OFD4
MCID: ORF035
MIFTS: 49

Orofaciodigital Syndrome Iv (OFD4)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome Iv

MalaCards integrated aliases for Orofaciodigital Syndrome Iv:

Name: Orofaciodigital Syndrome Iv 57 12 20 72 13 15
Baraitser-Burn Syndrome 57 12 20 58 72
Ofd4 57 12 20 58 72
Orofaciodigital Syndrome 4 20 72 44 70
Ofd Syndrome with Tibial Defects 57 20 72
Mohr-Majewski Syndrome 57 58 72
Oral-Facial-Digital Syndrome, Type Iv 57 72
Oral-Facial-Digital Syndrome Type 4 20 58
Ofd Syndrome, Baraitser-Burn Type 57 6
Ofds Iv 57 72
Orofaciodigital Syndrome with Tibial Dysplasia 20
Oral Facial Digital Syndrome Type 4 20
Orofaciodigital Syndrome, Type Iv 39
Ofd Syndrome Baraitser-Burn Type 72
Orofaciodigital Syndrome Type 4 58
Oral Facial Digital Syndrome 4 20
Oral-Facial-Digital Syndrome 4 72
Ofd Syndrome 4 20
Ofds 4 20

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 4
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
orofaciodigital syndrome iv:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Orofaciodigital Syndrome Iv

UniProtKB/Swiss-Prot : 72 Orofaciodigital syndrome 4: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients.

MalaCards based summary : Orofaciodigital Syndrome Iv, also known as baraitser-burn syndrome, is related to ciliopathy and polydactyly. An important gene associated with Orofaciodigital Syndrome Iv is TCTN3 (Tectonic Family Member 3), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include tongue, eye and lung, and related phenotypes are intellectual disability and abnormality of eye movement

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has material basis in autosomal recessive inheritance of mutations in the TCTN3 gene.

GARD : 20 Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the middle portion of the lower leg (mesomelic limb shortening with tibial dysplasia). Orofaciodigital syndrome 4 is inherited in an autosomal recessive fashion. The condition appears to be caused by mutations in the tectonic family member 3 gene ( TCTN3 ).

More information from OMIM: 258860 PS311200

Related Diseases for Orofaciodigital Syndrome Iv

Diseases in the Orofaciodigital Syndrome family:

Orofaciodigital Syndrome X Orofaciodigital Syndrome V
Orofaciodigital Syndrome Iii Orofaciodigital Syndrome Iv
Orofaciodigital Syndrome Ix Orofaciodigital Syndrome Vi
Orofaciodigital Syndrome Viii Orofaciodigital Syndrome I
Orofaciodigital Syndrome Vii Orofaciodigital Syndrome Xi
Orofaciodigital Syndrome Xiv Orofaciodigital Syndrome Xv
Orofaciodigital Syndrome Xvi Orofaciodigital Syndrome Xvii
Orofaciodigital Syndrome Xviii Orofaciodigital Syndrome 12
Orofaciodigital Syndrome 13

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 30.1 TMEM231 C2CD3
2 polydactyly 29.7 OFD1 DYNC2I2 DYNC2I1 CPLANE1
3 cleft lip/palate 29.6 DYNC2I2 DYNC2I1
4 orofaciodigital syndrome 29.3 TMEM231 TMEM216 TCTN3 OFD1 DDX59 CPLANE1
5 orofaciodigital syndrome vi 28.9 TMEM231 TMEM216 TCTN3 OFD1 DDX59 CPLANE1
6 joubert syndrome 1 28.6 TMEM231 TMEM216 TCTN3 OFD1 CSPP1 CPLANE1
7 short-rib thoracic dysplasia 6 with or without polydactyly 28.0 TMEM216 TCTN3 OFD1 DYNC2I2 DYNC2I1 CSPP1
8 hypertelorism 10.4
9 cleft palate, isolated 10.1
10 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
11 mohr syndrome 10.1
12 short-rib thoracic dysplasia 10 with or without polydactyly 10.1
13 hydrocephalus 10.1
14 clubfoot 10.1
15 cleft lip 10.1
16 congenital hepatic fibrosis 10.1
17 short rib-polydactyly syndrome 10.1
18 telecanthus 10.1
19 renal hypodysplasia/aplasia 1 10.1
20 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
21 joubert syndrome 18 10.1
22 joubert syndrome 10 10.1 TMEM216 OFD1
23 joubert syndrome 13 10.1 TMEM216 OFD1
24 joubert syndrome 8 10.1 TMEM216 OFD1
25 branchiootic syndrome 1 10.1
26 orofaciodigital syndrome iii 10.1 TMEM231 OFD1
27 joubert syndrome 5 10.1 TMEM216 OFD1
28 joubert syndrome 4 10.1 TMEM216 OFD1
29 joubert syndrome 14 10.0 TMEM231 TMEM216
30 meckel syndrome, type 7 10.0 TMEM231 TMEM216
31 joubert syndrome 3 10.0 TMEM216 OFD1
32 meckel syndrome, type 2 10.0 TMEM231 TMEM216
33 meckel syndrome, type 5 10.0 TMEM231 TMEM216
34 acrocallosal syndrome 10.0 TMEM216 TCTN3
35 nephronophthisis 2 10.0 TMEM216 OFD1
36 joubert syndrome 2 9.9 TMEM216 OFD1 C2CD3
37 meckel syndrome, type 4 9.9 TMEM231 TMEM216 CPLANE1
38 short-rib thoracic dysplasia 8 with or without polydactyly 9.8 DYNC2I2 DYNC2I1
39 short-rib thoracic dysplasia 11 with or without polydactyly 9.8 DYNC2I2 DYNC2I1
40 bardet-biedl syndrome 7 9.8 DYNC2I2 DYNC2I1
41 short-rib thoracic dysplasia 12 9.7 DYNC2I2 DYNC2I1
42 johanson-blizzard syndrome 9.7 TMEM231 TMEM216 TCTN3 CPLANE1
43 meckel syndrome, type 3 9.7 TMEM231 TMEM216 TCTN3 OFD1
44 senior-loken syndrome 1 9.7 TMEM231 TMEM216 TCTN3 OFD1
45 weyers acrofacial dysostosis 9.7 DYNC2I2 DYNC2I1
46 spinocerebellar ataxia 29 9.7 TMEM216 OFD1 CPLANE1 C2CD3
47 apraxia 9.7 CSPP1 CPLANE1
48 polycystic kidney disease 4 with or without polycystic liver disease 9.7 TMEM231 TMEM216 OFD1 CPLANE1
49 meckel syndrome, type 6 9.7 TMEM231 TMEM216 TCTN3 C2CD3
50 cranioectodermal dysplasia 9.6 OFD1 DYNC2I2 DYNC2I1

Graphical network of the top 20 diseases related to Orofaciodigital Syndrome Iv:



Diseases related to Orofaciodigital Syndrome Iv

Symptoms & Phenotypes for Orofaciodigital Syndrome Iv

Human phenotypes related to Orofaciodigital Syndrome Iv:

58 31 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 abnormality of eye movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0000496
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
9 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
12 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
13 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
14 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
15 choanal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000453
16 laryngomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001601
17 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
18 preaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001177
19 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
20 genu varum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002970
21 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
22 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
23 abnormality of the tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0000157
24 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
25 abnormal oral frenulum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000190
26 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
27 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
28 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
29 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
30 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
31 hamartoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0010566
32 absent testis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010469
33 aplasia/hypoplasia of the tibia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005772
34 oral synechia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010285
35 abnormality of the gingiva 58 31 hallmark (90%) Very frequent (99-80%) HP:0000168
36 microtia, third degree 58 31 hallmark (90%) Very frequent (99-80%) HP:0011267
37 monorchism 58 31 hallmark (90%) Very frequent (99-80%) HP:0030868
38 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
39 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
40 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
41 split hand 58 31 frequent (33%) Frequent (79-30%) HP:0001171
42 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
43 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
44 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
45 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
46 subcortical cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012157
47 cerebral cortical hemiatrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100308
48 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
49 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
50 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Mouth:
cleft palate
lobulated tongue
tongue nodules
high-arched palate
oral frenula

Head And Neck Ears:
low-set ears

Skeletal Hands:
brachydactyly
clinodactyly
syndactyly
preaxial and/or postaxial polydactyly

Skeletal Feet:
syndactyly
preaxial and/or postaxial polydactyly

Growth Height:
short stature

Head And Neck Face:
micrognathia

Chest External Features:
pectus excavatum

Neurologic Central Nervous System:
porencephaly
cerebral atrophy

Skeletal Limbs:
short tibiae

Clinical features from OMIM®:

258860 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.92 C2CD3 CPLANE1 DDX59 DYNC2I1 DYNC2I2 OFD1
2 growth/size/body region MP:0005378 9.86 C2CD3 CPLANE1 CSPP1 DDX59 DYNC2I1 DYNC2I2
3 limbs/digits/tail MP:0005371 9.63 C2CD3 CPLANE1 DYNC2I2 OFD1 TCTN3 TMEM231
4 mortality/aging MP:0010768 9.56 C2CD3 CPLANE1 DDX59 DYNC2I1 DYNC2I2 OFD1
5 nervous system MP:0003631 9.17 C2CD3 CPLANE1 DDX59 DYNC2I2 OFD1 TCTN3

Drugs & Therapeutics for Orofaciodigital Syndrome Iv

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Iv

Cochrane evidence based reviews: orofaciodigital syndrome 4

Genetic Tests for Orofaciodigital Syndrome Iv

Anatomical Context for Orofaciodigital Syndrome Iv

MalaCards organs/tissues related to Orofaciodigital Syndrome Iv:

40
Tongue, Eye, Lung, Testis

Publications for Orofaciodigital Syndrome Iv

Articles related to Orofaciodigital Syndrome Iv:

(show all 19)
# Title Authors PMID Year
1
TCTN3 mutations cause Mohr-Majewski syndrome. 6 57 61
22883145 2012
2
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. 61 57
2325097 1990
3
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6
26092869 2015
4
Six patients with oral-facial-digital syndrome IV: the case for heterogeneity. 57
9096753 1997
5
Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV. 57
8556824 1995
6
Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV? 57
8116671 1994
7
Orofaciodigital syndrome type IV: report of a patient. 57
1642284 1992
8
Orofaciodigital syndrome type IV: report of a patient. 57
2929654 1989
9
The orofaciodigital (OFD) syndromes. 57
3712388 1986
10
Orofaciodigital syndrome with mesomelic limb shortening. 57
6748015 1984
11
A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? 57
6842538 1983
12
Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases. 57
7100463 1982
13
Tectonic gene mutations in patients with Joubert syndrome. 61
25118024 2015
14
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome). 61
25587461 2014
15
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. 61
18383484 2008
16
Skeletal dysplasias: 38 prenatal cases. 61
18990981 2008
17
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. 61
17535085 2007
18
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. 61
10422014 1999
19
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. 61
9555586 1998

Variations for Orofaciodigital Syndrome Iv

ClinVar genetic disease variations for Orofaciodigital Syndrome Iv:

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCTN3 Q480* SNV Pathogenic 37056 GRCh37:
GRCh38:
2 TCTN3 TCTN3, 4-BP DEL, NT650 Deletion Pathogenic 37057 GRCh37:
GRCh38:
3 TCTN3 NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) SNV Pathogenic 37058 rs387907273 GRCh37: 10:97442533-97442533
GRCh38: 10:95682776-95682776
4 TCTN3 NM_015631.6(TCTN3):c.564_565AG[1] (p.Glu189fs) Microsatellite Pathogenic 37059 rs793888507 GRCh37: 10:97447409-97447410
GRCh38: 10:95687652-95687653
5 TCTN3 NM_015631.6(TCTN3):c.1346_1347CT[1] (p.Leu450fs) Microsatellite Pathogenic 37060 rs768525869 GRCh37: 10:97442511-97442512
GRCh38: 10:95682754-95682755
6 TCTN3 NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) SNV Pathogenic 208618 rs764091969 GRCh37: 10:97446263-97446263
GRCh38: 10:95686506-95686506
7 TCTN3 NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) SNV Pathogenic 217703 rs745688122 GRCh37: 10:97453654-97453654
GRCh38: 10:95693897-95693897
8 TCTN3 NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) Deletion Pathogenic 649506 rs1589613893 GRCh37: 10:97442431-97442437
GRCh38: 10:95682674-95682680
9 TCTN3 NM_015631.6(TCTN3):c.257-1G>A SNV Pathogenic 816476 rs1589623689 GRCh37: 10:97453234-97453234
GRCh38: 10:95693477-95693477
10 TCTN3 NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter) SNV Likely pathogenic 931147 GRCh37: 10:97423888-97423888
GRCh38: 10:95664131-95664131
11 TCTN3 NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) SNV Uncertain significance 646358 rs762720849 GRCh37: 10:97446835-97446835
GRCh38: 10:95687078-95687078
12 TCTN3 NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) SNV Uncertain significance 473271 rs200705429 GRCh37: 10:97442885-97442885
GRCh38: 10:95683128-95683128
13 TCTN3 NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) SNV Uncertain significance 540482 rs1555270274 GRCh37: 10:97447012-97447012
GRCh38: 10:95687255-95687255
14 TCTN3 NM_015631.6(TCTN3):c.606A>G (p.Gln202=) SNV Uncertain significance 941728 GRCh37: 10:97447370-97447370
GRCh38: 10:95687613-95687613
15 TCTN3 NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) SNV Uncertain significance 949481 GRCh37: 10:97446884-97446884
GRCh38: 10:95687127-95687127
16 TCTN3 NM_015631.6(TCTN3):c.499+5G>T SNV Uncertain significance 1000037 GRCh37: 10:97452672-97452672
GRCh38: 10:95692915-95692915
17 TCTN3 NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) SNV Uncertain significance 1005652 GRCh37: 10:97443305-97443305
GRCh38: 10:95683548-95683548
18 TCTN3 NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) SNV Uncertain significance 1013694 GRCh37: 10:97423907-97423907
GRCh38: 10:95664150-95664150
19 TCTN3 NM_015631.6(TCTN3):c.1299-3T>C SNV Uncertain significance 1027989 GRCh37: 10:97442564-97442564
GRCh38: 10:95682807-95682807
20 TCTN3 NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) SNV Uncertain significance 242345 rs749447795 GRCh37: 10:97453207-97453207
GRCh38: 10:95693450-95693450
21 TCTN3 NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) SNV Uncertain significance 641338 rs768285987 GRCh37: 10:97443286-97443286
GRCh38: 10:95683529-95683529
22 TCTN3 NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) SNV Likely benign 391622 rs768137956 GRCh37: 10:97440244-97440244
GRCh38: 10:95680487-95680487
23 TCTN3 NM_015631.6(TCTN3):c.153A>G (p.Ser51=) SNV Likely benign 511205 rs937027387 GRCh37: 10:97453504-97453504
GRCh38: 10:95693747-95693747
24 TCTN3 NM_015631.6(TCTN3):c.280T>C (p.Leu94=) SNV Likely benign 260668 rs367982164 GRCh37: 10:97453210-97453210
GRCh38: 10:95693453-95693453
25 TCTN3 NM_015631.6(TCTN3):c.1764C>T (p.Val588=) SNV Likely benign 386676 rs137856303 GRCh37: 10:97423884-97423884
GRCh38: 10:95664127-95664127
26 TCTN3 NM_015631.6(TCTN3):c.9C>A (p.Thr3=) SNV Likely benign 540483 rs1471002377 GRCh37: 10:97453648-97453648
GRCh38: 10:95693891-95693891
27 TCTN3 NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) SNV Likely benign 540484 rs200042949 GRCh37: 10:97445336-97445336
GRCh38: 10:95685579-95685579
28 TCTN3 NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) SNV Likely benign 712234 rs34474203 GRCh37: 10:97442543-97442543
GRCh38: 10:95682786-95682786
29 TCTN3 NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) SNV Likely benign 383719 rs144543830 GRCh37: 10:97442435-97442435
GRCh38: 10:95682678-95682678
30 TCTN3 NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) SNV Benign 506607 rs138495428 GRCh37: 10:97453446-97453446
GRCh38: 10:95693689-95693689
31 TCTN3 NM_015631.6(TCTN3):c.630T>C (p.Ala210=) SNV Benign 130578 rs41299157 GRCh37: 10:97447110-97447110
GRCh38: 10:95687353-95687353
32 TCTN3 NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) SNV Benign 130579 rs55859130 GRCh37: 10:97445357-97445357
GRCh38: 10:95685600-95685600
33 TCTN3 NM_015631.6(TCTN3):c.889-8G>A SNV Benign 515128 rs374331871 GRCh37: 10:97445401-97445401
GRCh38: 10:95685644-95685644
34 TCTN3 NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) SNV Benign 212392 rs41291570 GRCh37: 10:97453433-97453433
GRCh38: 10:95693676-95693676
35 TCTN3 NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) SNV Benign 212390 rs141088838 GRCh37: 10:97444321-97444321
GRCh38: 10:95684564-95684564
36 TCTN3 NM_015631.6(TCTN3):c.1591-5C>T SNV Benign 499913 rs181107730 GRCh37: 10:97424062-97424062
GRCh38: 10:95664305-95664305
37 TCTN3 NM_015631.6(TCTN3):c.21G>A (p.Ala7=) SNV Benign 260667 rs61737888 GRCh37: 10:97453636-97453636
GRCh38: 10:95693879-95693879
38 TCTN3 NM_015631.6(TCTN3):c.500-6T>C SNV Benign 506786 rs201444392 GRCh37: 10:97447482-97447482
GRCh38: 10:95687725-95687725

Expression for Orofaciodigital Syndrome Iv

Search GEO for disease gene expression data for Orofaciodigital Syndrome Iv.

Pathways for Orofaciodigital Syndrome Iv

GO Terms for Orofaciodigital Syndrome Iv

Cellular components related to Orofaciodigital Syndrome Iv according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 TMEM216 OFD1 DYNC2I2 DYNC2I1 CSPP1 C2CD3
2 centrosome GO:0005813 9.72 OFD1 DYNC2I2 DYNC2I1 CSPP1 C2CD3
3 microtubule organizing center GO:0005815 9.71 OFD1 DYNC2I2 DYNC2I1 CSPP1
4 ciliary basal body GO:0036064 9.65 OFD1 DYNC2I2 C2CD3
5 centriole GO:0005814 9.63 OFD1 DYNC2I2 C2CD3
6 ciliary membrane GO:0060170 9.52 TMEM231 TCTN3
7 ciliary tip GO:0097542 9.51 DYNC2I2 DYNC2I1
8 cell projection GO:0042995 9.5 TMEM231 TMEM216 OFD1 DYNC2I2 DYNC2I1 CPLANE1
9 cytoplasmic dynein complex GO:0005868 9.49 DYNC2I2 DYNC2I1
10 MKS complex GO:0036038 9.43 TMEM231 TMEM216
11 ciliary transition zone GO:0035869 9.33 TMEM231 TMEM216 CPLANE1
12 ciliary plasm GO:0097014 9.26 DYNC2I2 DYNC2I1
13 cilium GO:0005929 9.1 TMEM231 TMEM216 OFD1 DYNC2I2 DYNC2I1 CPLANE1

Biological processes related to Orofaciodigital Syndrome Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.5 TMEM231 TMEM216 TCTN3 OFD1 DYNC2I1 CPLANE1
2 microtubule-based movement GO:0007018 9.48 DYNC2I2 DYNC2I1
3 smoothened signaling pathway GO:0007224 9.46 TMEM231 TCTN3
4 ciliary basal body-plasma membrane docking GO:0097711 9.46 TMEM216 TCTN3 OFD1 C2CD3
5 non-motile cilium assembly GO:1905515 9.43 TMEM216 C2CD3
6 embryonic digit morphogenesis GO:0042733 9.43 TMEM231 CPLANE1 C2CD3
7 intraciliary transport involved in cilium assembly GO:0035735 9.4 DYNC2I2 DYNC2I1
8 intraciliary transport GO:0042073 9.37 DYNC2I2 DYNC2I1
9 intraciliary retrograde transport GO:0035721 9.32 DYNC2I2 DYNC2I1
10 cilium assembly GO:0060271 9.23 TMEM231 TMEM216 TCTN3 OFD1 DYNC2I2 DYNC2I1

Molecular functions related to Orofaciodigital Syndrome Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein heavy chain binding GO:0045504 8.96 DYNC2I2 DYNC2I1
2 dynein light chain binding GO:0045503 8.62 DYNC2I2 DYNC2I1

Sources for Orofaciodigital Syndrome Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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