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 72 70
Varadi-Papp Syndrome 57 12 73 58 72
Ofd6 57 12 20 58 72
Joubert Syndrome with Orofaciodigital Defect 12 20 58 15
Orofaciodigital Syndrome Type 6 20 58 29 6
Varadi Syndrome 57 12 58 72
Orofaciodigital Syndrome 6 20 72 44
Polydactyly, Cleft Lip/palate or Lingual Lump, and Psychomotor Retardation 57 72
Polydactyly-Cleft Lip/palate-Psychomotor Retardation Syndrome 20 58
Polydactyly Cleft Lip Palate Psychomotor Retardation 12 20
Oral-Facial-Digital Syndrome, Type Vi 57 72
Oral-Facial-Digital Syndrome Type 6 20 58
Ofds Vi 57 72
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 72
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 20-May-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: 2754 Definition Joubert 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. Epidemiology Prevalence is unknown. Clinical description Typical 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. Etiology Two 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 counseling Males and females are equally affected and an autosomal recessive pattern of inheritance was observed in familial cases.

MalaCards based summary : Orofaciodigital Syndrome Vi, also known as varadi-papp syndrome, is related to orofaciodigital syndrome iii and polydactyly. 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 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 polydactyly 30.7 TMEM67 OFD1 KIF7 CPLANE1 CC2D2A
3 orofaciodigital syndrome v 30.5 TMEM231 TCTN3 OFD1 DDX59 CPLANE1 C2CD3
4 ciliopathy 30.4 TMEM67 TMEM231 RPGRIP1L KIF7 CC2D2A C2CD3
5 holoprosencephaly 30.3 TMEM216 TCTN3 TCTN2 TCTN1 KIF7
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 29.1 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 meckel syndrome, type 7 10.3 TMEM231 TMEM216 CC2D2A
19 encephalocele 10.3 TMEM67 CPLANE1 CC2D2A
20 cleft lip/palate 10.3
21 renal-hepatic-pancreatic dysplasia 10.3 OFD1 NPHP1 KIF7
22 congenital hepatic fibrosis 10.3 TMEM67 RPGRIP1L CC2D2A
23 hypotonia 10.3
24 arima syndrome 10.3 TMEM231 TMEM216 CC2D2A
25 cogan syndrome 10.3 RPGRIP1L NPHP1 CC2D2A
26 cystic kidney disease 10.3 TMEM67 OFD1 NPHP1 CC2D2A
27 joubert syndrome 20 10.3 TMEM231 TMEM17
28 endocrine-cerebroosteodysplasia 10.3 TMEM80 KIF7
29 nephronophthisis 16 10.3 TMEM67 RPGRIP1L NPHP1
30 ellis-van creveld syndrome 10.3 TMEM216 RPGRIP1L OFD1
31 joubert syndrome 9 10.3 TMEM67 TMEM216 RPGRIP1L CC2D2A
32 joubert syndrome 14 10.3 TMEM80 TMEM231 TMEM216 TMEM17
33 nephronophthisis 18 10.3 NPHP1 C2CD3
34 retinitis pigmentosa 54 10.2 TMEM231 CC2D2A
35 bardet-biedl syndrome 1 10.2 TMEM67 TMEM216 NPHP1 KIF7
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 acrocallosal syndrome 10.2 TMEM216 TCTN3 RPGRIP1L NPHP1 KIF7
41 polycystic kidney disease 1 with or without polycystic liver disease 10.2 TMEM67 RPGRIP1L OFD1 NPHP1
42 joubert syndrome 15 10.2 TMEM231 RPGRIP1L NPHP1 KIF7 CC2D2A
43 joubert syndrome 6 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
44 johanson-blizzard syndrome 10.2 TMEM231 TMEM216 TCTN3 RPGRIP1L CPLANE1 CC2D2A
45 nephronophthisis 15 10.2 NPHP1 C2CD3
46 nephronophthisis 11 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
47 joubert syndrome 7 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
48 meckel syndrome, type 8 10.2 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A
49 nephronophthisis 19 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 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 20-May-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 20-May-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, Kidney, Liver, Pituitary

Publications for Orofaciodigital Syndrome Vi

Articles related to Orofaciodigital Syndrome Vi:

(show all 42)
# Title Authors PMID Year
1
C5orf42 is the major gene responsible for OFD syndrome type VI. 6 57
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
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 6
28125082 2017
5
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 6
28289185 2017
6
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 6
28431631 2017
7
Molecular genetic analysis of 30 families with Joubert syndrome. 6
27434533 2016
8
Joubert syndrome: genotyping a Northern European patient cohort. 6
25920555 2016
9
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 57
26595381 2016
10
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 6
25846457 2015
11
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6
26092869 2015
12
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 6
25407461 2015
13
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 6
24884629 2014
14
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 6
24166846 2014
15
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 6
24091540 2013
16
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 57
23459408 2013
17
TCTN3 mutations cause Mohr-Majewski syndrome. 6
22883145 2012
18
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 6
22353940 2012
19
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 6
22425360 2012
20
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 57
20512146 2010
21
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 6
19800048 2009
22
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 6
18546297 2008
23
Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). 57
9557892 1998
24
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
25
Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). 57
8092188 1994
26
Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. 57
8256802 1993
27
Oral-facial-digital syndromes, 1992. 57
8281288 1993
28
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
29
Twin fetuses with abnormalities that overlap with three midline malformation complexes. 57
1785640 1991
30
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 57
2309783 1990
31
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. 57
3608220 1987
32
Mohr syndrome in two siblings. 57
6663289 1983
33
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
34
The Mohr syndrome: are there two variants? 57
6352094 1983
35
Joubert-Boltshauser syndrome with polydactyly in siblings. 57
7131000 1982
36
Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. 57
7381865 1980
37
Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). 57
5146584 1971
38
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. 61
29605658 2018
39
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. 61
26982032 2016
40
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. 61
27081551 2015
41
[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI]. 61
16265870 2005
42
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 172)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OFD1 NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) Deletion Pathogenic 35485 rs398122866 GRCh37: X:13764925-13764942
GRCh38: X:13746806-13746823
2 TCTN3 NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) SNV Pathogenic 37061 rs793888508 GRCh37: 10:97445342-97445342
GRCh38: 10:95685585-95685585
3 PDE6D NM_002601.4(PDE6D):c.140-1G>A SNV Pathogenic 100773 rs587777156 GRCh37: 2:232602849-232602849
GRCh38: 2:231738139-231738139
4 CPLANE1 NM_023073.3(CPLANE1):c.3150-1G>T SNV Pathogenic 157512 rs606231258 GRCh37: 5:37205557-37205557
GRCh38: 5:37205455-37205455
5 CPLANE1 NM_023073.3(CPLANE1):c.493del (p.Ile165fs) Deletion Pathogenic 157513 rs606231259 GRCh37: 5:37244554-37244554
GRCh38: 5:37244452-37244452
6 CPLANE1 NM_023073.3(CPLANE1):c.3290-2A>G SNV Pathogenic 157514 rs606231260 GRCh37: 5:37201912-37201912
GRCh38: 5:37201810-37201810
7 CPLANE1 NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) SNV Pathogenic 157515 rs375009168 GRCh37: 5:37201820-37201820
GRCh38: 5:37201718-37201718
8 CPLANE1 NM_023073.3(CPLANE1):c.3859G>C (p.Asp1287His) SNV Pathogenic 157516 rs606231261 GRCh37: 5:37187897-37187897
GRCh38: 5:37187795-37187795
9 TCTN3 NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) SNV Pathogenic 217703 rs745688122 GRCh37: 10:97453654-97453654
GRCh38: 10:95693897-95693897
10 OFD1 NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) SNV Pathogenic 217686 rs863225212 GRCh37: X:13785314-13785314
GRCh38: X:13767195-13767195
11 OFD1 NM_003611.3(OFD1):c.149A>G (p.His50Arg) SNV Pathogenic 217687 rs863225213 GRCh37: X:13754634-13754634
GRCh38: X:13736515-13736515
12 OFD1 NM_003611.3(OFD1):c.277G>T (p.Val93Phe) SNV Pathogenic 217685 rs863225211 GRCh37: X:13754762-13754762
GRCh38: X:13736643-13736643
13 OFD1 NM_003611.3(OFD1):c.2767del (p.Glu923fs) Deletion Pathogenic 11545 rs312262894 GRCh37: X:13786182-13786182
GRCh38: X:13768063-13768063
14 OFD1 NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) Deletion Pathogenic 11544 rs312262895 GRCh37: X:13786256-13786262
GRCh38: X:13768137-13768143
15 OFD1 NM_003611.3(OFD1):c.400_403del (p.Glu134fs) Deletion Pathogenic 41117 rs312262830 GRCh37: X:13757136-13757139
GRCh38: X:13739017-13739020
16 CPLANE1 NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) Deletion Pathogenic 217590 rs777686211 GRCh37: 5:37226878-37226878
GRCh38: 5:37226776-37226776
17 CPLANE1 NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) SNV Pathogenic 217575 rs749523755 GRCh37: 5:37157912-37157912
GRCh38: 5:37157810-37157810
18 CPLANE1 NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) SNV Pathogenic 265062 rs149170427 GRCh37: 5:37198899-37198899
GRCh38: 5:37198797-37198797
19 CPLANE1 NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) Insertion Pathogenic 217565 rs1554064102 GRCh37: 5:37148318-37148319
GRCh38: 5:37148216-37148217
20 CPLANE1 NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter) SNV Pathogenic 537711 rs1345413118 GRCh37: 5:37125357-37125357
GRCh38: 5:37125255-37125255
21 CPLANE1 NM_023073.3(CPLANE1):c.493del (p.Ile165fs) Deletion Pathogenic 157513 rs606231259 GRCh37: 5:37244554-37244554
GRCh38: 5:37244452-37244452
22 CPLANE1 NM_023073.3(CPLANE1):c.8263del (p.Thr2755fs) Deletion Pathogenic 567531 rs775263897 GRCh37: 5:37148319-37148319
GRCh38: 5:37148217-37148217
23 CPLANE1 NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs) Deletion Pathogenic 569087 rs1561584225 GRCh37: 5:37201793-37201793
GRCh38: 5:37201691-37201691
24 CPLANE1 NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs) Deletion Pathogenic 569663 rs1187142382 GRCh37: 5:37238989-37238990
GRCh38: 5:37238887-37238888
25 CPLANE1 NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter) SNV Pathogenic 570888 rs957588958 GRCh37: 5:37239940-37239940
GRCh38: 5:37239838-37239838
26 CPLANE1 NM_023073.3(CPLANE1):c.3405_3406CT[1] (p.Ser1136fs) Microsatellite Pathogenic 570974 rs1228082731 GRCh37: 5:37201792-37201793
GRCh38: 5:37201690-37201691
27 CPLANE1 NM_023073.3(CPLANE1):c.8471-1G>C SNV Pathogenic 575938 rs1561376123 GRCh37: 5:37139473-37139473
GRCh38: 5:37139371-37139371
28 CPLANE1 NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter) SNV Pathogenic 577935 rs1381740657 GRCh37: 5:37169426-37169426
GRCh38: 5:37169324-37169324
29 CPLANE1 NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs) Duplication Pathogenic 578049 rs1561655920 GRCh37: 5:37224379-37224380
GRCh38: 5:37224277-37224278
30 CPLANE1 NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) SNV Pathogenic 31223 rs139675596 GRCh37: 5:37165697-37165697
GRCh38: 5:37165595-37165595
31 CPLANE1 NM_023073.3(CPLANE1):c.7400+1G>A SNV Pathogenic 31220 rs367543062 GRCh37: 5:37167148-37167148
GRCh38: 5:37167046-37167046
32 CPLANE1 NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) SNV Pathogenic 392297 rs755097302 GRCh37: 5:37227771-37227771
GRCh38: 5:37227669-37227669
33 CPLANE1 NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) SNV Pathogenic 217569 rs374144275 GRCh37: 5:37120408-37120408
GRCh38: 5:37120306-37120306
34 TCTN3 NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) SNV Pathogenic 217703 rs745688122 GRCh37: 10:97453654-97453654
GRCh38: 10:95693897-95693897
35 TCTN3 NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) Deletion Pathogenic 649506 rs1589613893 GRCh37: 10:97442431-97442437
GRCh38: 10:95682674-95682680
36 OFD1 NM_003611.3(OFD1):c.400_403del (p.Glu134fs) Deletion Pathogenic 41117 rs312262830 GRCh37: X:13757136-13757139
GRCh38: X:13739017-13739020
37 CPLANE1 NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) SNV Pathogenic 217575 rs749523755 GRCh37: 5:37157912-37157912
GRCh38: 5:37157810-37157810
38 CPLANE1 NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) Deletion Pathogenic 217590 rs777686211 GRCh37: 5:37226878-37226878
GRCh38: 5:37226776-37226776
39 OFD1 NM_003611.3(OFD1):c.599T>C (p.Leu200Pro) SNV Pathogenic 978060 GRCh37: X:13764519-13764519
GRCh38: X:13746400-13746400
40 CPLANE1 NM_023073.3(CPLANE1):c.5557C>T (p.Gln1853Ter) SNV Pathogenic 838000 GRCh37: 5:37180972-37180972
GRCh38: 5:37180870-37180870
41 CPLANE1 NM_023073.3(CPLANE1):c.7978C>T (p.Arg2660Ter) SNV Pathogenic 217566 rs147416429 GRCh37: 5:37154075-37154075
GRCh38: 5:37153973-37153973
42 PDE6D NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) Insertion Pathogenic/Likely pathogenic 590801 rs1559307932 GRCh37: 2:232601900-232601901
GRCh38: 2:231737190-231737191
43 PDE6D NM_002601.4(PDE6D):c.257del (p.Cys86fs) Deletion Likely pathogenic 917951 GRCh37: 2:232602731-232602731
GRCh38: 2:231738021-231738021
44 CPLANE1 NM_023073.3(CPLANE1):c.677+1G>C SNV Likely pathogenic 579431 rs1414913269 GRCh37: 5:37243114-37243114
GRCh38: 5:37243012-37243012
45 CPLANE1 NM_023073.3(CPLANE1):c.7588+1G>A SNV Likely pathogenic 566116 rs1561458987 GRCh37: 5:37164374-37164374
GRCh38: 5:37164272-37164272
46 CPLANE1 NM_023073.3(CPLANE1):c.570+2T>A SNV Likely pathogenic 566970 rs1321423759 GRCh37: 5:37244475-37244475
GRCh38: 5:37244373-37244373
47 CPLANE1 NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg) SNV Likely pathogenic 224854 rs869312898 GRCh37: 5:37187562-37187562
GRCh38: 5:37187460-37187460
48 CPLANE1 NM_023073.3(CPLANE1):c.2080A>G (p.Met694Val) SNV Likely pathogenic 375324 rs1057519066 GRCh37: 5:37226617-37226617
GRCh38: 5:37226515-37226515
49 OFD1 NM_003611.3(OFD1):c.2387+1G>A SNV Likely pathogenic 976442 GRCh37: X:13779331-13779331
GRCh38: X:13761212-13761212
50 OFD1 NM_003611.3(OFD1):c.3G>A (p.Met1Ile) SNV Uncertain significance 1031340 GRCh37: X:13753193-13753193
GRCh38: X:13735074-13735074

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

72
# 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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