Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
LADDS
MCID: LCR014
MIFTS: 59

Lacrimoauriculodentodigital Syndrome (LADDS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Lacrimoauriculodentodigital Syndrome

About this section

MalaCards integrated aliases for Lacrimoauriculodentodigital Syndrome:

Name: Lacrimoauriculodentodigital Syndrome 57 12 25 59 75 73
Ladd Syndrome 57 12 53 25 59 75 13 15
Levy-Hollister Syndrome 57 12 25 59 75 29 6
Lacrimo-Auriculo-Dento-Digital Syndrome 53 25 75 37
Congenital Duodenal Obstruction Due to Malrotation of Intestine 73
Lacrimoauriculodento-Digital Syndrome 53
Lacrimoauriculoradiodental Syndrome 59
Levy Hollister Syndrome 53
Lard Syndrome 59
Ladds 75
Ladd 57

Characteristics:

Orphanet epidemiological data:

59
lacrimoauriculodentodigital syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
lacrimoauriculodentodigital syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Smell/Taste diseases Bone diseases Skin diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Sources

Summaries for Lacrimoauriculodentodigital Syndrome

About this section
UniProtKB/Swiss-Prot : 75 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 : Lacrimoauriculodentodigital Syndrome, also known as ladd syndrome, is related to cerebral amyloid angiopathy, app-related and dacryocystocele. 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 salivary gland, eye and kidney, and related phenotypes are hypertelorism and carious teeth

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).

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2363Disease definitionLacrimoauriculodentodigital (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.Visit the Orphanet disease page for more resources.

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)

Sources

Related Diseases for Lacrimoauriculodentodigital Syndrome

About this section

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, app-related 11.1
2 dacryocystocele 10.6
3 early-onset glaucoma 10.6
4 heterotaxy 10.3
5 heterotaxy, visceral, 1, x-linked 10.3
6 acanthoma 10.3 FGFR2 FGF10
7 hemifacial hyperplasia 10.3 FGFR3 FGFR2
8 duodenal obstruction 10.2
9 intestinal volvulus 10.2
10 deafness, autosomal recessive 51 10.2 FGFR3 FGF8
11 luteoma 10.2 FGFR3 FGFR2
12 synostoses, tarsal, carpal, and digital 10.2 GDF5 FGF9
13 beare-stevenson cutis gyrata syndrome 10.1 FGFR3 FGFR2
14 ileocolitis 10.1
15 megacolon 10.1
16 superior mesenteric artery syndrome 10.1
17 ankyloblepharon-ectodermal defects-cleft lip/palate 10.1 TP63 SATB2 FGFR2
18 plagiocephaly 10.1 FGFR3 FGFR2 FGFR1
19 osteoglophonic dysplasia 10.1 FGFR3 FGFR2 FGFR1
20 jackson-weiss syndrome 10.1 FGFR3 FGFR2 FGFR1
21 radioulnar synostosis 10.1 FGFR3 FGFR2 FGFR1
22 hypospadias 10.1 FGFR2 FGF8 FGF10
23 hartsfield syndrome 10.1 FGFR1 FGF8
24 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1 TP63 SATB2
25 clear cell acanthoma 10.1 FGFR2 FGF7 FGF10
26 synovial chondromatosis 10.1 FGFR3 FGFR1 FGF9
27 crouzon syndrome 10.1 FGFR3 FGFR2 FGFR1
28 hypervitaminosis d 10.1 GALNT3 FGF23
29 saethre-chotzen syndrome 10.1 FGFR3 FGFR2 FGFR1
30 osteochondroma 10.1 FGFR3 FGFR1 FGF9
31 chromosome 2q35 duplication syndrome 10.0 TP63 SATB2 FGFR3 FGFR2
32 hypochondroplasia 10.0 FGF3 FGFR1 FGFR2 FGFR3
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
34 cleft lip 10.0
35 cleft lip/palate 10.0
36 achondroplasia 10.0 FGFR3 FGFR2 FGFR1 FGF3
37 thrombocytopenia-absent radius syndrome 10.0 SATB2 FGFR1 FGF8
38 choanal atresia, posterior 10.0 SATB2 FGFR2
39 synostosis 10.0 GDF5 FGFR3 FGFR2 FGFR1
40 bone development disease 10.0 GDF5 FGFR3 FGFR2 FGFR1
41 thanatophoric dysplasia, type i 10.0 FGFR1 FGFR2 FGFR3 FGF8
42 bone disease 10.0 GDF5 FGFR3 FGFR2 FGF23
43 tooth agenesis 9.9 SATB2 FGFR2 FGFR1 FGF3 FGF10
44 hypophosphatemic rickets with hypercalciuria, hereditary 9.9 GALNT3 FGF7 FGF23
45 cleft palate, isolated 9.9 TP63 SATB2 FGFR2 FGFR1
46 oncogenic osteomalacia 9.9 FGF7 FGF23
47 diaphragmatic hernia, congenital 9.9
48 ascites, chylous 9.9
49 bile duct cysts 9.9
50 limbal stem cell deficiency 9.9

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



Diseases related to Lacrimoauriculodentodigital Syndrome
Sources

Symptoms & Phenotypes for Lacrimoauriculodentodigital Syndrome

About this section

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lacrimoauriculodentodigital Syndrome:

32 (show all 41)
# 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 corneal perforation 32 HP:0100583
24 2-3 finger syndactyly 32 HP:0001233
25 hypoplasia of dental enamel 32 HP:0006297
26 absent lacrimal punctum 32 HP:0001092
27 broad hallux 32 HP:0010055
28 preaxial polydactyly 32 HP:0100258
29 small thenar eminence 32 HP:0001245
30 hypoplastic lacrimal duct 32 HP:0007900
31 mixed hearing impairment 32 HP:0000410
32 recurrent corneal erosions 32 HP:0000495
33 absence of stensen duct 32 HP:0000198
34 nephrosclerosis 32 HP:0009741
35 lacrimal gland hypoplasia 32 HP:0007732
36 radial deviation of the 3rd finger 32 HP:0009462
37 bilateral triphalangeal thumbs 32 HP:0005707
38 lacrimal gland aplasia 32 HP:0007656
39 hypoplasia of the lacrimal punctum 32 HP:0007892
40 absent proximal phalanx of thumb 32 HP:0009637
41 aplasia of the parotid gland 32 HP:0009740

MGI Mouse Phenotypes related to Lacrimoauriculodentodigital Syndrome:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.48 ARID1B FGF10 FGF14 FGF23 FGF3 FGF7
2 behavior/neurological MP:0005386 10.38 ARID1B FGF10 FGF14 FGF3 FGF7 FGF8
3 homeostasis/metabolism MP:0005376 10.34 ARID1B FGF10 FGF23 FGF7 FGF8 FGF9
4 cardiovascular system MP:0005385 10.33 ARID1B FGF10 FGF23 FGF8 FGF9 FGFR1
5 immune system MP:0005387 10.29 ARID1B FGF10 FGF23 FGF3 FGF7 FGF8
6 limbs/digits/tail MP:0005371 10.29 FGF10 FGF23 FGF3 FGF8 FGF9 FGFR1
7 craniofacial MP:0005382 10.28 FGF10 FGF8 FGF9 FGFR1 FGFR2 FGFR3
8 digestive/alimentary MP:0005381 10.27 FGF10 FGF23 FGF8 FGF9 FGFR1 FGFR2
9 mortality/aging MP:0010768 10.27 ARID1B FGF10 FGF23 FGF3 FGF8 FGF9
10 embryo MP:0005380 10.22 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
11 endocrine/exocrine gland MP:0005379 10.21 FGF10 FGF23 FGF8 FGF9 FGFR1 FGFR2
12 integument MP:0010771 10.19 FGF10 FGF20 FGF23 FGF7 FGF9 FGFR1
13 nervous system MP:0003631 10.18 ARID1B FGF10 FGF14 FGF20 FGF3 FGF7
14 hearing/vestibular/ear MP:0005377 10.14 FGF10 FGF20 FGF3 FGF8 FGF9 FGFR1
15 muscle MP:0005369 10.13 ARID1B FGF10 FGF14 FGF8 FGF9 FGFR1
16 renal/urinary system MP:0005367 10.06 ARID1B FGF10 FGF23 FGF7 FGF8 FGF9
17 reproductive system MP:0005389 10.03 FGF10 FGF23 FGF3 FGF7 FGF8 FGF9
18 normal MP:0002873 10.02 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
19 skeleton MP:0005390 9.8 FGF10 FGF23 FGF3 FGF7 FGF8 FGF9
20 respiratory system MP:0005388 9.76 FGF10 FGF23 FGF8 FGF9 FGFR2 FGFR3
21 vision/eye MP:0005391 9.23 FGF10 FGF7 FGF8 FGF9 FGFR1 FGFR2
Sources

Drugs & Therapeutics for Lacrimoauriculodentodigital Syndrome

About this section

Search Clinical Trials , NIH Clinical Center for Lacrimoauriculodentodigital Syndrome

Sources

Genetic Tests for Lacrimoauriculodentodigital Syndrome

About this section

Genetic tests related to Lacrimoauriculodentodigital Syndrome:

# Genetic test Affiliating Genes
1 Levy-Hollister Syndrome 29 FGF10 FGFR2 FGFR3
Sources

Anatomical Context for Lacrimoauriculodentodigital Syndrome

About this section

MalaCards organs/tissues related to Lacrimoauriculodentodigital Syndrome:

41
Salivary Gland, Eye, Kidney, Skin, Bone, Lung, Heart
Sources

Publications for Lacrimoauriculodentodigital Syndrome

About this section

Articles related to Lacrimoauriculodentodigital Syndrome:

(show all 24)
# Title Authors Year
1
Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing. ( 28483234 )
2017
2
LADD syndrome with glaucoma is caused by a novel gene. ( 28400699 )
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
LADD syndrome is caused by FGF10 mutations. ( 16630169 )
2006
9
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. ( 16460812 )
2006
10
Mutations in different components of FGF signaling in LADD syndrome. ( 16501574 )
2006
11
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. ( 15829693 )
2005
12
Limbal stem cell deficiency associated with LADD syndrome. ( 15883293 )
2005
13
Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. ( 15352854 )
2004
14
The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. ( 10348439 )
1999
15
Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome. ( 9006512 )
1997
16
LADD syndrome in five members of a three-generation family and prenatal diagnosis. ( 8031542 )
1994
17
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. ( 8110420 )
1993
18
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. ( 8411061 )
1993
19
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. ( 2225531 )
1990
20
Lacrimo-auriculo-dento-digital (LADD) syndrome. ( 3678282 )
1987
21
LADD syndrome: a distinct entity? ( 3582415 )
1987
22
LADD syndrome: report of new cases and review of the clinical spectrum. ( 3709571 )
1986
23
Phenotypic variation in LADD syndrome. ( 4078868 )
1985
24
Lacrimo-auriculo-dento-digital (LADD) syndrome. ( 4469979 )
1974
Sources

Variations for Lacrimoauriculodentodigital Syndrome

About this section

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

75
# 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 Lacrimoauriculodentodigital Syndrome:

6 (show top 50) (show all 180)
# 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.317G> T (p.Cys106Phe) single nucleotide variant Pathogenic rs104893885 GRCh38 Chromosome 5, 44388366: 44388366
3 FGF10 NM_004465.1(FGF10): c.467T> G (p.Ile156Arg) single nucleotide variant Pathogenic rs104893886 GRCh37 Chromosome 5, 44305257: 44305257
4 FGF10 NM_004465.1(FGF10): c.467T> G (p.Ile156Arg) single nucleotide variant Pathogenic rs104893886 GRCh38 Chromosome 5, 44305155: 44305155
5 FGF10 NM_004465.1(FGF10): c.409A> T (p.Lys137Ter) single nucleotide variant Pathogenic rs104893887 GRCh37 Chromosome 5, 44310549: 44310549
6 FGF10 NM_004465.1(FGF10): c.409A> T (p.Lys137Ter) single nucleotide variant Pathogenic rs104893887 GRCh38 Chromosome 5, 44310447: 44310447
7 FGF10 NM_004465.1(FGF10): c.240A> C (p.Arg80Ser) single nucleotide variant Pathogenic rs104893888 GRCh37 Chromosome 5, 44388545: 44388545
8 FGF10 NM_004465.1(FGF10): c.240A> C (p.Arg80Ser) single nucleotide variant Pathogenic rs104893888 GRCh38 Chromosome 5, 44388443: 44388443
9 FGFR2 NM_000141.4(FGFR2): c.1942G> A (p.Ala648Thr) single nucleotide variant Pathogenic rs121918508 GRCh37 Chromosome 10, 123247549: 123247549
10 FGFR2 NM_000141.4(FGFR2): c.1942G> A (p.Ala648Thr) single nucleotide variant Pathogenic rs121918508 GRCh38 Chromosome 10, 121488035: 121488035
11 FGFR2 NM_000141.4(FGFR2): c.1947_1949delAGA (p.Arg649_Asp650delinsSer) deletion Pathogenic rs879253720 GRCh37 Chromosome 10, 123247542: 123247544
12 FGFR2 NM_000141.4(FGFR2): c.1947_1949delAGA (p.Arg649_Asp650delinsSer) deletion Pathogenic rs879253720 GRCh38 Chromosome 10, 121488028: 121488030
13 FGFR2 NM_000141.4(FGFR2): c.1882G> A (p.Ala628Thr) single nucleotide variant Pathogenic rs121918509 GRCh37 Chromosome 10, 123247609: 123247609
14 FGFR2 NM_000141.4(FGFR2): c.1882G> A (p.Ala628Thr) single nucleotide variant Pathogenic rs121918509 GRCh38 Chromosome 10, 121488095: 121488095
15 FGFR3 NM_000142.4(FGFR3): c.1537G> A (p.Asp513Asn) single nucleotide variant Pathogenic rs121913112 GRCh37 Chromosome 4, 1807288: 1807288
16 FGFR3 NM_000142.4(FGFR3): c.1537G> A (p.Asp513Asn) single nucleotide variant Pathogenic rs121913112 GRCh38 Chromosome 4, 1805561: 1805561
17 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
18 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
19 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
20 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
21 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
22 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
23 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
24 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
25 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
26 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
27 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
28 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
29 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
30 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
31 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
32 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
33 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
34 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
35 FGF10 NM_004465.1(FGF10): c.620A> C (p.His207Pro) single nucleotide variant Likely benign rs147715509 GRCh37 Chromosome 5, 44305104: 44305104
36 FGF10 NM_004465.1(FGF10): c.620A> C (p.His207Pro) single nucleotide variant Likely benign rs147715509 GRCh38 Chromosome 5, 44305002: 44305002
37 FGF10 NM_004465.1(FGF10): c.591C> T (p.Thr197=) single nucleotide variant Benign rs17234639 GRCh37 Chromosome 5, 44305133: 44305133
38 FGF10 NM_004465.1(FGF10): c.591C> T (p.Thr197=) single nucleotide variant Benign rs17234639 GRCh38 Chromosome 5, 44305031: 44305031
39 FGF10 NM_004465.1(FGF10): c.430-15G> C single nucleotide variant Benign rs2290070 GRCh37 Chromosome 5, 44305309: 44305309
40 FGF10 NM_004465.1(FGF10): c.430-15G> C single nucleotide variant Benign rs2290070 GRCh38 Chromosome 5, 44305207: 44305207
41 FGF10 NM_004465.1(FGF10): c.426C> T (p.Gly142=) single nucleotide variant Uncertain significance rs149851674 GRCh37 Chromosome 5, 44310532: 44310532
42 FGF10 NM_004465.1(FGF10): c.426C> T (p.Gly142=) single nucleotide variant Uncertain significance rs149851674 GRCh38 Chromosome 5, 44310430: 44310430
43 FGF10 NM_004465.1(FGF10): c.186C> A (p.Ser62Arg) single nucleotide variant Uncertain significance rs886060654 GRCh37 Chromosome 5, 44388599: 44388599
44 FGF10 NM_004465.1(FGF10): c.186C> A (p.Ser62Arg) single nucleotide variant Uncertain significance rs886060654 GRCh38 Chromosome 5, 44388497: 44388497
45 FGF10 NM_004465.1(FGF10): c.261G> A (p.Lys87=) single nucleotide variant Likely benign rs545941601 GRCh37 Chromosome 5, 44388524: 44388524
46 FGF10 NM_004465.1(FGF10): c.261G> A (p.Lys87=) single nucleotide variant Likely benign rs545941601 GRCh38 Chromosome 5, 44388422: 44388422
47 FGF10 NM_004465.1(FGF10): c.144G> A (p.Glu48=) single nucleotide variant Uncertain significance rs886060655 GRCh37 Chromosome 5, 44388641: 44388641
48 FGF10 NM_004465.1(FGF10): c.144G> A (p.Glu48=) single nucleotide variant Uncertain significance rs886060655 GRCh38 Chromosome 5, 44388539: 44388539
49 FGF10 NM_004465.1(FGF10): c.624A> G (p.Ser208=) single nucleotide variant Uncertain significance rs886060653 GRCh37 Chromosome 5, 44305100: 44305100
50 FGF10 NM_004465.1(FGF10): c.624A> G (p.Ser208=) single nucleotide variant Uncertain significance rs886060653 GRCh38 Chromosome 5, 44304998: 44304998
Sources

Expression for Lacrimoauriculodentodigital Syndrome

About this section
Search GEO for disease gene expression data for Lacrimoauriculodentodigital Syndrome.
Sources

Pathways for Lacrimoauriculodentodigital Syndrome

About this section

Pathways related to Lacrimoauriculodentodigital Syndrome according to KEGG:

37
# 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 all 50)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 14.04 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
2
Apoptotic Pathways in Synovial Fibroblasts 64
Show member pathways
 13.88 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
3
ERK Signaling 64
Show member pathways
 13.87 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
4
GPCR Pathway 64
Show member pathways
 13.81 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
5
HIV Life Cycle 66
Show member pathways
 13.75 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
6
TGF-Beta Pathway 64
Show member pathways
 13.65 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
7
Activation of cAMP-Dependent PKA 64
Show member pathways
 13.63 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
8
Developmental Biology 66
Show member pathways
 13.58 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
9
Class I MHC mediated antigen processing and presentation 66
Show member pathways
 13.55 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
10
Akt Signaling 64
Show member pathways
 13.51 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
11
Cytokine Signaling in Immune system 66
Show member pathways
 13.46 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
12
CREB Pathway 64
Show member pathways
 13.43 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
13
PAK Pathway 64
Show member pathways
 13.41 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
14
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.39 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
15
PI3K/AKT activation 66
Show member pathways
 13.26 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
16
Phospholipase-C Pathway 64
Show member pathways
 13.21 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
17
p70S6K Signaling 64
Show member pathways
 13.2 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
18
PI3K-Akt signaling pathway 37
Show member pathways
 13.15 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
19
Downstream signaling of activated FGFR2 66
Show member pathways
 13.02 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
20
Pathways in cancer 37
13 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
21
Glioma 37
Show member pathways
 12.94 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
22
MAPK signaling pathway 37 1
12.92 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
23
Gastric cancer 37
Show member pathways
 12.91 ARID1B FGF10 FGF20 FGF23 FGF3 FGF7
24
Ras signaling pathway 37
Show member pathways
 12.88 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
25
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.86 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
26
NF-KappaB Family Pathway 64
Show member pathways
 12.83 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
27
Regulation of actin cytoskeleton 1 37
12.71 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
28
Negative regulation of FGFR1 signaling 66
Show member pathways
 12.63 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
29
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.57 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
30
mTOR signalling 66
Show member pathways
 12.53 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
31
Development FGFR signaling pathway 22
Show member pathways
 12.41 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
32
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.39 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
33
RhoGDI Pathway 64
Show member pathways
 12.28 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
34
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.21 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
35
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
12.11 FGF10 FGF3 FGF7 TP63
36
FGFR1 mutant receptor activation 66
Show member pathways
 12.01 FGF20 FGF23 FGF8 FGF9 FGFR1
37
Neural Crest Differentiation 1
11.99 FGF8 FGFR1 FGFR2 FGFR3
38
Signaling by FGFR2 66
Show member pathways
 11.98 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
39
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.88 FGF10 FGF8 FGFR1 FGFR3
40
Signaling by activated point mutants of FGFR3 66
Show member pathways
 11.85 FGF20 FGF23 FGF8 FGF9 FGFR3 GALNT3
41
G-protein signaling_RhoA regulation pathway 22
11.85 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
42
Angiogenesis (CST) 4
11.83 FGFR1 FGFR2 FGFR3
43
Central carbon metabolism in cancer 37
11.69 FGFR1 FGFR2 FGFR3
44
Vemurafenib Pathway, Pharmacodynamics 61
11.65 FGF3 FGF7 FGFR1 FGFR2 FGFR3
45
Differentiation Pathway 1
11.55 FGF10 FGF8 GDF5
46
FGF signaling pathway 1
11.54 FGF23 FGFR1 FGFR2
47
Alzheimers Disease Pathway 64
11.52 FGFR1 FGFR2 FGFR3
48
Signaling by FGFR2 in disease 66
Show member pathways
 11.52 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
49
Cytoskeleton remodeling_RalB regulation pathway 22
11.21 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
50
G-protein signaling_Rap2B regulation pathway 22
11.2 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
Sources

GO Terms for Lacrimoauriculodentodigital Syndrome

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.44 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7

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

(show top 50) (show all 73)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.97 FGF10 FGF8 FGF9 FGFR1 FGFR2
2 peptidyl-tyrosine phosphorylation GO:0018108 9.96 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
3 inner ear morphogenesis GO:0042472 9.95 FGF10 FGF8 FGF9 FGFR1 FGFR2
4 positive regulation of epithelial cell proliferation GO:0050679 9.93 FGF10 FGF7 FGF9 FGFR2
5 animal organ morphogenesis GO:0009887 9.92 FGF10 FGFR2 TP63
6 negative regulation of signal transduction GO:0009968 9.92 FGFR1 FGFR2 FGFR3
7 embryonic limb morphogenesis GO:0030326 9.92 FGF9 FGFR1 GDF5 TP63
8 positive regulation of cell division GO:0051781 9.92 FGF3 FGF7 FGF8 FGF9 FGFR2
9 epidermis development GO:0008544 9.91 FGF10 FGF7 TP63
10 positive regulation of canonical Wnt signaling pathway GO:0090263 9.91 FGF10 FGF9 FGFR2
11 chondrocyte differentiation GO:0002062 9.91 FGF9 FGFR1 FGFR3 GDF5 SCX
12 chromatin remodeling GO:0006338 9.9 ARID1B SATB2 TP63
13 BMP signaling pathway GO:0030509 9.9 FGF8 GDF5 SCX
14 epithelial cell differentiation GO:0030855 9.89 FGF10 FGFR2 TP63
15 positive chemotaxis GO:0050918 9.87 FGF10 FGF7 FGF8
16 positive regulation of cardiac muscle cell proliferation GO:0060045 9.86 FGF9 FGFR1 FGFR2
17 hair follicle morphogenesis GO:0031069 9.86 FGF10 FGF7 FGFR2 TP63
18 phosphatidylinositol phosphorylation GO:0046854 9.85 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
19 positive regulation of mesenchymal cell proliferation GO:0002053 9.81 FGF9 FGFR1 FGFR2
20 embryonic pattern specification GO:0009880 9.81 FGF10 FGFR2 SATB2
21 branching involved in salivary gland morphogenesis GO:0060445 9.8 FGF10 FGF7 FGF8 FGFR1 FGFR2
22 organ induction GO:0001759 9.79 FGF10 FGF8 FGFR1
23 positive regulation of keratinocyte proliferation GO:0010838 9.79 FGF10 FGF7 TP63
24 lung-associated mesenchyme development GO:0060484 9.77 FGF9 FGFR1 FGFR2
25 positive regulation of phospholipase activity GO:0010518 9.77 FGFR1 FGFR2 FGFR3
26 otic vesicle formation GO:0030916 9.76 FGF10 FGF8 FGFR2
27 lung morphogenesis GO:0060425 9.75 FGF10 FGF8
28 protein localization to cell surface GO:0034394 9.74 FGF10 FGF7
29 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.74 FGF10 FGF9
30 embryonic digestive tract development GO:0048566 9.74 FGF10 FGF9
31 embryonic digestive tract morphogenesis GO:0048557 9.74 FGF10 FGFR2
32 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.74 FGF10 FGF7 FGFR1
33 generation of neurons GO:0048699 9.73 FGF8 FGFR1
34 mesonephros development GO:0001823 9.73 FGF10 FGF8
35 organ growth GO:0035265 9.72 FGF10 FGFR2
36 positive regulation of keratinocyte migration GO:0051549 9.72 FGF10 FGF7
37 limb bud formation GO:0060174 9.72 FGF10 FGFR2
38 mesenchymal cell differentiation GO:0048762 9.71 FGFR1 FGFR2
39 salivary gland morphogenesis GO:0007435 9.71 FGF10 FGFR1
40 bud elongation involved in lung branching GO:0060449 9.71 FGF10 FGFR2
41 endochondral bone growth GO:0003416 9.71 FGFR2 FGFR3
42 lacrimal gland development GO:0032808 9.7 FGF10 FGFR2
43 epidermis morphogenesis GO:0048730 9.7 FGF10 FGFR2
44 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.7 FGF7 FGFR2
45 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.7 FGF10 FGFR2
46 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.69 FGF23 FGFR1
47 orbitofrontal cortex development GO:0021769 9.69 FGFR1 FGFR2
48 prostatic bud formation GO:0060513 9.68 FGF10 TP63
49 female genitalia morphogenesis GO:0048807 9.68 FGF10 TP63
50 regulation of phosphate transport GO:0010966 9.68 FGF23 FGFR1

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

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

Sources for Lacrimoauriculodentodigital Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....