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

Aliases & Descriptions for Ladd Syndrome:

Name: Ladd Syndrome 54 12 50 25 56 13 14
Lacrimoauriculodentodigital Syndrome 54 12 25 56 66 69
Levy-Hollister Syndrome 12 24 25 56 66
Lacrimo-Auriculo-Dento-Digital Syndrome 50 24 25 66
Levy Hollister Syndrome 50 29
Congenital Duodenal Obstruction Due to Malrotation of Intestine 69
Lacrimoauriculodento-Digital Syndrome 50
Lacrimoduriculodentodigital Syndrome 24
Lacrimoauriculoradiodental Syndrome 56
Lard Syndrome 56
Ladds 66
Ladd 24

Characteristics:

Orphanet epidemiological data:

56
lacrimoauriculodentodigital syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal;

HPO:

32
ladd syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 149730
Disease Ontology 12 DOID:0050331
Orphanet 56 ORPHA2363
UMLS via Orphanet 70 C0265269
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0265269

Summaries for Ladd Syndrome

UniProtKB/Swiss-Prot : 66 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 hypertelorism, carious teeth and periorbital fullness. An important gene associated with Ladd Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include salivary gland, eye and kidney, and related phenotypes are growth/size/body region and behavior/neurological

Disease Ontology : 12 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 : 54 Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and... (149730) more...

Related Diseases for Ladd Syndrome

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

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 fgf10-related lacrimo-auriculo-dento-digital syndrome 12.4
2 fgfr2-related lacrimo-auriculo-dento-digital syndrome 12.4
3 fgfr3-related lacrimo-auriculo-dento-digital syndrome 12.4
4 cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants 10.8
5 dacryocystocele 10.3
6 early-onset glaucoma 10.3
7 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.3 FGFR2 FGFR3
8 candidiasis, familial, 3 10.3 FGF8 FGFR3
9 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.2 FGFR1 FGFR2
10 pitx3-related anterior segment mesenchymal dysgenesis 10.2 FGFR1 FGFR2
11 squamous cell carcinoma 10.2 FGF10 FGFR2
12 muenke syndrome 10.2 FGF8 FGFR2 FGFR3
13 hypomyelinating leukodystrophy 13 10.2 SATB2 TP63
14 cervical spinal canal and spinal cord meningioma 10.2 FGFR2 FGFR3
15 catshl syndrome 10.2 FGFR2 TP63
16 aica-ribosiduria due to atic deficiency 10.2 FGFR2 FGFR3 TP63
17 familial porphyria cutanea tarda 10.2 FGFR1 FGFR2 FGFR3
18 hartsfield syndrome 10.2 FGFR1 FGFR2 FGFR3
19 pointer syndrome 10.2 FGFR1 FGFR2 FGFR3
20 osteoglophonic dysplasia 10.2 FGFR1 FGFR2 FGFR3
21 benign essential hypertension 10.1 FGF10 FGF8 FGFR2
22 apert syndrome 10.1 FGFR1 FGFR2 FGFR3
23 hypoparathyroidism 10.1 FGFR2 FGFR3 TP63
24 robinow-sorauf syndrome 10.1 FGFR1 FGFR2 FGFR3
25 partial of retinal vein occlusion 10.1 FGF10 FGF7 FGFR2
26 bone structure disease 10.1 FGFR1 FGFR2 FGFR3
27 atrophy of testis 10.1 FGFR1 FGFR2 FGFR3
28 t cell immunodeficiency primary 10.1 FGF9 FGFR1 FGFR3
29 ovarian epithelial cancer 10.1 FGF9 FGFR1 FGFR3
30 heterotaxy 10.1
31 crouzon syndrome with acanthosis nigricans 10.1 FGF3 FGFR1 FGFR2 FGFR3
32 thanatophoric dysplasia, type i 10.1 FGF3 FGFR1 FGFR2 FGFR3
33 fibrous dysplasia 10.0 FGF8 SATB2 TP63
34 orbit lymphoma 10.0 FGF23 GALNT3
35 duodenitis 10.0
36 duodenal obstruction 10.0
37 melanocytic nevus syndrome, congenital, somatic 10.0 FGF23 FGFR3
38 gaze palsy, horizontal, with progressive scoliosis 10.0 SATB2 TP63
39 donnai-barrow syndrome 10.0 FGF23 GALNT3
40 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.0 FGFR1 FGFR2 SATB2 TP63
41 chronic ethmoiditis 10.0 FGFR1 SATB2 TP63
42 cutaneous leishmaniasis 9.9 FGF10 FGF8 FGFR1 FGFR2 FGFR3
43 split foot 9.8
44 split hand 9.8
45 taeniasis 9.8 FGF10 FGF3 FGFR1 FGFR2 SATB2 TP63
46 megacolon 9.8
47 superior mesenteric artery syndrome 9.8
48 scaphocephaly, maxillary retrusion, and mental retardation 9.8 FGF10 FGF7 FGF9 FGFR1 FGFR2 FGFR3
49 hypogonadotropic hypogonadism 2 with or without anosmia 9.7 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
50 limbal stem cell deficiency 9.7

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



Diseases related to Ladd Syndrome

Symptoms & Phenotypes for Ladd Syndrome

Symptoms by clinical synopsis from OMIM:

149730

Clinical features from OMIM:

149730

Human phenotypes related to Ladd Syndrome:

32 (show all 41)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 carious teeth 32 HP:0000670
3 periorbital fullness 32 HP:0000629
4 telecanthus 32 HP:0000506
5 broad forehead 32 HP:0000337
6 clinodactyly of the 5th finger 32 HP:0004209
7 downslanted palpebral fissures 32 HP:0000494
8 xerostomia 32 HP:0000217
9 hypodontia 32 HP:0000668
10 nasolacrimal duct obstruction 32 HP:0000579
11 partial duplication of thumb phalanx 32 HP:0009944
12 hyperextensible skin 32 HP:0000974
13 hypoplasia of the ulna 32 HP:0003022
14 conical incisor 32 HP:0011065
15 hypoplasia of the radius 32 HP:0002984
16 delayed eruption of primary teeth 32 HP:0000680
17 cupped ear 32 HP:0000378
18 alacrima 32 HP:0000522
19 renal agenesis 32 HP:0000104
20 absent radius 32 HP:0003974
21 dacryocystitis 32 HP:0000620
22 coronal hypospadias 32 HP:0008743
23 mixed hearing impairment 32 HP:0000410
24 corneal perforation 32 HP:0100583
25 2-3 finger syndactyly 32 HP:0001233
26 hypoplasia of dental enamel 32 HP:0006297
27 absent lacrimal punctum 32 HP:0001092
28 small thenar eminence 32 HP:0001245
29 hypoplastic lacrimal duct 32 HP:0007900
30 broad hallux 32 HP:0010055
31 preaxial polydactyly 32 HP:0100258
32 recurrent corneal erosions 32 HP:0000495
33 radial deviation of the 3rd finger 32 HP:0009462
34 bilateral triphalangeal thumbs 32 HP:0005707
35 absence of stensen duct 32 HP:0000198
36 lacrimal gland aplasia 32 HP:0007656
37 lacrimal gland hypoplasia 32 HP:0007732
38 hypoplasia of the lacrimal puncta 32 HP:0007892
39 absent proximal phalanx of thumb 32 HP:0009637
40 aplasia of the parotid gland 32 HP:0009740
41 nephrosclerosis 32 HP:0009741

MGI Mouse Phenotypes related to Ladd Syndrome:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.38 FGF8 FGF9 FGFR1 FGFR2 FGFR3 GALNT3
2 behavior/neurological MP:0005386 10.29 FGFR2 FGFR3 TP63 FGF10 FGF14 FGF3
3 craniofacial MP:0005382 10.27 TP63 FGF10 FGF8 FGF9 FGFR1 FGFR2
4 digestive/alimentary MP:0005381 10.27 FGF10 FGF23 FGF8 FGF9 FGFR1 FGFR2
5 homeostasis/metabolism MP:0005376 10.27 GALNT3 PSAT1 SATB2 TP63 FGF10 FGF23
6 cardiovascular system MP:0005385 10.24 FGF10 FGF23 FGF8 FGF9 FGFR1 FGFR2
7 immune system MP:0005387 10.22 ARID1B FGF10 FGF23 FGF3 FGF7 FGF8
8 endocrine/exocrine gland MP:0005379 10.2 FGF10 FGF23 FGF8 FGF9 FGFR1 FGFR2
9 limbs/digits/tail MP:0005371 10.17 FGF10 FGF23 FGF3 FGF8 FGF9 FGFR1
10 hematopoietic system MP:0005397 10.16 ARID1B FGF10 FGF23 FGF7 FGF8 FGFR1
11 integument MP:0010771 10.16 FGF10 FGF20 FGF23 FGF7 FGF9 FGFR1
12 hearing/vestibular/ear MP:0005377 10.13 FGF10 FGF20 FGF3 FGF8 FGF9 FGFR1
13 embryo MP:0005380 10.1 FGF10 FGF3 FGF8 FGFR1 FGFR2 SATB2
14 nervous system MP:0003631 10.1 FGF10 FGF14 FGF20 FGF3 FGF7 FGF8
15 reproductive system MP:0005389 10 FGF10 FGF23 FGF3 FGF7 FGF8 FGF9
16 normal MP:0002873 9.97 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
17 renal/urinary system MP:0005367 9.97 TP63 FGF10 FGF23 FGF7 FGF8 FGFR1
18 respiratory system MP:0005388 9.76 FGF10 FGF23 FGF8 FGF9 FGFR2 FGFR3
19 skeleton MP:0005390 9.73 FGF10 FGF23 FGF3 FGF7 FGF8 FGF9
20 vision/eye MP:0005391 9.23 FGF10 FGF7 FGF8 FGF9 FGFR1 FGFR2

Drugs & Therapeutics for Ladd Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3
2 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928

Search NIH Clinical Center for Ladd Syndrome

Genetic Tests for Ladd Syndrome

Genetic tests related to Ladd Syndrome:

id Genetic test Affiliating Genes
1 Levy-Hollister Syndrome 29
2 Lacrimo-Auriculo-Dento-Digital Syndrome 24 FGFR3

Anatomical Context for Ladd Syndrome

MalaCards organs/tissues related to Ladd Syndrome:

39
Salivary Gland, Eye, Kidney, Skin, Bone

Publications for Ladd Syndrome

Articles related to Ladd Syndrome:

(show all 22)
id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Ladd Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 FGF10 p.Cys106Phe VAR_029888 rs104893885
2 FGF10 p.Ile156Arg VAR_029889 rs104893886
3 FGFR2 p.Ala628Thr VAR_029884 rs121918509
4 FGFR2 p.Ala648Thr VAR_029885 rs121918508
5 FGFR3 p.Asp513Asn VAR_029887 rs121913112

ClinVar genetic disease variations for Ladd Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGF10 NM_004465.1(FGF10): c.317G> T (p.Cys106Phe) single nucleotide variant Pathogenic rs104893885 GRCh37 Chromosome 5, 44388468: 44388468
2 FGF10 NM_004465.1(FGF10): c.467T> G (p.Ile156Arg) single nucleotide variant Pathogenic rs104893886 GRCh37 Chromosome 5, 44305257: 44305257
3 FGF10 NM_004465.1(FGF10): c.409A> T (p.Lys137Ter) single nucleotide variant Pathogenic rs104893887 GRCh37 Chromosome 5, 44310549: 44310549
4 FGFR2 NM_000141.4(FGFR2): c.1942G> A (p.Ala648Thr) single nucleotide variant Pathogenic rs121918508 GRCh37 Chromosome 10, 123247549: 123247549
5 FGFR2 NM_000141.4(FGFR2): c.1947_1949delAGA (p.Arg649_Asp650delinsSer) deletion Pathogenic rs879253720 GRCh37 Chromosome 10, 123247542: 123247544
6 FGFR2 NM_000141.4(FGFR2): c.1882G> A (p.Ala628Thr) single nucleotide variant Pathogenic rs121918509 GRCh37 Chromosome 10, 123247609: 123247609
7 FGFR3 NM_000142.4(FGFR3): c.1537G> A (p.Asp513Asn) single nucleotide variant Pathogenic rs121913112 GRCh37 Chromosome 4, 1807288: 1807288

Expression for Ladd Syndrome

Search GEO for disease gene expression data for Ladd Syndrome.

Pathways for Ladd Syndrome

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

(show all 43)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
2
Show member pathways
13.81 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
3
Show member pathways
13.81 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
4
Show member pathways
13.75 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
5
Show member pathways
13.73 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
6
Show member pathways
13.58 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
7
Show member pathways
13.57 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
8
Show member pathways
13.54 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
9
Show member pathways
13.49 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
10
Show member pathways
13.45 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
11
Show member pathways
13.41 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
12
Show member pathways
13.37 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
13
Show member pathways
13.35 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
14
Show member pathways
13.32 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
15
Show member pathways
13.21 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
16
Show member pathways
13.14 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
17
Show member pathways
13.12 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
18
Show member pathways
13.12 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
19
Show member pathways
12.98 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
20
Show member pathways
12.88 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
21
Show member pathways
12.85 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
22 12.85 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
23
Show member pathways
12.84 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
24 12.77 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
25
Show member pathways
12.67 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
26 12.64 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
27 12.62 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
28
Show member pathways
12.56 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
29
Show member pathways
12.41 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
30
Show member pathways
12.28 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
31 12.09 FGF10 FGF3 FGF7 TP63
32 12.01 FGFR1 FGFR2 FGFR3
33
Show member pathways
11.98 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
34
Show member pathways
11.97 FGF20 FGF23 FGF8 FGF9 FGFR1
35 11.96 FGF8 FGFR1 FGFR2 FGFR3
36 11.88 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
37 11.85 FGF10 FGF8 FGFR1 FGFR3
38 11.8 FGFR1 FGFR2 FGFR3
39
Show member pathways
11.8 FGF20 FGF23 FGF8 FGF9 FGFR3 GALNT3
40 11.66 FGFR1 FGFR2 FGFR3
41 11.52 FGF23 FGFR1 FGFR2
42
Show member pathways
11.52 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
43 11.5 FGFR1 FGFR2 FGFR3

GO Terms for Ladd Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.4 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7

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

(show top 50) (show all 72)
id Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.98 FGF10 FGF8 FGF9 FGFR1 FGFR2
2 positive regulation of MAPK cascade GO:0043410 9.96 FGF10 FGF9 FGFR1 FGFR2 FGFR3
3 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.96 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
4 positive regulation of epithelial cell proliferation GO:0050679 9.92 FGF10 FGF7 FGF9 FGFR2
5 positive regulation of canonical Wnt signaling pathway GO:0090263 9.91 FGF10 FGF9 FGFR2
6 animal organ morphogenesis GO:0009887 9.91 FGF10 FGFR2 TP63
7 epidermis development GO:0008544 9.91 FGF10 FGF7 TP63
8 inner ear morphogenesis GO:0042472 9.91 FGF10 FGF8 FGF9 FGFR1 FGFR2
9 chromatin remodeling GO:0006338 9.9 ARID1B SATB2 TP63
10 epithelial cell differentiation GO:0030855 9.89 FGF10 FGFR2 TP63
11 positive regulation of cell division GO:0051781 9.89 FGF3 FGF7 FGF8 FGF9 FGFR2
12 positive regulation of mesenchymal cell proliferation GO:0002053 9.88 FGF9 FGFR1 FGFR2 TP63
13 embryonic limb morphogenesis GO:0030326 9.87 FGF9 FGFR1 TP63
14 hair follicle morphogenesis GO:0031069 9.87 FGF10 FGF7 FGFR2 TP63
15 chondrocyte differentiation GO:0002062 9.86 FGF9 FGFR1 FGFR3
16 positive chemotaxis GO:0050918 9.85 FGF10 FGF7 FGF8
17 phosphatidylinositol-mediated signaling GO:0048015 9.85 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
18 embryonic pattern specification GO:0009880 9.84 FGF10 FGFR2 SATB2
19 branching involved in salivary gland morphogenesis GO:0060445 9.83 FGF10 FGF7 FGF8 FGFR1 FGFR2
20 positive regulation of cardiac muscle cell proliferation GO:0060045 9.8 FGF9 FGFR1 FGFR2
21 organ induction GO:0001759 9.79 FGF10 FGF8 FGFR1
22 lung-associated mesenchyme development GO:0060484 9.79 FGF9 FGFR1 FGFR2
23 positive regulation of keratinocyte proliferation GO:0010838 9.78 FGF10 FGF7 TP63
24 positive regulation of phospholipase activity GO:0010518 9.77 FGFR1 FGFR2 FGFR3
25 otic vesicle formation GO:0030916 9.77 FGF10 FGF8 FGFR2
26 outflow tract septum morphogenesis GO:0003148 9.74 FGF8 FGFR2
27 protein localization to cell surface GO:0034394 9.74 FGF10 FGF7
28 regulation of smoothened signaling pathway GO:0008589 9.74 FGF10 FGFR2
29 lung morphogenesis GO:0060425 9.74 FGF10 FGF8
30 embryonic digestive tract morphogenesis GO:0048557 9.74 FGF10 FGFR2
31 embryonic digestive tract development GO:0048566 9.73 FGF10 FGF9
32 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.73 FGF10 FGF9
33 mesonephros development GO:0001823 9.73 FGF10 FGF8
34 generation of neurons GO:0048699 9.73 FGF8 FGFR1
35 keratinocyte proliferation GO:0043616 9.73 FGF10 TP63
36 organ growth GO:0035265 9.72 FGF10 FGFR2
37 salivary gland morphogenesis GO:0007435 9.72 FGF10 FGFR1
38 limb bud formation GO:0060174 9.72 FGF10 FGFR2
39 mesenchymal cell differentiation GO:0048762 9.72 FGFR1 FGFR2
40 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.72 FGF10 FGF7 FGFR1
41 positive regulation of keratinocyte migration GO:0051549 9.71 FGF10 FGF7
42 endochondral bone growth GO:0003416 9.71 FGFR2 FGFR3
43 lacrimal gland development GO:0032808 9.71 FGF10 FGFR2
44 epidermis morphogenesis GO:0048730 9.7 FGF10 FGFR2
45 bud elongation involved in lung branching GO:0060449 9.7 FGF10 FGFR2
46 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.7 FGF7 FGFR2
47 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.69 FGF10 FGFR2
48 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.69 FGF23 FGFR1
49 prostatic bud formation GO:0060513 9.69 FGF10 TP63
50 orbitofrontal cortex development GO:0021769 9.68 FGFR1 FGFR2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.97 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.96 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.85 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
4 heparin binding GO:0008201 9.83 FGF10 FGF7 FGF9 FGFR1 FGFR2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.69 FGFR1 FGFR2 FGFR3
6 chemoattractant activity GO:0042056 9.65 FGF10 FGF7 FGF8
7 1-phosphatidylinositol-3-kinase activity GO:0016303 9.65 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
8 fibroblast growth factor binding GO:0017134 9.63 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor-activated receptor activity GO:0005007 9.58 FGFR1 FGFR2 FGFR3
10 receptor-receptor interaction GO:0090722 9.49 FGF20 FGFR1
11 fibroblast growth factor receptor binding GO:0005104 9.17 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
12 protein tyrosine kinase activity GO:0004713 10.02 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8

Sources for Ladd Syndrome

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
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