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 56 12 73 71
Varadi-Papp Syndrome 56 12 74 58 73
Ofd6 56 12 52 58 73
Joubert Syndrome with Orofaciodigital Defect 12 52 58 15
Orofaciodigital Syndrome Type 6 52 58 29 6
Varadi Syndrome 56 12 58 73
Orofaciodigital Syndrome 6 52 73 43
Polydactyly, Cleft Lip/palate or Lingual Lump, and Psychomotor Retardation 56 73
Polydactyly-Cleft Lip/palate-Psychomotor Retardation Syndrome 52 58
Polydactyly Cleft Lip Palate Psychomotor Retardation 12 52
Oral-Facial-Digital Syndrome, Type Vi 56 73
Oral-Facial-Digital Syndrome Type 6 52 58
Ofds Vi 56 73
Polydactyly - Cleft Lip/palate - Psychomotor Retardation 52
Joubert Syndrome with Oral-Facial-Digital Syndrome 58
Orofaciodigital Syndrome, Type Vi 39
Oral-Facial-Digital Syndrome 6 73
Váradi-Papp Syndrome 52
Váradi Syndrome 52

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:

56
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

NIH Rare Diseases : 52 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. 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 i. 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, brain and eye, and related phenotypes are intellectual disability and global developmental delay

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

OMIM : 56 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)

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), meaning 'many', and δάκτυλος (daktylos), meaning... 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 114)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome iii 31.0 TMEM231 OFD1
2 orofaciodigital syndrome i 30.9 TMEM17 OFD1
3 ciliopathy 30.8 TMEM67 TMEM231 RPGRIP1L KIF7 C2CD3
4 cerebellar hypoplasia 30.7 TMEM67 RPGRIP1L CC2D2A
5 orofaciodigital syndrome v 30.5 TMEM231 TCTN3 TCTN1 OFD1 DDX59 C2CD3
6 pallister-hall syndrome 30.4 TMEM216 KIF7
7 meningocele 30.4 TMEM67 C2CD3
8 orofaciodigital syndrome 29.6 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN1
9 joubert syndrome 1 29.6 TMEM67 TMEM231 TMEM216 TCTN3 TCTN2 TCTN1
10 meckel syndrome, type 1 29.0 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN2
11 joubert syndrome 36 11.4
12 orofacial cleft 6 11.2
13 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.6
14 inguinal hernia 10.5
15 patau syndrome 10.5
16 chromosomal triplication 10.5
17 meckel syndrome, type 7 10.5 TMEM216 CC2D2A
18 arima syndrome 10.4 TMEM231 TMEM216 CC2D2A
19 bardet-biedl syndrome 1 10.4 TMEM216 NPHP1 KIF7
20 joubert syndrome 15 10.4 RPGRIP1L NPHP1
21 renal-hepatic-pancreatic dysplasia 10.4 OFD1 NPHP1 KIF7
22 encephalocele 10.4 TMEM67 CC2D2A
23 congenital hepatic fibrosis 10.4 TMEM67 RPGRIP1L CC2D2A
24 oligohydramnios 10.4 TMEM67 TMEM231 CC2D2A
25 ellis-van creveld syndrome 10.3 TMEM216 RPGRIP1L OFD1
26 nephronophthisis 19 10.3 TMEM67 RPGRIP1L NPHP1
27 joubert syndrome 20 10.3 TMEM231 TMEM17
28 nephronophthisis 16 10.3 TMEM67 RPGRIP1L NPHP1
29 endocrine-cerebroosteodysplasia 10.3 TMEM80 KIF7
30 joubert syndrome 14 10.3 TMEM80 TMEM231 TMEM216 TMEM17
31 tukel syndrome 10.3
32 monocular esotropia 10.3
33 scleritis 10.3
34 heart septal defect 10.3
35 atrial heart septal defect 10.3
36 esotropia 10.3
37 cleft lip/palate 10.3
38 bardet-biedl syndrome 14 10.3 TMEM67 TMEM216 RPGRIP1L CC2D2A
39 acrocallosal syndrome 10.3 TMEM216 TCTN3 RPGRIP1L OFD1 KIF7
40 nephronophthisis 18 10.3 NPHP1 C2CD3
41 nephronophthisis 9 10.3 TMEM67 TMEM216 RPGRIP1L NPHP1
42 nephronophthisis 7 10.3 TMEM67 RPGRIP1L NPHP1 CC2D2A
43 joubert syndrome 24 10.3 TMEM231 TCTN2 RPGRIP1L NPHP1
44 orofaciodigital syndrome iv 10.3 TMEM216 TCTN3 OFD1 DDX59 C2CD3
45 meningioma, familial 10.2 RPGRIP1L KIF7 KIAA0753 C2CD3
46 polydactyly 10.2
47 joubert syndrome 6 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
48 nephronophthisis 15 10.2 NPHP1 C2CD3
49 johanson-blizzard syndrome 10.2 TMEM231 TMEM216 TCTN3 RPGRIP1L CPLANE1 CC2D2A
50 nephronophthisis 11 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A

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 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
8 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
9 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
10 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
11 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
12 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
13 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
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 muscular hypotonia 58 31 Frequent (79-30%) HP:0001252

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
nystagmus
esotropia
epicanthal folds

Growth Other:
failure to thrive

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

Growth Height:
short stature

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

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Vi:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 C2CD3 CC2D2A CPLANE1 KIF7 NPHP1 OFD1
2 embryo MP:0005380 10.22 C2CD3 CC2D2A CPLANE1 DDX59 KIAA0753 KIF7
3 cardiovascular system MP:0005385 10.19 C2CD3 CC2D2A CPLANE1 KIF7 OFD1 RPGRIP1L
4 growth/size/body region MP:0005378 10.11 C2CD3 CC2D2A CPLANE1 DDX59 KIAA0753 KIF7
5 limbs/digits/tail MP:0005371 10.06 C2CD3 CC2D2A CPLANE1 KIF7 OFD1 RPGRIP1L
6 mortality/aging MP:0010768 10.03 C2CD3 CC2D2A CPLANE1 DDX59 KIAA0753 KIF7
7 craniofacial MP:0005382 10 CC2D2A CPLANE1 KIF7 OFD1 RPGRIP1L TCTN2
8 digestive/alimentary MP:0005381 9.98 CC2D2A CPLANE1 KIF7 OFD1 RPGRIP1L TCTN2
9 nervous system MP:0003631 9.97 C2CD3 CC2D2A CPLANE1 KIF7 NPHP1 OFD1
10 renal/urinary system MP:0005367 9.5 CC2D2A CPLANE1 DDX59 NPHP1 OFD1 RPGRIP1L
11 vision/eye MP:0005391 9.28 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, Brain, Eye, Bone, 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. 56 6
24178751 2014
2
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. 6 56
23523602 2013
3
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 56
26595381 2016
4
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 6
24166846 2014
5
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 56
23459408 2013
6
TCTN3 mutations cause Mohr-Majewski syndrome. 6
22883145 2012
7
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 6
22353940 2012
8
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
9
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 56
20512146 2010
10
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 6
19800048 2009
11
Joubert Syndrome 6
20301500 2003
12
Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). 56
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? 56
7645593 1995
14
Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). 56
8092188 1994
15
Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. 56
8256802 1993
16
Oral-facial-digital syndromes, 1992. 56
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. 56
1776653 1991
18
Twin fetuses with abnormalities that overlap with three midline malformation complexes. 56
1785640 1991
19
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 56
2309783 1990
20
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. 56
3608220 1987
21
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? 56
6686259 1983
22
Mohr syndrome in two siblings. 56
6663289 1983
23
The Mohr syndrome: are there two variants? 56
6352094 1983
24
Joubert-Boltshauser syndrome with polydactyly in siblings. 56
7131000 1982
25
Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. 56
7381865 1980
26
Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). 56
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 111) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPLANE1 NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter)SNV Pathogenic 537711 rs1345413118 5:37125357-37125357 5:37125255-37125255
2 CPLANE1 NM_023073.3(CPLANE1):c.3405_3406CT[1] (p.Ser1136fs)short repeat Pathogenic 570974 rs1228082731 5:37201792-37201793 5:37201690-37201691
3 CPLANE1 NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs)deletion Pathogenic 569087 rs1561584225 5:37201793-37201793 5:37201691-37201691
4 CPLANE1 NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs)deletion Pathogenic 569663 rs1187142382 5:37238989-37238990 5:37238887-37238888
5 CPLANE1 NM_023073.3(CPLANE1):c.8471-1G>CSNV Pathogenic 575938 rs1561376123 5:37139473-37139473 5:37139371-37139371
6 CPLANE1 NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs)duplication Pathogenic 578049 rs1561655920 5:37224379-37224380 5:37224277-37224278
7 CPLANE1 NM_023073.3(CPLANE1):c.8263del (p.Thr2755fs)deletion Pathogenic 567531 rs775263897 5:37148319-37148319 5:37148217-37148217
8 CPLANE1 NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter)SNV Pathogenic 570888 rs957588958 5:37239940-37239940 5:37239838-37239838
9 CPLANE1 NM_023073.3(CPLANE1):c.7400+1G>ASNV Pathogenic 31220 rs367543062 5:37167148-37167148 5:37167046-37167046
10 CPLANE1 NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter)SNV Pathogenic 31223 rs139675596 5:37165697-37165697 5:37165595-37165595
11 CPLANE1 NM_023073.3(CPLANE1):c.3150-1G>TSNV Pathogenic 157512 rs606231258 5:37205557-37205557 5:37205455-37205455
12 CPLANE1 NM_023073.3(CPLANE1):c.493del (p.Ile165fs)deletion Pathogenic 157513 rs606231259 5:37244554-37244554 5:37244452-37244452
13 CPLANE1 NM_023073.3(CPLANE1):c.3290-2A>GSNV Pathogenic 157514 rs606231260 5:37201912-37201912 5:37201810-37201810
14 CPLANE1 NM_023073.3(CPLANE1):c.3859G>C (p.Asp1287His)SNV Pathogenic 157516 rs606231261 5:37187897-37187897 5:37187795-37187795
15 CPLANE1 NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter)SNV Pathogenic 217569 rs374144275 5:37120408-37120408 5:37120306-37120306
16 CPLANE1 NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs)insertion Pathogenic 217565 rs1554064102 5:37148318-37148319 5:37148216-37148217
17 CPLANE1 NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter)SNV Pathogenic 217575 rs749523755 5:37157912-37157912 5:37157810-37157810
18 CPLANE1 NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter)SNV Pathogenic 392297 rs755097302 5:37227771-37227771 5:37227669-37227669
19 CPLANE1 NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs)deletion Pathogenic/Likely pathogenic 217590 rs777686211 5:37226878-37226878 5:37226776-37226776
20 CPLANE1 NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys)SNV Pathogenic/Likely pathogenic 265062 rs149170427 5:37198899-37198899 5:37198797-37198797
21 CPLANE1 NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg)SNV Likely pathogenic 224854 rs869312898 5:37187562-37187562 5:37187460-37187460
22 CPLANE1 NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu)SNV Likely pathogenic 157515 rs375009168 5:37201820-37201820 5:37201718-37201718
23 CPLANE1 NM_023073.3(CPLANE1):c.677+1G>CSNV Likely pathogenic 579431 rs1414913269 5:37243114-37243114 5:37243012-37243012
24 CPLANE1 NM_023073.3(CPLANE1):c.570+2T>ASNV Likely pathogenic 566970 rs1321423759 5:37244475-37244475 5:37244373-37244373
25 CPLANE1 NM_023073.3(CPLANE1):c.7588+1G>ASNV Likely pathogenic 566116 rs1561458987 5:37164374-37164374 5:37164272-37164272
26 CPLANE1 NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter)SNV Conflicting interpretations of pathogenicity 577935 rs1381740657 5:37169426-37169426 5:37169324-37169324
27 CPLANE1 NM_023073.3(CPLANE1):c.8901C>T (p.Tyr2967=)SNV Conflicting interpretations of pathogenicity 771587 5:37121841-37121841 5:37121739-37121739
28 CPLANE1 NM_023073.3(CPLANE1):c.4074C>T (p.Ile1358=)SNV Conflicting interpretations of pathogenicity 771563 5:37187522-37187522 5:37187420-37187420
29 CPLANE1 NM_023073.3(CPLANE1):c.4953A>G (p.Val1651=)SNV Conflicting interpretations of pathogenicity 789368 5:37183330-37183330 5:37183228-37183228
30 CPLANE1 NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=)SNV Conflicting interpretations of pathogenicity 158041 rs149313666 5:37182862-37182862 5:37182760-37182760
31 CPLANE1 NM_023073.3(CPLANE1):c.3381G>C (p.Ser1127=)SNV Conflicting interpretations of pathogenicity 194985 rs566190241 5:37201819-37201819 5:37201717-37201717
32 CPLANE1 NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=)SNV Conflicting interpretations of pathogenicity 195696 rs145520487 5:37187928-37187928 5:37187826-37187826
33 CPLANE1 NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=)SNV Conflicting interpretations of pathogenicity 196711 rs34161326 5:37176061-37176061 5:37175959-37175959
34 CPLANE1 NM_023073.3(CPLANE1):c.8013A>C (p.Ala2671=)SNV Conflicting interpretations of pathogenicity 261676 rs201122718 5:37154040-37154040 5:37153938-37153938
35 CPLANE1 NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile)SNV Conflicting interpretations of pathogenicity 261673 rs142777778 5:37182954-37182954 5:37182852-37182852
36 CPLANE1 NM_023073.3(CPLANE1):c.4403C>G (p.Ser1468Cys)SNV Conflicting interpretations of pathogenicity 261671 rs150556877 5:37184968-37184968 5:37184866-37184866
37 CPLANE1 NM_023073.3(CPLANE1):c.1755A>G (p.Ser585=)SNV Conflicting interpretations of pathogenicity 261667 rs186970259 5:37226942-37226942 5:37226840-37226840
38 CPLANE1 NM_023073.3(CPLANE1):c.1736C>T (p.Ala579Val)SNV Conflicting interpretations of pathogenicity 261666 rs191239995 5:37226961-37226961 5:37226859-37226859
39 CPLANE1 NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys)SNV Conflicting interpretations of pathogenicity 217592 rs756856188 5:37244623-37244623 5:37244521-37244521
40 CPLANE1 NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val)SNV Conflicting interpretations of pathogenicity 217591 rs141153181 5:37198877-37198877 5:37198775-37198775
41 CPLANE1 NM_023073.3(CPLANE1):c.7099A>G (p.Lys2367Glu)SNV Conflicting interpretations of pathogenicity 353440 rs778278672 5:37169027-37169027 5:37168925-37168925
42 CPLANE1 NM_023073.3(CPLANE1):c.8628C>T (p.Ser2876=)SNV Conflicting interpretations of pathogenicity 210554 rs148005445 5:37138824-37138824 5:37138722-37138722
43 CPLANE1 NM_023073.3(CPLANE1):c.9252G>A (p.Pro3084=)SNV Conflicting interpretations of pathogenicity 388936 rs377707922 5:37108560-37108560 5:37108458-37108458
44 CPLANE1 NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro)SNV Conflicting interpretations of pathogenicity 353438 rs372655878 5:37167251-37167251 5:37167149-37167149
45 CPLANE1 NM_023073.3(CPLANE1):c.1680G>A (p.Glu560=)SNV Conflicting interpretations of pathogenicity 353460 rs749473632 5:37227017-37227017 5:37226915-37226915
46 CPLANE1 NM_023073.3(CPLANE1):c.8931A>G (p.Ser2977=)SNV Conflicting interpretations of pathogenicity 353417 rs141014620 5:37121811-37121811 5:37121709-37121709
47 CPLANE1 NM_023073.3(CPLANE1):c.4954C>T (p.Leu1652=)SNV Conflicting interpretations of pathogenicity 353449 rs141109938 5:37183329-37183329 5:37183227-37183227
48 CPLANE1 NM_023073.3(CPLANE1):c.626A>G (p.Lys209Arg)SNV Uncertain significance 353467 rs770630520 5:37243166-37243166 5:37243064-37243064
49 CPLANE1 NM_023073.3(CPLANE1):c.4892C>T (p.Ser1631Leu)SNV Uncertain significance 389868 rs748759724 5:37183391-37183391 5:37183289-37183289
50 CPLANE1 NM_023073.3(CPLANE1):c.6158T>A (p.Phe2053Tyr)SNV Uncertain significance 392966 rs189493985 5:37173870-37173870 5:37173768-37173768

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 10.32 TXLNB TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 cytoskeleton GO:0005856 10.1 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L PDE6D
3 centrosome GO:0005813 9.83 TMEM67 RPGRIP1L OFD1 KIAA0753 C2CD3
4 ciliary transition zone GO:0035869 9.81 TMEM80 TMEM67 TMEM231 TMEM216 TMEM17 TCTN1
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 9.73 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 9.63 OFD1 KIAA0753 C2CD3
11 cell projection GO:0042995 9.5 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 non-motile cilium assembly GO:1905515 9.73 TMEM80 TMEM216 TMEM17 RPGRIP1L CC2D2A C2CD3
5 cilium assembly GO:0060271 9.73 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN2
6 camera-type eye development GO:0043010 9.63 TMEM231 RPGRIP1L CC2D2A
7 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 CPLANE1 CC2D2A
8 embryonic digit morphogenesis GO:0042733 9.61 TMEM231 CPLANE1 C2CD3
9 regulation of smoothened signaling pathway GO:0008589 9.58 TCTN1 RPGRIP1L C2CD3
10 telencephalon development GO:0021537 9.55 TCTN1 RPGRIP1L
11 axoneme assembly GO:0035082 9.54 OFD1 CC2D2A
12 protein localization to centrosome GO:0071539 9.52 KIAA0753 C2CD3
13 centriole replication GO:0007099 9.51 OFD1 KIAA0753
14 establishment of planar polarity GO:0001736 9.49 RPGRIP1L CPLANE1
15 cell projection organization GO:0030030 9.4 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN2

Sources for Orofaciodigital Syndrome Vi

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