LADD
MCID: LCR014
MIFTS: 58

Lacrimoauriculodentodigital Syndrome (LADD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Lacrimoauriculodentodigital Syndrome

MalaCards integrated aliases for Lacrimoauriculodentodigital Syndrome:

Name: Lacrimoauriculodentodigital Syndrome 57 12 43 58 72 70
Ladd Syndrome 57 12 20 43 58 72 13 15
Levy-Hollister Syndrome 57 12 43 58 72 29 6
Lacrimo-Auriculo-Dento-Digital Syndrome 20 43 72 36
Congenital Duodenal Obstruction Due to Malrotation of Intestine 70
Lacrimoauriculodento-Digital Syndrome 20
Lacrimoauriculoradiodental Syndrome 58
Levy Hollister Syndrome 20
Syndrome, Ladd 39
Lard Syndrome 58
Ladds 72
Ladd 57

Characteristics:

Orphanet epidemiological data:

58
lacrimoauriculodentodigital syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
lacrimoauriculodentodigital syndrome:
Inheritance autosomal dominant inheritance


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 : 43 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 dacryocystocele and synostosis. An important gene associated with Lacrimoauriculodentodigital Syndrome is FGF10 (Fibroblast Growth Factor 10), and among its related pathways/superpathways are MAPK signaling pathway and Endocytosis. Affiliated tissues include eye, kidney and uterus, and related phenotypes are carious teeth and hypodontia

Disease Ontology : 12 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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2363 Definition Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss ; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.

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 20-May-2021)

KEGG : 36 Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterizd by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness, dental abnormalities with small teeth, and radial ray abnormalities in hands.

UniProtKB/Swiss-Prot : 72 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.

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 141)
# Related Disease Score Top Affiliating Genes
1 dacryocystocele 31.0 FGFR3 FGFR2 FGF10
2 synostosis 30.4 GDF5 FGFR3 FGFR2 FGFR1 FGF8 BHLHA9
3 aplasia of lacrimal and salivary glands 29.9 FGFR2 FGF7 FGF3 FGF17 FGF10
4 diaphragmatic hernia, congenital 29.9 TBX4 FGF7 FGF10
5 bone disease 29.7 GDF5 FGFR3 FGFR2 FGFR1 FGF23
6 thanatophoric dysplasia, type i 29.5 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
7 sensorineural hearing loss 29.4 TBX4 FGFR3 FGFR1 FGF8 FGF17
8 cerebral amyloid angiopathy, app-related 11.0
9 volvulus of midgut 10.4
10 hemifacial hyperplasia 10.4 FGFR3 FGFR2
11 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
12 telecanthus 10.3
13 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.3
14 sjogren syndrome 10.3
15 neu-laxova syndrome 2 10.3
16 xerophthalmia 10.3
17 dental caries 10.3
18 orofaciodigital syndrome 10.3
19 early-onset glaucoma 10.3
20 hartsfield syndrome 10.3 FGFR1 FGF8
21 chronic inflammation of lacrimal passage 10.3 FGFR3 FGFR2 FGF10
22 clear cell acanthoma 10.3 FGFR2 FGF7 FGF10
23 gallbladder squamous cell carcinoma 10.3 FGF4 FGF3
24 fgfr craniosynostosis syndromes 10.3 FGFR3 FGFR2 FGFR1
25 plagiocephaly 10.3 FGFR3 FGFR2 FGFR1
26 syndromic craniosynostosis 10.3 FGFR3 FGFR2 FGFR1
27 hypertelorism, microtia, facial clefting syndrome 10.3 FGFR3 FGFR2 FGFR1
28 radioulnar synostosis 10.3 FGFR3 FGFR2 FGFR1
29 antley-bixler syndrome 10.3 FGFR3 FGFR2 FGFR1
30 frontal convexity meningioma 10.3 FGFR4 FGF10
31 pleuropulmonary blastoma 10.3 FGFR2 FGF9 FGF10
32 luteoma 10.3 FGFR3 FGFR2
33 exudative vitreoretinopathy 7 10.3 TBX4 FGF10
34 synovial chondromatosis 10.3 FGFR3 FGFR1 FGF9
35 osteochondroma 10.3 FGFR3 FGFR1 FGF9
36 normosmic congenital hypogonadotropic hypogonadism 10.3 FGFR1 FGF8 FGF17
37 saethre-chotzen syndrome 10.3 FGFR3 FGFR2 FGFR1
38 synostoses, tarsal, carpal, and digital 10.3 GDF5 FGF9
39 spinocerebellar ataxia, x-linked 5 10.3 FGF17 FGF11
40 acanthoma 10.2 FGFR3 FGFR2 FGF7 FGF10
41 ankylosis 10.2 GDF5 FGFR2 FGFR1
42 hypospadias 10.2 FGFR2 FGF8 FGF10
43 achondroplasia 10.2 FGFR3 FGFR2 FGFR1 FGF3
44 oncogenic osteomalacia 10.2 FGF7 FGF23
45 physical disorder 10.2 FGFR2 FGF8 FGF10
46 split hand-foot malformation 10.2 FGFR2 FGFR1 BHLHA9
47 ear malformation 10.2
48 heterotaxy 10.2
49 chromosomal duplication syndrome 10.2 FGFR2 FGF8 BHLHA9
50 schimmelpenning-feuerstein-mims syndrome 10.2 FGFR3 FGFR1 FGF23

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 31 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 31 Frequent (79-30%) HP:0000670
2 hypodontia 58 31 Occasional (29-5%) HP:0000668
3 hypoplasia of the radius 58 31 Occasional (29-5%) HP:0002984
4 cupped ear 58 31 Occasional (29-5%) HP:0000378
5 mixed hearing impairment 58 31 Occasional (29-5%) HP:0000410
6 xerostomia 58 31 Frequent (79-30%) HP:0000217
7 absent lacrimal punctum 58 31 Occasional (29-5%) HP:0001092
8 hypoplasia of dental enamel 58 31 Occasional (29-5%) HP:0006297
9 recurrent corneal erosions 58 31 Occasional (29-5%) HP:0000495
10 lacrimal gland aplasia 58 31 Occasional (29-5%) HP:0007656
11 hypoplasia of the lacrimal punctum 58 31 Occasional (29-5%) HP:0007892
12 limbal stem cell deficiency 58 31 Occasional (29-5%) HP:0032107
13 seizures 58 Very rare (<4-1%)
14 scoliosis 58 Very rare (<4-1%)
15 ptosis 58 Occasional (29-5%)
16 dysphagia 58 Very rare (<4-1%)
17 global developmental delay 58 Very rare (<4-1%)
18 hypertelorism 31 HP:0000316
19 arthritis 58 Very rare (<4-1%)
20 abnormality of the dentition 58 Very frequent (99-80%)
21 abnormal facial shape 58 Occasional (29-5%)
22 microtia 58 Very rare (<4-1%)
23 sensorineural hearing impairment 58 Occasional (29-5%)
24 microdontia 58 Occasional (29-5%)
25 cryptorchidism 58 Very rare (<4-1%)
26 micrognathia 58 Very rare (<4-1%)
27 low-set ears 58 Occasional (29-5%)
28 downslanted palpebral fissures 31 HP:0000494
29 conductive hearing impairment 58 Occasional (29-5%)
30 clinodactyly of the 5th finger 31 HP:0004209
31 anosmia 58 Very rare (<4-1%)
32 choanal atresia 58 Very rare (<4-1%)
33 patent ductus arteriosus 58 Very rare (<4-1%)
34 vesicoureteral reflux 58 Very rare (<4-1%)
35 hydronephrosis 58 Very rare (<4-1%)
36 abnormality of the eye 58 Frequent (79-30%)
37 abnormality of dental enamel 58 Frequent (79-30%)
38 renal hypoplasia 58 Very rare (<4-1%)
39 telecanthus 31 HP:0000506
40 corneal neovascularization 58 Occasional (29-5%)
41 broad forehead 31 HP:0000337
42 short thumb 58 Occasional (29-5%)
43 nasolacrimal duct obstruction 31 HP:0000579
44 finger syndactyly 58 Occasional (29-5%)
45 hyperextensible skin 31 HP:0000974
46 toe syndactyly 58 Occasional (29-5%)
47 partial duplication of thumb phalanx 31 HP:0009944
48 abnormal lacrimal duct morphology 58 Frequent (79-30%)
49 hypoplasia of the ulna 31 HP:0003022
50 keratoconjunctivitis sicca 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

MGI Mouse Phenotypes related to Lacrimoauriculodentodigital Syndrome:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 FGF10 FGF11 FGF17 FGF22 FGF3 FGF4
2 growth/size/body region MP:0005378 10.38 FGF10 FGF23 FGF3 FGF4 FGF7 FGF8
3 homeostasis/metabolism MP:0005376 10.31 FGF1 FGF10 FGF22 FGF23 FGF7 FGF8
4 hematopoietic system MP:0005397 10.29 FGF1 FGF10 FGF11 FGF23 FGF3 FGF7
5 limbs/digits/tail MP:0005371 10.27 BHLHA9 FGF10 FGF23 FGF3 FGF4 FGF8
6 embryo MP:0005380 10.25 FGF10 FGF3 FGF4 FGF8 FGF9 FGFR1
7 mortality/aging MP:0010768 10.25 FGF10 FGF23 FGF3 FGF4 FGF8 FGF9
8 nervous system MP:0003631 10.18 BHLHA9 FGF1 FGF10 FGF17 FGF22 FGF3
9 normal MP:0002873 10.15 ASCL3 FGF1 FGF10 FGF3 FGF4 FGF8
10 hearing/vestibular/ear MP:0005377 10.13 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
11 integument MP:0010771 10.13 FGF10 FGF11 FGF22 FGF23 FGF7 FGF9
12 digestive/alimentary MP:0005381 10.1 FGF10 FGF23 FGF8 FGF9 FGFR1 FGFR2
13 reproductive system MP:0005389 10.03 FGF10 FGF23 FGF3 FGF4 FGF7 FGF8
14 renal/urinary system MP:0005367 9.92 FGF10 FGF23 FGF7 FGF8 FGF9 FGFR1
15 skeleton MP:0005390 9.8 FGF10 FGF23 FGF3 FGF4 FGF7 FGF8
16 respiratory system MP:0005388 9.76 FGF10 FGF23 FGF4 FGF8 FGF9 FGFR2
17 vision/eye MP:0005391 9.28 FGF10 FGF3 FGF7 FGF8 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 29 FGF10 FGFR2 FGFR3

Anatomical Context for Lacrimoauriculodentodigital Syndrome

MalaCards organs/tissues related to Lacrimoauriculodentodigital Syndrome:

40
Eye, Kidney, Uterus, Bone, Salivary Gland, Heart, Lung

Publications for Lacrimoauriculodentodigital Syndrome

Articles related to Lacrimoauriculodentodigital Syndrome:

(show top 50) (show all 52)
# 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. 57 6 61
28483234 2017
2
LADD syndrome is caused by FGF10 mutations. 61 57 6
16630169 2006
3
Mutations in different components of FGF signaling in LADD syndrome. 57 6 61
16501574 2006
4
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 6 61
18056630 2007
5
Limbal stem cell deficiency associated with LADD syndrome. 61 57
15883293 2005
6
LADD syndrome in five members of a three-generation family and prenatal diagnosis. 61 57
8031542 1994
7
Lacrimo-auriculo-dento-digital (LADD) syndrome. 61 57
3678282 1987
8
LADD syndrome: report of new cases and review of the clinical spectrum. 57 61
3709571 1986
9
Phenotypic variation in LADD syndrome. 61 57
4078868 1985
10
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 6
16912704 2006
11
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. 6
15654336 2005
12
Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. 57
1415342 1992
13
The lacrimo-auriculo-dento-digital syndrome. 57
865946 1977
14
The lacrimo-auriculo-dento-digital syndrome. 57
4725147 1973
15
Mesoectodermal dysplasia. A new combination of anomalies. 57
6066655 1967
16
Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature. 61
32715658 2020
17
An Essential Requirement for Fgf10 in Pinna Extension Sheds Light on Auricle Defects in LADD Syndrome. 61
33363172 2020
18
Orodental Findings in Patients with Lacrimo-Auriculo-Dento-Digital Syndrome. 61
30992102 2019
19
A requirement for Fgfr2 in middle ear development. 61
30253032 2019
20
Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability. 61
28043400 2017
21
LADD syndrome with glaucoma is caused by a novel gene. 61
28400699 2017
22
FGF and EDA pathways control initiation and branching of distinct subsets of developing nasal glands. 61
27590203 2016
23
A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth. 61
27803819 2016
24
Fgf10 is required for specification of non-sensory regions of the cochlear epithelium. 61
25624266 2015
25
[Clinical diagnosis of familial Levy-Hollister syndrome]. 61
23562527 2014
26
Lacrimal-auricular-dental-digital (LADD) syndrome with diffuse ophthalmoplegia--a new finding. 61
22784266 2012
27
Lacrimo-auriculo-dento-digital syndrome. 61
21911959 2011
28
Bimaxillary osteotomy in a young, edentulous patient with LADD syndrome. 61
20561472 2010
29
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. 61
19863897 2009
30
[The lacrimo-auriculo-dento-digital syndrome (LADD): case report and literature review]. 61
20027417 2009
31
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. 61
19215249 2009
32
Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. 61
18801668 2008
33
Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. 61
17682060 2007
34
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). 61
17213838 2007
35
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. 61
16460812 2006
36
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. 61
15829693 2005
37
Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. 61
15352854 2004
38
Lacrimo-auriculo-dento-digital syndrome. Case report, review of the literature, and clinical spectrum. 61
15378197 2004
39
[LADD syndrome with QT prolongation]. 61
15290844 2004
40
Lacrimo-auriculo-dento-digital syndrome with QT prolongation. 61
14713185 2003
41
Inner ear dysplasia in sporadic lacrimo-auriculo-dento-digital syndrome. A case report and review of the literature. 61
12417779 2002
42
The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. 61
10348439 1999
43
Salivary gland disorders and heredity. 61
9028463 1997
44
Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome. 61
9006512 1997
45
Lacrimo-auricolo-dento-digital syndrome mimicking primary juvenile Sjögren's syndrome. 61
7863283 1995
46
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. 61
8411061 1993
47
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. 61
8110420 1993
48
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. 61
2225531 1990
49
"New syndromes," Part II: "European" syndromes. 61
3144988 1988
50
LADD syndrome: a distinct entity? 61
3582415 1987

Variations for Lacrimoauriculodentodigital Syndrome

ClinVar genetic disease variations for Lacrimoauriculodentodigital Syndrome:

6 (show all 48)
# 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 FGFR2 NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr) SNV Pathogenic 13296 rs121918508 GRCh37: 10:123247549-123247549
GRCh38: 10:121488035-121488035
5 FGFR2 NM_000141.5(FGFR2):c.1947_1949del (p.Arg649_Asp650delinsSer) Deletion Pathogenic 13297 rs879253720 GRCh37: 10:123247542-123247544
GRCh38: 10:121488028-121488030
6 FGFR2 NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr) SNV Pathogenic 13298 rs121918509 GRCh37: 10:123247609-123247609
GRCh38: 10:121488095-121488095
7 FGFR3 NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) SNV Pathogenic 16354 rs121913112 GRCh37: 4:1807288-1807288
GRCh38: 4:1805561-1805561
8 FGF10 NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) SNV Pathogenic 7534 rs104893888 GRCh37: 5:44388545-44388545
GRCh38: 5:44388443-44388443
9 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
10 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
11 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
12 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
13 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
14 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
15 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
16 FGFR3 NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) SNV Pathogenic 545425 rs1453271838 GRCh37: 4:1807823-1807823
GRCh38: 4:1806096-1806096
17 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic 16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
18 FGFR2 NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val) SNV Pathogenic 810729 GRCh37: 10:123260357-123260357
GRCh38: 10:121500843-121500843
19 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
20 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
21 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
22 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
23 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
24 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
25 FGF10 NM_004465.2(FGF10):c.1A>G (p.Met1Val) SNV Likely pathogenic 547371 rs1554040396 GRCh37: 5:44388784-44388784
GRCh38: 5:44388682-44388682
26 FGF10 NM_004465.2(FGF10):c.232del (p.Arg78fs) Deletion Likely pathogenic 547372 rs1554040364 GRCh37: 5:44388553-44388553
GRCh38: 5:44388451-44388451
27 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
28 FGF10 NM_004465.2(FGF10):c.550G>A (p.Gly184Arg) SNV Likely pathogenic 547377 rs1554035469 GRCh37: 5:44305174-44305174
GRCh38: 5:44305072-44305072
29 FGFR2 NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp) SNV Likely pathogenic 547378 rs1554917471 GRCh37: 10:123260424-123260424
GRCh38: 10:121500910-121500910
30 FGFR2 NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val) SNV Likely pathogenic 547379 rs1554907337 GRCh37: 10:123246904-123246904
GRCh38: 10:121487390-121487390
31 FGF10 NM_004465.2(FGF10):c.256del (p.Thr86fs) Deletion Likely pathogenic 547373 rs1554040361 GRCh37: 5:44388529-44388529
GRCh38: 5:44388427-44388427
32 FGF10 NM_004465.2(FGF10):c.356del (p.Gly119fs) Deletion Likely pathogenic 547374 rs1554035763 GRCh37: 5:44310602-44310602
GRCh38: 5:44310500-44310500
33 FGF10 NM_004465.2(FGF10):c.401T>A (p.Met134Lys) SNV Likely pathogenic 547375 rs1554035757 GRCh37: 5:44310557-44310557
GRCh38: 5:44310455-44310455
34 FGF10 NM_004465.2(FGF10):c.541A>C (p.Asn181His) SNV Uncertain significance 547376 rs1332768200 GRCh37: 5:44305183-44305183
GRCh38: 5:44305081-44305081
35 FGFR2 NM_022970.3(FGFR2):c.110-22TC[3] Microsatellite Uncertain significance 299010 rs773932794 GRCh37: 10:123325233-123325234
GRCh38: 10:121565719-121565720
36 FGFR2 NM_000141.5(FGFR2):c.*736dup Duplication Uncertain significance 298984 rs886046762 GRCh37: 10:123238634-123238635
GRCh38: 10:121479120-121479121
37 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414
38 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain significance 546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
39 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain significance 465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
40 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain significance 521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
41 FGF10 NM_004465.2(FGF10):c.116C>A (p.Ala39Asp) SNV Uncertain significance 930542 GRCh37: 5:44388669-44388669
GRCh38: 5:44388567-44388567
42 FGF10 NM_004465.2(FGF10):c.624A>G (p.Ser208=) SNV Uncertain significance 353721 rs886060653 GRCh37: 5:44305100-44305100
GRCh38: 5:44304998-44304998
43 FGF10 NM_004465.1(FGF10):c.*5A>T SNV Likely benign 369476 rs111763965 GRCh37: 5:44305092-44305092
GRCh38: 5:44304990-44304990
44 FGFR2 NM_000141.5(FGFR2):c.*1498_*1502del Deletion Likely benign 298974 rs566259479 GRCh37: 10:123237869-123237873
GRCh38: 10:121478355-121478359
45 FGFR2 NM_000141.5(FGFR2):c.*197del Deletion Likely benign 298992 rs748777325 GRCh37: 10:123239174-123239174
GRCh38: 10:121479660-121479660
46 FGFR2 NM_000141.5(FGFR2):c.-298_-297dup Duplication Likely benign 299020 rs41301549 GRCh37: 10:123357621-123357622
GRCh38: 10:121598107-121598108
47 FGFR2 NM_000141.5(FGFR2):c.*641_*644del Deletion Likely benign 298986 rs548465887 GRCh37: 10:123238727-123238730
GRCh38: 10:121479213-121479216
48 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:

72
# 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 KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Endocytosis hsa04144
3 Regulation of actin cytoskeleton hsa04810

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

(show top 50) (show all 57)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.25 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
2
Show member pathways
14.13 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
3
Show member pathways
14.01 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
4
Show member pathways
14 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
5
Show member pathways
13.92 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF9
6
Show member pathways
13.89 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
7
Show member pathways
13.77 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
8
Show member pathways
13.77 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF9
9
Show member pathways
13.72 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
10
Show member pathways
13.69 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
11
Show member pathways
13.65 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
12
Show member pathways
13.61 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
13
Show member pathways
13.57 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
14
Show member pathways
13.55 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
15
Show member pathways
13.53 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
16
Show member pathways
13.35 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
17
Show member pathways
13.31 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
18
Show member pathways
13.28 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
19
Show member pathways
13.26 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
20 13.13 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
21
Show member pathways
13.08 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
22
Show member pathways
13.07 FGFR2 FGFR1 FGF9 FGF8 FGF7 FGF4
23 13.01 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
24
Show member pathways
13 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
25
Show member pathways
12.99 FGFR2 FGFR1 FGF9 FGF8 FGF7 FGF4
26
Show member pathways
12.95 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
27
Show member pathways
12.9 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
28
Show member pathways
12.81 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
29
Show member pathways
12.75 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
30
Show member pathways
12.73 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
31
Show member pathways
12.65 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
32
Show member pathways
12.55 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
33
Show member pathways
12.53 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
34
Show member pathways
12.49 FGFR4 FGFR3 FGFR2 FGFR1
35 12.48 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
36
Show member pathways
12.44 FGFR4 FGFR3 FGFR2 FGFR1
37
Show member pathways
12.41 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
38 12.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
39
Show member pathways
12.36 FGFR4 FGFR3 FGFR2 FGFR1
40 12.27 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
41 12.22 FGF7 FGF4 FGF3 FGF11 FGF10
42
Show member pathways
12.21 FGFR4 FGFR3 FGFR2 FGFR1
43 12.17 FGFR4 FGFR3 FGFR2 FGFR1
44
Show member pathways
12.17 FGFR1 FGF9 FGF8 FGF4 FGF23 FGF17
45 12.05 FGFR4 FGFR3 FGFR1 FGF8 FGF4 FGF10
46 12.04 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
47 12.02 FGFR3 FGFR2 FGFR1 FGF8
48 11.99 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
49 11.98 GDF5 FGF8 FGF4 FGF10
50
Show member pathways
11.96 FGFR3 FGF9 FGF8 FGF4 FGF23 FGF17

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 cytoplasm GO:0005737 10.06 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
2 extracellular space GO:0005615 9.7 GDF5 FGF9 FGF8 FGF7 FGF4 FGF3
3 receptor complex GO:0043235 9.56 FGFR4 FGFR3 FGFR2 FGFR1
4 extracellular region GO:0005576 9.53 GDF5 FGFR4 FGFR3 FGFR2 FGFR1 FGF9

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.33 FGF9 FGF8 FGF7 FGF4 FGF3 FGF17
2 multicellular organism development GO:0007275 10.31 TBX4 SCX FGFR4 FGFR3 FGFR2 FGFR1
3 cell differentiation GO:0030154 10.26 SCX FGF9 FGF8 FGF7 FGF4 FGF3
4 positive regulation of gene expression GO:0010628 10.21 SCX FGFR4 FGF9 FGF8 FGF7 FGF4
5 cell-cell signaling GO:0007267 10.13 GDF5 FGFR3 FGFR2 FGF9 FGF4 FGF3
6 positive regulation of protein phosphorylation GO:0001934 10.1 FGF9 FGF8 FGF7 FGF4 FGF3 FGF23
7 positive regulation of protein kinase B signaling GO:0051897 10.1 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.09 FGFR4 FGFR3 FGFR2 FGF8 FGF4 FGF23
9 regulation of cell migration GO:0030334 10.07 FGF9 FGF8 FGF7 FGF4 FGF3 FGF23
10 animal organ morphogenesis GO:0009887 10.06 FGFR2 FGF9 FGF8 FGF7 FGF4 FGF3
11 lung development GO:0030324 10.05 TBX4 FGFR2 FGF9 FGF8 FGF7 FGF10
12 angiogenesis GO:0001525 10.01 TBX4 FGFR2 FGF10 FGF1
13 positive regulation of cell division GO:0051781 10 FGFR2 FGF9 FGF8 FGF7 FGF4 FGF3
14 fibroblast growth factor receptor signaling pathway GO:0008543 10 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
15 protein autophosphorylation GO:0046777 9.99 FGFR4 FGFR3 FGFR2 FGFR1
16 positive regulation of MAPK cascade GO:0043410 9.97 FGFR3 FGFR2 FGFR1 FGF9 FGF10
17 peptidyl-tyrosine phosphorylation GO:0018108 9.96 FGFR4 FGFR3 FGFR2 FGFR1
18 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.96 FGFR4 FGFR3 FGFR2 FGFR1
19 positive regulation of epithelial cell proliferation GO:0050679 9.96 FGFR2 FGF9 FGF7 FGF10 FGF1
20 wound healing GO:0042060 9.9 FGFR2 FGF10 FGF1
21 positive regulation of kinase activity GO:0033674 9.9 FGFR4 FGFR3 FGFR2 FGFR1
22 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.89 FGF8 FGF7 FGF10
23 inner ear morphogenesis GO:0042472 9.87 FGFR2 FGF8 FGF10
24 embryonic limb morphogenesis GO:0030326 9.86 TBX4 GDF5 FGF4
25 positive chemotaxis GO:0050918 9.85 FGF8 FGF7 FGF10
26 skeletal system morphogenesis GO:0048705 9.84 TBX4 FGFR2 FGFR1
27 branching involved in salivary gland morphogenesis GO:0060445 9.84 FGFR2 FGF8 FGF7 FGF10
28 embryonic hindlimb morphogenesis GO:0035116 9.82 TBX4 FGF8 FGF4
29 hair follicle morphogenesis GO:0031069 9.81 FGFR2 FGF7 FGF10
30 MAPK cascade GO:0000165 9.8 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF8
31 limb morphogenesis GO:0035108 9.78 TBX4 FGF8 FGF10
32 organ induction GO:0001759 9.77 FGF8 FGF10 FGF1
33 positive regulation of phospholipase activity GO:0010518 9.76 FGFR3 FGFR2 FGFR1
34 otic vesicle formation GO:0030916 9.74 FGFR2 FGF8 FGF10
35 lung morphogenesis GO:0060425 9.73 FGF8 FGF10
36 embryonic digestive tract morphogenesis GO:0048557 9.72 FGFR2 FGF10
37 positive regulation of keratinocyte proliferation GO:0010838 9.72 FGF7 FGF10
38 mesonephros development GO:0001823 9.71 FGF8 FGF10
39 positive regulation of keratinocyte migration GO:0051549 9.71 FGF7 FGF10
40 limb bud formation GO:0060174 9.71 FGFR2 FGF10
41 organ growth GO:0035265 9.71 FGFR2 FGF10
42 endochondral bone growth GO:0003416 9.7 FGFR3 FGFR2
43 bud elongation involved in lung branching GO:0060449 9.7 FGFR2 FGF10
44 phosphate ion homeostasis GO:0055062 9.7 FGFR4 FGF23
45 epidermis morphogenesis GO:0048730 9.7 FGFR2 FGF10
46 lacrimal gland development GO:0032808 9.69 FGFR2 FGF10
47 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.68 FGFR2 FGF10
48 chondroblast differentiation GO:0060591 9.68 GDF5 FGF4
49 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.68 FGFR2 FGF7
50 mesenchymal cell proliferation GO:0010463 9.67 FGF7 FGF4

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.76 FGFR4 FGFR3 FGFR2 FGFR1
2 heparin binding GO:0008201 9.76 FGFR4 FGFR2 FGFR1 FGF9 FGF7 FGF4
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.73 FGFR4 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor binding GO:0017134 9.67 FGFR4 FGFR3 FGFR2 FGFR1
5 chemoattractant activity GO:0042056 9.65 FGF8 FGF7 FGF10
6 fibroblast growth factor receptor binding GO:0005104 9.65 FGF9 FGF8 FGF7 FGF4 FGF3 FGF23
7 type 2 fibroblast growth factor receptor binding GO:0005111 9.62 FGF8 FGF7 FGF17 FGF10
8 type 1 fibroblast growth factor receptor binding GO:0005105 9.58 FGF8 FGF23 FGF17
9 fibroblast growth factor-activated receptor activity GO:0005007 9.56 FGFR4 FGFR3 FGFR2 FGFR1
10 growth factor activity GO:0008083 9.4 GDF5 FGF9 FGF8 FGF7 FGF4 FGF3

Sources for Lacrimoauriculodentodigital Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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