:00053786.2FGF10, FGF14, FGF23, FGF3, FGF8, FGF9

Publications for Ladd Syndrome

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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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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

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 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2FGFR1, FGFR2, FGFR3
29.2FGFR1, FGFR2, FGFR3
3
Show member pathways
9.2FGFR1, FGFR2, FGFR3
49.2FGFR1, FGFR2, FGFR3
59.2FGFR1, FGFR2, FGFR3
68.8FGF8, FGFR1, FGFR2, FGFR3
7
Angiogenesis (CST)
Show member pathways
8.6FGF8, FGFR1, FGFR2, FGFR3
88.6FGF1, FGFR1, FGFR2, FGFR3
98.4FGF1, FGF3, FGFR1, FGFR2, FGFR3
108.3FGF1, FGF23, FGFR1, FGFR2
11
Show member pathways
7.2FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
12
Show member pathways
6.8FGF1, FGF10, FGF14, FGF20, FGF23, FGF8
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
6.4FGF1, FGF10, FGF20, FGF23, FGF3, 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, FGF14, FGF20, FGF23, FGF3
33
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
34
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
35
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
36
Show member pathways
6.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
376.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
386.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
396.1FGF1, 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

GO Terms for genes affiliated with Ladd Syndrome

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Cellular components related to Ladd Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055766.1FGF1, FGF10, FGF14, FGF20, FGF23, FGF3

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

(show top 50)    (show all 83)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.7FGF10, FGFR2
2mammary gland bud formationGO:006061510.7FGF10, FGFR2
3epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.7FGF10, FGFR2
4branch elongation involved in salivary gland morphogenesisGO:006066710.7FGF10, FGFR2
5mesenchymal cell differentiation involved in lung developmentGO:006091510.7FGF10, FGFR2
6lacrimal gland developmentGO:003280810.7FGF10, FGFR2
7negative regulation of cardiac muscle tissue developmentGO:005502610.6FGF3, FGF8
8female genitalia morphogenesisGO:004880710.5FGF10, TP63
9prostatic bud formationGO:006051310.5FGF10, TP63
10squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.4FGFR2, TP63
11embryonic pattern specificationGO:000988010.3FGF10, FGFR2, SATB2
12regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:006066510.2FGF10, FGFR1
13orbitofrontal cortex developmentGO:002176910.1FGFR1, FGFR2
14ventricular zone neuroblast divisionGO:002184710.1FGFR1, FGFR2
15fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
16hair follicle morphogenesisGO:003106910.1FGF10, FGFR2, TP63
17positive regulation of canonical Wnt signaling pathwayGO:00902639.9FGF10, FGF9, FGFR2, FGFR3
18otic vesicle formationGO:00309169.9FGF10, FGF3, FGF8, FGFR2
19positive regulation of cardiac muscle cell proliferationGO:00600459.7FGF9, FGFR1, FGFR2
20positive regulation of phospholipase activityGO:00105189.7FGFR1, FGFR2, FGFR3
21positive regulation of epithelial cell proliferationGO:00506799.7FGF1, FGF10, FGF9, FGFR2
22positive regulation of cell divisionGO:00517819.7FGF1, FGF3, FGF9, FGFR2
23lung-associated mesenchyme developmentGO:00604849.7FGF9, FGFR1, FGFR2
24positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.5FGF23, FGFR1, FGFR3
25branching involved in salivary gland morphogenesisGO:00604459.4FGF10, FGF8, FGFR1, FGFR2
26chondrocyte differentiationGO:00020629.3FGF9, FGFR1, FGFR3
27cell-cell signalingGO:00072679.3FGF10, FGF14, FGF20, FGF3, FGF9, FGFR2
28embryonic limb morphogenesisGO:00303269.3FGF9, FGFR1, TP63
29positive regulation of mesenchymal cell proliferationGO:00020539.2FGF9, FGFR1, FGFR2, TP63
30positive regulation of MAPK cascadeGO:00434109.1FGF10, FGF9, FGFR1, FGFR2, FGFR3
31organ inductionGO:00017598.9FGF1, FGF10, FGF3, FGF8, FGFR1
32angiogenesisGO:00015258.8FGF1, FGF10, FGF9, FGFR1, FGFR2
33positive regulation of ERK1 and ERK2 cascadeGO:00703748.7FGF1, FGF10, FGF20, FGF23, FGFR2, FGFR3
34inner ear morphogenesisGO:00424728.6FGF10, FGF8, FGF9, FGFR1, FGFR2
35lung developmentGO:00303248.3FGF1, FGF10, FGF8, FGF9, FGFR1, FGFR2
36negative regulation of transcription from RNA polymerase II promoterGO:00001227.9FGF9, FGFR1, FGFR2, FGFR3, SATB2, TP63
37positive regulation of cell proliferationGO:00082847.5FGF1, FGF10, FGF20, FGF3, FGF8, FGF9
38phosphatidylinositol-mediated signalingGO:00480157.0FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
39MAPK cascadeGO:00001656.8FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
40activation of MAPKK activityGO:00001866.8FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
41Ras protein signal transductionGO:00072656.8FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
42insulin receptor signaling pathwayGO:00082866.8FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
43Fc-epsilon receptor signaling pathwayGO:00380956.8FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
44neurotrophin TRK receptor signaling pathwayGO:00480116.7FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
45epidermal growth factor receptor signaling pathwayGO:00071736.6FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
46fibroblast growth factor receptor signaling pathwayGO:00085436.5FGF1, FGF10, FGF14, FGF20, FGF23, FGF3
47axon guidanceGO:00074116.5FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
48innate immune responseGO:00450876.4FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
49vascular endothelial growth factor receptor signaling pathwayGO:00480106.3FGF1, FGF10, FGF20, FGF23, FGF3, FGF8
50small GTPase mediated signal transductionGO:00072646.1FGF1, FGF10, FGF20, FGF23, FGF3, FGF8

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1type 2 fibroblast growth factor receptor bindingGO:000511110.4FGF10, FGF8
2type 1 fibroblast growth factor receptor bindingGO:000510510.0FGF23, FGF8
3chemoattractant activityGO:00420569.9FGF10, FGF8
4fibroblast growth factor-activated receptor activityGO:00050079.7FGFR1, FGFR2, FGFR3
5fibroblast growth factor bindingGO:00171349.6FGFR1, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047139.2FGFR1, FGFR2, FGFR3
7fibroblast growth factor receptor bindingGO:00051048.6FGF1, FGF10, FGF14, FGF20, FGF3, FGF8
8heparin bindingGO:00082018.0FGF1, FGF10, FGF14, FGF9, FGFR1, FGFR2
9growth factor activityGO:00080837.4FGF1, FGF10, FGF14, FGF20, FGF23, FGF3

Sources for Ladd Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet