OFD6
MCID: ORF034
MIFTS: 46

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 57 12 75 73
Orofaciodigital Syndrome 6 53 75 29 6 44
Ofd6 57 12 53 59 75
Joubert Syndrome with Orofaciodigital Defect 12 53 59 15
Varadi-Papp Syndrome 57 12 75
Varadi Syndrome 57 12 75
Polydactyly, Cleft Lip/palate or Lingual Lump, and Psychomotor Retardation 57 75
Polydactyly-Cleft Lip/palate-Psychomotor Retardation Syndrome 53 59
Polydactyly Cleft Lip Palate Psychomotor Retardation 12 53
Oral-Facial-Digital Syndrome, Type Vi 57 75
Oral-Facial-Digital Syndrome Type 6 53 59
Orofaciodigital Syndrome Type 6 53 59
Váradi-Papp Syndrome 53 59
Váradi Syndrome 53 59
Ofds Vi 57 75
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 75
Varadipapp Syndrome 76

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:



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: 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 hydrolethalus syndrome 1 and orofaciodigital syndrome. An important gene associated with Orofaciodigital Syndrome Vi is CPLANE1 (Ciliogenesis And Planar Polarity Effector 1), and among its related pathways/superpathways is 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 : 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 : 75 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 : 76 Polydactyly or polydactylism (from Greek, Modern �?ολύ�? (polys), meaning ''many'', and δάκ�?�?λο�?... more...

Related Diseases for Orofaciodigital Syndrome Vi

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



Diseases related to Orofaciodigital Syndrome Vi

Symptoms & Phenotypes for Orofaciodigital Syndrome Vi

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Orofaciodigital Syndrome Vi:

59 32 (show top 50) (show all 66)
# 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 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
8 muscular hypotonia 59 32 Frequent (79-30%) HP:0001252
9 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
10 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
11 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
12 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
15 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
16 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
17 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
18 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
19 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
20 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
21 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
22 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
23 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
24 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
25 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
26 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
27 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
28 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
29 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
30 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
31 bilateral cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0008689
32 finger clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0040019
33 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
34 cerebellar vermis hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001320
35 molar tooth sign on mri 59 32 frequent (33%) Frequent (79-30%) HP:0002419
36 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
37 hypoplasia of olfactory tract 59 32 frequent (33%) Frequent (79-30%) HP:0007036
38 episodic tachypnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002876
39 syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001159
40 abnormal heart morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001627
41 hamartoma of tongue 59 32 frequent (33%) Frequent (79-30%) HP:0011802
42 lobulated tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000180
43 tongue nodules 59 32 frequent (33%) Frequent (79-30%) HP:0000199
44 preaxial polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0100258
45 hypothalamic hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002444
46 central y-shaped metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0006145
47 midline notch of upper alveolar ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0009084
48 mesoaxial polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0100260
49 low-set ears 32 HP:0000369
50 clinodactyly 32 HP:0030084

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.5 ARL13B CPLANE1 KIAA0753 KIF7 OFD1 TCTN1
2 limbs/digits/tail MP:0005371 9.02 CPLANE1 KIF7 OFD1 TCTN1 TMEM231

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, 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:

75
# 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 174)
# 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

Pathways related to Orofaciodigital Syndrome Vi according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.83 ARL13B OFD1 PDE6D TCTN1 TCTN3 TMEM216

GO Terms for Orofaciodigital Syndrome Vi

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 KIAA0753 KIF7 OFD1 PDE6D TCTN1 TMEM216
2 cell projection GO:0042995 9.81 ARL13B CPLANE1 KIF7 OFD1 PDE6D TCTN1
3 ciliary membrane GO:0060170 9.5 ARL13B TCTN3 TMEM231
4 MKS complex GO:0036038 9.43 TCTN1 TMEM216 TMEM231
5 centriolar satellite GO:0034451 9.4 KIAA0753 OFD1
6 ciliary transition zone GO:0035869 9.35 CDKL1 CPLANE1 TCTN1 TMEM216 TMEM231
7 cilium GO:0005929 9.23 ARL13B CPLANE1 KIF7 OFD1 PDE6D TMEM138

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

# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.5 ARL13B TCTN3 TMEM231
2 cell projection organization GO:0030030 9.5 CPLANE1 OFD1 TCTN1 TCTN3 TMEM138 TMEM216
3 ciliary basal body-plasma membrane docking GO:0097711 9.46 OFD1 TCTN1 TCTN3 TMEM216
4 embryonic digit morphogenesis GO:0042733 9.43 CPLANE1 TMEM231
5 non-motile cilium assembly GO:1905515 9.4 ARL13B TMEM216
6 centriole replication GO:0007099 9.37 KIAA0753 OFD1
7 protein localization to ciliary transition zone GO:1904491 9.26 CPLANE1 TCTN1
8 cilium assembly GO:0060271 9.23 ARL13B CPLANE1 OFD1 TCTN1 TCTN3 TMEM138

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 8.62 CDKL1 CDKL3

Sources for Orofaciodigital Syndrome Vi

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