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

About this section

Aliases & Descriptions for Ladd Syndrome:

Name: Ladd Syndrome 51 11 47 25 53 12 13
Lacrimoauriculodentodigital Syndrome 51 11 25 53 69 67
Levy-Hollister Syndrome 11 24 25 53 69
Lacrimo-Auriculo-Dento-Digital Syndrome 47 24 25 69
Levy Hollister Syndrome 47 26
Congenital Duodenal Obstruction Due to Malrotation of Intestine 67
 
Lacrimoauriculodento-Digital Syndrome 47
Lacrimoduriculodentodigital Syndrome 24
Lacrimoauriculoradiodental Syndrome 53
Lard Syndrome 53
Ladds 69
Ladd 24

Characteristics:

Orphanet epidemiological data:

53
ladd syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal

HPO:

63
ladd syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 149730
Disease Ontology11 DOID:0050331
Orphanet53 ORPHA2363
UMLS via Orphanet68 C0265269
ICD10 via Orphanet30 Q87.8
MedGen36 C0265269

Summaries for Ladd Syndrome

About this section
UniProtKB/Swiss-Prot:69 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 Alzheimers Disease Pathway and Central carbon metabolism in cancer. Affiliated tissues include salivary gland, eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and embryo.

Disease Ontology:11 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:25 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:51 Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and... (149730) more...

Related Diseases for Ladd Syndrome

About this section

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1fgf10-related lacrimo-auriculo-dento-digital syndrome12.4
2fgfr2-related lacrimo-auriculo-dento-digital syndrome12.4
3fgfr3-related lacrimo-auriculo-dento-digital syndrome12.4
4cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.8
5mite infestation10.5FGFR2, FGFR3
6apert syndrome10.5FGFR2, FGFR3
7catshl syndrome10.4FGFR2, TP63
8dacryocystocele10.3
9early-onset glaucoma10.3
10pfn1-related amyotrophic lateral sclerosis10.3FGFR1, FGFR2
11crouzon syndrome with acanthosis nigricans10.3FGF8, FGFR2, FGFR3
12serous conjunctivitis except viral10.2FGFR2, FGFR3, TP63
13facial paralysis10.2SATB2, TP63
14flnb-related disorders10.2FGFR1, FGFR2, FGFR3
15plasmalogens synthesis deficiency isolated10.2FGFR1, FGFR2, FGFR3
16trigonocephaly 110.2FGFR1, FGFR2, FGFR3
17epidermal nevus, somatic10.2FGF23, FGFR3
18bladder cancer, somatic10.2FGFR1, FGFR2, FGFR3
19hypogonadotropic hypogonadism 2 with or without anosmia10.2FGFR1, FGFR2, FGFR3
20peritoneum cancer10.2FGF10, FGF7, FGFR2
21beare-stevenson cutis gyrata syndrome10.2FGFR1, FGFR2, FGFR3
22ischemic bone disease10.2FGFR1, FGFR2, FGFR3
23craniosynostosis, type 110.1FGFR1, FGFR2, FGFR3
24osteopetrosis and infantile neuroaxonal dystrophy10.1FGF9, FGFR1, FGFR3
25syphilitic myelopathy10.1FGF9, FGFR1, FGFR3
26heterotaxy10.1
27uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.1FGFR1, FGFR2
28accommodative esotropia10.1FGFR2, FGFR3
29substance dependence10.0FGF23, GALNT3
30duodenal obstruction10.0
31duodenitis10.0
32thanatophoric dysplasia, type i10.0FGF3, FGFR1, FGFR2, FGFR3
33hypochondroplasia10.0FGF3, FGFR1, FGFR2, FGFR3
34tumoral calcinosis, hyperphosphatemic, familial10.0FGF23, GALNT3
35familial wilms tumor 29.9FGF23, GALNT3
36myocardium cancer9.9FGFR1, SATB2, TP63
37onychotrichodysplasia and neutropenia9.9FGF23, FGF7
38peroxisome biogenesis disorder 2a9.9FGF23, GALNT3
39split foot9.8
40split hand9.8
41ileocolitis9.8
42megacolon9.8
43superior mesenteric artery syndrome9.8
44myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.8FGFR1, FGFR2, SATB2, TP63
45central nervous system leukemia9.8ARID1B, FGF10, FGFR1, FGFR2, FGFR3
46capillariasis9.8FGF23, GALNT3
47crohn's disease9.7FGF10, FGF8, FGFR1, FGFR2, FGFR3
48limbal stem cell deficiency9.7
49tuberous sclerosis-19.7FGF23, FGF7, GALNT3
50glycogen storage disease ix9.4FGF10, FGF3, FGFR1, FGFR2, SATB2, TP63

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

Human phenotypes related to Ladd Syndrome:

 63 (show all 77)
id Description HPO Frequency HPO Source Accession
1 overfolded helix63 hallmark (90%) HP:0000396
2 conductive hearing impairment63 hallmark (90%) HP:0000405
3 alacrima63 hallmark (90%) HP:0000522
4 abnormality of dental enamel63 hallmark (90%) HP:0000682
5 microdontia63 hallmark (90%) HP:0000691
6 triphalangeal thumb63 hallmark (90%) HP:0001199
7 external ear malformation63 hallmark (90%) HP:0008572
8 aplasia/hypoplasia of the earlobes63 hallmark (90%) HP:0009906
9 tibial deviation of toes63 hallmark (90%) HP:0100499
10 inflammatory abnormality of the eye63 hallmark (90%) HP:0100533
11 xerostomia63 typical (50%) HP:0000217
12 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
13 sensorineural hearing impairment63 typical (50%) HP:0000407
14 visual impairment63 typical (50%) HP:0000505
15 telecanthus63 typical (50%) HP:0000506
16 carious teeth63 typical (50%) HP:0000670
17 preaxial hand polydactyly63 typical (50%) HP:0001177
18 preaxial foot polydactyly63 typical (50%) HP:0001841
19 clinodactyly of the 5th finger63 typical (50%) HP:0004209
20 abnormal nasal morphology63 typical (50%) HP:0005105
21 finger syndactyly63 typical (50%) HP:0006101
22 abnormality of the antihelix63 typical (50%) HP:0009738
23 reduced number of teeth63 typical (50%) HP:0009804
24 abnormality of the salivary glands63 typical (50%) HP:0010286
25 corneal erosion63 typical (50%) HP:0200020
26 nephropathy63 occasional (7.5%) HP:0000112
27 oral cleft63 occasional (7.5%) HP:0000202
28 abnormality of the fontanelles or cranial sutures63 occasional (7.5%) HP:0000235
29 broad forehead63 occasional (7.5%) HP:0000337
30 micrognathia63 occasional (7.5%) HP:0000347
31 high forehead63 occasional (7.5%) HP:0000348
32 abnormality of periauricular region63 occasional (7.5%) HP:0000383
33 choanal atresia63 occasional (7.5%) HP:0000453
34 deeply set eye63 occasional (7.5%) HP:0000490
35 ptosis63 occasional (7.5%) HP:0000508
36 taurodontia63 occasional (7.5%) HP:0000679
37 abnormality of the ribs63 occasional (7.5%) HP:0000772
38 radioulnar synostosis63 occasional (7.5%) HP:0002974
39 radial club hand63 occasional (7.5%) HP:0004059
40 renal hypoplasia/aplasia63 occasional (7.5%) HP:0008678
41 aplasia/hypoplasia of the thumb63 occasional (7.5%) HP:0009601
42 nephrosclerosis63 occasional (7.5%) HP:0009741
43 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
44 renal agenesis63 HP:0000104
45 absence of stensen duct63 HP:0000198
46 hypertelorism63 HP:0000316
47 cupped ear63 HP:0000378
48 mixed hearing impairment63 HP:0000410
49 downslanted palpebral fissures63 HP:0000494
50 recurrent corneal erosions63 HP:0000495
51 nasolacrimal duct obstruction63 HP:0000579
52 dacryocystitis63 HP:0000620
53 periorbital fullness63 HP:0000629
54 hypodontia63 HP:0000668
55 delayed eruption of primary teeth63 HP:0000680
56 hyperextensible skin63 HP:0000974
57 absent lacrimal punctum63 HP:0001092
58 2-3 finger syndactyly63 HP:0001233
59 small thenar eminence63 HP:0001245
60 hypoplasia of the radius63 HP:0002984
61 hypoplasia of the ulna63 HP:0003022
62 absent radius63 HP:0003974
63 bilateral triphalangeal thumbs63 HP:0005707
64 hypoplasia of dental enamel63 HP:0006297
65 lacrimal gland aplasia63 HP:0007656
66 lacrimal gland hypoplasia63 HP:0007732
67 hypoplasia of the lacrimal puncta63 HP:0007892
68 hypoplastic lacrimal duct63 HP:0007900
69 coronal hypospadias63 HP:0008743
70 radial deviation of the 3rd finger63 HP:0009462
71 absent proximal phalanx of thumb63 HP:0009637
72 aplasia of the parotid gland63 HP:0009740
73 partial duplication of thumb phalanx63 HP:0009944
74 broad hallux63 HP:0010055
75 conical incisor63 HP:0011065
76 preaxial polydactyly63 HP:0100258
77 corneal perforation63 HP:0100583

Drugs & Therapeutics for Ladd Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective StudyRecruitingNCT01591928
2BÜHLMANN fCAL™ ELISA - Aid in Differentiation of IBD From IBSRecruitingNCT02351635

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 Levy-Hollister Syndrome26
2 Lacrimo-Auriculo-Dento-Digital Syndrome24 FGFR3

Anatomical Context for Ladd Syndrome

About this section

MalaCards organs/tissues related to Ladd Syndrome:

35
Salivary gland, Eye, Kidney, Skin, Bone

Animal Models for Ladd Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Ladd Syndrome:

40 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7FGF10, FGF20, FGF3, FGF8, FGF9, FGFR1
2MP:00053808.6FGF10, FGF3, FGF8, FGFR1, FGFR2, SATB2
3MP:00053918.5FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
4MP:00053888.2FGF10, FGF23, FGF8, FGF9, FGFR2, FGFR3
5MP:00028738.2FGF10, FGF3, FGF8, FGF9, FGFR1, FGFR2
6MP:00053797.5FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
7MP:00053827.4FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
8MP:00053867.3FGF10, FGF14, FGF3, FGF7, FGF8, FGF9
9MP:00036317.3FGF10, FGF14, FGF20, FGF3, FGF7, FGF8
10MP:00053877.2FGF10, FGF23, FGF7, FGF8, FGFR1, FGFR2
11MP:00107717.1FGF10, FGF20, FGF23, FGF7, FGF9, FGFR1
12MP:00053857.0FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
13MP:00053717.0FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
14MP:00053907.0FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
15MP:00053677.0FGF10, FGF23, FGF7, FGF8, FGFR1, FGFR2
16MP:00053896.8FGF10, FGF23, FGF3, FGF7, FGF8, FGF9
17MP:00053816.6FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
18MP:00053786.1FGF10, FGF14, FGF23, FGF3, FGF8, FGF9
19MP:00053766.0FGF10, FGF23, FGF7, FGF8, FGF9, FGFR1

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
LADD syndrome is caused by FGF10 mutations. (16630169)
2006
7
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. (16460812)
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
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. (8110420)
1993
14
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. (8411061)
1993
15
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. (2225531)
1990
16
Lacrimo-auriculo-dento-digital (LADD) syndrome. (3678282)
1987
17
LADD syndrome: a distinct entity? (3582415)
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:

69
id Symbol AA change Variation ID SNP ID
1FGF10p.Cys106PheVAR_029888rs104893885
2FGF10p.Ile156ArgVAR_029889rs104893886
3FGFR2p.Ala628ThrVAR_029884rs121918509
4FGFR2p.Ala648ThrVAR_029885rs121918508
5FGFR3p.Asp513AsnVAR_029887rs121913112

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)SNVPathogenicrs121918508GRCh37Chr 10, 123247549: 123247549
2FGFR2NM_000141.4(FGFR2): c.1947_1949delAGA (p.Arg649_Asp650delinsSer)deletionPathogenicrs879253720GRCh37Chr 10, 123247542: 123247544
3FGFR2NM_000141.4(FGFR2): c.1882G> A (p.Ala628Thr)SNVPathogenicrs121918509GRCh37Chr 10, 123247609: 123247609
4FGFR3NM_000142.4(FGFR3): c.1537G> A (p.Asp513Asn)SNVPathogenicrs121913112GRCh37Chr 4, 1807288: 1807288
5FGF10NM_004465.1(FGF10): c.317G> T (p.Cys106Phe)SNVPathogenicrs104893885GRCh37Chr 5, 44388468: 44388468
6FGF10NM_004465.1(FGF10): c.467T> G (p.Ile156Arg)SNVPathogenicrs104893886GRCh37Chr 5, 44305257: 44305257
7FGF10NM_004465.1(FGF10): c.409A> T (p.Lys137Ter)SNVPathogenicrs104893887GRCh37Chr 5, 44310549: 44310549

Expression for genes affiliated with Ladd Syndrome

About this section
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 Suite gene sharing:

(show all 40)
idSuper pathwaysScoreTop Affiliating Genes
19.5FGFR1, FGFR2, FGFR3
29.5FGFR1, FGFR2, FGFR3
39.5FGFR1, FGFR2, FGFR3
4
Show member pathways
9.5FGFR1, FGFR2, FGFR3
59.2FGF10, FGF8, FGFR1, FGFR3
69.2FGF8, FGFR1, FGFR2, FGFR3
79.1FGF23, FGFR1, FGFR2
89.1FGF10, FGF3, FGF7, TP63
98.7FGF3, FGF7, FGFR1, FGFR2, FGFR3
10
Show member pathways
8.4FGF20, FGF23, FGF8, FGF9, FGFR1
11
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
12
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
13
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
14
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
15
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
16
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
17
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
18
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
19
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
20
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
21
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
227.3FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
23
Show member pathways
7.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
24
Show member pathways
7.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
25
Show member pathways
7.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
26
Show member pathways
7.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
27
Show member pathways
7.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
28
Show member pathways
7.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
29
Show member pathways
7.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
30
Show member pathways
6.9FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
316.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
32
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
33
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
34
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
356.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
366.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
37
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
38
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
396.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
40
Show member pathways
6.6FGF10, FGF20, FGF23, FGF3, FGF7, FGF8

GO Terms for genes affiliated with Ladd Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055765.9FGF10, FGF14, FGF20, FGF23, FGF3, FGF7

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1mammary gland bud formationGO:006061510.8FGF10, FGFR2
2mesenchymal cell differentiation involved in lung developmentGO:006091510.8FGF10, FGFR2
3branch elongation involved in salivary gland morphogenesisGO:006066710.8FGF10, FGFR2
4fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.8FGF10, FGFR2
5lacrimal gland developmentGO:003280810.7FGF10, FGFR2
6epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.7FGF10, FGFR2
7bud elongation involved in lung branchingGO:006044910.7FGF10, FGFR2
8negative regulation of cardiac muscle tissue developmentGO:005502610.6FGF3, FGF8
9epidermis morphogenesisGO:004873010.6FGF10, FGFR2
10female genitalia morphogenesisGO:004880710.5FGF10, TP63
11prostatic bud formationGO:006051310.5FGF10, TP63
12squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.5FGFR2, TP63
13secretion by lung epithelial cell involved in lung growthGO:006103310.5FGF10, FGF7
14fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.5FGFR1, FGFR2
15positive regulation of keratinocyte migrationGO:005154910.5FGF10, FGF7
16positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:006050110.3FGF7, FGFR2
17otic vesicle formationGO:003091610.3FGF10, FGF8, FGFR2
18ventricular zone neuroblast divisionGO:002184710.2FGFR1, FGFR2
19embryonic pattern specificationGO:000988010.2FGF10, FGFR2, SATB2
20positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.1FGF23, FGFR1
21organ inductionGO:000175910.0FGF10, FGF8, FGFR1
22positive regulation of phospholipase activityGO:001051810.0FGFR1, FGFR2, FGFR3
23positive regulation of cardiac muscle cell proliferationGO:006004510.0FGF9, FGFR1, FGFR2
24regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:006066510.0FGF10, FGF7, FGFR1
25chondrocyte differentiationGO:00020629.9FGF9, FGFR1, FGFR3
26positive regulation of keratinocyte proliferationGO:00108389.9FGF10, FGF7, TP63
27positive chemotaxisGO:00509189.9FGF10, FGF7, FGF8
28embryonic limb morphogenesisGO:00303269.6FGF9, FGFR1, TP63
29orbitofrontal cortex developmentGO:00217699.6FGFR1, FGFR2
30hair follicle morphogenesisGO:00310699.6FGF10, FGF7, FGFR2, TP63
31positive regulation of epithelial cell proliferationGO:00506799.6FGF10, FGF7, FGF9, FGFR2
32lung-associated mesenchyme developmentGO:00604849.6FGF9, FGFR1, FGFR2
33angiogenesisGO:00015259.6FGF10, FGF9, FGFR1, FGFR2
34positive regulation of mesenchymal cell proliferationGO:00020539.5FGF9, FGFR1, FGFR2, TP63
35positive regulation of cell divisionGO:00517819.4FGF3, FGF7, FGF8, FGF9, FGFR2
36positive regulation of MAPK cascadeGO:00434109.3FGF10, FGF9, FGFR1, FGFR2, FGFR3
37lung developmentGO:00303249.3FGF10, FGF8, FGF9, FGFR1, FGFR2
38inner ear morphogenesisGO:00424729.2FGF10, FGF8, FGF9, FGFR1, FGFR2
39branching involved in salivary gland morphogenesisGO:00604459.1FGF10, FGF7, FGF8, FGFR1, FGFR2
40cell-cell signalingGO:00072679.1FGF10, FGF14, FGF20, FGF3, FGF9, FGFR2
41positive regulation of ERK1 and ERK2 cascadeGO:00703748.3FGF10, FGF20, FGF23, FGF8, FGFR2, FGFR3
42phosphatidylinositol-3-phosphate biosynthetic processGO:00360927.6FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
43positive regulation of cell proliferationGO:00082847.6FGF10, FGF20, FGF3, FGF7, FGF8, FGF9
44phosphatidylinositol phosphorylationGO:00468547.6FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
45regulation of phosphatidylinositol 3-kinase signalingGO:00140667.6FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
46phosphatidylinositol-mediated signalingGO:00480157.5FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
47peptidyl-tyrosine phosphorylationGO:00181087.4FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
48MAPK cascadeGO:00001657.2FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
49fibroblast growth factor receptor signaling pathwayGO:00085437.1FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
50positive regulation of GTPase activityGO:00435477.1FGF10, FGF20, FGF23, FGF3, FGF7, FGF8

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1type 2 fibroblast growth factor receptor bindingGO:000511110.4FGF10, FGF7
2fibroblast growth factor-activated receptor activityGO:000500710.2FGFR1, FGFR2, FGFR3
3fibroblast growth factor receptor bindingGO:00051049.7FGF10, FGF20, FGF3, FGF8, FGF9
4fibroblast growth factor bindingGO:00171349.7FGFR1, FGFR2, FGFR3
5chemoattractant activityGO:00420569.6FGF10, FGF7, FGF8
6heparin bindingGO:00082018.8FGF10, FGF7, FGF9, FGFR1, FGFR2
71-phosphatidylinositol-3-kinase activityGO:00163037.5FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
8phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469347.4FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
9growth factor activityGO:00080837.4FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
10Ras guanyl-nucleotide exchange factor activityGO:00050887.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
11protein tyrosine kinase activityGO:00047136.9FGF10, FGF20, FGF23, FGF3, FGF7, FGF8

Sources for Ladd Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet