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 50 11 46 24 13 52 12
Lacrimoauriculodentodigital Syndrome 50 11 24 52 68 66
Levy-Hollister Syndrome 11 23 24 52 68
Lacrimo-Auriculo-Dento-Digital Syndrome 46 23 24 68
Levy Hollister Syndrome 46 25
Congenital Duodenal Obstruction Due to Malrotation of Intestine 66
 
Lacrimoauriculodento-Digital Syndrome 46
Lacrimoduriculodentodigital Syndrome 23
Lacrimoauriculoradiodental Syndrome 52
Lard Syndrome 52
Ladds 68
Ladd 23

Characteristics:

Orphanet epidemiological data:

52
ladd syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal

HPO:

62
ladd syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 149730
Disease Ontology11 DOID:0050331
Orphanet52 ORPHA2363
ICD10 via Orphanet29 Q87.8
UMLS via Orphanet67 C0265269
MedGen35 C0265269

Summaries for Ladd Syndrome

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UniProtKB/Swiss-Prot:68 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and VEGF Signaling. Affiliated tissues include salivary gland, eye and kidney, and related mouse phenotypes are muscle 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:24 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:50 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 56)
idRelated DiseaseScoreTop Affiliating Genes
1fgf10-related lacrimo-auriculo-dento-digital syndrome12.6
2fgfr2-related lacrimo-auriculo-dento-digital syndrome12.6
3fgfr3-related lacrimo-auriculo-dento-digital syndrome12.6
4cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants11.0
5conjunctiva squamous cell carcinoma10.7FGF10, FGFR2
6mite infestation10.6FGFR2, FGFR3
7apert syndrome10.6FGFR2, FGFR3
8dacryocystocele10.5
9early-onset glaucoma10.5
10accommodative esotropia10.5FGFR2, FGFR3
11catshl syndrome10.4FGFR2, TP63
12pfn1-related amyotrophic lateral sclerosis10.3FGFR1, FGFR2
13crouzon syndrome with acanthosis nigricans10.3FGF8, FGFR2, FGFR3
14goiter, multinodular 1, with or without sertoli-leydig cell tumors10.3FGF10, FGF9
15facial paralysis10.2SATB2, TP63
16heterotaxy10.2
17uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.2FGFR1, FGFR2
18serous conjunctivitis except viral10.2FGFR2, FGFR3, TP63
19flnb-related disorders10.1FGFR1, FGFR2, FGFR3
20plasmalogens synthesis deficiency isolated10.1FGFR1, FGFR2, FGFR3
21trigonocephaly 110.1FGFR1, FGFR2, FGFR3
22bladder cancer, somatic10.1FGFR1, FGFR2, FGFR3
23hypogonadotropic hypogonadism 2 with or without anosmia10.1FGFR1, FGFR2, FGFR3
24beare-stevenson cutis gyrata syndrome10.1FGFR1, FGFR2, FGFR3
25ischemic bone disease10.1FGFR1, FGFR2, FGFR3
26craniosynostosis, type 110.1FGFR1, FGFR2, FGFR3
27duodenal obstruction10.1
28duodenitis10.1
29epidermal nevus, somatic10.1FGF23, FGFR3
30hypertrophic cardiomyopathy10.1FGFR1, FGFR2, FGFR3
31osteopetrosis and infantile neuroaxonal dystrophy10.0FGF9, FGFR1, FGFR3
32syphilitic myelopathy10.0FGF9, FGFR1, FGFR3
33split foot10.0
34split hand10.0
35mckusick type metaphyseal dysplasia9.9FGF8, SATB2, TP63
36superior mesenteric artery syndrome9.9
37thanatophoric dysplasia, type i9.9FGF3, FGFR1, FGFR2, FGFR3
38hypochondroplasia9.9FGF3, FGFR1, FGFR2, FGFR3
39substance dependence9.9FGF23, GALNT3
40tumoral calcinosis, hyperphosphatemic, familial9.8FGF23, GALNT3
41digestive duplication9.8FGF8, FGFR1
42limbal stem cell deficiency9.8
43familial wilms tumor 29.8FGF23, GALNT3
44capillariasis9.8FGF23, GALNT3
45myocardium cancer9.7FGFR1, SATB2, TP63
46weill-marchesani syndrome9.7FGFR1, FGFR2
47peroxisome biogenesis disorder 2a9.7FGF23, GALNT3
48central nervous system leukemia9.6ARID1B, FGF10, FGFR1, FGFR2, FGFR3
49sensory peripheral neuropathy9.6FGF23, GALNT3
50antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.6FGF10, FGF9, FGFR1, FGFR2, FGFR3

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

HPO human phenotypes related to Ladd Syndrome:

(show all 84)
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 renal agenesis HP:0000104
45 absence of stensen duct HP:0000198
46 xerostomia HP:0000217
47 hypertelorism HP:0000316
48 broad forehead HP:0000337
49 cupped ear HP:0000378
50 mixed hearing impairment HP:0000410
51 downslanted palpebral fissures HP:0000494
52 recurrent corneal erosions HP:0000495
53 telecanthus HP:0000506
54 alacrima HP:0000522
55 nasolacrimal duct obstruction HP:0000579
56 dacryocystitis HP:0000620
57 periorbital fullness HP:0000629
58 hypodontia HP:0000668
59 carious teeth HP:0000670
60 delayed eruption of primary teeth HP:0000680
61 hyperextensible skin HP:0000974
62 absent lacrimal punctum HP:0001092
63 2-3 finger syndactyly HP:0001233
64 small thenar eminence HP:0001245
65 hypoplasia of the radius HP:0002984
66 hypoplasia of the ulna HP:0003022
67 absent radius HP:0003974
68 clinodactyly of the 5th finger HP:0004209
69 bilateral triphalangeal thumbs HP:0005707
70 hypoplasia of dental enamel HP:0006297
71 lacrimal gland aplasia HP:0007656
72 lacrimal gland hypoplasia HP:0007732
73 hypoplasia of the lacrimal puncta HP:0007892
74 hypoplastic lacrimal duct HP:0007900
75 coronal hypospadias HP:0008743
76 radial deviation of the 3rd finger HP:0009462
77 absent proximal phalanx of thumb HP:0009637
78 aplasia of the parotid gland HP:0009740
79 nephrosclerosis HP:0009741
80 partial duplication of thumb phalanx HP:0009944
81 broad hallux HP:0010055
82 conical incisor HP:0011065
83 preaxial polydactyly HP:0100258
84 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 Levy-Hollister Syndrome25
2 Lacrimo-Auriculo-Dento-Digital Syndrome23 FGFR3

Anatomical Context for Ladd Syndrome

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MalaCards organs/tissues related to Ladd Syndrome:

34
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:

39 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4FGF10, FGF8, FGF9, FGFR1, FGFR2, TP63
2MP:00053778.3FGF10, FGF20, FGF3, FGF8, FGF9, FGFR1
3MP:00053808.2FGF10, FGF3, FGF8, FGFR1, FGFR2, SATB2
4MP:00053918.0FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
5MP:00028737.8FGF10, FGF3, FGF8, FGF9, FGFR1, FGFR2
6MP:00053887.7FGF10, FGF23, FGF8, FGF9, FGFR2, FGFR3
7MP:00053827.5FGF10, FGF8, FGF9, FGFR1, FGFR2, FGFR3
8MP:00053867.3FGF10, FGF14, FGF3, FGF8, FGF9, FGFR1
9MP:00107717.2FGF10, FGF20, FGF23, FGF9, FGFR1, FGFR2
10MP:00053677.0FGF10, FGF23, FGF8, FGFR1, FGFR2, FGFR3
11MP:00053896.7FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
12MP:00053856.7FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
13MP:00107686.7FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
14MP:00053796.6FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
15MP:00053816.5FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
16MP:00053766.1FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2
17MP:00053905.9FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1
18MP:00053785.7FGF10, FGF14, FGF23, FGF3, FGF8, FGF9
19MP:00053715.6FGF10, FGF23, FGF3, FGF8, FGF9, FGFR1

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:

68
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)single nucleotide variantPathogenicrs121918508GRCh37Chr 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)single nucleotide variantPathogenicrs121918509GRCh37Chr 10, 123247609: 123247609
4FGFR3NM_000142.4(FGFR3): c.1537G> A (p.Asp513Asn)single nucleotide variantPathogenicrs121913112GRCh37Chr 4, 1807288: 1807288
5FGF10NM_004465.1(FGF10): c.317G> T (p.Cys106Phe)single nucleotide variantPathogenicrs104893885GRCh37Chr 5, 44388468: 44388468
6FGF10NM_004465.1(FGF10): c.467T> G (p.Ile156Arg)single nucleotide variantPathogenicrs104893886GRCh37Chr 5, 44305257: 44305257
7FGF10NM_004465.1(FGF10): c.409A> T (p.Lys137Ter)single nucleotide variantPathogenicrs104893887GRCh37Chr 5, 44310549: 44310549

Expression for genes affiliated with Ladd Syndrome

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Search GEO for disease gene expression data for Ladd Syndrome.

Pathways for genes affiliated with Ladd Syndrome

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

(show all 45)
idSuper pathwaysScoreTop Affiliating Genes
19.4FGF10, FGF3, TP63
2
Show member pathways
9.4FGFR1, FGFR2, FGFR3
39.4FGFR1, FGFR2, FGFR3
4
Show member pathways
9.4FGFR1, FGFR2, FGFR3
59.4FGFR1, FGFR2, FGFR3
6
Show member pathways
9.4FGFR1, FGFR2, FGFR3
79.4FGFR1, FGFR2, FGFR3
89.4FGFR1, FGFR2, FGFR3
99.1FGF3, FGFR1, FGFR2, FGFR3
109.0FGF10, FGF8, FGFR1, FGFR3
119.0FGF8, FGFR1, FGFR2, FGFR3
128.8FGF23, FGFR1, FGFR2
13
Show member pathways
7.9FGF20, FGF23, FGF8, FGF9, FGFR1
14
Show member pathways
7.9FGF20, FGF23, FGF8, FGF9, FGFR3, GALNT3
15
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
16
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
17
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
18
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
19
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
20
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
21
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
22
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
237.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
24
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
25
Show member pathways
7.3FGF10, FGF14, FGF20, FGF23, FGF8, FGFR1
26
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
27
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
28
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
29
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
30
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
31
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
32
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
33
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
34
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
35
Show member pathways
6.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
36
Show member pathways
6.9FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
37
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
386.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
39
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
406.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
41
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
42
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
43
Show member pathways
6.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
446.7FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
456.7FGF10, FGF14, FGF20, FGF23, FGF3, 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:00055766.1FGF10, FGF14, FGF20, FGF23, FGF3, FGF8

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

(show top 50)    (show all 67)
idNameGO IDScoreTop Affiliating Genes
1mammary gland bud formationGO:006061510.7FGF10, FGFR2
2mesenchymal cell differentiation involved in lung developmentGO:006091510.7FGF10, FGFR2
3branch elongation involved in salivary gland morphogenesisGO:006066710.7FGF10, FGFR2
4fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.7FGF10, FGFR2
5lacrimal gland developmentGO:003280810.7FGF10, FGFR2
6epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.7FGF10, FGFR2
7bud elongation involved in lung branchingGO:006044910.6FGF10, FGFR2
8epidermis morphogenesisGO:004873010.6FGF10, FGFR2
9limb bud formationGO:006017410.6FGF10, FGFR2
10negative regulation of cardiac muscle tissue developmentGO:005502610.5FGF3, FGF8
11female genitalia morphogenesisGO:004880710.4FGF10, TP63
12prostatic bud formationGO:006051310.4FGF10, TP63
13squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.4FGFR2, TP63
14regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:006066510.4FGF10, FGFR1
15fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.4FGFR1, FGFR2
16positive regulation of keratinocyte proliferationGO:001083810.3FGF10, TP63
17mesenchymal cell differentiationGO:004876210.3FGFR1, FGFR2
18otic vesicle formationGO:003091610.2FGF10, FGF8, FGFR2
19ventricular zone neuroblast divisionGO:002184710.1FGFR1, FGFR2
20embryonic pattern specificationGO:000988010.0FGF10, FGFR2, SATB2
21hair follicle morphogenesisGO:003106910.0FGF10, FGFR2, TP63
22positive regulation of epithelial cell proliferationGO:00506799.9FGF10, FGF9, FGFR2
23positive regulation of phospholipase activityGO:00105189.9FGFR1, FGFR2, FGFR3
24organ inductionGO:00017599.9FGF10, FGF8, FGFR1
25positive regulation of cardiac muscle cell proliferationGO:00600459.8FGF9, FGFR1, FGFR2
26positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.8FGF23, FGFR1
27chondrocyte differentiationGO:00020629.8FGF9, FGFR1, FGFR3
28positive regulation of cell divisionGO:00517819.7FGF3, FGF8, FGF9, FGFR2
29epithelial cell differentiationGO:00308559.6FGF10, FGFR2, TP63
30orbitofrontal cortex developmentGO:00217699.5FGFR1, FGFR2
31branching involved in salivary gland morphogenesisGO:00604459.5FGF10, FGF8, FGFR1, FGFR2
32angiogenesisGO:00015259.4FGF10, FGF9, FGFR1, FGFR2
33lung-associated mesenchyme developmentGO:00604849.3FGF9, FGFR1, FGFR2
34embryonic limb morphogenesisGO:00303269.3FGF9, FGFR1, TP63
35positive regulation of mesenchymal cell proliferationGO:00020539.2FGF9, FGFR1, FGFR2, TP63
36positive regulation of MAPK cascadeGO:00434109.1FGF10, FGF9, FGFR1, FGFR2, FGFR3
37lung developmentGO:00303249.0FGF10, FGF8, FGF9, FGFR1, FGFR2
38cell-cell signalingGO:00072679.0FGF10, FGF14, FGF20, FGF3, FGF9, FGFR2
39inner ear morphogenesisGO:00424728.9FGF10, FGF8, FGF9, FGFR1, FGFR2
40cell differentiationGO:00301548.7FGF10, FGF20, FGF23, FGF3, TP63
41positive regulation of ERK1 and ERK2 cascadeGO:00703747.9FGF10, FGF20, FGF23, FGF8, FGFR2, FGFR3
42positive regulation of cell proliferationGO:00082847.8FGF10, FGF20, FGF3, FGF8, FGF9, FGFR1
43phosphatidylinositol-3-phosphate biosynthetic processGO:00360927.6FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
44phosphatidylinositol phosphorylationGO:00468547.6FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
45regulation of phosphatidylinositol 3-kinase signalingGO:00140667.5FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
46phosphatidylinositol-mediated signalingGO:00480157.5FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
47peptidyl-tyrosine phosphorylationGO:00181087.4FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
48MAPK cascadeGO:00001657.3FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
49fibroblast growth factor receptor signaling pathwayGO:00085437.0FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
50positive regulation of GTPase activityGO:00435476.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1chemoattractant activityGO:004205610.1FGF10, FGF8
2fibroblast growth factor-activated receptor activityGO:000500710.0FGFR1, FGFR2, FGFR3
3fibroblast growth factor bindingGO:00171349.6FGFR1, FGFR2, FGFR3
4fibroblast growth factor receptor bindingGO:00051049.5FGF10, FGF20, FGF3, FGF8, FGF9
5heparin bindingGO:00082019.1FGF10, FGF9, FGFR1, FGFR2
6growth factor activityGO:00080837.5FGF10, FGF14, FGF20, FGF23, FGF3, FGF8
71-phosphatidylinositol-3-kinase activityGO:00163037.5FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
8phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469347.4FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
9Ras guanyl-nucleotide exchange factor activityGO:00050886.9FGF10, FGF20, FGF23, FGF3, FGF8, FGF9
10protein tyrosine kinase activityGO:00047136.8FGF10, FGF20, FGF23, FGF3, FGF8, FGF9

Sources for Ladd Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
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65Tumor Gene Family of Databases
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