OFD6
MCID: ORF034
MIFTS: 55

Orofaciodigital Syndrome Vi (OFD6)

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 Vi

MalaCards integrated aliases for Orofaciodigital Syndrome Vi:

Name: Orofaciodigital Syndrome Vi 57 12 73 71
Varadi-Papp Syndrome 57 12 74 58 73
Ofd6 57 12 20 58 73
Joubert Syndrome with Orofaciodigital Defect 12 20 58 15
Orofaciodigital Syndrome Type 6 20 58 29 6
Varadi Syndrome 57 12 58 73
Orofaciodigital Syndrome 6 20 73 44
Polydactyly, Cleft Lip/palate or Lingual Lump, and Psychomotor Retardation 57 73
Polydactyly-Cleft Lip/palate-Psychomotor Retardation Syndrome 20 58
Polydactyly Cleft Lip Palate Psychomotor Retardation 12 20
Oral-Facial-Digital Syndrome, Type Vi 57 73
Oral-Facial-Digital Syndrome Type 6 20 58
Ofds Vi 57 73
Polydactyly - Cleft Lip/palate - Psychomotor Retardation 20
Joubert Syndrome with Oral-Facial-Digital Syndrome 58
Orofaciodigital Syndrome, Type Vi 39
Oral-Facial-Digital Syndrome 6 73
Váradi-Papp Syndrome 20
Váradi Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 6
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

31
orofaciodigital syndrome vi:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Orofaciodigital Syndrome Vi

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2754DefinitionJoubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.EpidemiologyPrevalence is unknown.Clinical descriptionTypical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. Polydactyly is typically mesaxial with Y-shaped metacarpals, but can also be preaxial or postaxial. A subset of patients present with hypothalamic hamartoma that has never been reported in other JSRD subgroups.EtiologyTwo OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216 gene (11q13.1), but mutations in this gene were excluded in several other patients, and the genetic basis of this condition still remains elusive.Genetic counselingMales and females are equally affected and an autosomal recessive pattern of inheritance was observed in familial cases.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Vi, also known as varadi-papp syndrome, is related to orofaciodigital syndrome iii and orofaciodigital syndrome v. An important gene associated with Orofaciodigital Syndrome Vi is CPLANE1 (Ciliogenesis And Planar Polarity Effector 1), 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 brain, and related phenotypes are intellectual disability and failure to thrive

Disease Ontology : 12 A Joubert syndrome that is characterized by orofaciodigital defect.

OMIM® : 57 Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014). (277170) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Orofaciodigital syndrome 6: 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. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch.

Wikipedia : 74 Polydactyly or polydactylism (from Greek πολύς (polys) 'many', and δάκτυλος (daktylos) 'finger'), also... more...

Related Diseases for Orofaciodigital Syndrome Vi

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 Vi via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome iii 30.8 TMEM231 OFD1
2 orofaciodigital syndrome v 30.5 TMEM231 TCTN3 OFD1 DDX59 CPLANE1 C2CD3
3 ciliopathy 30.3 TMEM67 TMEM231 RPGRIP1L KIF7 CPLANE1 CC2D2A
4 holoprosencephaly 30.3 TMEM216 TCTN3 TCTN2 TCTN1 KIF7
5 polydactyly 30.1 TMEM67 TMEM231 TMEM216 TCTN3 TCTN2 RPGRIP1L
6 orofaciodigital syndrome 29.9 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN1
7 joubert syndrome 1 29.8 TMEM67 TMEM231 TMEM216 TCTN3 TCTN2 TCTN1
8 meckel syndrome, type 1 29.0 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN2
9 joubert syndrome 36 11.2
10 orofacial cleft 6 10.9
11 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.6
12 inguinal hernia 10.5
13 patau syndrome 10.5
14 chromosomal triplication 10.5
15 orofaciodigital syndrome i 10.5 TMEM17 OFD1
16 retinitis pigmentosa 34 10.4 PDE6D OFD1
17 rhyns syndrome 10.3 TMEM67 TMEM231
18 nephronophthisis 1 10.3 RPGRIP1L NPHP1 CC2D2A
19 meckel syndrome, type 7 10.3 TMEM231 TMEM216 CC2D2A
20 encephalocele 10.3 TMEM67 CPLANE1 CC2D2A
21 cleft lip/palate 10.3
22 renal-hepatic-pancreatic dysplasia 10.3 OFD1 NPHP1 KIF7
23 congenital hepatic fibrosis 10.3 TMEM67 RPGRIP1L CC2D2A
24 hypotonia 10.3
25 cogan syndrome 10.3 RPGRIP1L NPHP1 CC2D2A
26 arima syndrome 10.3 TMEM231 TMEM216 CC2D2A
27 joubert syndrome 20 10.3 TMEM231 TMEM17
28 endocrine-cerebroosteodysplasia 10.3 TMEM80 KIF7
29 nephronophthisis 19 10.3 TMEM67 RPGRIP1L NPHP1
30 nephronophthisis 16 10.3 TMEM67 RPGRIP1L NPHP1
31 ellis-van creveld syndrome 10.3 TMEM216 RPGRIP1L OFD1
32 joubert syndrome 9 10.3 TMEM67 TMEM216 RPGRIP1L CC2D2A
33 nephronophthisis 18 10.3 NPHP1 C2CD3
34 bardet-biedl syndrome 1 10.2 TMEM67 TMEM216 NPHP1 KIF7
35 retinitis pigmentosa 54 10.2 TMEM231 CC2D2A
36 bardet-biedl syndrome 14 10.2 TMEM67 TMEM216 RPGRIP1L CC2D2A
37 nephronophthisis 9 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1
38 nephronophthisis 7 10.2 TMEM67 RPGRIP1L NPHP1 CC2D2A
39 joubert syndrome 24 10.2 TMEM231 TCTN2 RPGRIP1L NPHP1
40 cystic kidney disease 10.2 TMEM67 RPGRIP1L OFD1 NPHP1 CC2D2A
41 acrocallosal syndrome 10.2 TMEM216 TCTN3 RPGRIP1L NPHP1 KIF7
42 polycystic kidney disease 1 with or without polycystic liver disease 10.2 TMEM67 RPGRIP1L OFD1 NPHP1
43 joubert syndrome 15 10.2 TMEM231 RPGRIP1L NPHP1 KIF7 CC2D2A
44 joubert syndrome 6 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
45 johanson-blizzard syndrome 10.2 TMEM231 TMEM216 TCTN3 RPGRIP1L CPLANE1 CC2D2A
46 nephronophthisis 15 10.2 NPHP1 C2CD3
47 nephronophthisis 11 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
48 joubert syndrome 7 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
49 meckel syndrome, type 8 10.2 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A
50 glioma susceptibility 1 10.2

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



Diseases related to Orofaciodigital Syndrome Vi

Symptoms & Phenotypes for Orofaciodigital Syndrome Vi

Human phenotypes related to Orofaciodigital Syndrome Vi:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
3 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
6 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
7 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
8 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
9 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
12 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
13 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
14 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
15 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
16 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
17 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
18 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
19 abnormal oral frenulum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000190
20 molar tooth sign on mri 58 31 frequent (33%) Frequent (79-30%) HP:0002419
21 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
22 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
23 hypoplasia of olfactory tract 58 31 frequent (33%) Frequent (79-30%) HP:0007036
24 hamartoma of tongue 58 31 frequent (33%) Frequent (79-30%) HP:0011802
25 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
26 lobulated tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000180
27 tongue nodules 58 31 frequent (33%) Frequent (79-30%) HP:0000199
28 bilateral cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0008689
29 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
30 syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001159
31 preaxial polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0100258
32 epicanthus 31 frequent (33%) HP:0000286
33 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
34 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
35 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
36 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
37 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
38 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
39 abnormality of neuronal migration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002269
40 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
41 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
42 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
43 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
44 episodic tachypnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002876
45 mesoaxial polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100260
46 hypothalamic hamartoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002444
47 central y-shaped metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0006145
48 midline notch of upper alveolar ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0009084
49 seizure 31 occasional (7.5%) HP:0001250
50 seizures 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Growth Height:
short stature

Head And Neck Face:
micrognathia

Skeletal Hands:
brachydactyly
clinodactyly
syndactyly
preaxial polydactyly
mesoaxial polydactyly
more
Genitourinary Kidneys:
renal agenesis
renal dysplasia

Skeletal Feet:
syndactyly
preaxial polydactyly

Head And Neck Eyes:
nystagmus
hypertelorism
esotropia
epicanthal folds

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate
intraoral frenula
lobed tongue
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears
conductive hearing loss

Neurologic Central Nervous System:
cerebellar vermis hypoplasia
hypothalamic hamartoma
hypotonia
developmental delay
mental retardation
more
Head And Neck Nose:
broad nasal tip

Clinical features from OMIM®:

277170 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 C2CD3 CC2D2A CPLANE1 KIF7 NPHP1 OFD1
2 cardiovascular system MP:0005385 10.16 C2CD3 CC2D2A CPLANE1 KIF7 OFD1 RPGRIP1L
3 embryo MP:0005380 10.13 C2CD3 CC2D2A CPLANE1 DDX59 KIAA0753 KIF7
4 craniofacial MP:0005382 10.06 CC2D2A CPLANE1 KIAA0753 KIF7 OFD1 RPGRIP1L
5 growth/size/body region MP:0005378 10.03 C2CD3 CC2D2A CPLANE1 DDX59 KIAA0753 KIF7
6 digestive/alimentary MP:0005381 9.91 CC2D2A CPLANE1 KIF7 OFD1 RPGRIP1L TCTN2
7 limbs/digits/tail MP:0005371 9.9 C2CD3 CC2D2A CPLANE1 KIF7 OFD1 RPGRIP1L
8 nervous system MP:0003631 9.8 C2CD3 CC2D2A CPLANE1 DDX59 KIF7 NPHP1
9 vision/eye MP:0005391 9.32 CC2D2A CPLANE1 KIF7 NPHP1 PDE6D RPGRIP1L

Drugs & Therapeutics for Orofaciodigital Syndrome Vi

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Vi

Cochrane evidence based reviews: orofaciodigital syndrome 6

Genetic Tests for Orofaciodigital Syndrome Vi

Genetic tests related to Orofaciodigital Syndrome Vi:

# Genetic test Affiliating Genes
1 Orofaciodigital Syndrome Type 6 29 CPLANE1

Anatomical Context for Orofaciodigital Syndrome Vi

MalaCards organs/tissues related to Orofaciodigital Syndrome Vi:

40
Tongue, Eye, Brain, Heart, Pituitary

Publications for Orofaciodigital Syndrome Vi

Articles related to Orofaciodigital Syndrome Vi:

(show all 31)
# Title Authors PMID Year
1
C5orf42 is the major gene responsible for OFD syndrome type VI. 57 6
24178751 2014
2
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. 57 6
23523602 2013
3
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). 6
30423442 2019
4
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 57
26595381 2016
5
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 6
25846457 2015
6
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 6
24166846 2014
7
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 57
23459408 2013
8
TCTN3 mutations cause Mohr-Majewski syndrome. 6
22883145 2012
9
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 6
22353940 2012
10
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 57
20512146 2010
11
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 6
19800048 2009
12
Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). 57
9557892 1998
13
Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS? 57
7645593 1995
14
Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). 57
8092188 1994
15
Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. 57
8256802 1993
16
Oral-facial-digital syndromes, 1992. 57
8281288 1993
17
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. 57
1776653 1991
18
Twin fetuses with abnormalities that overlap with three midline malformation complexes. 57
1785640 1991
19
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 57
2309783 1990
20
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. 57
3608220 1987
21
Mohr syndrome in two siblings. 57
6663289 1983
22
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? 57
6686259 1983
23
The Mohr syndrome: are there two variants? 57
6352094 1983
24
Joubert-Boltshauser syndrome with polydactyly in siblings. 57
7131000 1982
25
Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. 57
7381865 1980
26
Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). 57
5146584 1971
27
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. 61
29605658 2018
28
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. 61
26982032 2016
29
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. 61
27081551 2015
30
[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI]. 61
16265870 2005
31
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? 61
10051020 1999

Variations for Orofaciodigital Syndrome Vi

ClinVar genetic disease variations for Orofaciodigital Syndrome Vi:

6 (show top 50) (show all 163)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OFD1 NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) Deletion Pathogenic 35485 rs398122866 X:13764925-13764942 X:13746806-13746823
2 TCTN3 NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) SNV Pathogenic 37061 rs793888508 10:97445342-97445342 10:95685585-95685585
3 PDE6D NM_002601.4(PDE6D):c.140-1G>A SNV Pathogenic 100773 rs587777156 2:232602849-232602849 2:231738139-231738139
4 CPLANE1 NM_023073.3(CPLANE1):c.3150-1G>T SNV Pathogenic 157512 rs606231258 5:37205557-37205557 5:37205455-37205455
5 CPLANE1 NM_023073.3(CPLANE1):c.493del (p.Ile165fs) Deletion Pathogenic 157513 rs606231259 5:37244554-37244554 5:37244452-37244452
6 CPLANE1 NM_023073.3(CPLANE1):c.3290-2A>G SNV Pathogenic 157514 rs606231260 5:37201912-37201912 5:37201810-37201810
7 CPLANE1 NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) SNV Pathogenic 157515 rs375009168 5:37201820-37201820 5:37201718-37201718
8 CPLANE1 NM_023073.3(CPLANE1):c.3859G>C (p.Asp1287His) SNV Pathogenic 157516 rs606231261 5:37187897-37187897 5:37187795-37187795
9 TCTN3 NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) SNV Pathogenic 217703 rs745688122 10:97453654-97453654 10:95693897-95693897
10 OFD1 NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) SNV Pathogenic 217686 rs863225212 X:13785314-13785314 X:13767195-13767195
11 OFD1 NM_003611.3(OFD1):c.149A>G (p.His50Arg) SNV Pathogenic 217687 rs863225213 X:13754634-13754634 X:13736515-13736515
12 OFD1 NM_003611.3(OFD1):c.277G>T (p.Val93Phe) SNV Pathogenic 217685 rs863225211 X:13754762-13754762 X:13736643-13736643
13 OFD1 NM_003611.3(OFD1):c.400_403del (p.Glu134fs) Deletion Pathogenic 41117 rs312262830 X:13757136-13757139 X:13739017-13739020
14 CPLANE1 NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) Deletion Pathogenic 217590 rs777686211 5:37226878-37226878 5:37226776-37226776
15 CPLANE1 NM_023073.3(CPLANE1):c.8263del (p.Thr2755fs) Deletion Pathogenic 567531 rs775263897 5:37148319-37148319 5:37148217-37148217
16 CPLANE1 NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs) Deletion Pathogenic 569087 rs1561584225 5:37201793-37201793 5:37201691-37201691
17 CPLANE1 NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter) SNV Pathogenic 570888 rs957588958 5:37239940-37239940 5:37239838-37239838
18 CPLANE1 NM_023073.3(CPLANE1):c.3405_3406CT[1] (p.Ser1136fs) Microsatellite Pathogenic 570974 rs1228082731 5:37201792-37201793 5:37201690-37201691
19 CPLANE1 NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) SNV Pathogenic 392297 rs755097302 5:37227771-37227771 5:37227669-37227669
20 CPLANE1 NM_023073.3(CPLANE1):c.8471-1G>C SNV Pathogenic 575938 rs1561376123 5:37139473-37139473 5:37139371-37139371
21 CPLANE1 NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter) SNV Pathogenic 577935 rs1381740657 5:37169426-37169426 5:37169324-37169324
22 CPLANE1 NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs) Duplication Pathogenic 578049 rs1561655920 5:37224379-37224380 5:37224277-37224278
23 CPLANE1 NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) SNV Pathogenic 217569 rs374144275 5:37120408-37120408 5:37120306-37120306
24 CPLANE1 NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) SNV Pathogenic 31223 rs139675596 5:37165697-37165697 5:37165595-37165595
25 CPLANE1 NM_023073.3(CPLANE1):c.7400+1G>A SNV Pathogenic 31220 rs367543062 5:37167148-37167148 5:37167046-37167046
26 TCTN3 NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) Deletion Pathogenic 649506 rs1589613893 10:97442431-97442437 10:95682674-95682680
27 OFD1 NM_003611.3(OFD1):c.400_403del (p.Glu134fs) Deletion Pathogenic 41117 rs312262830 X:13757136-13757139 X:13739017-13739020
28 TCTN3 NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) SNV Pathogenic 217703 rs745688122 10:97453654-97453654 10:95693897-95693897
29 CPLANE1 NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs) Deletion Pathogenic 569663 rs1187142382 5:37238989-37238990 5:37238887-37238888
30 CPLANE1 NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter) SNV Pathogenic 537711 rs1345413118 5:37125357-37125357 5:37125255-37125255
31 CPLANE1 NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) Insertion Pathogenic 217565 rs1554064102 5:37148318-37148319 5:37148216-37148217
32 CPLANE1 NM_023073.3(CPLANE1):c.493del (p.Ile165fs) Deletion Pathogenic 157513 rs606231259 5:37244554-37244554 5:37244452-37244452
33 CPLANE1 NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) SNV Pathogenic 265062 rs149170427 5:37198899-37198899 5:37198797-37198797
34 CPLANE1 NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) SNV Pathogenic 217575 rs749523755 5:37157912-37157912 5:37157810-37157810
35 OFD1 NM_003611.3(OFD1):c.2767del (p.Glu923fs) Deletion Pathogenic 11545 rs312262894 X:13786182-13786182 X:13768063-13768063
36 OFD1 NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) Deletion Pathogenic 11544 rs312262895 X:13786256-13786262 X:13768137-13768143
37 CPLANE1 NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) SNV Pathogenic 217575 rs749523755 5:37157912-37157912 5:37157810-37157810
38 CPLANE1 NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) Deletion Pathogenic 217590 rs777686211 5:37226878-37226878 5:37226776-37226776
39 OFD1 NM_003611.3(OFD1):c.599T>C (p.Leu200Pro) SNV Pathogenic 978060 X:13764519-13764519 X:13746400-13746400
40 PDE6D NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) Insertion Pathogenic/Likely pathogenic 590801 rs1559307932 2:232601900-232601901 2:231737190-231737191
41 CPLANE1 NM_023073.3(CPLANE1):c.677+1G>C SNV Likely pathogenic 579431 rs1414913269 5:37243114-37243114 5:37243012-37243012
42 CPLANE1 NM_023073.3(CPLANE1):c.7588+1G>A SNV Likely pathogenic 566116 rs1561458987 5:37164374-37164374 5:37164272-37164272
43 CPLANE1 NM_023073.3(CPLANE1):c.570+2T>A SNV Likely pathogenic 566970 rs1321423759 5:37244475-37244475 5:37244373-37244373
44 CPLANE1 NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg) SNV Likely pathogenic 224854 rs869312898 5:37187562-37187562 5:37187460-37187460
45 CPLANE1 NM_023073.3(CPLANE1):c.2080A>G (p.Met694Val) SNV Likely pathogenic 375324 rs1057519066 5:37226617-37226617 5:37226515-37226515
46 PDE6D NM_002601.4(PDE6D):c.257del (p.Cys86fs) Deletion Likely pathogenic 917951 2:232602731-232602731 2:231738021-231738021
47 OFD1 NM_003611.3(OFD1):c.2387+1G>A SNV Likely pathogenic 976442 X:13779331-13779331 X:13761212-13761212
48 CPLANE1 NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) SNV Uncertain significance 279719 rs533310477 5:37226858-37226858 5:37226756-37226756
49 CPLANE1 NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) SNV Uncertain significance 353418 rs116198390 5:37122533-37122533 5:37122431-37122431
50 CPLANE1 NM_023073.3(CPLANE1):c.9101A>T (p.His3034Leu) SNV Uncertain significance 940841 5:37120365-37120365 5:37120263-37120263

UniProtKB/Swiss-Prot genetic disease variations for Orofaciodigital Syndrome Vi:

73
# Symbol AA change Variation ID SNP ID
1 CPLANE1 p.Val2837Leu VAR_072544
2 CPLANE1 p.Ser1127Leu VAR_072553 rs375009168
3 CPLANE1 p.Arg1184Cys VAR_072554 rs143463125
4 CPLANE1 p.Arg1193Cys VAR_072555 rs149170427
5 CPLANE1 p.Asp1287His VAR_072556 rs606231261
6 CPLANE1 p.Gln1345Arg VAR_076779 rs869312898

Expression for Orofaciodigital Syndrome Vi

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

Pathways for Orofaciodigital Syndrome Vi

GO Terms for Orofaciodigital Syndrome Vi

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.3 TXLNB TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 cytoskeleton GO:0005856 10.1 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L PDE6D
3 ciliary transition zone GO:0035869 9.85 TMEM80 TMEM67 TMEM231 TMEM216 TMEM17 TCTN2
4 centrosome GO:0005813 9.83 TMEM67 RPGRIP1L OFD1 KIAA0753 C2CD3
5 MKS complex GO:0036038 9.8 TMEM67 TMEM231 TMEM216 TMEM17 TCTN2 TCTN1
6 ciliary membrane GO:0060170 9.77 TMEM67 TMEM231 TMEM17 TCTN3 TCTN2
7 cilium GO:0005929 9.77 TMEM80 TMEM67 TMEM231 TMEM216 TMEM17 RPGRIP1L
8 ciliary basal body GO:0036064 9.71 RPGRIP1L OFD1 KIF7 C2CD3
9 centriole GO:0005814 9.67 OFD1 KIAA0753 C2CD3
10 centriolar satellite GO:0034451 9.65 OFD1 KIAA0753 C2CD3
11 cell projection GO:0042995 9.53 TMEM80 TMEM67 TMEM231 TMEM216 TMEM17 TCTN2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 TMEM216 TCTN3 TCTN2 TCTN1 RPGRIP1L
2 in utero embryonic development GO:0001701 9.78 TMEM231 TCTN1 RPGRIP1L C2CD3
3 smoothened signaling pathway GO:0007224 9.77 TMEM231 TMEM17 TCTN3 TCTN2 CC2D2A
4 cilium assembly GO:0060271 9.77 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN2
5 non-motile cilium assembly GO:1905515 9.73 TMEM80 TMEM216 TMEM17 RPGRIP1L CC2D2A C2CD3
6 kidney development GO:0001822 9.71 RPGRIP1L CPLANE1 CC2D2A
7 camera-type eye development GO:0043010 9.63 TMEM231 RPGRIP1L CC2D2A
8 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 CPLANE1 CC2D2A
9 embryonic digit morphogenesis GO:0042733 9.61 TMEM231 CPLANE1 C2CD3
10 regulation of smoothened signaling pathway GO:0008589 9.58 TCTN1 RPGRIP1L C2CD3
11 telencephalon development GO:0021537 9.55 TCTN1 RPGRIP1L
12 centriole replication GO:0007099 9.52 OFD1 KIAA0753
13 protein localization to centrosome GO:0071539 9.51 KIAA0753 C2CD3
14 establishment of planar polarity GO:0001736 9.49 RPGRIP1L CPLANE1
15 cell projection organization GO:0030030 9.44 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN2

Sources for Orofaciodigital Syndrome Vi

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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