LADD
MCID: LCR014
MIFTS: 61

Lacrimoauriculodentodigital Syndrome (LADD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases
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Aliases & Classifications for Lacrimoauriculodentodigital Syndrome

MalaCards integrated aliases for Lacrimoauriculodentodigital Syndrome:

Name: Lacrimoauriculodentodigital Syndrome 57 11 42 58 73 71
Ladd Syndrome 57 11 19 42 58 73 12 14 38
Levy-Hollister Syndrome 57 11 42 58 73 28 5
Lacrimo-Auriculo-Dento-Digital Syndrome 19 42 73
Congenital Duodenal Obstruction Due to Malrotation of Intestine 71
Lacrimoauriculodento-Digital Syndrome 19
Lacrimoauriculoradiodental Syndrome 58
Levy Hollister Syndrome 19
Lard Syndrome 58
Ladds 73
Ladd 57

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Lacrimoauriculodentodigital Syndrome

MedlinePlus Genetics: 42 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).The lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears.Ears that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss).People with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors).Hand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement.People with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members.

MalaCards based summary: Lacrimoauriculodentodigital Syndrome, also known as ladd syndrome, is related to aplasia of lacrimal and salivary glands and synostosis. An important gene associated with Lacrimoauriculodentodigital Syndrome is FGF10 (Fibroblast Growth Factor 10), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and Disease. Affiliated tissues include eye, kidney and skin, and related phenotypes are carious teeth and keratoconjunctivitis sicca

GARD: 19 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.

Orphanet: 58 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.

UniProtKB/Swiss-Prot: 73 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.

OMIM®: 57 Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). (149730) (Updated 08-Dec-2022)

Disease Ontology: 11 A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.

Related Diseases for Lacrimoauriculodentodigital Syndrome

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 aplasia of lacrimal and salivary glands 30.5 TBX4 FGFR2 FGF3 FGF10
2 synostosis 30.2 SHH GDF5 FGFR3 FGFR2 FGFR1 FGF9
3 diaphragmatic hernia, congenital 30.1 TBX4 SHH FGF7 FGF10
4 cleft lip 30.0 SHH FGFR2 FGFR1 FGF8 FGF10
5 choanal atresia, posterior 30.0 SHH FGFR1 FGF8
6 tooth agenesis 29.7 SHH FGFR2 FGFR1 FGF8 FGF4 FGF3
7 chromosome 2q35 duplication syndrome 29.6 SHH GDF5 FGFR3 FGFR2 FGFR1 FGF8
8 thanatophoric dysplasia, type i 29.6 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
9 bone disease 29.5 TBX4 GDF5 FGFR3 FGFR2 FGFR1 FGF9
10 cerebral amyloid angiopathy, app-related 11.0
11 xerophthalmia 10.5
12 dacryocystocele 10.5
13 nasolacrimal duct cyst 10.5
14 volvulus of midgut 10.5
15 pulmonary hypoplasia, familial primary 10.4 TBX4 FGF10
16 pulmonary hypoplasia, primary 10.4 TBX4 FGF10
17 hemifacial hyperplasia 10.4 FGFR3 FGFR2
18 oculodentodigital dysplasia 10.3
19 telecanthus 10.3
20 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.3
21 hypoadrenocorticism, familial 10.3
22 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.3
23 neu-laxova syndrome 1 10.3
24 neu-laxova syndrome 2 10.3
25 autoimmune polyendocrine syndrome type 1 10.3
26 hypoparathyroidism 10.3
27 excessive tearing 10.3
28 autoimmune polyendocrine syndrome 10.3
29 candidiasis 10.3
30 chronic mucocutaneous candidiasis 10.3
31 dental caries 10.3
32 orofaciodigital syndrome 10.3
33 nonsyndromic tooth agenesis 10.3
34 glaucoma, hereditary 10.3
35 exudative vitreoretinopathy 7 10.3 TBX4 FGF10
36 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
37 hartsfield syndrome 10.3 FGFR1 FGF8
38 plagiocephaly 10.3 FGFR3 FGFR2 FGFR1
39 hypertelorism, microtia, facial clefting syndrome 10.3 FGFR3 FGFR2 FGFR1
40 congenital disorder of glycosylation, type iim 10.3 FGFR3 FGFR2 FGFR1
41 neonatal respiratory failure 10.3 TBX4 FGF10
42 normosmic congenital hypogonadotropic hypogonadism 10.3 FGFR1 FGF8 FGF17
43 antley-bixler syndrome 10.3 FGFR3 FGFR2 FGFR1
44 visceral heterotaxy 10.3
45 luteoma 10.3 FGFR3 FGFR2
46 acanthoma 10.2 FGFR3 FGFR2 FGF7 FGF10
47 schimmelpenning-feuerstein-mims syndrome 10.2 FGFR3 FGFR1 FGF23
48 calcific tendinitis 10.2 SCX GDF5
49 ear malformation 10.2
50 beare-stevenson cutis gyrata syndrome 10.2 FGFR3 FGFR2 FGFR1 FGF1

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



Diseases related to Lacrimoauriculodentodigital Syndrome

Symptoms & Phenotypes for Lacrimoauriculodentodigital Syndrome

Human phenotypes related to Lacrimoauriculodentodigital Syndrome:

58 30 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000670
2 keratoconjunctivitis sicca 58 30 Frequent (33%) Frequent (79-30%)
HP:0001097
3 xerostomia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000217
4 abnormal salivary gland morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0010286
5 epiphora 58 30 Frequent (33%) Frequent (79-30%)
HP:0009926
6 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
7 abnormal facial shape 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001999
8 microdontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000691
9 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
10 corneal neovascularization 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011496
11 hypodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000668
12 short thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009778
13 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
14 toe syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001770
15 corneal ulceration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012804
16 hypoplasia of the radius 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002984
17 cupped ear 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000378
18 mixed hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000410
19 absent thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009777
20 lacrimal duct aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007925
21 absent lacrimal punctum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001092
22 clinodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030084
23 decreased corneal sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012155
24 duplication of thumb phalanx 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009942
25 recurrent corneal erosions 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000495
26 lacrimal gland aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007656
27 hypoplasia of the lacrimal punctum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007892
28 limbal stem cell deficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032107
29 enamel hypoplasia 30 Occasional (7.5%) HP:0006297
30 seizure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001250
31 scoliosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002650
32 dysphagia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002015
33 global developmental delay 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001263
34 arthritis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001369
35 microtia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008551
36 cryptorchidism 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000028
37 micrognathia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000347
38 anosmia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000458
39 choanal atresia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000453
40 patent ductus arteriosus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001643
41 vesicoureteral reflux 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000076
42 hydronephrosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000126
43 renal hypoplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000089
44 nail dysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002164
45 bifid uvula 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000193
46 bicornuate uterus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000813
47 exotropia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000577
48 open angle glaucoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012108
49 hypoplasia of the epiglottis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005349
50 increased corneal thickness 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
hypertelorism
telecanthus
nasolacrimal duct obstruction
dacryocystitis
corneal perforation
more
Head And Neck Teeth:
hypodontia
delayed eruption of primary teeth
enamel hypoplasia
peg-shaped incisors
dental caries, severe

Genitourinary Kidneys:
renal agenesis
nephrosclerosis

Head And Neck Mouth:
dry mouth
absent stensen duct
absent parotid gland
oral candidiasis

Skeletal Limbs:
short radius
short ulna

Head And Neck Face:
broad forehead

Skeletal Hands:
triphalangeal thumb
preaxial polydactyly
bifid thumb
digitalized thumb
thenar muscle hypoplasia
more
Genitourinary External Genitalia Male:
coronal hypospadias

Head And Neck Ears:
simple, cup-shaped ears
hearing loss, mixed conductive-sensorineural

Skeletal Feet:
broad halluces
syndactyly, 2-3, 3-4 toe

Clinical features from OMIM®:

149730 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lacrimoauriculodentodigital Syndrome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.48 ETV4 ETV5 FGF10 FGF23 FGF3 FGF4
2 growth/size/body region MP:0005378 10.43 ETV5 FGF10 FGF23 FGF3 FGF4 FGF8
3 nervous system MP:0003631 10.42 ETV4 ETV5 FGF1 FGF10 FGF17 FGF3
4 normal MP:0002873 10.37 FGF1 FGF10 FGF3 FGF4 FGF8 FGF9
5 renal/urinary system MP:0005367 10.31 ETV4 ETV5 FGF10 FGF23 FGF7 FGF8
6 embryo MP:0005380 10.31 ETV4 ETV5 FGF10 FGF3 FGF4 FGF8
7 behavior/neurological MP:0005386 10.25 ETV4 ETV5 FGF10 FGF17 FGF3 FGF4
8 reproductive system MP:0005389 10.22 ETV4 ETV5 FGF10 FGF23 FGF3 FGF4
9 endocrine/exocrine gland MP:0005379 10.21 ETV4 ETV5 FGF10 FGF23 FGF8 FGF9
10 cellular MP:0005384 10.21 ETV5 FGF10 FGF4 FGF8 FGF9 FGFR1
11 hearing/vestibular/ear MP:0005377 10.19 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
12 muscle MP:0005369 10.16 ETV4 FGF10 FGF8 FGF9 FGFR1 FGFR2
13 skeleton MP:0005390 10.16 ETV4 ETV5 FGF10 FGF23 FGF3 FGF4
14 no phenotypic analysis MP:0003012 10.13 ETV4 FGF3 FGFR1 FGFR2 FGFR3 SHH
15 digestive/alimentary MP:0005381 10.13 FGF10 FGF23 FGF8 FGF9 FGFR1 FGFR2
16 craniofacial MP:0005382 10.11 ETV5 FGF10 FGF8 FGF9 FGFR1 FGFR2
17 respiratory system MP:0005388 10.11 ETV5 FGF10 FGF23 FGF4 FGF8 FGF9
18 mortality/aging MP:0010768 9.89 ETV4 ETV5 FGF10 FGF23 FGF3 FGF4
19 vision/eye MP:0005391 9.81 FGF10 FGF7 FGF8 FGF9 FGFR1 FGFR2
20 integument MP:0010771 9.28 ETV4 FGF10 FGF23 FGF7 FGF9 FGFR1

Drugs & Therapeutics for Lacrimoauriculodentodigital Syndrome

Search Clinical Trials, NIH Clinical Center for Lacrimoauriculodentodigital Syndrome

Genetic Tests for Lacrimoauriculodentodigital Syndrome

Genetic tests related to Lacrimoauriculodentodigital Syndrome:

# Genetic test Affiliating Genes
1 Levy-Hollister Syndrome 28 FGF10 FGFR2 FGFR3

Anatomical Context for Lacrimoauriculodentodigital Syndrome

Organs/tissues related to Lacrimoauriculodentodigital Syndrome:

MalaCards : Eye, Kidney, Skin, Bone, Salivary Gland, Uterus, Heart
ODiseA: Kidney

Publications for Lacrimoauriculodentodigital Syndrome

Articles related to Lacrimoauriculodentodigital Syndrome:

(show top 50) (show all 432)
# Title Authors PMID Year
1
Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing. 62 57 5
28483234 2017
2
Mutations in different components of FGF signaling in LADD syndrome. 62 57 5
16501574 2006
3
LADD syndrome is caused by FGF10 mutations. 62 57 5
16630169 2006
4
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 62 5
18056630 2007
5
Limbal stem cell deficiency associated with LADD syndrome. 62 57
15883293 2005
6
LADD syndrome in five members of a three-generation family and prenatal diagnosis. 62 57
8031542 1994
7
Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. 62 57
1415342 1992
8
Lacrimo-auriculo-dento-digital (LADD) syndrome. 62 57
3678282 1987
9
LADD syndrome: report of new cases and review of the clinical spectrum. 62 57
3709571 1986
10
Phenotypic variation in LADD syndrome. 62 57
4078868 1985
11
The lacrimo-auriculo-dento-digital syndrome. 62 57
865946 1977
12
The lacrimo-auriculo-dento-digital syndrome. 62 57
4725147 1973
13
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 5
16912704 2006
14
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. 5
15654336 2005
15
Mesoectodermal dysplasia. A new combination of anomalies. 57
6066655 1967
16
Laparoscopic Duodenal-Caudal Detachment Method: Early Experience of a Novel Technique for Malrotation with Volvulus in Neonates. 62
36383112 2022
17
Laser-Assisted Drug Delivery in the Treatment of Scars, Rhytids, and Melasma: A Comprehensive Review of the Literature. 62
36325715 2022
18
More evidence against appendectomy at the time of a Ladd procedure. 62
35738918 2022
19
Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report. 62
35870793 2022
20
Efficacy and safety of laser-assisted delivery of tranexamic acid for the treatment of melasma: a systematic review and meta‚ÄĎanalysis. 62
36403155 2022
21
Within-day variation and health risk assessment of trihalomethanes (THMs) in a chlorinated indoor swimming pool in China. 62
36210406 2022
22
A Synthetic Blend of Fruit and Live Yeast Odours Shows Promise for Trapping Mated Female Queensland Fruit Fly, Bactrocera tryoni, in the Field. 62
36222963 2022
23
Evidence-Based Clinical Practice Guidelines for Laser-Assisted Drug Delivery. 62
35976634 2022
24
Left-sided acute appendicitis with congenital gastrointestinal malrotation. 62
36091318 2022
25
Recurrent Volvulus After Ladd Procedure. 62
36031935 2022
26
Characteristics of particle-bound polycyclic aromatic hydrocarbons (PAHs) in indoor PM2.5 of households in the Southwest part of Ulaanbaatar capital, Mongolia. 62
35951250 2022
27
Impact of gastrointestinal comorbidities in patients with right and left atrial isomerism. 62
34470692 2022
28
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia. 62
33967277 2022
29
Characteristics and assessing biological risks of airborne bacteria in waste sorting plant. 62
35121253 2022
30
Target sign of intussusception versus whirlpool sign of midgut volvulus. 62
35003458 2022
31
Safety and preliminary immunogenicity of JNJ-64041809, a live-attenuated, double-deleted Listeria monocytogenes-based immunotherapy, in metastatic castration-resistant prostate cancer. 62
34257408 2022
32
18-year-old with Abdominal Pain Due to Congenital Bowel Malrotation: A Case Report. 62
35226849 2022
33
Adult Intestinal Malrotation Treated with Laparoscopic Ladd Procedure. 62
36304201 2022
34
Phenotypic spectrum of FGF10-related disorders: a systematic review. 62
36124135 2022
35
Cecal volvulus in rural Kenya: delayed presentation contributes to high mortality. 62
34923984 2021
36
Probabilistic health risk assessment of chlorpyrifos exposure among applicators on rice farms in Ghana. 62
34258701 2021
37
Analysis and health risk assessment of phthalate esters (PAEs) in indoor dust of preschool and elementary school centers in city of Tehran, Iran. 62
34173141 2021
38
Laser-Assisted Drug Delivery of Tranexamic Acid by Picosecond Laser in Postinflammatory Hyperpigmentation: A Split-Area Double Blind Randomized Prospective Study. 62
34762534 2021
39
Intestinal malrotation in extremely premature infants: a potential trap. 62
34304286 2021
40
A rare congenital esophageal anomaly mimicking an isolated esophageal atresia: Kluth Type IV1a membranous esophageal atresia. 62
34273127 2021
41
Treatment of Scars with Laser-Assisted Delivery of Growth Factors and Vitamin C: A Comparative, Randomised, Double-blind, Early Clinical Trial. 62
33881605 2021
42
Polymeric long-acting drug delivery systems (LADDS) for treatment of chronic diseases: Inserts, patches, wafers, and implants. 62
34481032 2021
43
Characterization and health risk assessment of particulate bound polycyclic aromatic hydrocarbons (PAHs) in indoor and outdoor atmosphere of Central East India. 62
34050507 2021
44
Esophageal Atresia and Respiratory Morbidity. 62
34413249 2021
45
Thermodynamic stability of hard sphere crystals in dimensions 3 through 10. 62
34370117 2021
46
Midgut malrotation: a rare presentation of bowel obstruction in the adult. 62
34316348 2021
47
Comparative Study on the Outcome of Periorbital Wrinkles Treated with Laser-Assisted Delivery of Vitamin C or Vitamin C Plus Growth Factors: A Randomized, Double-blind, Clinical Trial. 62
33326047 2021
48
Levels of heavy metal cadmium in rice (Oryza sativa L.) produced in Taiwan and probabilistic risk assessment for the Taiwanese population. 62
33543437 2021
49
Underrepresentation of pediatric operations in the relative value unit updating process. 62
33743987 2021
50
Pulse-Dye Laser Followed by Betamethasone-Calcipotriol and Fractional Ablative CO2-Laser-Assisted Delivery for Nail Psoriasis. 62
33795567 2021

Variations for Lacrimoauriculodentodigital Syndrome

ClinVar genetic disease variations for Lacrimoauriculodentodigital Syndrome:

5 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF10 NM_004465.2(FGF10):c.317G>T (p.Cys106Phe) SNV Pathogenic
7531 rs104893885 GRCh37: 5:44388468-44388468
GRCh38: 5:44388366-44388366
2 FGF10 NM_004465.2(FGF10):c.467T>G (p.Ile156Arg) SNV Pathogenic
7532 rs104893886 GRCh37: 5:44305257-44305257
GRCh38: 5:44305155-44305155
3 FGF10 NM_004465.2(FGF10):c.409A>T (p.Lys137Ter) SNV Pathogenic
7533 rs104893887 GRCh37: 5:44310549-44310549
GRCh38: 5:44310447-44310447
4 FGF10 NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) SNV Pathogenic
7534 rs104893888 GRCh37: 5:44388545-44388545
GRCh38: 5:44388443-44388443
5 FGFR3 NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) SNV Pathogenic
545425 rs1453271838 GRCh37: 4:1807823-1807823
GRCh38: 4:1806096-1806096
6 FGF10 NC_000005.9:g.44300489_44312646del DEL Pathogenic
1064421 GRCh37: 5:44300489-44312646
GRCh38:
7 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic
16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
8 FGFR2 NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr) SNV Pathogenic
13296 rs121918508 GRCh37: 10:123247549-123247549
GRCh38: 10:121488035-121488035
9 FGFR2 NM_000141.5(FGFR2):c.1947_1949del (p.Arg649_Asp650delinsSer) DEL Pathogenic
13297 rs879253720 GRCh37: 10:123247542-123247544
GRCh38: 10:121488028-121488030
10 FGFR2 NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr) SNV Pathogenic
13298 rs121918509 GRCh37: 10:123247609-123247609
GRCh38: 10:121488095-121488095
11 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic
478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
12 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic
13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
13 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic
13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
14 FGFR2 NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic
449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
15 FGFR2 NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val) SNV Pathogenic
810729 rs1847510893 GRCh37: 10:123260357-123260357
GRCh38: 10:121500843-121500843
16 FGFR3 NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) SNV Pathogenic
16354 rs121913112 GRCh37: 4:1807288-1807288
GRCh38: 4:1805561-1805561
17 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic
13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
18 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
19 FGFR3 NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic
16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
20 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic
16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
21 FGFR3 NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV Pathogenic
16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
22 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic
16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
23 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic
65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
24 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344_Gly345=) SNV Pathogenic
13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
25 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic
13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
26 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely Pathogenic
374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
27 FGFR2 NM_000141.5(FGFR2):c.1600G>A (p.Glu534Lys) SNV Likely Pathogenic
1710242 GRCh37: 10:123258081-123258081
GRCh38: 10:121498567-121498567
28 FGFR2 NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp) SNV Likely Pathogenic
547378 rs1554917471 GRCh37: 10:123260424-123260424
GRCh38: 10:121500910-121500910
29 FGFR2 NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val) SNV Likely Pathogenic
547379 rs1554907337 GRCh37: 10:123246904-123246904
GRCh38: 10:121487390-121487390
30 FGF10 NM_004465.2(FGF10):c.1A>G (p.Met1Val) SNV Likely Pathogenic
547371 rs1554040396 GRCh37: 5:44388784-44388784
GRCh38: 5:44388682-44388682
31 FGF10 NM_004465.2(FGF10):c.232del (p.Arg78fs) DEL Likely Pathogenic
547372 rs1554040364 GRCh37: 5:44388553-44388553
GRCh38: 5:44388451-44388451
32 FGF10 NM_004465.2(FGF10):c.550G>A (p.Gly184Arg) SNV Likely Pathogenic
547377 rs1554035469 GRCh37: 5:44305174-44305174
GRCh38: 5:44305072-44305072
33 FGF10 NM_004465.2(FGF10):c.256del (p.Thr86fs) DEL Likely Pathogenic
547373 rs1554040361 GRCh37: 5:44388529-44388529
GRCh38: 5:44388427-44388427
34 FGF10 NM_004465.2(FGF10):c.356del (p.Gly119fs) DEL Likely Pathogenic
547374 rs1554035763 GRCh37: 5:44310602-44310602
GRCh38: 5:44310500-44310500
35 FGF10 NM_004465.2(FGF10):c.401T>A (p.Met134Lys) SNV Likely Pathogenic
547375 rs1554035757 GRCh37: 5:44310557-44310557
GRCh38: 5:44310455-44310455
36 FGF10 NM_004465.2(FGF10):c.541A>C (p.Asn181His) SNV Uncertain Significance
547376 rs1332768200 GRCh37: 5:44305183-44305183
GRCh38: 5:44305081-44305081
37 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain Significance
546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
38 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain Significance
521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
39 FGF10 NM_004465.2(FGF10):c.624A>G (p.Ser208=) SNV Uncertain Significance
353721 rs886060653 GRCh37: 5:44305100-44305100
GRCh38: 5:44304998-44304998
40 FGF10 NM_004465.2(FGF10):c.116C>A (p.Ala39Asp) SNV Uncertain Significance
930542 rs201790067 GRCh37: 5:44388669-44388669
GRCh38: 5:44388567-44388567
41 FGFR2 NM_000141.5(FGFR2):c.*736dup DUP Uncertain Significance
298984 rs886046762 GRCh37: 10:123238634-123238635
GRCh38: 10:121479120-121479121
42 FGFR2 NM_000141.5(FGFR2):c.110-22TC[3] MICROSAT Uncertain Significance
299010 rs773932794 GRCh37: 10:123325233-123325234
GRCh38: 10:121565719-121565720
43 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain Significance
577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414
44 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain Significance
465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
45 FGFR2 NM_000141.5(FGFR2):c.-298_-297dup DUP Likely Benign
299020 rs41301549 GRCh37: 10:123357621-123357622
GRCh38: 10:121598107-121598108
46 FGFR2 NM_000141.5(FGFR2):c.*641_*644del DEL Likely Benign
298986 rs548465887 GRCh37: 10:123238727-123238730
GRCh38: 10:121479213-121479216
47 FGFR2 NM_000141.5(FGFR2):c.*1498_*1502del DEL Likely Benign
298974 rs566259479 GRCh37: 10:123237869-123237873
GRCh38: 10:121478355-121478359
48 FGFR2 NM_000141.5(FGFR2):c.*197del DEL Likely Benign
298992 rs748777325 GRCh37: 10:123239174-123239174
GRCh38: 10:121479660-121479660
49 FGF10 NM_004465.1(FGF10):c.*5A>T SNV Likely Benign
369476 rs111763965 GRCh37: 5:44305092-44305092
GRCh38: 5:44304990-44304990
50 FGFR3 NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) SNV Not Provided
585087 rs761325047 GRCh37: 4:1806615-1806615
GRCh38: 4:1804888-1804888

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

73
# 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

Expression for Lacrimoauriculodentodigital Syndrome

Search GEO for disease gene expression data for Lacrimoauriculodentodigital Syndrome.

Pathways for Lacrimoauriculodentodigital Syndrome

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

(show top 50) (show all 65)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
2
Show member pathways
13.95 SHH FGFR4 FGFR3 FGFR2 FGFR1 FGF9
3 13.95 ETV4 FGF1 FGF10 FGF17 FGF23 FGF3
4
Show member pathways
13.94 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
5
Show member pathways
13.88 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
6
Show member pathways
13.73 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
7
Show member pathways
13.71 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
8
Show member pathways
13.6 FGF1 FGF10 FGF17 FGF23 FGF4 FGF7
9
Show member pathways
13.58 ETV4 FGF1 FGF10 FGF17 FGF23 FGF3
10
Show member pathways
13.53 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
11
Show member pathways
13.5 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
12
Show member pathways
13.48 FGF1 FGF10 FGF17 FGF23 FGF4 FGF7
13
Show member pathways
13.31 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
14
Show member pathways
13.3 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
15
Show member pathways
13.28 FGF1 FGF10 FGF17 FGF23 FGF4 FGF7
16
Show member pathways
13.15 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
17 13.06 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
18
Show member pathways
12.99 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
19 12.97 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
20
Show member pathways
12.9 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
21
Show member pathways
12.89 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
22
Show member pathways
12.88 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
23
Show member pathways
12.8 FGF17 FGF23 FGF3 FGF4 FGF7 FGF8
24
Show member pathways
12.77 FGF1 FGF10 FGF17 FGF23 FGF4 FGF7
25 12.74 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
26
Show member pathways
12.72 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
27
Show member pathways
12.63 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
28
Show member pathways
12.57 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
29
Show member pathways
12.5 FGF1 FGF10 FGF17 FGF23 FGF4 FGF7
30
Show member pathways
12.47 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
31
Show member pathways
12.44 FGFR4 FGFR3 FGFR2 FGFR1
32 12.33 FGF1 FGFR1 FGFR2 FGFR3 FGFR4 SPRY2
33 12.29 FGFR4 FGFR3 FGFR2 FGFR1
34
Show member pathways
12.26 FGFR4 FGFR3 FGFR2 FGFR1
35
Show member pathways
12.22 FGFR4 FGFR3 FGFR2 FGFR1
36 12.22 SHH FGF7 FGF4 FGF3 FGF10
37 12.22 SHH FGFR2 FGFR1 FGF8 FGF10
38 12.16 FGFR4 FGFR3 FGFR2 FGFR1
39
Show member pathways
12.14 FGFR1 FGF9 FGF8 FGF4 FGF23 FGF17
40 12.08 SHH FGFR4 FGFR3 FGFR1 FGF8 FGF4
41 12.03 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
42 12.02 FGFR3 FGFR2 FGFR1 FGF8
43 11.99 GDF5 FGF8 FGF4 FGF10
44
Show member pathways
11.97 FGFR4 FGFR3 FGFR2 FGFR1
46 11.95 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
47
Show member pathways
11.92 FGFR3 FGF9 FGF8 FGF4 FGF23 FGF17
48 11.89 FGF1 FGF23 FGFR1 FGFR2 FGFR3 FGFR4
49 11.88 FGFR4 FGFR3 FGFR2 FGFR1
50 11.87 FGF1 FGF10 FGF17 FGF23 FGF4 FGF7

GO Terms for Lacrimoauriculodentodigital Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10 SHH GDF5 FGF9 FGF8 FGF7 FGF4
2 extracellular region GO:0005576 9.8 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4

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

(show top 50) (show all 78)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.6 ETV4 ETV5 FGF1 FGF10 FGF17 FGF23
2 positive regulation of gene expression GO:0010628 10.48 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.45 FGF1 FGF10 FGF23 FGF4 FGF8 FGFR2
4 cell-cell signaling GO:0007267 10.44 SHH GDF5 FGFR3 FGFR2 FGF9 FGF4
5 positive regulation of protein phosphorylation GO:0001934 10.43 FGF9 FGF8 FGF7 FGF4 FGF3 FGF23
6 angiogenesis GO:0001525 10.4 TBX4 SHH FGFR2 FGF9 FGF10 FGF1
7 protein autophosphorylation GO:0046777 10.36 FGFR4 FGFR3 FGFR2 FGFR1
8 regulation of cell migration GO:0030334 10.36 FGF9 FGF8 FGF7 FGF4 FGF3 FGF23
9 positive regulation of MAPK cascade GO:0043410 10.35 FGFR3 FGFR2 FGFR1 FGF10
10 peptidyl-tyrosine phosphorylation GO:0018108 10.34 FGFR4 FGFR3 FGFR2 FGFR1
11 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.34 FGFR1 FGFR2 FGFR3 FGFR4
12 MAPK cascade GO:0000165 10.28 FGFR3 FGFR1 FGF8 FGF23
13 positive regulation of epithelial cell proliferation GO:0050679 10.28 SHH FGFR2 FGF9 FGF7 FGF10 FGF1
14 positive regulation of kinase activity GO:0033674 10.27 FGFR1 FGFR2 FGFR3 FGFR4
15 stem cell proliferation GO:0072089 10.27 SHH FGF9 FGF8 FGF4 FGF10
16 chondrocyte differentiation GO:0002062 10.26 FGF9 FGFR3 GDF5 SCX
17 animal organ morphogenesis GO:0009887 10.26 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
18 positive regulation of stem cell proliferation GO:2000648 10.24 FGF9 FGF8 FGF4 FGF10
19 odontogenesis of dentin-containing tooth GO:0042475 10.23 SHH FGF4 FGF10
20 ERK1 and ERK2 cascade GO:0070371 10.22 SPRY2 FGF23 FGF10
21 hair follicle morphogenesis GO:0031069 10.22 SHH FGFR2 FGF7 FGF10
22 cell fate commitment GO:0045165 10.21 SPRY2 SHH FGFR2 FGF8
23 embryonic hindlimb morphogenesis GO:0035116 10.21 TBX4 SHH FGF8 FGF4
24 skeletal system morphogenesis GO:0048705 10.2 FGFR1 FGFR2 TBX4
25 embryonic skeletal system development GO:0048706 10.2 FGF9 SCX SHH
26 lung development GO:0030324 10.2 TBX4 SPRY2 SHH FGFR2 FGF9 FGF8
27 metanephros development GO:0001656 10.19 SHH FGF8 FGF10
28 inner ear morphogenesis GO:0042472 10.19 SPRY2 FGFR2 FGF9 FGF8 FGF10
29 embryonic pattern specification GO:0009880 10.18 FGF10 FGFR2 SHH
30 thyroid gland development GO:0030878 10.18 FGF10 FGF8 SHH
31 embryonic limb morphogenesis GO:0030326 10.15 TBX4 SHH GDF5 FGF9 FGF4
32 embryonic digestive tract morphogenesis GO:0048557 10.14 SHH FGFR2 FGF10
33 limb bud formation GO:0060174 10.13 FGF10 FGFR2 SHH
34 epithelial cell proliferation GO:0050673 10.13 FGF1 FGF10 FGF7 FGF9 SHH
35 positive regulation of cell population proliferation GO:0008284 10.13 SHH SCX FGFR4 FGFR3 FGFR2 FGFR1
36 positive regulation of Wnt signaling pathway GO:0030177 10.12 SHH FGFR2 FGF10
37 odontogenesis GO:0042476 10.12 SHH FGFR2 FGF8
38 organ induction GO:0001759 10.12 FGF8 FGF10 FGF1
39 positive regulation of phospholipase activity GO:0010518 10.11 FGFR1 FGFR2 FGFR3
40 lung-associated mesenchyme development GO:0060484 10.11 FGF9 FGFR2 SHH
41 branching involved in salivary gland morphogenesis GO:0060445 10.11 SHH FGFR2 FGF8 FGF7 FGF10
42 cell population proliferation GO:0008283 10.1 SHH FGF9 FGF8 FGF4 FGF10
43 branching morphogenesis of an epithelial tube GO:0048754 10.1 SPRY2 SHH FGF10
44 bud elongation involved in lung branching GO:0060449 10.1 SPRY2 FGFR2 FGF10
45 otic vesicle formation GO:0030916 10.1 FGFR2 FGF8 FGF10
46 mesenchymal cell proliferation GO:0010463 10.1 FGF4 FGF7 FGF9 SHH
47 positive regulation of mesenchymal cell proliferation GO:0002053 10.09 SHH FGFR2 FGF9
48 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 10.08 FGF10 FGFR2 SHH
49 organ growth GO:0035265 10.07 FGF10 FGF8 FGFR2
50 limb morphogenesis GO:0035108 10.07 TBX4 FGF8 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 10.06 FGF1 FGF10 FGF4 FGF7 FGF9 FGFR1
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 10.03 FGFR4 FGFR3 FGFR2 FGFR1
3 protein tyrosine kinase activity GO:0004713 10 FGFR4 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor binding GO:0017134 9.97 FGFR1 FGFR2 FGFR3 FGFR4
5 growth factor activity GO:0008083 9.96 FGF1 FGF10 FGF17 FGF23 FGF3 FGF4
6 type 2 fibroblast growth factor receptor binding GO:0005111 9.92 FGF8 FGF7 FGF17 FGF10
7 type 1 fibroblast growth factor receptor binding GO:0005105 9.88 FGF8 FGF23 FGF17
8 fibroblast growth factor receptor activity GO:0005007 9.86 FGFR4 FGFR3 FGFR2 FGFR1
9 fibroblast growth factor receptor binding GO:0005104 9.58 FGF9 FGF8 FGF7 FGF4 FGF3 FGF23

Sources for Lacrimoauriculodentodigital Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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