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 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 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: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 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 & 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 77)
id Description HPO Frequency HPO Source Accession
1 overfolded helix64 hallmark (90%) HP:0000396
2 conductive hearing impairment64 hallmark (90%) HP:0000405
3 alacrima64 hallmark (90%) HP:0000522
4 abnormality of dental enamel64 hallmark (90%) HP:0000682
5 microdontia64 hallmark (90%) HP:0000691
6 triphalangeal thumb64 hallmark (90%) HP:0001199
7 external ear malformation64 hallmark (90%) HP:0008572
8 aplasia/hypoplasia of the earlobes64 hallmark (90%) HP:0009906
9 tibial deviation of toes64 hallmark (90%) HP:0100499
10 inflammatory abnormality of the eye64 hallmark (90%) HP:0100533
11 xerostomia64 typical (50%) HP:0000217
12 low-set, posteriorly rotated ears64 typical (50%) HP:0000368
13 sensorineural hearing impairment64 typical (50%) HP:0000407
14 visual impairment64 typical (50%) HP:0000505
15 telecanthus64 typical (50%) HP:0000506
16 carious teeth64 typical (50%) HP:0000670
17 preaxial hand polydactyly64 typical (50%) HP:0001177
18 preaxial foot polydactyly64 typical (50%) HP:0001841
19 clinodactyly of the 5th finger64 typical (50%) HP:0004209
20 abnormal nasal morphology64 typical (50%) HP:0005105
21 finger syndactyly64 typical (50%) HP:0006101
22 abnormality of the antihelix64 typical (50%) HP:0009738
23 reduced number of teeth64 typical (50%) HP:0009804
24 abnormality of the salivary glands64 typical (50%) HP:0010286
25 corneal erosion64 typical (50%) HP:0200020
26 nephropathy64 occasional (7.5%) HP:0000112
27 oral cleft64 occasional (7.5%) HP:0000202
28 abnormality of the fontanelles or cranial sutures64 occasional (7.5%) HP:0000235
29 broad forehead64 occasional (7.5%) HP:0000337
30 micrognathia64 occasional (7.5%) HP:0000347
31 high forehead64 occasional (7.5%) HP:0000348
32 abnormality of periauricular region64 occasional (7.5%) HP:0000383
33 choanal atresia64 occasional (7.5%) HP:0000453
34 deeply set eye64 occasional (7.5%) HP:0000490
35 ptosis64 occasional (7.5%) HP:0000508
36 taurodontia64 occasional (7.5%) HP:0000679
37 abnormality of the ribs64 occasional (7.5%) HP:0000772
38 radioulnar synostosis64 occasional (7.5%) HP:0002974
39 radial club hand64 occasional (7.5%) HP:0004059
40 renal hypoplasia/aplasia64 occasional (7.5%) HP:0008678
41 aplasia/hypoplasia of the thumb64 occasional (7.5%) HP:0009601
42 nephrosclerosis64 occasional (7.5%) HP:0009741
43 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
44 renal agenesis64 HP:0000104
45 absence of stensen duct64 HP:0000198
46 hypertelorism64 HP:0000316
47 cupped ear64 HP:0000378
48 mixed hearing impairment64 HP:0000410
49 downslanted palpebral fissures64 HP:0000494
50 recurrent corneal erosions64 HP:0000495
51 nasolacrimal duct obstruction64 HP:0000579
52 dacryocystitis64 HP:0000620
53 periorbital fullness64 HP:0000629
54 hypodontia64 HP:0000668
55 delayed eruption of primary teeth64 HP:0000680
56 hyperextensible skin64 HP:0000974
57 absent lacrimal punctum64 HP:0001092
58 2-3 finger syndactyly64 HP:0001233
59 small thenar eminence64 HP:0001245
60 hypoplasia of the radius64 HP:0002984
61 hypoplasia of the ulna64 HP:0003022
62 absent radius64 HP:0003974
63 bilateral triphalangeal thumbs64 HP:0005707
64 hypoplasia of dental enamel64 HP:0006297
65 lacrimal gland aplasia64 HP:0007656
66 lacrimal gland hypoplasia64 HP:0007732
67 hypoplasia of the lacrimal puncta64 HP:0007892
68 hypoplastic lacrimal duct64 HP:0007900
69 coronal hypospadias64 HP:0008743
70 radial deviation of the 3rd finger64 HP:0009462
71 absent proximal phalanx of thumb64 HP:0009637
72 aplasia of the parotid gland64 HP:0009740
73 partial duplication of thumb phalanx64 HP:0009944
74 broad hallux64 HP:0010055
75 conical incisor64 HP:0011065
76 preaxial polydactyly64 HP:0100258
77 corneal perforation64 HP:0100583

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

41 (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

Drugs & Therapeutics for Ladd Syndrome

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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

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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 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

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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 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

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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 top 50)    (show all 70)
idNameGO IDScoreTop Affiliating Genes
1branch elongation involved in salivary gland morphogenesisGO:006066710.8FGF10, FGFR2
2bud elongation involved in lung branchingGO:006044910.8FGF10, FGFR2
3embryonic digestive tract morphogenesisGO:004855710.8FGF10, FGFR2
4epidermis morphogenesisGO:004873010.8FGF10, FGFR2
5epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.8FGF10, FGFR2
6fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.8FGF10, FGFR2
7lacrimal gland developmentGO:003280810.8FGF10, FGFR2
8limb bud formationGO:006017410.8FGF10, FGFR2
9mammary gland bud formationGO:006061510.8FGF10, FGFR2
10mesenchymal cell differentiation involved in lung developmentGO:006091510.8FGF10, FGFR2
11organ growthGO:003526510.8FGF10, FGFR2
12embryonic digestive tract developmentGO:004856610.7FGF10, FGF9
13lung morphogenesisGO:006042510.7FGF10, FGF8
14mesonephros developmentGO:000182310.7FGF10, FGF8
15outflow tract septum morphogenesisGO:000314810.6FGF8, FGFR2
16negative regulation of cardiac muscle tissue developmentGO:005502610.6FGF3, FGF8
17female genitalia morphogenesisGO:004880710.6FGF10, TP63
18keratinocyte proliferationGO:004361610.6FGF10, TP63
19embryonic pattern specificationGO:000988010.5FGF10, FGFR2, SATB2
20fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.5FGFR1, FGFR2
21positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.5FGF10, FGF9
22mesenchymal cell differentiationGO:004876210.5FGFR1, FGFR2
23orbitofrontal cortex developmentGO:002176910.5FGFR1, FGFR2
24positive regulation of canonical Wnt signaling pathwayGO:009026310.4FGF10, FGF9, FGFR2
25otic vesicle formationGO:003091610.4FGF10, FGF8, FGFR2
26positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:006050110.4FGF7, FGFR2
27animal organ morphogenesisGO:000988710.4FGF10, FGFR2, TP63
28prostatic bud formationGO:006051310.4FGF10, TP63
29epithelial cell differentiationGO:003085510.4FGF10, FGFR2, TP63
30generation of neuronsGO:004869910.4FGF8, FGFR1
31positive regulation of keratinocyte migrationGO:005154910.4FGF10, FGF7
32regulation of smoothened signaling pathwayGO:000858910.3FGF10, FGFR2
33protein localization to cell surfaceGO:003439410.3FGF10, FGF7
34chondrocyte differentiationGO:000206210.2FGF9, FGFR1, FGFR3
35lung-associated mesenchyme developmentGO:006048410.2FGF9, FGFR1, FGFR2
36organ inductionGO:000175910.1FGF10, FGF8, FGFR1
37positive regulation of cardiac muscle cell proliferationGO:006004510.1FGF9, FGFR1, FGFR2
38positive chemotaxisGO:005091810.1FGF10, FGF7, FGF8
39epidermis developmentGO:000854410.1FGF10, FGF7, TP63
40positive regulation of phospholipase activityGO:001051810.1FGFR1, FGFR2, FGFR3
41embryonic limb morphogenesisGO:003032610.0FGF9, FGFR1, TP63
42angiogenesisGO:000152510.0FGF10, FGF9, FGFR1, FGFR2
43positive regulation of keratinocyte proliferationGO:00108389.9FGF10, FGF7, TP63
44positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.9FGF23, FGFR1
45salivary gland morphogenesisGO:00074359.9FGF10, FGFR1
46positive regulation of epithelial cell proliferationGO:00506799.9FGF10, FGF7, FGF9, FGFR2
47hair follicle morphogenesisGO:00310699.9FGF10, FGF7, FGFR2, TP63
48secretion by lung epithelial cell involved in lung growthGO:00610339.8FGF10, FGF7
49squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:00605299.8FGFR2, TP63
50regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:00606659.8FGF10, FGF7, FGFR1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:001713410.2FGFR1, FGFR2, FGFR3
2fibroblast growth factor-activated receptor activityGO:000500710.2FGFR1, FGFR2, FGFR3
3chemoattractant activityGO:004205610.1FGF10, FGF7, FGF8
4fibroblast growth factor receptor bindingGO:00051049.7FGF10, FGF20, FGF3, FGF8, FGF9
5type 2 fibroblast growth factor receptor bindingGO:00051119.7FGF10, FGF7
6heparin bindingGO:00082019.3FGF10, FGF7, FGF9, FGFR1, FGFR2
7growth factor activityGO:00080838.3FGF10, FGF14, FGF20, FGF23, FGF3, FGF7
81-phosphatidylinositol-3-kinase activityGO:00163037.6FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
9phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469347.6FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
10protein tyrosine kinase activityGO:00047137.5FGF10, FGF20, FGF23, FGF3, FGF7, FGF8
11Ras guanyl-nucleotide exchange factor activityGO:00050887.0FGF10, 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