MCID: OCL013
MIFTS: 57

Oculodentodigital Dysplasia malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases categories

Aliases & Classifications for Oculodentodigital Dysplasia

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 49 10 11 45 22 23 47 12 51 36 67
Odd Syndrome 10 45 22 23 67
Oculodentoosseous Dysplasia 22 23 51 67
Oculo-Dento-Digital Dysplasia 45 23 67
Oculodentodigital Syndrome 45 23 67
Oddd 45 23 67
Oculodentodigital Dysplasia Syndrome 47 24
 
Oculo-Dento-Digital Syndrome 45 67
Odod 23 67
Osseous-Oculo-Dental Dysplasia 23
Oculo-Dento-Osseous Dysplasia 23
Meyer-Schwickerath Syndrome 51
Oddd Syndrome 51
Odds 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
oculodentodigital dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 164200
Disease Ontology10 DOID:0060291
Orphanet51 2710
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0812437
MedGen34 C0812437

Summaries for Oculodentodigital Dysplasia

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OMIM:49 Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes,... (164200) more...

MalaCards based summary: Oculodentodigital Dysplasia, also known as odd syndrome, is related to oculodentodigital dysplasia, autosomal recessive and syndactyly, type iii, and has symptoms including cleft palate, underdeveloped nasal alae and narrow nasal bridge. An important gene associated with Oculodentodigital Dysplasia is GJA1 (Gap Junction Protein, Alpha 1, 43kDa), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Oligomerization of connexins into connexons. Affiliated tissues include eye, skin and bone.

Genetics Home Reference:23 Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers.

NIH Rare Diseases:45 Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). the condition is caused by mutations in the gja1 gene. most cases are inherited in an autosomal dominant pattern. some cases are caused by a new mutation in the gene. a small number of cases follow an autosomal recessive pattern of inheritance. management is multidisciplinary and based on specific symptoms. early diagnosis is critical for prevention and treatment. last updated: 1/26/2011

UniProtKB/Swiss-Prot:67 Oculodentodigital dysplasia: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.

Wikipedia:68 Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results... more...

Related Diseases for Oculodentodigital Dysplasia

About this section

Diseases in the Oculodentodigital Dysplasia family:

Oculodentodigital Dysplasia, Autosomal Recessive Oculodentodigital Dysplasia Dominant

Diseases related to Oculodentodigital Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1oculodentodigital dysplasia, autosomal recessive31.3GFER, GJA1
2syndactyly, type iii30.6GFER, GJA1
3erythrokeratodermia variabilis et progressiva28.7GFER, GJA1, GJA4, GJB1, GJB2, GJB3
4syndactyly10.6
5oculodentoosseous dysplasia recessive10.5
6hyperlipidemia type 310.5
7persistent hyperplastic primary vitreous10.5
8fraser syndrome10.4
9cerebritis10.4
10oculodentodigital dysplasia dominant10.4
11oppositional defiant disorder10.4
12attention deficit-hyperactivity disorder10.3
13conduct disorder10.3
14palmoplantar keratoderma with congenital alopecia10.2GFER, GJA1
15hypoplastic left heart syndrome 110.2GFER, GJA1
16atrioventricular septal defect 310.2GFER, GJA1
17craniometaphyseal dysplasia, autosomal recessive10.2GFER, GJA1
18colorectal adenoma10.2
19schizotypal personality disorder10.2
20psoriasis10.2
21psychotic disorder10.2
22cleft lip10.2
23hallermann-streiff syndrome10.2
24congenital heart disease10.2
25dysostosis10.2
26keratosis10.2
27palmoplantar keratosis10.2
28paraplegia10.2
29spasticity10.2
30keratitis-ichthyosis-deafness syndrome10.2GJA1, GJB2
31breast cancer10.1
32essential tremor10.1
33ego-dystonic sexual orientation10.1
34pseudopapilledema10.1
35optic disk drusen10.1
36disease of mental health10.1
37gingivitis10.1
38mouth disease10.1
39periodontitis10.1
40vitamin b12 deficiency10.1
41oral cancer10.1
42hypoxia10.1
43tremor10.1
44ectodermal dysplasia 2, clouston type10.1GJA1, GJB2, GJB4
45x-linked charcot-marie-tooth disease type 110.1GJB1, GJB2
46bart-pumphrey syndrome10.1GJB2, LOR
47nonsyndromic hearing loss and deafness, mitochondrial10.1GJB2, GJB3
48deafness, autosomal recessive 1a10.0GJB2, GJB3
49hemangioma, hereditary10.0GJB2, GJB3
50colon carcinoma in situ10.0GJB2, GJB3

Graphical network of the top 20 diseases related to Oculodentodigital Dysplasia:



Diseases related to oculodentodigital dysplasia

Symptoms for Oculodentodigital Dysplasia

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Symptoms by clinical synopsis from OMIM:

164200

Clinical features from OMIM:

164200

Symptoms:

 51 (show all 86)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • microcornea
  • anomalies of nose and olfaction
  • narrow nasal bridge
  • anteverted nares/nostrils
  • thin/hypoplastic ala nasi
  • thick columella
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • multiple caries
  • premature lost of decidious teeth
  • syndactyly of fingers/interdigital palm
  • camptodactyly of some fingers
  • clinodactyly of fifth finger
  • syndactyly of toes
  • autosomal dominant inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • high forehead
  • hypertelorism
  • hypotelorism
  • prognathism/prognathia
  • enlargment of jaw/large jaw
  • anomalies of eyes and vision
  • glaucoma
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • hypermetropia
  • myopia
  • short/small nose
  • small/triangular nares/nostrils
  • median cleft lip
  • broad alveolar ridge
  • external ear anomalies
  • conductive deafness/hearing loss
  • camptodactyly of fingers
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • slow growth of the hair
  • abnormal hair texture/hair dysplasia
  • nails anomalies
  • abnormal fingernails
  • bladder and ureter anomalies
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intracranial/cerebral calcifications
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle weakness/flaccidity
  • hyperostosis
  • metaphyseal anomaly
  • cortical anomaly/thick bone cortical layer
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • deepset eyes/enophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • aniridia/iris hypoplasia
  • strabismus/squint
  • nystagmus
  • blepharophimosis/short palpebral fissures
  • epicanthic folds
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • taurodontia
  • hearing loss/hypoacusia/deafness
  • clavicle absent/abnormal
  • abnormal vertebral size/shape
  • umbilical hernia
  • madelung's deformity
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • preaxial polydactyly (hand)
  • short big toe
  • palmoplantar hyperkeratosis/keratoderma
  • fine hair
  • brittle hair/distrix/trichorrhexis
  • congenital cardiac anomaly/malformation/cardiopathy
  • ventricular septal defect/interventricular communication
  • cardiac rhythm disorder/arrhythmia
  • hypoglycemia
  • diaphyseal anomaly
  • autosomal recessive inheritance

HPO human phenotypes related to Oculodentodigital Dysplasia:

(show all 121)
id Description Frequency HPO Source Accession
1 cleft palate hallmark (90%) HP:0000175
2 underdeveloped nasal alae hallmark (90%) HP:0000430
3 narrow nasal bridge hallmark (90%) HP:0000446
4 anteverted nares hallmark (90%) HP:0000463
5 microcornea hallmark (90%) HP:0000482
6 carious teeth hallmark (90%) HP:0000670
7 abnormality of dental enamel hallmark (90%) HP:0000682
8 toe syndactyly hallmark (90%) HP:0001770
9 clinodactyly of the 5th finger hallmark (90%) HP:0004209
10 finger syndactyly hallmark (90%) HP:0006101
11 premature loss of primary teeth hallmark (90%) HP:0006323
12 reduced number of teeth hallmark (90%) HP:0009804
13 broad columella hallmark (90%) HP:0010761
14 camptodactyly of finger hallmark (90%) HP:0100490
15 abnormality of the urinary system typical (50%) HP:0000079
16 median cleft lip typical (50%) HP:0000161
17 broad alveolar ridges typical (50%) HP:0000187
18 mandibular prognathia typical (50%) HP:0000303
19 hypertelorism typical (50%) HP:0000316
20 high forehead typical (50%) HP:0000348
21 conductive hearing impairment typical (50%) HP:0000405
22 glaucoma typical (50%) HP:0000501
23 visual impairment typical (50%) HP:0000505
24 cataract typical (50%) HP:0000518
25 hypermetropia typical (50%) HP:0000540
26 myopia typical (50%) HP:0000545
27 hypotelorism typical (50%) HP:0000601
28 optic atrophy typical (50%) HP:0000648
29 abnormality of the metaphyses typical (50%) HP:0000944
30 abnormality of the fingernails typical (50%) HP:0001231
31 seizures typical (50%) HP:0001250
32 hypertonia typical (50%) HP:0001276
33 gait disturbance typical (50%) HP:0001288
34 muscle weakness typical (50%) HP:0001324
35 hyperreflexia typical (50%) HP:0001347
36 neurological speech impairment typical (50%) HP:0002167
37 slow-growing hair typical (50%) HP:0002217
38 incoordination typical (50%) HP:0002311
39 cerebral calcification typical (50%) HP:0002514
40 abnormal cortical bone morphology typical (50%) HP:0003103
41 short nose typical (50%) HP:0003196
42 hemiplegia/hemiparesis typical (50%) HP:0004374
43 craniofacial hyperostosis typical (50%) HP:0004493
44 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
45 external ear malformation typical (50%) HP:0008572
46 abnormal hair quantity typical (50%) HP:0011362
47 camptodactyly of finger typical (50%) HP:0100490
48 cognitive impairment typical (50%) HP:0100543
49 epicanthus occasional (7.5%) HP:0000286
50 micrognathia occasional (7.5%) HP:0000347
51 strabismus occasional (7.5%) HP:0000486
52 deeply set eye occasional (7.5%) HP:0000490
53 blepharophimosis occasional (7.5%) HP:0000581
54 upslanted palpebral fissure occasional (7.5%) HP:0000582
55 nystagmus occasional (7.5%) HP:0000639
56 taurodontia occasional (7.5%) HP:0000679
57 abnormality of the clavicle occasional (7.5%) HP:0000889
58 abnormal diaphysis morphology occasional (7.5%) HP:0000940
59 palmoplantar keratoderma occasional (7.5%) HP:0000982
60 brachydactyly syndrome occasional (7.5%) HP:0001156
61 preaxial hand polydactyly occasional (7.5%) HP:0001177
62 umbilical hernia occasional (7.5%) HP:0001537
63 ventricular septal defect occasional (7.5%) HP:0001629
64 hypoglycemia occasional (7.5%) HP:0001943
65 fine hair occasional (7.5%) HP:0002213
66 madelung deformity occasional (7.5%) HP:0003067
67 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
68 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
69 short hallux occasional (7.5%) HP:0010109
70 arrhythmia occasional (7.5%) HP:0011675
71 non-midline cleft lip occasional (7.5%) HP:0100335
72 neurogenic bladder rare (5%) HP:0000011
73 abnormality of the pinna rare (5%) HP:0000377
74 taurodontia rare (5%) HP:0000679
75 atria septal defect rare (5%) HP:0001631
76 arrhythmia rare (5%) HP:0011675
77 autosomal dominant inheritance HP:0000006
78 neurogenic bladder HP:0000011
79 cleft palate HP:0000175
80 broad alveolar ridges HP:0000187
81 cleft upper lip HP:0000204
82 microcephaly HP:0000252
83 epicanthus HP:0000286
84 conductive hearing impairment HP:0000405
85 underdeveloped nasal alae HP:0000430
86 narrow nasal bridge HP:0000446
87 microcornea HP:0000482
88 glaucoma HP:0000501
89 cataract HP:0000518
90 microphthalmos HP:0000568
91 blepharophimosis HP:0000581
92 carious teeth HP:0000670
93 microdontia HP:0000691
94 intellectual disability HP:0001249
95 seizures HP:0001250
96 ataxia HP:0001251
97 spasticity HP:0001257
98 dysarthria HP:0001260
99 selective tooth agenesis HP:0001592
100 fragile nails HP:0001808
101 basal ganglia calcification HP:0002135
102 fine hair HP:0002213
103 slow-growing hair HP:0002217
104 tetraparesis HP:0002273
105 paraparesis HP:0002385
106 abnormality of the cerebral white matter HP:0002500
107 hip dislocation HP:0002827
108 cubitus valgus HP:0002967
109 short middle phalanx of the 5th finger HP:0004220
110 thin anteverted nares HP:0004495
111 hypoplasia of dental enamel HP:0006297
112 premature loss of teeth HP:0006480
113 hyperactive deep tendon reflexes HP:0006801
114 sparse hair HP:0008070
115 vertebral hyperostosis HP:0008442
116 joint contracture of the 5th finger HP:0009183
117 3-4 toe syndactyly HP:0009779
118 4-5 finger syndactyly HP:0010705
119 dry hair HP:0011359
120 short palpebral fissure HP:0012745
121 clinodactyly HP:0030084

Drugs & Therapeutics for Oculodentodigital Dysplasia

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Drugs for Oculodentodigital Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Verteporfinapproved, investigationalPhase 382129497-78-55362420
Synonyms:
Verteporfin
Verteporfina
 
Verteporfinum
Vertéporfine
Visudyne
2
Aminolevulinic acidapprovedPhase 2128106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinate hydrochloride
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulan Kerastick
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid
3
Folic Acidapproved, nutraceutical285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
4Vitamin B Complex2775
5Vitamin B9Nutraceutical2851
6FolateNutraceutical2851
7carnitineNutraceutical138

Interventional clinical trials:

idNameStatusNCT IDPhase
1Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.TerminatedNCT00049959Phase 3
2A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
3Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
4To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)CompletedNCT00957229Phase 2
5Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell CarcinomasCompletedNCT01556009Phase 2
6A Clinical Trial of Dermacorder for Detecting Malignant Skin LesionsCompletedNCT01014819
7An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell CarcinomaRecruitingNCT02371967
8Levocarnitine in Treating Patients With Vismodegib-Associated Muscle SpasmsRecruitingNCT01893892
9Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus SyndromeNot yet recruitingNCT02157623

Search NIH Clinical Center for Oculodentodigital Dysplasia


Cochrane evidence based reviews: Oculodentodigital Dysplasia

Genetic Tests for Oculodentodigital Dysplasia

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Genetic tests related to Oculodentodigital Dysplasia:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia22 24 GJA1

Anatomical Context for Oculodentodigital Dysplasia

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MalaCards organs/tissues related to Oculodentodigital Dysplasia:

33
Eye, Skin, Bone, Cerebellum, Heart, Brain, Kidney

Animal Models for Oculodentodigital Dysplasia or affiliated genes

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Publications for Oculodentodigital Dysplasia

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Articles related to Oculodentodigital Dysplasia:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene. (26444782)
2015
2
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. (26087145)
2015
3
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. (25327171)
2014
4
Clinical manifestations of oculodentodigital dysplasia. (25231047)
2014
5
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. (25388818)
2014
6
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. (23727526)
2013
7
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. (24115525)
2013
8
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? (24133447)
2013
9
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. (23606748)
2013
10
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia. (22752022)
2012
11
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. (22214631)
2012
12
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. (21305658)
2011
13
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. (22004529)
2011
14
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. (21716323)
2011
15
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. (20597923)
2010
16
Dental management of oculodentodigital dysplasia: a case report. (20587963)
2010
17
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. (19638688)
2009
18
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. (19259389)
2009
19
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. (19847613)
2009
20
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). (18425059)
2009
21
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. (18455714)
2008
22
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. (18412120)
2008
23
Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. (18660473)
2008
24
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. (17476528)
2008
25
Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. (17687502)
2007
26
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. (18161618)
2007
27
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. (16891658)
2006
28
Clinical and genetic variability of oculodentodigital dysplasia. (16813608)
2006
29
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells. (16418219)
2006
30
Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants. (16531323)
2005
31
Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. (15879313)
2005
32
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. (16155213)
2005
33
Gene symbol: GJA1. Disease: oculodentodigital dysplasia. (15818811)
2005
34
Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia. (16222672)
2005
35
Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. (15512999)
2004
36
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (12457340)
2003
37
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. (10331943)
1999
38
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. (8110413)
1993
39
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. (1659191)
1991
40
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? (1663704)
1991
41
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? (2157843)
1990
42
Dental management of oculodentodigital dysplasia: report of case. (2937820)
1986
43
Oculodentodigital dysplasia. (3458155)
1986
44
Oculodentodigital dysplasia. (74156)
1977
45
Oculodentodigital dysplasia. (406906)
1977
46
Intraoral findings of oculodentodigital dysplasia. (824333)
1976
47
Oculodentodigital dysplasia. Picture of the month. (4209752)
1974
48
Oculodentodigital dysplasia syndrome. (4994052)
1971
49
Oculodentodigital dysplasia. (5820606)
1969
50
Oculodentodigital dysplasia. (13949300)
1963

Variations for Oculodentodigital Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Oculodentodigital Dysplasia:

67 (show all 42)
id Symbol AA change Variation ID SNP ID
1GJA1p.Tyr17SerVAR_015747
2GJA1p.Ser18ProVAR_015748
3GJA1p.Gly21ArgVAR_015749
4GJA1p.Gly22GluVAR_015750
5GJA1p.Lys23ThrVAR_015751
6GJA1p.Ala40ValVAR_015752
7GJA1p.Gln49LysVAR_015753
8GJA1p.Arg76SerVAR_015755
9GJA1p.Leu90ValVAR_015756
10GJA1p.Tyr98CysVAR_015757
11GJA1p.Lys102AsnVAR_015758
12GJA1p.Ile130ThrVAR_015759
13GJA1p.Lys134GluVAR_015760
14GJA1p.Gly138ArgVAR_015761
15GJA1p.Arg202HisVAR_015762
16GJA1p.Val216LeuVAR_015763
17GJA1p.Ser27ProVAR_038356
18GJA1p.Ile31MetVAR_038357
19GJA1p.Ser69TyrVAR_038358
20GJA1p.Leu113ProVAR_038359
21GJA1p.Lys134AsnVAR_038360
22GJA1p.Gly2ValVAR_058990
23GJA1p.Leu7ValVAR_058991
24GJA1p.Leu11ProVAR_058992
25GJA1p.Gln49ProVAR_058994
26GJA1p.Pro59HisVAR_058996
27GJA1p.His95ArgVAR_058998
28GJA1p.Val96AlaVAR_058999
29GJA1p.Val96GluVAR_059000
30GJA1p.Val96MetVAR_059001rs28931601
31GJA1p.Leu106ProVAR_059002
32GJA1p.Glu110AspVAR_059003
33GJA1p.Met147ThrVAR_059004
34GJA1p.Thr154AlaVAR_059005
35GJA1p.Thr154AsnVAR_059006
36GJA1p.His194ProVAR_059008
37GJA1p.Ser201PheVAR_059009
38GJA1p.Ser220TyrVAR_059010
39GJA1p.Lys206ArgVAR_070440
40GJA1p.Asp47HisVAR_071009
41GJA1p.Ser86TyrVAR_071010
42GJA1p.Leu106ArgVAR_071011

Clinvar genetic disease variations for Oculodentodigital Dysplasia:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1GJA1NM_000165.4(GJA1): c.50A> C (p.Tyr17Ser)single nucleotide variantPathogenicrs104893961GRCh37Chr 6, 121768043: 121768043
2GJA1NM_000165.4(GJA1): c.52T> C (p.Ser18Pro)single nucleotide variantPathogenicrs104893962GRCh37Chr 6, 121768045: 121768045
3GJA1NM_000165.4(GJA1): c.61G> A (p.Gly21Arg)single nucleotide variantPathogenicrs104893963GRCh37Chr 6, 121768054: 121768054
4GJA1NM_000165.4(GJA1): c.65G> A (p.Gly22Glu)single nucleotide variantPathogenicrs104893964GRCh37Chr 6, 121768058: 121768058
5GJA1GJA1, 3-BP DUP, 154TTTduplicationPathogenic
6GJA1NM_000165.4(GJA1): c.286G> A (p.Val96Met)single nucleotide variantPathogenicrs28931601GRCh37Chr 6, 121768279: 121768279
7GJA1GJA1, 2-BP DEL, 780T-GdeletionPathogenic
8GJA1NM_000165.4(GJA1): c.581A> C (p.His194Pro)single nucleotide variantPathogenicrs104893966GRCh37Chr 6, 121768574: 121768574
9GJA1NM_000165.4(GJA1): c.32T> C (p.Leu11Pro)single nucleotide variantPathogenicrs121912969GRCh37Chr 6, 121768025: 121768025
10GJA1GJA1, 2-BP DEL, 679ATdeletionPathogenic
11GJA1NM_000165.4(GJA1): c.97C> T (p.Arg33Ter)single nucleotide variantPathogenicrs121912970GRCh37Chr 6, 121768090: 121768090
12GJA1NM_000165.4(GJA1): c.227G> A (p.Arg76His)single nucleotide variantPathogenicrs267606844GRCh37Chr 6, 121768220: 121768220
13GJA1NM_000165.4(GJA1): c.226C> A (p.Arg76Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267606845GRCh37Chr 6, 121768219: 121768219
14GJA1GJA1, 12-BP DEL, NT120deletionPathogenic
15GJA1NM_000165.4(GJA1): c.31C> T (p.Leu11Phe)single nucleotide variantPathogenicrs387906616GRCh37Chr 6, 121768024: 121768024
16GJA1NM_000165.4(GJA1): c.617A> G (p.Lys206Arg)single nucleotide variantPathogenicrs397518464GRCh37Chr 6, 121768610: 121768610

Expression for genes affiliated with Oculodentodigital Dysplasia

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Search GEO for disease gene expression data for Oculodentodigital Dysplasia.

Pathways for genes affiliated with Oculodentodigital Dysplasia

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GO Terms for genes affiliated with Oculodentodigital Dysplasia

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Cellular components related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:00147049.7GJA1, GJA5
2gap junctionGO:00059216.9GJA1, GJA4, GJA5, GJB1, GJB2, GJB3
3connexon complexGO:00059226.9GJA1, GJA4, GJA5, GJB1, GJB2, GJB3

Biological processes related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell communication by chemical couplingGO:001065210.5GJA1, GJA5
2cell communication by electrical coupling involved in cardiac conductionGO:008606410.3GJA1, GJA5
3positive regulation of vasodilationGO:004590910.1GJA1, GJA5
4positive regulation of vasoconstrictionGO:004590710.0GJA1, GJA5
5cell communication by electrical couplingGO:001064410.0GJA1, GJA5
6gap junction assemblyGO:00162649.5GJA1, GJA5, GJB1, GJB2
7endothelium developmentGO:00031589.5GJA1, GJA4, GJA5
8membrane organizationGO:00610249.4GJA1, GJB1, GJB2
9protein oligomerizationGO:00512599.3GJA1, GJA5, GJB1
10blood vessel developmentGO:00015689.0GJA4, GJA5
11transportGO:00068108.4GJA1, GJA4, GJB1, GJB2
12cell-cell signalingGO:00072678.2GJA1, GJA4, GJB1, GJB2, GJC2
13transmembrane transportGO:00550857.9GJA1, GJA5, GJB1, GJB2, GJB3, GJC2
14cell communicationGO:00071547.0GJA1, GJA4, GJA5, GJB1, GJB2, GJB3

Molecular functions related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activity involved in cardiac conduction electrical couplingGO:008607510.1GJA1, GJA5
2connexin bindingGO:00712539.8GJA1, GJA5
3gap junction channel activityGO:00052437.7GJA1, GJA5, GJB1, GJB2, GJB3, GJC2

Sources for Oculodentodigital Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet