OFD6
MCID: ORF034
MIFTS: 52

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 74 72
Orofaciodigital Syndrome 6 53 74 29 6 44
Varadi-Papp Syndrome 57 12 75 59 74
Ofd6 57 12 53 59 74
Joubert Syndrome with Orofaciodigital Defect 12 53 59 15
Varadi Syndrome 57 12 59 74
Polydactyly, Cleft Lip/palate or Lingual Lump, and Psychomotor Retardation 57 74
Polydactyly-Cleft Lip/palate-Psychomotor Retardation Syndrome 53 59
Polydactyly Cleft Lip Palate Psychomotor Retardation 12 53
Oral-Facial-Digital Syndrome, Type Vi 57 74
Oral-Facial-Digital Syndrome Type 6 53 59
Orofaciodigital Syndrome Type 6 53 59
Ofds Vi 57 74
Polydactyly - Cleft Lip/palate - Psychomotor Retardation 53
Joubert Syndrome with Oral-Facial-Digital Syndrome 59
Orofaciodigital Syndrome, Type Vi 40
Oral-Facial-Digital Syndrome 6 74
Váradi-Papp Syndrome 53
Váradi Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
orofaciodigital syndrome type 6
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
orofaciodigital syndrome vi:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060376
NCIt 50 C124841
ICD10 via Orphanet 34 Q04.3
UMLS via Orphanet 73 C2745997
Orphanet 59 ORPHA2754
MedGen 42 C2745997
UMLS 72 C2745997

Summaries for Orofaciodigital Syndrome Vi

NIH Rare Diseases : 53 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 orofaciodigital syndrome 6, is related to orofaciodigital syndrome 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 heart, and related phenotypes are hypertelorism and frontal bossing

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)

UniProtKB/Swiss-Prot : 74 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 : 75 Polydactyly or polydactylism (from Greek ????? (polys), meaning 'many', and ???????? (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 67)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome 30.7 TCTN3 OFD1 KIAA0753 CPLANE1
2 orofaciodigital syndrome i 30.5 OFD1 CEP290
3 meckel syndrome, type 1 25.0 TMEM80 TMEM231 TMEM218 TMEM216 TMEM138 TCTN3
4 joubert syndrome 1 23.5 TMEM80 TMEM231 TMEM218 TMEM216 TMEM17 TMEM138
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.6
6 inguinal hernia 10.5
7 patau syndrome 10.5
8 chromosomal triplication 10.5
9 joubert syndrome 17 10.3 CPLANE1 CEP290
10 cleft lip/palate 10.3
11 occipital encephalocele 10.3 TCTN3 CEP290
12 tukel syndrome 10.3
13 monocular esotropia 10.3
14 scleritis 10.3
15 heart septal defect 10.3
16 atrial heart septal defect 10.3
17 esotropia 10.3
18 simpson-golabi-behmel syndrome, type 2 10.3 OFD1 CEP290
19 polydactyly 10.2
20 joubert syndrome 14 10.2 TMEM216 RPGRIP1L
21 hypertelorism 10.2
22 pallister-hall syndrome 10.2
23 orofaciodigital syndrome v 10.2
24 cerebellar hypoplasia 10.2
25 hydrolethalus syndrome 1 10.2
26 hypothalamic hamartomas 10.2
27 orofaciodigital syndrome iii 10.2
28 orofaciodigital syndrome ix 10.2
29 orofaciodigital syndrome vii 10.2
30 alacrima, achalasia, and mental retardation syndrome 10.2
31 autosomal recessive disease 10.2
32 astrocytoma 10.2
33 dandy-walker complex 10.2
34 growth hormone deficiency 10.2
35 pilocytic astrocytoma 10.2
36 precocious puberty 10.2
37 ciliopathy 10.2
38 meckel syndrome, type 5 10.1 TMEM138 RPGRIP1L
39 polydactyly, postaxial, type a1 10.1
40 strabismus 10.1
41 cryptorchidism, unilateral or bilateral 10.1
42 pseudovaginal perineoscrotal hypospadias 10.1
43 kearns-sayre syndrome 10.1
44 holoprosencephaly 10.1
45 cleft lip 10.1
46 mechanical strabismus 10.1
47 hypopituitarism 10.1
48 semilobar holoprosencephaly 10.1
49 central polydactyly 10.1
50 meckel syndrome, type 4 10.1 TMEM231 TMEM138 CEP290

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:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
7 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
8 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
9 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
12 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
13 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
14 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
15 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
16 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
17 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
18 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
19 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
20 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
21 abnormal oral frenulum morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000190
22 bilateral cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0008689
23 finger clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0040019
24 molar tooth sign on mri 59 32 frequent (33%) Frequent (79-30%) HP:0002419
25 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
26 hypoplasia of olfactory tract 59 32 frequent (33%) Frequent (79-30%) HP:0007036
27 syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001159
28 hamartoma of tongue 59 32 frequent (33%) Frequent (79-30%) HP:0011802
29 preaxial polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0100258
30 lobulated tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000180
31 tongue nodules 59 32 frequent (33%) Frequent (79-30%) HP:0000199
32 epicanthus 32 frequent (33%) HP:0000286
33 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
34 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
35 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
36 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
37 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
38 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
39 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
40 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
41 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
42 abnormal heart morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001627
43 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
44 cerebellar vermis hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001320
45 episodic tachypnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002876
46 hypothalamic hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002444
47 mesoaxial polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0100260
48 central y-shaped metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0006145
49 midline notch of upper alveolar ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0009084
50 muscular hypotonia 59 32 Frequent (79-30%) HP:0001252

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
nystagmus
esotropia
epicanthal folds

Skeletal Hands:
clinodactyly
brachydactyly
syndactyly
preaxial polydactyly
mesoaxial polydactyly
more
Growth Height:
short stature

Head And Neck Face:
micrognathia

Genitourinary Kidneys:
renal agenesis
renal dysplasia

Skeletal Feet:
syndactyly
preaxial polydactyly

Head And Neck Ears:
low-set ears
posteriorly rotated ears
conductive hearing loss

Growth Other:
failure to thrive

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate
intraoral frenula
lobed tongue
more
Head And Neck Nose:
broad nasal tip

Neurologic Central Nervous System:
cerebellar vermis hypoplasia
hypothalamic hamartoma
developmental delay
hypotonia
mental retardation
more

Clinical features from OMIM:

277170

GenomeRNAi Phenotypes related to Orofaciodigital Syndrome Vi according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 9.02 CDKL1 CDKL2 CDKL3
2 Decreased substrate adherent cell growth GR00193-A-4 9.02 CDKL1 CDKL2

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.76 ARL13B CPLANE1 KIAA0753 KIF7 OFD1 RPGRIP1L
2 limbs/digits/tail MP:0005371 9.43 CPLANE1 KIF7 OFD1 RPGRIP1L TCTN1 TMEM231
3 renal/urinary system MP:0005367 9.1 ARL13B CEP290 CPLANE1 OFD1 RPGRIP1L TMEM218

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 6 29 CPLANE1

Anatomical Context for Orofaciodigital Syndrome Vi

MalaCards organs/tissues related to Orofaciodigital Syndrome Vi:

41
Tongue, Brain, Heart, Bone, Eye, 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. 8 71
24178751 2014
2
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. 8 71
23523602 2013
3
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 8
26595381 2016
4
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 71
24166846 2014
5
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 8
23459408 2013
6
TCTN3 mutations cause Mohr-Majewski syndrome. 71
22883145 2012
7
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 71
22353940 2012
8
Clinical utility gene card for: Joubert syndrome. 71
21448235 2011
9
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 8
20512146 2010
10
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 71
19800048 2009
11
Joubert Syndrome 71
20301500 2003
12
Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). 8
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? 8
7645593 1995
14
Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). 8
8092188 1994
15
Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. 8
8256802 1993
16
Oral-facial-digital syndromes, 1992. 8
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. 8
1776653 1991
18
Twin fetuses with abnormalities that overlap with three midline malformation complexes. 8
1785640 1991
19
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 8
2309783 1990
20
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. 8
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? 8
6686259 1983
22
Mohr syndrome in two siblings. 8
6663289 1983
23
The Mohr syndrome: are there two variants? 8
6352094 1983
24
Joubert-Boltshauser syndrome with polydactyly in siblings. 8
7131000 1982
25
Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. 8
7381865 1980
26
Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). 8
5146584 1971
27
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. 38
29605658 2018
28
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. 38
26982032 2016
29
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. 38
27081551 2015
30
[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI]. 38
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? 38
10051020 1999

Variations for Orofaciodigital Syndrome Vi

ClinVar genetic disease variations for Orofaciodigital Syndrome Vi:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CPLANE1 NM_023073.3(CPLANE1): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs755097302 5:37227771-37227771 5:37227669-37227669
2 CPLANE1 NM_023073.3(CPLANE1): c.8785A> T (p.Arg2929Ter) single nucleotide variant Pathogenic rs1345413118 5:37125357-37125357 5:37125255-37125255
3 CPLANE1 NM_023073.3(CPLANE1): c.7400+1G> A single nucleotide variant Pathogenic rs367543062 5:37167148-37167148 5:37167046-37167046
4 CPLANE1 NM_023073.3(CPLANE1): c.7477C> T (p.Arg2493Ter) single nucleotide variant Pathogenic rs139675596 5:37165697-37165697 5:37165595-37165595
5 CPLANE1 NM_023073.3(CPLANE1): c.3150-1G> T single nucleotide variant Pathogenic rs606231258 5:37205557-37205557 5:37205455-37205455
6 CPLANE1 NM_023073.3(CPLANE1): c.493del (p.Ile165fs) deletion Pathogenic rs606231259 5:37244554-37244554 5:37244452-37244452
7 CPLANE1 NM_023073.3(CPLANE1): c.3290-2A> G single nucleotide variant Pathogenic rs606231260 5:37201912-37201912 5:37201810-37201810
8 CPLANE1 NM_023073.3(CPLANE1): c.3859G> C (p.Asp1287His) single nucleotide variant Pathogenic rs606231261 5:37187897-37187897 5:37187795-37187795
9 CPLANE1 NM_023073.3(CPLANE1): c.9058C> T (p.Arg3020Ter) single nucleotide variant Pathogenic rs374144275 5:37120408-37120408 5:37120306-37120306
10 CPLANE1 NM_023073.3(CPLANE1): c.8263_8264insG (p.Thr2755fs) insertion Pathogenic rs1554064102 5:37148318-37148319 5:37148216-37148217
11 CPLANE1 NM_023073.3(CPLANE1): c.7817T> A (p.Leu2606Ter) single nucleotide variant Pathogenic rs749523755 5:37157912-37157912 5:37157810-37157810
12 CPLANE1 NM_023073.3(CPLANE1): c.1819del (p.Tyr607fs) deletion Pathogenic rs777686211 5:37226878-37226878 5:37226776-37226776
13 CPLANE1 NM_023073.3(CPLANE1): c.3405_3406CT[1] (p.Ser1136fs) short repeat Pathogenic 5:37201792-37201793 5:37201690-37201691
14 CPLANE1 NM_023073.3(CPLANE1): c.3407del (p.Ser1136fs) deletion Pathogenic 5:37201793-37201793 5:37201691-37201691
15 CPLANE1 NM_023073.3(CPLANE1): c.907_908del (p.Lys303fs) deletion Pathogenic 5:37238989-37238990 5:37238887-37238888
16 CPLANE1 NM_023073.3(CPLANE1): c.8471-1G> C single nucleotide variant Pathogenic 5:37139473-37139473 5:37139371-37139371
17 CPLANE1 NM_023073.3(CPLANE1): c.2556dup (p.Ala853fs) duplication Pathogenic 5:37224380-37224380 5:37224278-37224278
18 CPLANE1 NM_023073.3(CPLANE1): c.8263del (p.Thr2755fs) deletion Pathogenic 5:37148319-37148319 5:37148217-37148217
19 CPLANE1 NM_023073.3(CPLANE1): c.709C> T (p.Gln237Ter) single nucleotide variant Pathogenic 5:37239940-37239940 5:37239838-37239838
20 CPLANE1 NM_023073.3(CPLANE1): c.3577C> T (p.Arg1193Cys) single nucleotide variant Pathogenic/Likely pathogenic rs149170427 5:37198899-37198899 5:37198797-37198797
21 CPLANE1 NM_023073.3(CPLANE1): c.4034A> G (p.Gln1345Arg) single nucleotide variant Likely pathogenic rs869312898 5:37187562-37187562 5:37187460-37187460
22 CPLANE1 NM_023073.3(CPLANE1): c.570+2T> A single nucleotide variant Likely pathogenic 5:37244475-37244475 5:37244373-37244373
23 CPLANE1 NM_023073.3(CPLANE1): c.7588+1G> A single nucleotide variant Likely pathogenic 5:37164374-37164374 5:37164272-37164272
24 CPLANE1 NM_023073.3(CPLANE1): c.3380C> T (p.Ser1127Leu) single nucleotide variant Likely pathogenic rs375009168 5:37201820-37201820 5:37201718-37201718
25 CPLANE1 NM_023073.3(CPLANE1): c.677+1G> C single nucleotide variant Likely pathogenic 5:37243114-37243114 5:37243012-37243012
26 CPLANE1 NM_023073.3(CPLANE1): c.4517A> G (p.His1506Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141911199 5:37183766-37183766 5:37183664-37183664
27 CPLANE1 NM_023073.3(CPLANE1): c.3743G> A (p.Gly1248Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72736758 5:37196028-37196028 5:37195926-37195926
28 CPLANE1 NM_023073.3(CPLANE1): c.5421G> A (p.Lys1807=) single nucleotide variant Conflicting interpretations of pathogenicity rs149313666 5:37182862-37182862 5:37182760-37182760
29 CPLANE1 NM_023073.3(CPLANE1): c.8124C> T (p.Asp2708=) single nucleotide variant Conflicting interpretations of pathogenicity rs114126795 5:37153929-37153929 5:37153827-37153827
30 CPLANE1 NM_023073.3(CPLANE1): c.8182C> A (p.Pro2728Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs77014998 5:37153871-37153871 5:37153769-37153769
31 CPLANE1 NM_023073.3(CPLANE1): c.6700C> T (p.Gln2234Ter) single nucleotide variant Conflicting interpretations of pathogenicity 5:37169426-37169426 5:37169324-37169324
32 CPLANE1 NM_023073.3(CPLANE1): c.7234-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs141575785 5:37167322-37167322 5:37167220-37167220
33 CPLANE1 NM_023073.3(CPLANE1): c.8931A> G (p.Ser2977=) single nucleotide variant Conflicting interpretations of pathogenicity rs141014620 5:37121811-37121811 5:37121709-37121709
34 CPLANE1 NM_023073.3(CPLANE1): c.5329G> A (p.Val1777Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142777778 5:37182954-37182954 5:37182852-37182852
35 CPLANE1 NM_023073.3(CPLANE1): c.424G> A (p.Glu142Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs756856188 5:37244623-37244623 5:37244521-37244521
36 CPLANE1 NM_023073.3(CPLANE1): c.5738-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148634159 5:37179551-37179551 5:37179449-37179449
37 CPLANE1 NM_023073.3(CPLANE1): c.6957A> G (p.Gln2319=) single nucleotide variant Conflicting interpretations of pathogenicity rs143147192 5:37169169-37169169 5:37169067-37169067
38 CPLANE1 NM_023073.3(CPLANE1): c.3599C> T (p.Ala1200Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141153181 5:37198877-37198877 5:37198775-37198775
39 CPLANE1 NM_023073.3(CPLANE1): c.1411C> G (p.Leu471Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139940282 5:37227455-37227455 5:37227353-37227353
40 CPLANE1 NM_023073.3(CPLANE1): c.5440A> G (p.Thr1814Ala) single nucleotide variant Uncertain significance rs760844546 5:37181089-37181089 5:37180987-37180987
41 CPLANE1 NM_023073.3(CPLANE1): c.233G> T (p.Gly78Val) single nucleotide variant Uncertain significance rs1554117507 5:37245685-37245685 5:37245583-37245583
42 CPLANE1 NM_023073.3(CPLANE1): c.1839A> C (p.Lys613Asn) single nucleotide variant Uncertain significance rs533310477 5:37226858-37226858 5:37226756-37226756
43 CPLANE1 NM_023073.3(CPLANE1): c.8854A> G (p.Arg2952Gly) single nucleotide variant Uncertain significance rs116198390 5:37122533-37122533 5:37122431-37122431
44 CPLANE1 NM_023073.3(CPLANE1): c.626A> G (p.Lys209Arg) single nucleotide variant Uncertain significance rs770630520 5:37243166-37243166 5:37243064-37243064
45 CPLANE1 NM_023073.3(CPLANE1): c.7829A> T (p.Glu2610Val) single nucleotide variant Uncertain significance 5:37157900-37157900 5:37157798-37157798
46 CPLANE1 NM_023073.3(CPLANE1): c.8516C> T (p.Pro2839Leu) single nucleotide variant Uncertain significance rs147426388 5:37138936-37138936 5:37138834-37138834
47 CPLANE1 NM_023073.3(CPLANE1): c.5570+5G> A single nucleotide variant Uncertain significance 5:37180954-37180954 5:37180852-37180852
48 CPLANE1 NM_023073.3(CPLANE1): c.4132C> T (p.Pro1378Ser) single nucleotide variant Uncertain significance 5:37186445-37186445 5:37186343-37186343
49 CPLANE1 NM_023073.3(CPLANE1): c.7253T> C (p.Ile2418Thr) single nucleotide variant Uncertain significance 5:37167296-37167296 5:37167194-37167194
50 CPLANE1 NM_023073.3(CPLANE1): c.8279C> A (p.Thr2760Asn) single nucleotide variant Uncertain significance 5:37148303-37148303 5:37148201-37148201

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

74
# 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 12)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.85 RPGRIP1L OFD1 KIAA0753 CEP290 CDKL2
2 microtubule organizing center GO:0005815 9.8 RPGRIP1L OFD1 KIAA0753 CEP290
3 ciliary membrane GO:0060170 9.72 TMEM231 TMEM17 TCTN3 ARL13B ARL13A
4 ciliary basal body GO:0036064 9.71 RPGRIP1L OFD1 KIF7 CEP290
5 centriole GO:0005814 9.65 OFD1 KIAA0753 CEP290
6 MKS complex GO:0036038 9.65 TMEM231 TMEM216 TMEM17 TCTN1 CEP290
7 ciliary transition zone GO:0035869 9.61 TMEM80 TMEM231 TMEM216 TMEM17 TCTN1 RPGRIP1L
8 centriolar satellite GO:0034451 9.54 OFD1 KIAA0753 CEP290
9 non-motile cilium GO:0097730 9.51 ARL13B ARL13A
10 cilium GO:0005929 9.44 TMEM231 TMEM218 TMEM216 TMEM17 TMEM138 RPGRIP1L
11 cytoskeleton GO:0005856 10.03 TMEM216 TCTN1 RPGRIP1L PDE6D OFD1 KIF7
12 cell projection GO:0042995 10 TMEM80 TMEM231 TMEM218 TMEM216 TMEM17 TMEM138

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.73 TMEM216 TCTN3 TCTN1 RPGRIP1L OFD1 CEP290
2 regulation of cell cycle GO:0051726 9.69 CDKL3 CDKL2 CDKL1
3 non-motile cilium assembly GO:1905515 9.63 TMEM80 TMEM216 TMEM17 RPGRIP1L ARL13B ARL13A
4 smoothened signaling pathway GO:0007224 9.62 TMEM231 TMEM17 TCTN3 ARL13B
5 cell projection organization GO:0030030 9.61 TMEM231 TMEM216 TMEM17 TMEM138 TCTN3 TCTN1
6 telencephalon development GO:0021537 9.52 TCTN1 RPGRIP1L
7 regulation of smoothened signaling pathway GO:0008589 9.49 TCTN1 RPGRIP1L
8 centriole replication GO:0007099 9.48 OFD1 KIAA0753
9 establishment of planar polarity GO:0001736 9.46 RPGRIP1L CPLANE1
10 receptor localization to non-motile cilium GO:0097500 9.43 ARL13B ARL13A
11 neural tube patterning GO:0021532 9.4 RPGRIP1L ARL13B
12 protein localization to ciliary transition zone GO:1904491 9.37 TCTN1 CPLANE1
13 cilium assembly GO:0060271 9.36 TMEM231 TMEM216 TMEM17 TMEM138 TCTN3 TCTN1

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

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase activity GO:0004693 8.8 CDKL3 CDKL2 CDKL1

Sources for Orofaciodigital Syndrome Vi

3 CDC
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