MCID: ORF034
MIFTS: 42

Orofaciodigital Syndrome Vi

Categories: Genetic diseases, Oral diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases, Respiratory diseases, Eye diseases, Nephrological 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 75 29 6 44
Varadi-Papp Syndrome 57 12 75
Varadi Syndrome 57 12 75
Ofd6 57 12 75
Polydactyly, Cleft Lip/palate or Lingual Lump, and Psychomotor Retardation 57 75
Joubert Syndrome with Orofaciodigital Defect 12 15
Oral-Facial-Digital Syndrome, Type Vi 57 75
Ofds Vi 57 75
Orofaciodigital Syndrome, Type Vi 40
Oral-Facial-Digital Syndrome 6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
orofaciodigital syndrome vi:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Vi

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.

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). Affiliated tissues include tongue and pituitary, and related phenotypes are renal agenesis and renal dysplasia

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)

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

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:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 renal agenesis 32 HP:0000104
2 renal dysplasia 32 HP:0000110
3 cleft palate 32 HP:0000175
4 accessory oral frenulum 32 HP:0000191
5 tongue nodules 32 HP:0000199
6 cleft upper lip 32 HP:0000204
7 high palate 32 HP:0000218
8 epicanthus 32 HP:0000286
9 hypertelorism 32 HP:0000316
10 micrognathia 32 HP:0000347
11 posteriorly rotated ears 32 HP:0000358
12 low-set ears 32 HP:0000369
13 conductive hearing impairment 32 HP:0000405
14 broad nasal tip 32 HP:0000455
15 esotropia 32 HP:0000565
16 nystagmus 32 HP:0000639
17 brachydactyly 32 HP:0001156
18 preaxial hand polydactyly 32 HP:0001177
19 intellectual disability 32 HP:0001249
20 muscular hypotonia 32 HP:0001252
21 global developmental delay 32 HP:0001263
22 generalized hypotonia 32 HP:0001290
23 cerebellar vermis hypoplasia 32 HP:0001320
24 failure to thrive 32 HP:0001508
25 toe syndactyly 32 HP:0001770
26 preaxial foot polydactyly 32 HP:0001841
27 molar tooth sign on mri 32 HP:0002419
28 hypothalamic hamartoma 32 HP:0002444
29 short stature 32 HP:0004322
30 central y-shaped metacarpal 32 HP:0006145
31 mesoaxial hand polydactyly 32 HP:0006159
32 radial deviation of finger 32 HP:0009466
33 clinodactyly 32 HP:0030084
34 postaxial polydactyly 32 HP:0100259

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.55 CDKL2
2 Decreased viability GR00221-A-1 9.55 CDKL2 RPGRIP1
3 Decreased viability GR00221-A-2 9.55 CDKL2 RPGRIP1
4 Decreased viability GR00221-A-4 9.55 CDKL1 CDKL2 CDKL3 RPGRIP1
5 Decreased viability GR00301-A 9.55 RPGRIP1
6 Decreased viability GR00342-S-1 9.55 CDKL2
7 Decreased viability GR00381-A-1 9.55 CDKL2 RPGRIP1
8 Decreased viability GR00402-S-2 9.55 CDKL1 CDKL2 CDKL3 RPGRIP1
9 Decreased substrate adherent cell growth GR00193-A-2 9.35 CDKL1 CDKL2 CDKL3
10 Decreased substrate adherent cell growth GR00193-A-4 9.35 CDKL1 CDKL2

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 ARL13B CEP290 CPLANE1 NODAL RPGRIP1 RPGRIP1L
2 respiratory system MP:0005388 9.1 ARL13B CEP290 CPLANE1 NODAL RPGRIP1L TUBB3

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, 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
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 122)
# 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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.9 ARL13B CEP290 CPLANE1 RPGRIP1 RPGRIP1L TCTN1
2 cilium GO:0005929 9.65 ARL13B CEP290 CPLANE1 RPGRIP1 RPGRIP1L TMEM138
3 axoneme GO:0005930 9.58 ARL13B RPGRIP1 RPGRIP1L
4 MKS complex GO:0036038 9.56 CEP290 TCTN1 TMEM17 TMEM231
5 ciliary membrane GO:0060170 9.54 ARL13B TMEM17 TMEM231
6 photoreceptor connecting cilium GO:0032391 9.5 CEP290 RPGRIP1 RPGRIP1L
7 ciliary transition zone GO:0035869 9.17 CEP290 CPLANE1 RPGRIP1L TCTN1 TMEM17 TMEM231

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 9.67 CDKL1 CDKL2 CDKL3
2 ciliary basal body-plasma membrane docking GO:0097711 9.63 CEP290 RPGRIP1L TCTN1
3 determination of left/right symmetry GO:0007368 9.58 ARL13B NODAL RPGRIP1L
4 smoothened signaling pathway GO:0007224 9.54 ARL13B TMEM17 TMEM231
5 telencephalon development GO:0021537 9.52 RPGRIP1L TCTN1
6 regulation of smoothened signaling pathway GO:0008589 9.51 RPGRIP1L TCTN1
7 eye photoreceptor cell development GO:0042462 9.48 CEP290 RPGRIP1
8 non-motile cilium assembly GO:1905515 9.46 ARL13B RPGRIP1L TMEM17 TMEM80
9 establishment of planar polarity GO:0001736 9.43 CPLANE1 RPGRIP1L
10 cell projection organization GO:0030030 9.43 CEP290 CPLANE1 TCTN1 TMEM138 TMEM17 TMEM231
11 neural tube patterning GO:0021532 9.32 ARL13B RPGRIP1L
12 protein localization to ciliary transition zone GO:1904491 9.26 CPLANE1 TCTN1
13 cilium assembly GO:0060271 9.23 ARL13B CEP290 CPLANE1 RPGRIP1L TCTN1 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 8.8 CDKL1 CDKL2 CDKL3

Sources for Orofaciodigital Syndrome Vi

3 CDC
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11 DGIdb
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