OFD6
MCID: ORF034
MIFTS: 48

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

Aliases & Classifications for Orofaciodigital Syndrome Vi

MalaCards integrated aliases for Orofaciodigital Syndrome Vi:

Name: Orofaciodigital Syndrome Vi 58 12 76 74
Orofaciodigital Syndrome 6 54 76 30 6 45
Ofd6 58 12 54 60 76
Joubert Syndrome with Orofaciodigital Defect 12 54 60 15
Varadi-Papp Syndrome 58 12 77 76
Varadi Syndrome 58 12 76
Polydactyly, Cleft Lip/palate or Lingual Lump, and Psychomotor Retardation 58 76
Polydactyly-Cleft Lip/palate-Psychomotor Retardation Syndrome 54 60
Polydactyly Cleft Lip Palate Psychomotor Retardation 12 54
Oral-Facial-Digital Syndrome, Type Vi 58 76
Oral-Facial-Digital Syndrome Type 6 54 60
Orofaciodigital Syndrome Type 6 54 60
Váradi-Papp Syndrome 54 60
Váradi Syndrome 54 60
Ofds Vi 58 76
Polydactyly - Cleft Lip/palate - Psychomotor Retardation 54
Joubert Syndrome with Oral-Facial-Digital Syndrome 60
Orofaciodigital Syndrome, Type Vi 41
Oral-Facial-Digital Syndrome 6 76

Characteristics:

Orphanet epidemiological data:

60
orofaciodigital syndrome type 6
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
orofaciodigital syndrome vi:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Vi

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2754Disease definitionJoubert 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 homozygousmutation 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 joubert syndrome 1. 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 bone, and related phenotypes are hypertelorism and frontal bossing

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

OMIM : 58 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 : 76 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 : 77 Polydactyly or polydactylism (from Greek, Modern πολύς (polys), meaning ''many'', and δάκτυλος... 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 all 26)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome 30.3 CPLANE1 KIAA0753 OFD1 TCTN3
2 joubert syndrome 1 25.8 ARL13A ARL13B CDKL3 CEP290 CPLANE1 KIAA0753
3 cleft lip 10.5
4 cleft lip/palate 10.5
5 strabismus 10.3
6 scleritis 10.3
7 mechanical strabismus 10.3
8 osteofibrous dysplasia 10.3
9 joubert syndrome 17 10.2 CEP290 CPLANE1
10 occipital encephalocele 10.2 CEP290 TCTN3
11 orofaciodigital syndrome i 10.2 CEP290 OFD1
12 simpson-golabi-behmel syndrome, type 2 10.2 CEP290 OFD1
13 pallister-hall syndrome 10.2
14 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
15 hydrolethalus syndrome 1 10.2
16 astrocytoma 10.2
17 pilocytic astrocytoma 10.2
18 joubert syndrome 14 10.1 RPGRIP1L TMEM216
19 polydactyly 10.1
20 meckel syndrome, type 5 10.1 RPGRIP1L TMEM138
21 meckel syndrome, type 4 10.0 CEP290 TMEM138 TMEM231
22 meckel syndrome, type 3 9.9 CEP290 RPGRIP1L
23 joubert syndrome with oculorenal anomalies 9.9 CEP290 TMEM138 TMEM216 TMEM231
24 nephronophthisis 11 9.8 CEP290 RPGRIP1L
25 nephronophthisis 9.8 ARL13B CEP290 RPGRIP1L TMEM216
26 meckel syndrome, type 1 7.9 ARL13A ARL13B CEP290 CPLANE1 OFD1 RPGRIP1L

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:

60 33 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
2 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
3 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
4 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
7 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
8 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
9 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
10 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
11 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
12 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
13 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
14 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
15 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
16 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
17 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
18 broad nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000455
19 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
20 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
21 bilateral cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0008689
22 finger clinodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0040019
23 molar tooth sign on mri 60 33 frequent (33%) Frequent (79-30%) HP:0002419
24 esotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000565
25 hypoplasia of olfactory tract 60 33 frequent (33%) Frequent (79-30%) HP:0007036
26 syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001159
27 hamartoma of tongue 60 33 frequent (33%) Frequent (79-30%) HP:0011802
28 lobulated tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000180
29 tongue nodules 60 33 frequent (33%) Frequent (79-30%) HP:0000199
30 preaxial polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0100258
31 epicanthus 33 frequent (33%) HP:0000286
32 abnormal oral frenulum morphology 33 frequent (33%) HP:0000190
33 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
34 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
35 apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002104
36 abnormality of neuronal migration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002269
37 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
38 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
39 foot polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001829
40 highly arched eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0002553
41 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
42 renal agenesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000104
43 cerebellar vermis hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001320
44 episodic tachypnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002876
45 abnormal heart morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001627
46 hypothalamic hamartoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002444
47 central y-shaped metacarpal 60 33 occasional (7.5%) Occasional (29-5%) HP:0006145
48 midline notch of upper alveolar ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0009084
49 mesoaxial polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0100260
50 muscular hypotonia 60 33 Frequent (79-30%) HP:0001252

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
nystagmus
esotropia
epicanthal folds

Skeletal Hands:
clinodactyly
brachydactyly
syndactyly
preaxial polydactyly
central y-shaped metacarpal
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:

27
# 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:

47
# 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 30 CPLANE1

Anatomical Context for Orofaciodigital Syndrome Vi

MalaCards organs/tissues related to Orofaciodigital Syndrome Vi:

42
Tongue, Brain, Bone, Heart, Eye, Pituitary

Publications for Orofaciodigital Syndrome Vi

Articles related to Orofaciodigital Syndrome Vi:

# Title Authors Year
1
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? ( 10051020 )
1999

Variations for Orofaciodigital Syndrome Vi

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

76
# 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

ClinVar genetic disease variations for Orofaciodigital Syndrome Vi:

6 (show top 50) (show all 172)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPLANE1 NM_023073.3(CPLANE1): c.3150-1G> T single nucleotide variant Pathogenic rs606231258 GRCh38 Chromosome 5, 37205455: 37205455
2 CPLANE1 NM_023073.3(CPLANE1): c.3150-1G> T single nucleotide variant Pathogenic rs606231258 GRCh37 Chromosome 5, 37205557: 37205557
3 CPLANE1 NM_023073.3(CPLANE1): c.493delA (p.Ile165Tyrfs) deletion Pathogenic rs606231259 GRCh38 Chromosome 5, 37244452: 37244452
4 CPLANE1 NM_023073.3(CPLANE1): c.493delA (p.Ile165Tyrfs) deletion Pathogenic rs606231259 GRCh37 Chromosome 5, 37244554: 37244554
5 CPLANE1 NM_023073.3(CPLANE1): c.3290-2A> G single nucleotide variant Pathogenic rs606231260 GRCh38 Chromosome 5, 37201810: 37201810
6 CPLANE1 NM_023073.3(CPLANE1): c.3290-2A> G single nucleotide variant Pathogenic rs606231260 GRCh37 Chromosome 5, 37201912: 37201912
7 CPLANE1 NM_023073.3(CPLANE1): c.3380C> T (p.Ser1127Leu) single nucleotide variant Likely pathogenic rs375009168 GRCh38 Chromosome 5, 37201718: 37201718
8 CPLANE1 NM_023073.3(CPLANE1): c.3380C> T (p.Ser1127Leu) single nucleotide variant Likely pathogenic rs375009168 GRCh37 Chromosome 5, 37201820: 37201820
9 CPLANE1 NM_023073.3(CPLANE1): c.3859G> C (p.Asp1287His) single nucleotide variant Pathogenic rs606231261 GRCh38 Chromosome 5, 37187795: 37187795
10 CPLANE1 NM_023073.3(CPLANE1): c.3859G> C (p.Asp1287His) single nucleotide variant Pathogenic rs606231261 GRCh37 Chromosome 5, 37187897: 37187897
11 CPLANE1 NM_023073.3(CPLANE1): c.1125A> G (p.Pro375=) single nucleotide variant Benign/Likely benign rs61745362 GRCh37 Chromosome 5, 37227916: 37227916
12 CPLANE1 NM_023073.3(CPLANE1): c.1125A> G (p.Pro375=) single nucleotide variant Benign/Likely benign rs61745362 GRCh38 Chromosome 5, 37227814: 37227814
13 CPLANE1 NM_023073.3(CPLANE1): c.1737G> A (p.Ala579=) single nucleotide variant Benign/Likely benign rs13356183 GRCh37 Chromosome 5, 37226960: 37226960
14 CPLANE1 NM_023073.3(CPLANE1): c.1737G> A (p.Ala579=) single nucleotide variant Benign/Likely benign rs13356183 GRCh38 Chromosome 5, 37226858: 37226858
15 CPLANE1 NM_023073.3(CPLANE1): c.1809T> C (p.Thr603=) single nucleotide variant Benign/Likely benign rs115435816 GRCh37 Chromosome 5, 37226888: 37226888
16 CPLANE1 NM_023073.3(CPLANE1): c.1809T> C (p.Thr603=) single nucleotide variant Benign/Likely benign rs115435816 GRCh38 Chromosome 5, 37226786: 37226786
17 CPLANE1 NM_023073.3(CPLANE1): c.3240C> T (p.Ala1080=) single nucleotide variant Benign/Likely benign rs28514632 GRCh37 Chromosome 5, 37205466: 37205466
18 CPLANE1 NM_023073.3(CPLANE1): c.3240C> T (p.Ala1080=) single nucleotide variant Benign/Likely benign rs28514632 GRCh38 Chromosome 5, 37205364: 37205364
19 CPLANE1 NM_023073.3(CPLANE1): c.3743G> A (p.Gly1248Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72736758 GRCh37 Chromosome 5, 37196028: 37196028
20 CPLANE1 NM_023073.3(CPLANE1): c.3743G> A (p.Gly1248Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72736758 GRCh38 Chromosome 5, 37195926: 37195926
21 CPLANE1 NM_023073.3(CPLANE1): c.378G> A (p.Gly126=) single nucleotide variant Benign/Likely benign rs73750958 GRCh37 Chromosome 5, 37244669: 37244669
22 CPLANE1 NM_023073.3(CPLANE1): c.378G> A (p.Gly126=) single nucleotide variant Benign/Likely benign rs73750958 GRCh38 Chromosome 5, 37244567: 37244567
23 CPLANE1 NM_023073.3(CPLANE1): c.3795T> A (p.Val1265=) single nucleotide variant Benign/Likely benign rs74478954 GRCh37 Chromosome 5, 37195976: 37195976
24 CPLANE1 NM_023073.3(CPLANE1): c.3795T> A (p.Val1265=) single nucleotide variant Benign/Likely benign rs74478954 GRCh38 Chromosome 5, 37195874: 37195874
25 CPLANE1 NM_023073.3(CPLANE1): c.4310T> C (p.Ile1437Thr) single nucleotide variant Benign/Likely benign rs6859950 GRCh37 Chromosome 5, 37185061: 37185061
26 CPLANE1 NM_023073.3(CPLANE1): c.4310T> C (p.Ile1437Thr) single nucleotide variant Benign/Likely benign rs6859950 GRCh38 Chromosome 5, 37184959: 37184959
27 CPLANE1 NM_023073.3(CPLANE1): c.4698A> G (p.Leu1566=) single nucleotide variant Benign/Likely benign rs143312971 GRCh37 Chromosome 5, 37183585: 37183585
28 CPLANE1 NM_023073.3(CPLANE1): c.4698A> G (p.Leu1566=) single nucleotide variant Benign/Likely benign rs143312971 GRCh38 Chromosome 5, 37183483: 37183483
29 CPLANE1 NM_023073.3(CPLANE1): c.5314A> G (p.Ser1772Gly) single nucleotide variant Benign/Likely benign rs79377186 GRCh37 Chromosome 5, 37182969: 37182969
30 CPLANE1 NM_023073.3(CPLANE1): c.5314A> G (p.Ser1772Gly) single nucleotide variant Benign/Likely benign rs79377186 GRCh38 Chromosome 5, 37182867: 37182867
31 CPLANE1 NM_023073.3(CPLANE1): c.5343A> T (p.Thr1781=) single nucleotide variant Benign/Likely benign rs73750949 GRCh37 Chromosome 5, 37182940: 37182940
32 CPLANE1 NM_023073.3(CPLANE1): c.5343A> T (p.Thr1781=) single nucleotide variant Benign/Likely benign rs73750949 GRCh38 Chromosome 5, 37182838: 37182838
33 CPLANE1 NM_023073.3(CPLANE1): c.5421G> A (p.Lys1807=) single nucleotide variant Conflicting interpretations of pathogenicity rs149313666 GRCh37 Chromosome 5, 37182862: 37182862
34 CPLANE1 NM_023073.3(CPLANE1): c.5421G> A (p.Lys1807=) single nucleotide variant Conflicting interpretations of pathogenicity rs149313666 GRCh38 Chromosome 5, 37182760: 37182760
35 CPLANE1 NM_023073.3(CPLANE1): c.5512A> G (p.Thr1838Ala) single nucleotide variant Benign/Likely benign rs76245173 GRCh37 Chromosome 5, 37181017: 37181017
36 CPLANE1 NM_023073.3(CPLANE1): c.5512A> G (p.Thr1838Ala) single nucleotide variant Benign/Likely benign rs76245173 GRCh38 Chromosome 5, 37180915: 37180915
37 CPLANE1 NM_023073.3(CPLANE1): c.5900+7G> T single nucleotide variant Benign/Likely benign rs78315844 GRCh37 Chromosome 5, 37177716: 37177716
38 CPLANE1 NM_023073.3(CPLANE1): c.5900+7G> T single nucleotide variant Benign/Likely benign rs78315844 GRCh38 Chromosome 5, 37177614: 37177614
39 CPLANE1 NM_023073.3(CPLANE1): c.6051T> C (p.Ala2017=) single nucleotide variant Benign/Likely benign rs61746147 GRCh37 Chromosome 5, 37173977: 37173977
40 CPLANE1 NM_023073.3(CPLANE1): c.6051T> C (p.Ala2017=) single nucleotide variant Benign/Likely benign rs61746147 GRCh38 Chromosome 5, 37173875: 37173875
41 CPLANE1 NM_023073.3(CPLANE1): c.6427A> G (p.Ile2143Val) single nucleotide variant Benign/Likely benign rs6884652 GRCh37 Chromosome 5, 37170178: 37170178
42 CPLANE1 NM_023073.3(CPLANE1): c.6427A> G (p.Ile2143Val) single nucleotide variant Benign/Likely benign rs6884652 GRCh38 Chromosome 5, 37170076: 37170076
43 CPLANE1 NM_023073.3(CPLANE1): c.7775C> T (p.Pro2592Leu) single nucleotide variant Benign/Likely benign rs16903518 GRCh37 Chromosome 5, 37158363: 37158363
44 CPLANE1 NM_023073.3(CPLANE1): c.7775C> T (p.Pro2592Leu) single nucleotide variant Benign/Likely benign rs16903518 GRCh38 Chromosome 5, 37158261: 37158261
45 CPLANE1 NM_023073.3(CPLANE1): c.8124C> T (p.Asp2708=) single nucleotide variant Conflicting interpretations of pathogenicity rs114126795 GRCh37 Chromosome 5, 37153929: 37153929
46 CPLANE1 NM_023073.3(CPLANE1): c.8124C> T (p.Asp2708=) single nucleotide variant Conflicting interpretations of pathogenicity rs114126795 GRCh38 Chromosome 5, 37153827: 37153827
47 CPLANE1 NM_023073.3(CPLANE1): c.8182C> A (p.Pro2728Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs77014998 GRCh37 Chromosome 5, 37153871: 37153871
48 CPLANE1 NM_023073.3(CPLANE1): c.8182C> A (p.Pro2728Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs77014998 GRCh38 Chromosome 5, 37153769: 37153769
49 CPLANE1 NM_023073.3(CPLANE1): c.8502-3A> T single nucleotide variant Benign/Likely benign rs58401892 GRCh37 Chromosome 5, 37138953: 37138953
50 CPLANE1 NM_023073.3(CPLANE1): c.8502-3A> T single nucleotide variant Benign/Likely benign rs58401892 GRCh38 Chromosome 5, 37138851: 37138851

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 CDKL2 CEP290 KIAA0753 OFD1 RPGRIP1L
2 microtubule organizing center GO:0005815 9.8 CEP290 KIAA0753 OFD1 RPGRIP1L
3 cilium GO:0005929 9.77 ARL13A ARL13B CEP290 CPLANE1 KIF7 OFD1
4 ciliary membrane GO:0060170 9.72 ARL13A ARL13B TCTN3 TMEM17 TMEM231
5 ciliary basal body GO:0036064 9.71 CEP290 KIF7 OFD1 RPGRIP1L
6 centriole GO:0005814 9.65 CEP290 KIAA0753 OFD1
7 MKS complex GO:0036038 9.65 CEP290 TCTN1 TMEM17 TMEM216 TMEM231
8 centriolar satellite GO:0034451 9.54 CEP290 KIAA0753 OFD1
9 non-motile cilium GO:0097730 9.51 ARL13A ARL13B
10 ciliary transition zone GO:0035869 9.28 CDKL1 CEP290 CPLANE1 RPGRIP1L TCTN1 TMEM17
11 cytoskeleton GO:0005856 10.03 CEP290 KIAA0753 KIF7 OFD1 PDE6D RPGRIP1L
12 cell projection GO:0042995 10 ARL13B CEP290 CPLANE1 KIF7 OFD1 PDE6D

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

Sources for Orofaciodigital Syndrome Vi

3 CDC
7 CNVD
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