LADDS
MCID: LDD001
MIFTS: 59

Ladd Syndrome (LADDS) 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 52 11 48 25 54 12 13
Lacrimoauriculodentodigital Syndrome 52 11 25 54 70 68
Levy-Hollister Syndrome 11 24 25 54 70
Lacrimo-Auriculo-Dento-Digital Syndrome 48 24 25 70
Levy Hollister Syndrome 48 27
Congenital Duodenal Obstruction Due to Malrotation of Intestine 68
 
Lacrimoauriculodento-Digital Syndrome 48
Lacrimoduriculodentodigital Syndrome 24
Lacrimoauriculoradiodental Syndrome 54
Lard Syndrome 54
Ladds 70
Ladd 24

Characteristics:

Orphanet epidemiological data:

54
ladd syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal

HPO:

64
ladd syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 149730
Disease Ontology11 DOID:0050331
Orphanet54 ORPHA2363
UMLS via Orphanet69 C0265269
ICD10 via Orphanet31 Q87.8
MedGen37 C0265269

Summaries for Ladd Syndrome

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UniProtKB/Swiss-Prot:70 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 renal agenesis, absence of stensen duct and xerostomia. 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 embryo and hearing/vestibular/ear.

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:52 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 52)
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
5dacryocystocele10.3
6early-onset glaucoma10.3
7antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.3FGFR2, FGFR3
8candidiasis, familial, 310.3FGF8, FGFR3
9pkp1-related ectodermal dysplasia/skin fragility syndrome10.2FGFR1, FGFR2
10pitx3-related anterior segment mesenchymal dysgenesis10.2FGFR1, FGFR2
11squamous cell carcinoma10.2FGF10, FGFR2
12muenke syndrome10.2FGF8, FGFR2, FGFR3
13hypomyelinating leukodystrophy 1310.2SATB2, TP63
14cervical spinal canal and spinal cord meningioma10.2FGFR2, FGFR3
15catshl syndrome10.2FGFR2, TP63
16aica-ribosiduria due to atic deficiency10.2FGFR2, FGFR3, TP63
17familial porphyria cutanea tarda10.2FGFR1, FGFR2, FGFR3
18hartsfield syndrome10.2FGFR1, FGFR2, FGFR3
19pointer syndrome10.2FGFR1, FGFR2, FGFR3
20osteoglophonic dysplasia10.2FGFR1, FGFR2, FGFR3
21benign essential hypertension10.1FGF10, FGF8, FGFR2
22apert syndrome10.1FGFR1, FGFR2, FGFR3
23hypoparathyroidism10.1FGFR2, FGFR3, TP63
24robinow-sorauf syndrome10.1FGFR1, FGFR2, FGFR3
25partial of retinal vein occlusion10.1FGF10, FGF7, FGFR2
26bone structure disease10.1FGFR1, FGFR2, FGFR3
27atrophy of testis10.1FGFR1, FGFR2, FGFR3
28t cell immunodeficiency primary10.1FGF9, FGFR1, FGFR3
29ovarian epithelial cancer10.1FGF9, FGFR1, FGFR3
30heterotaxy10.1
31crouzon syndrome with acanthosis nigricans10.1FGF3, FGFR1, FGFR2, FGFR3
32thanatophoric dysplasia, type i10.1FGF3, FGFR1, FGFR2, FGFR3
33fibrous dysplasia10.0FGF8, SATB2, TP63
34orbit lymphoma10.0FGF23, GALNT3
35duodenal obstruction10.0
36duodenitis10.0
37melanocytic nevus syndrome, congenital, somatic10.0FGF23, FGFR3
38gaze palsy, horizontal, with progressive scoliosis10.0SATB2, TP63
39donnai-barrow syndrome10.0FGF23, GALNT3
40myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.0FGFR1, FGFR2, SATB2, TP63
41chronic ethmoiditis10.0FGFR1, SATB2, TP63
42cutaneous leishmaniasis9.9FGF10, FGF8, FGFR1, FGFR2, FGFR3
43split foot9.8
44split hand9.8
45taeniasis9.8FGF10, FGF3, FGFR1, FGFR2, SATB2, TP63
46megacolon9.8
47superior mesenteric artery syndrome9.8
48scaphocephaly, maxillary retrusion, and mental retardation9.8FGF10, FGF7, FGF9, FGFR1, FGFR2, FGFR3
49hypogonadotropic hypogonadism 2 with or without anosmia9.7FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
50limbal stem cell deficiency9.7

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



Diseases related to ladd syndrome

Symptoms & Phenotypes for Ladd Syndrome

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Symptoms by clinical synopsis from OMIM:

149730

Clinical features from OMIM:

149730

Human phenotypes related to Ladd Syndrome:

 64 (show all 41)
id Description HPO Frequency HPO Source Accession
1 renal agenesis64 HP:0000104
2 absence of stensen duct64 HP:0000198
3 xerostomia64 HP:0000217
4 hypertelorism64 HP:0000316
5 broad forehead64 HP:0000337
6 cupped ear64 HP:0000378
7 mixed hearing impairment64 HP:0000410
8 downslanted palpebral fissures64 HP:0000494
9 recurrent corneal erosions64 HP:0000495
10 telecanthus64 HP:0000506
11 alacrima64 HP:0000522
12 nasolacrimal duct obstruction64 HP:0000579
13 dacryocystitis64 HP:0000620
14 periorbital fullness64 HP:0000629
15 hypodontia64 HP:0000668
16 carious teeth64 HP:0000670
17 delayed eruption of primary teeth64 HP:0000680
18 hyperextensible skin64 HP:0000974
19 absent lacrimal punctum64 HP:0001092
20 2-3 finger syndactyly64 HP:0001233
21 small thenar eminence64 HP:0001245
22 hypoplasia of the radius64 HP:0002984
23 hypoplasia of the ulna64 HP:0003022
24 absent radius64 HP:0003974
25 clinodactyly of the 5th finger64 HP:0004209
26 bilateral triphalangeal thumbs64 HP:0005707
27 hypoplasia of dental enamel64 HP:0006297
28 lacrimal gland aplasia64 HP:0007656
29 lacrimal gland hypoplasia64 HP:0007732
30 hypoplasia of the lacrimal puncta64 HP:0007892
31 hypoplastic lacrimal duct64 HP:0007900
32 coronal hypospadias64 HP:0008743
33 radial deviation of the 3rd finger64 HP:0009462
34 absent proximal phalanx of thumb64 HP:0009637
35 aplasia of the parotid gland64 HP:0009740
36 nephrosclerosis64 HP:0009741
37 partial duplication of thumb phalanx64 HP:0009944
38 broad hallux64 HP:0010055
39 conical incisor64 HP:0011065
40 preaxial polydactyly64 HP:0100258
41 corneal perforation64 HP:0100583

MGI Mouse Phenotypes related to Ladd Syndrome according to GeneCards Suite gene sharing:

41 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.7FGF10, FGF3, FGF8, FGFR1, FGFR2, SATB2
2MP:00053778.6FGF10, FGF20, FGF3, FGF8, FGF9, FGFR1
3MP:00028738.2FGF10, FGF3, FGF8, FGF9, FGFR1, FGFR2
4MP:00053918.1FGF10, FGF7, FGF8, FGF9, FGFR1, FGFR2
5MP:00053887.9FGF10, FGF23, FGF8, FGF9, FGFR2, FGFR3
6MP:00053827.6FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
7MP:00053867.6FGF10, FGF14, FGF3, FGF7, FGF8, FGF9
8MP:00053677.4FGF10, FGF23, FGF7, FGF8, FGFR1, FGFR2
9MP:00053857.4FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
10MP:00053797.2FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
11MP:00036317.2FGF10, FGF14, FGF20, FGF3, FGF7, FGF8
12MP:00053817.1FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
13MP:00053717.0FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
14MP:00053896.9FGF10, FGF23, FGF3, FGF7, FGF8, FGF9
15MP:00053976.9ARID1B, FGF10, FGF23, FGF7, FGF8, FGFR1
16MP:00107716.7FGF10, FGF20, FGF23, FGF7, FGF9, FGFR1
17MP:00053876.7ARID1B, FGF10, FGF23, FGF3, FGF7, FGF8
18MP:00053906.5FGF10, FGF23, FGF3, FGF7, FGF8, FGF9
19MP:00053766.2FGF10, FGF23, FGF7, FGF8, FGF9, FGFR1
20MP:00053785.7FGF10, FGF14, FGF23, FGF3, FGF7, FGF8

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 FemalesUnknown statusNCT00547469Phase 2, Phase 3
2Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective StudyCompletedNCT01591928

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 Levy-Hollister Syndrome27
2 Lacrimo-Auriculo-Dento-Digital Syndrome24 FGFR3

Anatomical Context for Ladd Syndrome

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MalaCards organs/tissues related to Ladd Syndrome:

36
Salivary gland, Eye, Kidney, Skin, Bone

Publications for Ladd Syndrome

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Articles related to Ladd Syndrome:

(show all 22)
idTitleAuthorsYear
1
LADD syndrome with glaucoma is caused by a novel gene. (28400699)
2017
2
Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing. (28483234)
2017
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
Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. (18801668)
2008
7
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. (18056630)
2007
8
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. (16460812)
2006
9
LADD syndrome is caused by FGF10 mutations. (16630169)
2006
10
Mutations in different components of FGF signaling in LADD syndrome. (16501574)
2006
11
Limbal stem cell deficiency associated with LADD syndrome. (15883293)
2005
12
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. (15829693)
2005
13
The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. (10348439)
1999
14
LADD syndrome in five members of a three-generation family and prenatal diagnosis. (8031542)
1994
15
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. (8411061)
1993
16
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. (8110420)
1993
17
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. (2225531)
1990
18
Lacrimo-auriculo-dento-digital (LADD) syndrome. (3678282)
1987
19
LADD syndrome: a distinct entity? (3582415)
1987
20
LADD syndrome: report of new cases and review of the clinical spectrum. (3709571)
1986
21
Phenotypic variation in LADD syndrome. (4078868)
1985
22
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:

70
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

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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
19.6FGFR1, FGFR2, FGFR3
29.6FGFR1, FGFR2, FGFR3
39.6FGFR1, FGFR2, FGFR3
4
Show member pathways
9.6FGFR1, FGFR2, FGFR3
59.2FGF10, FGF8, FGFR1, FGFR3
69.2FGF8, FGFR1, FGFR2, FGFR3
79.2FGF23, FGFR1, FGFR2
89.1FGF10, FGF3, FGF7, TP63
9
Show member pathways
8.5FGF20, FGF23, FGF8, FGF9, FGFR1
10
Show member pathways
8.3FGF20, FGF23, FGF8, FGF9, FGFR3, GALNT3
11
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
12
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
13
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
14
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
15
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
16
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
17
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
187.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
19
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
20
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
21
Show member pathways
7.4FGF10, FGF14, FGF20, FGF23, FGF7, FGF8
22
Show member pathways
7.0FGF10, FGF20, FGF23, FGF3, 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
7.0FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
31
Show member pathways
6.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
32
Show member pathways
6.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
336.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
34
Show member pathways
6.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
35
Show member pathways
6.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
366.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
37
Show member pathways
6.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
38
Show member pathways
6.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
39
Show member pathways
6.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
40
Show member pathways
6.8FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
41
Show member pathways
6.7FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
42
Show member pathways
6.7FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
43
Show member pathways
6.2FGF10, FGF20, FGF23, FGF3, FGF7, FGF8

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:00055766.0FGF10, FGF14, FGF20, FGF23, FGF3, FGF7

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

(show top 50)    (show all 72)
idNameGO IDScoreTop Affiliating Genes
1branch elongation involved in salivary gland morphogenesisGO:006066710.8FGF10, FGFR2
2bud elongation involved in lung branchingGO:006044910.8FGF10, FGFR2
3endochondral bone growthGO:000341610.8FGFR2, FGFR3
4embryonic digestive tract morphogenesisGO:004855710.8FGF10, FGFR2
5epidermis morphogenesisGO:004873010.8FGF10, FGFR2
6epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.8FGF10, FGFR2
7fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.8FGF10, FGFR2
8lacrimal gland developmentGO:003280810.8FGF10, FGFR2
9limb bud formationGO:006017410.8FGF10, FGFR2
10mammary gland bud formationGO:006061510.8FGF10, FGFR2
11mesenchymal cell differentiation involved in lung developmentGO:006091510.8FGF10, FGFR2
12organ growthGO:003526510.8FGF10, FGFR2
13embryonic digestive tract developmentGO:004856610.7FGF10, FGF9
14lung morphogenesisGO:006042510.7FGF10, FGF8
15mesonephros developmentGO:000182310.7FGF10, FGF8
16outflow tract septum morphogenesisGO:000314810.7FGF8, FGFR2
17negative regulation of cardiac muscle tissue developmentGO:005502610.6FGF3, FGF8
18female genitalia morphogenesisGO:004880710.6FGF10, TP63
19keratinocyte proliferationGO:004361610.6FGF10, TP63
20fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.6FGFR1, FGFR2
21mesenchymal cell differentiationGO:004876210.6FGFR1, FGFR2
22orbitofrontal cortex developmentGO:002176910.5FGFR1, FGFR2
23embryonic pattern specificationGO:000988010.5FGF10, FGFR2, SATB2
24positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.5FGF10, FGF9
25generation of neuronsGO:004869910.4FGF8, FGFR1
26positive regulation of canonical Wnt signaling pathwayGO:009026310.4FGF10, FGF9, FGFR2
27otic vesicle formationGO:003091610.4FGF10, FGF8, FGFR2
28positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:006050110.4FGF7, FGFR2
29animal organ morphogenesisGO:000988710.4FGF10, FGFR2, TP63
30prostatic bud formationGO:006051310.4FGF10, TP63
31epithelial cell differentiationGO:003085510.4FGF10, FGFR2, TP63
32positive regulation of keratinocyte migrationGO:005154910.4FGF10, FGF7
33regulation of smoothened signaling pathwayGO:000858910.3FGF10, FGFR2
34protein localization to cell surfaceGO:003439410.3FGF10, FGF7
35chondrocyte differentiationGO:000206210.3FGF9, FGFR1, FGFR3
36chromatin remodelingGO:000633810.3ARID1B, SATB2, TP63
37lung-associated mesenchyme developmentGO:006048410.2FGF9, FGFR1, FGFR2
38organ inductionGO:000175910.2FGF10, FGF8, FGFR1
39positive regulation of cardiac muscle cell proliferationGO:006004510.2FGF9, FGFR1, FGFR2
40positive regulation of phospholipase activityGO:001051810.1FGFR1, FGFR2, FGFR3
41positive chemotaxisGO:005091810.1FGF10, FGF7, FGF8
42epidermis developmentGO:000854410.1FGF10, FGF7, TP63
43embryonic limb morphogenesisGO:003032610.1FGF9, FGFR1, TP63
44angiogenesisGO:000152510.0FGF10, FGF9, FGFR1, FGFR2
45positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.0FGF23, FGFR1
46salivary gland morphogenesisGO:000743510.0FGF10, FGFR1
47positive regulation of keratinocyte proliferationGO:00108389.9FGF10, FGF7, TP63
48positive regulation of epithelial cell proliferationGO:00506799.9FGF10, FGF7, FGF9, FGFR2
49hair follicle morphogenesisGO:00310699.9FGF10, FGF7, FGFR2, TP63
50secretion by lung epithelial cell involved in lung growthGO:00610339.8FGF10, FGF7

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:001713410.3FGFR1, FGFR2, FGFR3
2fibroblast growth factor-activated receptor activityGO:000500710.3FGFR1, FGFR2, FGFR3
3receptor-receptor interactionGO:009072210.2FGF20, FGFR1
4chemoattractant activityGO:004205610.1FGF10, FGF7, FGF8
5transmembrane receptor protein tyrosine kinase activityGO:00047149.6FGFR1, FGFR2, FGFR3
6heparin bindingGO:00082019.4FGF10, FGF7, FGF9, FGFR1, FGFR2
7fibroblast growth factor receptor bindingGO:00051048.6FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
8growth factor activityGO:00080838.3FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
91-phosphatidylinositol-3-kinase activityGO:00163037.7FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
10phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469347.7FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
11protein tyrosine kinase activityGO:00047137.6FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
12Ras guanyl-nucleotide exchange factor activityGO:00050887.5FGF10, FGF20, FGF23, FGF3, FGF7, FGF8

Sources for Ladd Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet