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LADD
MCID: LCR014
MIFTS: 57

Lacrimoauriculodentodigital Syndrome (LADD)

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
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Aliases & Classifications for Lacrimoauriculodentodigital Syndrome

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MalaCards integrated aliases for Lacrimoauriculodentodigital Syndrome:

Name: Lacrimoauriculodentodigital Syndrome 58 12 26 60 76 74
Ladd Syndrome 58 12 54 26 60 76 13 15
Levy-Hollister Syndrome 58 12 26 60 76 30 6
Lacrimo-Auriculo-Dento-Digital Syndrome 54 26 76 38
Congenital Duodenal Obstruction Due to Malrotation of Intestine 74
Lacrimoauriculodento-Digital Syndrome 54
Lacrimoauriculoradiodental Syndrome 60
Levy Hollister Syndrome 54
Lard Syndrome 60
Ladds 76
Ladd 58

Characteristics:

Orphanet epidemiological data:

60
lacrimoauriculodentodigital syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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: 35
Orphanet: 60  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Sources

Summaries for Lacrimoauriculodentodigital Syndrome

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UniProtKB/Swiss-Prot : 76 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 : 26 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 : 54 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 : 58 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)

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Related Diseases for Lacrimoauriculodentodigital Syndrome

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

(show top 50) (show all 51)
# 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 acanthoma 10.4 FGF10 FGFR2
5 intestinal volvulus 10.4
6 hemifacial hyperplasia 10.4 FGFR2 FGFR3
7 heterotaxy, visceral, 1, x-linked 10.3
8 heterotaxy 10.3
9 luteoma 10.3 FGFR2 FGFR3
10 deafness, autosomal recessive 51 10.2 FGF8 FGFR3
11 beare-stevenson cutis gyrata syndrome 10.2 FGFR2 FGFR3
12 synostoses, tarsal, carpal, and digital 10.2 FGF9 GDF5
13 plagiocephaly 10.2 FGFR1 FGFR2 FGFR3
14 osteoglophonic dysplasia 10.2 FGFR1 FGFR2 FGFR3
15 jackson-weiss syndrome 10.2 FGFR1 FGFR2 FGFR3
16 radioulnar synostosis 10.1 FGFR1 FGFR2 FGFR3
17 chromosome 2q35 duplication syndrome 10.1 FGFR2 FGFR3 TP63
18 hartsfield syndrome 10.1 FGF8 FGFR1
19 synovial chondromatosis 10.1 FGF9 FGFR1 FGFR3
20 crouzon syndrome 10.1 FGFR1 FGFR2 FGFR3
21 saethre-chotzen syndrome 10.1 FGFR1 FGFR2 FGFR3
22 clear cell acanthoma 10.1 FGF10 FGF7 FGFR2
23 hypospadias 10.1 FGF10 FGF8 FGFR2
24 osteochondroma 10.1 FGF9 FGFR1 FGFR3
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
26 cleft lip 10.1
27 cleft lip/palate 10.1
28 ankyloblepharon-ectodermal defects-cleft lip/palate 10.0 FGFR2 TP63
29 hypochondroplasia 10.0 FGF3 FGFR1 FGFR2 FGFR3
30 achondroplasia 10.0 FGF3 FGFR1 FGFR2 FGFR3
31 tooth agenesis 10.0 FGF10 FGF3 FGFR1 FGFR2
32 synostosis 10.0 FGFR1 FGFR2 FGFR3 GDF5
33 diaphragmatic hernia, congenital 10.0
34 intussusception 10.0
35 aplasia of lacrimal and salivary glands 10.0
36 limbal stem cell deficiency 10.0
37 visceral heterotaxy 10.0
38 scoliosis 10.0
39 heart disease 10.0
40 superior mesenteric artery syndrome 10.0
41 intestinal obstruction 10.0
42 bone development disease 10.0 FGFR1 FGFR2 FGFR3 GDF5
43 thanatophoric dysplasia, type i 10.0 FGF8 FGFR1 FGFR2 FGFR3
44 bone disease 9.9 FGF23 FGFR2 FGFR3 GDF5
45 oncogenic osteomalacia 9.9 FGF23 FGF7
46 lobar holoprosencephaly 9.8 FGF8 FGFR1
47 lung squamous cell carcinoma 9.8 FGF9 FGFR1 FGFR2 FGFR3 TP63
48 craniosynostosis 9.7 FGF10 FGF8 FGF9 FGFR1 FGFR2 FGFR3
49 apert syndrome 9.6 FGF10 FGF7 FGF9 FGFR1 FGFR2 FGFR3
50 pfeiffer syndrome 9.6 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3

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



Diseases related to Lacrimoauriculodentodigital Syndrome
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Symptoms & Phenotypes for Lacrimoauriculodentodigital Syndrome

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Human phenotypes related to Lacrimoauriculodentodigital Syndrome:

33 (show all 42)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 carious teeth 33 HP:0000670
3 periorbital fullness 33 HP:0000629
4 telecanthus 33 HP:0000506
5 broad forehead 33 HP:0000337
6 clinodactyly of the 5th finger 33 HP:0004209
7 downslanted palpebral fissures 33 HP:0000494
8 xerostomia 33 HP:0000217
9 hypodontia 33 HP:0000668
10 nasolacrimal duct obstruction 33 HP:0000579
11 partial duplication of thumb phalanx 33 HP:0009944
12 hyperextensible skin 33 HP:0000974
13 hypoplasia of the ulna 33 HP:0003022
14 conical incisor 33 HP:0011065
15 hypoplasia of the radius 33 HP:0002984
16 delayed eruption of primary teeth 33 HP:0000680
17 cupped ear 33 HP:0000378
18 alacrima 33 HP:0000522
19 renal agenesis 33 HP:0000104
20 absent radius 33 HP:0003974
21 dacryocystitis 33 HP:0000620
22 2-3 finger syndactyly 33 HP:0001233
23 coronal hypospadias 33 HP:0008743
24 corneal perforation 33 HP:0100583
25 aplasia of the parotid gland 33 HP:0009740
26 hypoplasia of dental enamel 33 HP:0006297
27 absent lacrimal punctum 33 HP:0001092
28 broad hallux 33 HP:0010055
29 preaxial polydactyly 33 HP:0100258
30 small thenar eminence 33 HP:0001245
31 hypoplastic lacrimal duct 33 HP:0007900
32 mixed hearing impairment 33 HP:0000410
33 lacrimal gland hypoplasia 33 HP:0007732
34 recurrent corneal erosions 33 HP:0000495
35 absence of stensen duct 33 HP:0000198
36 limbal stem cell deficiency 33 HP:0032107
37 nephrosclerosis 33 HP:0009741
38 radial deviation of the 3rd finger 33 HP:0009462
39 bilateral triphalangeal thumbs 33 HP:0005707
40 lacrimal gland aplasia 33 HP:0007656
41 hypoplasia of the lacrimal punctum 33 HP:0007892
42 absent proximal phalanx of thumb 33 HP:0009637

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Lacrimoauriculodentodigital Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after sindbis virus (SIN) dsTE12Q infection GR00242-A-3 8.8 FGF14 FGF7 GDF5

MGI Mouse Phenotypes related to Lacrimoauriculodentodigital Syndrome:

47 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.42 ARID1B FGF10 FGF14 FGF23 FGF3 FGF7
2 behavior/neurological MP:0005386 10.37 ARID1B FGF10 FGF14 FGF3 FGF7 FGF8
3 homeostasis/metabolism MP:0005376 10.3 ARID1B FGF10 FGF23 FGF7 FGF8 FGF9
4 cardiovascular system MP:0005385 10.24 ARID1B FGF10 FGF23 FGF8 FGF9 FGFR1
5 mortality/aging MP:0010768 10.23 ARID1B FGF10 FGF23 FGF3 FGF8 FGF9
6 limbs/digits/tail MP:0005371 10.22 FGF10 FGF23 FGF3 FGF8 FGF9 FGFR1
7 immune system MP:0005387 10.21 ARID1B FGF10 FGF23 FGF3 FGF7 FGF8
8 craniofacial MP:0005382 10.18 FGF10 FGF8 FGF9 FGFR1 FGFR2 FGFR3
9 digestive/alimentary MP:0005381 10.17 FGF10 FGF23 FGF8 FGF9 FGFR1 FGFR2
10 embryo MP:0005380 10.16 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
11 integument MP:0010771 10.15 FGF10 FGF20 FGF23 FGF7 FGF9 FGFR1
12 hearing/vestibular/ear MP:0005377 10.14 FGF10 FGF20 FGF3 FGF8 FGF9 FGFR1
13 nervous system MP:0003631 10.14 ARID1B FGF10 FGF14 FGF20 FGF3 FGF7
14 muscle MP:0005369 10.09 ARID1B FGF10 FGF14 FGF8 FGF9 FGFR1
15 normal MP:0002873 10.02 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
16 renal/urinary system MP:0005367 10.02 ARID1B FGF10 FGF23 FGF7 FGF8 FGF9
17 reproductive system MP:0005389 10 FGF10 FGF23 FGF3 FGF7 FGF8 FGF9
18 skeleton MP:0005390 9.73 FGF10 FGF23 FGF3 FGF7 FGF8 FGF9
19 respiratory system MP:0005388 9.7 FGF10 FGF23 FGF8 FGF9 FGFR2 FGFR3
20 vision/eye MP:0005391 9.23 FGF10 FGF7 FGF8 FGF9 FGFR1 FGFR2
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Drugs & Therapeutics for Lacrimoauriculodentodigital Syndrome

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Search Clinical Trials , NIH Clinical Center for Lacrimoauriculodentodigital Syndrome

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Genetic Tests for Lacrimoauriculodentodigital Syndrome

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Genetic tests related to Lacrimoauriculodentodigital Syndrome:

# Genetic test Affiliating Genes
1 Levy-Hollister Syndrome 30 FGF10 FGFR2 FGFR3
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Anatomical Context for Lacrimoauriculodentodigital Syndrome

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MalaCards organs/tissues related to Lacrimoauriculodentodigital Syndrome:

42
Salivary Gland, Eye, Kidney, Bone, Skin, Lung, Heart
Sources

Publications for Lacrimoauriculodentodigital Syndrome

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Articles related to Lacrimoauriculodentodigital Syndrome:

(show all 25)
# 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
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. ( 16460812 )
2006
9
Mutations in different components of FGF signaling in LADD syndrome. ( 16501574 )
2006
10
LADD syndrome is caused by FGF10 mutations. ( 16630169 )
2006
11
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. ( 15654336 )
2005
12
Limbal stem cell deficiency associated with LADD syndrome. ( 15883293 )
2005
13
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. ( 15829693 )
2005
14
Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. ( 15352854 )
2004
15
The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. ( 10348439 )
1999
16
Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome. ( 9006512 )
1997
17
LADD syndrome in five members of a three-generation family and prenatal diagnosis. ( 8031542 )
1994
18
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. ( 8110420 )
1993
19
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. ( 8411061 )
1993
20
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. ( 2225531 )
1990
21
LADD syndrome: a distinct entity? ( 3582415 )
1987
22
Lacrimo-auriculo-dento-digital (LADD) syndrome. ( 3678282 )
1987
23
LADD syndrome: report of new cases and review of the clinical spectrum. ( 3709571 )
1986
24
Phenotypic variation in LADD syndrome. ( 4078868 )
1985
25
Lacrimo-auriculo-dento-digital (LADD) syndrome. ( 4469979 )
1974
Sources

Variations for Lacrimoauriculodentodigital Syndrome

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

76
# 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 216)
# 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.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
10 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh38 Chromosome 10, 121517378: 121517378
11 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
12 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh38 Chromosome 10, 121517371: 121517371
13 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh37 Chromosome 10, 123279677: 123279677
14 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh38 Chromosome 10, 121520163: 121520163
15 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 GRCh37 Chromosome 10, 123279674: 123279674
16 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 GRCh38 Chromosome 10, 121520160: 121520160
17 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 GRCh37 Chromosome 10, 123274794: 123274794
18 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 GRCh38 Chromosome 10, 121515280: 121515280
19 FGFR2 NM_000141.4(FGFR2): c.1942G> A (p.Ala648Thr) single nucleotide variant Pathogenic rs121918508 GRCh37 Chromosome 10, 123247549: 123247549
20 FGFR2 NM_000141.4(FGFR2): c.1942G> A (p.Ala648Thr) single nucleotide variant Pathogenic rs121918508 GRCh38 Chromosome 10, 121488035: 121488035
21 FGFR2 NM_000141.4(FGFR2): c.1947_1949delAGA (p.Arg649_Asp650delinsSer) deletion Pathogenic rs879253720 GRCh37 Chromosome 10, 123247542: 123247544
22 FGFR2 NM_000141.4(FGFR2): c.1947_1949delAGA (p.Arg649_Asp650delinsSer) deletion Pathogenic rs879253720 GRCh38 Chromosome 10, 121488028: 121488030
23 FGFR2 NM_000141.4(FGFR2): c.1882G> A (p.Ala628Thr) single nucleotide variant Pathogenic rs121918509 GRCh37 Chromosome 10, 123247609: 123247609
24 FGFR2 NM_000141.4(FGFR2): c.1882G> A (p.Ala628Thr) single nucleotide variant Pathogenic rs121918509 GRCh38 Chromosome 10, 121488095: 121488095
25 FGFR3 NM_000142.4(FGFR3): c.1537G> A (p.Asp513Asn) single nucleotide variant Pathogenic rs121913112 GRCh37 Chromosome 4, 1807288: 1807288
26 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
27 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
28 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
29 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
30 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
31 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
32 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
33 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh38 Chromosome 4, 1801841: 1801841
34 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
35 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
36 FGFR3 NM_000142.4(FGFR3): c.1537G> A (p.Asp513Asn) single nucleotide variant Pathogenic rs121913112 GRCh38 Chromosome 4, 1805561: 1805561
37 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
38 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
39 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
40 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
41 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
42 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
43 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
44 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
45 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
46 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
47 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
48 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
49 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
50 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
Sources

Expression for Lacrimoauriculodentodigital Syndrome

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Search GEO for disease gene expression data for Lacrimoauriculodentodigital Syndrome.
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Pathways for Lacrimoauriculodentodigital Syndrome

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Pathways related to Lacrimoauriculodentodigital Syndrome according to KEGG:

38
# 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 67
Show member pathways
 14.03 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
2
Apoptotic Pathways in Synovial Fibroblasts 65
Show member pathways
 13.87 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
3
ERK Signaling 65
Show member pathways
 13.85 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
4
GPCR Pathway 65
Show member pathways
 13.8 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
5
HIV Life Cycle 67
Show member pathways
 13.74 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
6
TGF-Beta Pathway 65
Show member pathways
 13.63 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
7
Activation of cAMP-Dependent PKA 65
Show member pathways
 13.62 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
8
Developmental Biology 67
Show member pathways
 13.58 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
9
Class I MHC mediated antigen processing and presentation 67
Show member pathways
 13.54 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
10
Akt Signaling 65
Show member pathways
 13.5 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
11
Cytokine Signaling in Immune system 67
Show member pathways
 13.46 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
12
CREB Pathway 65
Show member pathways
 13.42 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
13
PAK Pathway 65
Show member pathways
 13.4 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
14
Nanog in Mammalian ESC Pluripotency 65
Show member pathways
 13.38 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
15
Phospholipase-C Pathway 65
Show member pathways
 13.2 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
16
p70S6K Signaling 65
Show member pathways
 13.19 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
17
PI3K-Akt signaling pathway 38
Show member pathways
 13.13 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
18
Downstream signaling of activated FGFR2 67
Show member pathways
 13.02 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
19
Pathways in cancer 38
13 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
20
MAPK signaling pathway 1 38
12.91 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
21
Gastric cancer 38
Show member pathways
 12.9 ARID1B FGF10 FGF20 FGF23 FGF3 FGF7
22
Ras signaling pathway 38
Show member pathways
 12.86 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
23
Glioma 38
Show member pathways
 12.85 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
24
Downstream signaling events of B Cell Receptor (BCR) 67
Show member pathways
 12.85 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
25
NF-KappaB Family Pathway 65
Show member pathways
 12.81 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
26
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.56 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
27
Regulation of actin cytoskeleton 38 1
12.56 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
28
mTOR signalling 67
Show member pathways
 12.5 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
29
Development FGFR signaling pathway 23
Show member pathways
 12.47 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
30
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.37 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
31
RhoGDI Pathway 65
Show member pathways
 12.28 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
32
Immune response IFN gamma signaling pathway 23
Show member pathways
 12.19 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
33
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 66
12.11 FGF10 FGF3 FGF7 TP63
34
Tyrosine Kinases / Adaptors 4
12.05 FGFR1 FGFR2 FGFR3
35
Signaling pathways regulating pluripotency of stem cells 38
12.02 FGFR1 FGFR2 FGFR3
36
FGFR1 mutant receptor activation 67
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 67
Show member pathways
 11.94 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
39
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.87 FGF10 FGF8 FGFR1 FGFR3
40
Angiogenesis (CST) 4
11.83 FGFR1 FGFR2 FGFR3
41
G-protein signaling_RhoA regulation pathway 23
11.82 FGF10 FGF14 FGF20 FGF23 FGF7 FGF8
42
Signaling by activated point mutants of FGFR3 67
Show member pathways
 11.79 FGF20 FGF23 FGF8 FGF9 FGFR3
43
Central carbon metabolism in cancer 38
11.69 FGFR1 FGFR2 FGFR3
44
Vemurafenib Pathway, Pharmacodynamics 62
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 65
11.52 FGFR1 FGFR2 FGFR3
48
Signaling by FGFR2 in disease 67
Show member pathways
 11.52 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
49
Cytoskeleton remodeling_RalB regulation pathway 23
11.25 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
50
G-protein signaling_Rap2B regulation pathway 23
11.19 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 positive regulation of MAPK cascade GO:0043410 9.99 FGF10 FGF9 FGFR1 FGFR2 FGFR3
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.99 FGF10 FGF20 FGF23 FGF8 FGFR2 FGFR3
3 lung development GO:0030324 9.96 FGF10 FGF8 FGF9 FGFR1 FGFR2
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.96 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
5 skeletal system development GO:0001501 9.92 FGFR1 FGFR3 TP63
6 negative regulation of neuron apoptotic process GO:0043524 9.92 FGF20 FGF8 GDF5
7 positive regulation of epithelial cell proliferation GO:0050679 9.92 FGF10 FGF7 FGF9 FGFR2
8 inner ear morphogenesis GO:0042472 9.92 FGF10 FGF8 FGF9 FGFR1 FGFR2
9 animal organ morphogenesis GO:0009887 9.91 FGF10 FGFR2 TP63
10 embryonic limb morphogenesis GO:0030326 9.91 FGF9 FGFR1 GDF5 TP63
11 epidermis development GO:0008544 9.9 FGF10 FGF7 TP63
12 positive regulation of canonical Wnt signaling pathway GO:0090263 9.9 FGF10 FGF9 FGFR2
13 BMP signaling pathway GO:0030509 9.89 FGF8 GDF5 SCX
14 positive regulation of cell division GO:0051781 9.89 FGF3 FGF7 FGF8 FGF9 FGFR2
15 epithelial cell differentiation GO:0030855 9.88 FGF10 FGFR2 TP63
16 positive chemotaxis GO:0050918 9.86 FGF10 FGF7 FGF8
17 positive regulation of cardiac muscle cell proliferation GO:0060045 9.85 FGF9 FGFR1 FGFR2
18 MAPK cascade GO:0000165 9.85 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
19 hair follicle morphogenesis GO:0031069 9.84 FGF10 FGF7 FGFR2 TP63
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.8 FGF9 FGFR1 FGFR2
21 organ induction GO:0001759 9.78 FGF10 FGF8 FGFR1
22 chondrocyte differentiation GO:0002062 9.78 FGF9 FGFR1 FGFR3 SCX
23 positive regulation of keratinocyte proliferation GO:0010838 9.77 FGF10 FGF7 TP63
24 lung-associated mesenchyme development GO:0060484 9.76 FGF9 FGFR1 FGFR2
25 thyroid gland development GO:0030878 9.75 FGF10 FGF8
26 positive regulation of phospholipase activity GO:0010518 9.75 FGFR1 FGFR2 FGFR3
27 regulation of smoothened signaling pathway GO:0008589 9.74 FGF10 FGFR2
28 limb morphogenesis GO:0035108 9.74 FGF10 FGF8
29 embryonic pattern specification GO:0009880 9.74 FGF10 FGFR2
30 lung morphogenesis GO:0060425 9.74 FGF10 FGF8
31 protein localization to cell surface GO:0034394 9.74 FGF10 FGF7
32 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.74 FGF10 FGF9
33 otic vesicle formation GO:0030916 9.74 FGF10 FGF8 FGFR2
34 embryonic digestive tract development GO:0048566 9.73 FGF10 FGF9
35 embryonic digestive tract morphogenesis GO:0048557 9.73 FGF10 FGFR2
36 generation of neurons GO:0048699 9.73 FGF8 FGFR1
37 mesonephros development GO:0001823 9.72 FGF10 FGF8
38 organ growth GO:0035265 9.72 FGF10 FGFR2
39 positive regulation of keratinocyte migration GO:0051549 9.72 FGF10 FGF7
40 negative regulation of apoptotic process GO:0043066 9.72 FGF8 SCX
41 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.72 FGF10 FGF7 FGFR1
42 branching involved in salivary gland morphogenesis GO:0060445 9.72 FGF10 FGF7 FGF8 FGFR1 FGFR2
43 limb bud formation GO:0060174 9.71 FGF10 FGFR2
44 mesenchymal cell differentiation GO:0048762 9.71 FGFR1 FGFR2
45 salivary gland morphogenesis GO:0007435 9.71 FGF10 FGFR1
46 bud elongation involved in lung branching GO:0060449 9.7 FGF10 FGFR2
47 endochondral bone growth GO:0003416 9.7 FGFR2 FGFR3
48 lacrimal gland development GO:0032808 9.7 FGF10 FGFR2
49 epidermis morphogenesis GO:0048730 9.69 FGF10 FGFR2
50 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.69 FGF7 FGFR2

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.81 FGF10 FGF14 FGF20 FGF23 FGF3 FGF7
2 heparin binding GO:0008201 9.72 FGF10 FGF7 FGF9 FGFR1 FGFR2
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 FGFR1 FGFR2 FGFR3
4 chemoattractant activity GO:0042056 9.58 FGF10 FGF7 FGF8
5 fibroblast growth factor binding GO:0017134 9.54 FGFR1 FGFR2 FGFR3
6 receptor-receptor interaction GO:0090722 9.43 FGF20 FGFR1
7 fibroblast growth factor-activated receptor activity GO:0005007 9.43 FGFR1 FGFR2 FGFR3
8 fibroblast growth factor receptor binding GO:0005104 9.17 FGF10 FGF20 FGF23 FGF3 FGF7 FGF8
9 protein tyrosine kinase activity GO:0004713 9.13 FGFR1 FGFR2 FGFR3
Sources

Sources for Lacrimoauriculodentodigital Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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
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