MCID: PLY030
MIFTS: 35

Polydactyly Cleft Lip Palate Psychomotor Retardation

Categories: Rare diseases, Neuronal diseases, Ear diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Polydactyly Cleft Lip Palate Psychomotor Retardation

MalaCards integrated aliases for Polydactyly Cleft Lip Palate Psychomotor Retardation:

Name: Polydactyly Cleft Lip Palate Psychomotor Retardation 53
Polydactyly-Cleft Lip/palate-Psychomotor Retardation Syndrome 53 59
Joubert Syndrome with Orofaciodigital Defect 53 59
Oral-Facial-Digital Syndrome Type 6 53 59
Orofaciodigital Syndrome Type 6 53 59
Váradi-Papp Syndrome 53 59
Váradi Syndrome 53 59
Ofd6 53 59
Polydactyly - Cleft Lip/palate - Psychomotor Retardation 53
Joubert Syndrome with Oral-Facial-Digital Syndrome 59
Orofaciodigital Syndrome Vi 73

Characteristics:

Orphanet epidemiological data:

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

Classifications:



Summaries for Polydactyly Cleft Lip Palate Psychomotor Retardation

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 : Polydactyly Cleft Lip Palate Psychomotor Retardation, also known as polydactyly-cleft lip/palate-psychomotor retardation syndrome, is related to orofaciodigital syndrome vi and hydrolethalus syndrome 1. An important gene associated with Polydactyly Cleft Lip Palate Psychomotor Retardation is CPLANE1 (Ciliogenesis And Planar Polarity Effector 1), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include tongue, bone and heart, and related phenotypes are cleft palate and lobulated tongue

Related Diseases for Polydactyly Cleft Lip Palate Psychomotor Retardation

Diseases related to Polydactyly Cleft Lip Palate Psychomotor Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome vi 11.7
2 hydrolethalus syndrome 1 9.7 KIF7 TMEM216
3 meckel syndrome, type 1 9.3 CPLANE1 OFD1 TMEM216
4 asphyxiating thoracic dystrophy 9.1 KIAA0753 TCTN3
5 trehalase deficiency 8.6 CPLANE1 KIF7 OFD1 TMEM216
6 orofaciodigital syndrome 8.4 CPLANE1 KIAA0753 OFD1 TCTN3
7 joubert syndrome 1 6.7 CPLANE1 KIAA0753 KIF7 OFD1 PDE6D TCTN3

Graphical network of the top 20 diseases related to Polydactyly Cleft Lip Palate Psychomotor Retardation:



Diseases related to Polydactyly Cleft Lip Palate Psychomotor Retardation

Symptoms & Phenotypes for Polydactyly Cleft Lip Palate Psychomotor Retardation

Human phenotypes related to Polydactyly Cleft Lip Palate Psychomotor Retardation:

59 32 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
2 lobulated tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000180
3 tongue nodules 59 32 frequent (33%) Frequent (79-30%) HP:0000199
4 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
5 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
6 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
7 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
8 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
9 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
10 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
11 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
12 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
13 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
14 syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001159
15 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
16 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
17 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
18 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
19 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
20 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
21 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
22 molar tooth sign on mri 59 32 frequent (33%) Frequent (79-30%) HP:0002419
23 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
24 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
25 hypoplasia of olfactory tract 59 32 frequent (33%) Frequent (79-30%) HP:0007036
26 bilateral cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0008689
27 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
28 hamartoma of tongue 59 32 frequent (33%) Frequent (79-30%) HP:0011802
29 finger clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0040019
30 preaxial polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0100258
31 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
32 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
33 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
34 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
35 cerebellar vermis hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001320
36 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
37 abnormal heart morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001627
38 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
39 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
40 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
41 hypothalamic hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002444
42 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
43 episodic tachypnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002876
44 central y-shaped metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0006145
45 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
46 midline notch of upper alveolar ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0009084
47 mesoaxial polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0100260
48 abnormality of oral frenula 59 Frequent (79-30%)
49 muscular hypotonia 59 Frequent (79-30%)
50 growth delay 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Polydactyly Cleft Lip Palate Psychomotor Retardation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.92 CPLANE1 KIAA0753 KIF7 OFD1

Drugs & Therapeutics for Polydactyly Cleft Lip Palate Psychomotor Retardation

Search Clinical Trials , NIH Clinical Center for Polydactyly Cleft Lip Palate Psychomotor Retardation

Genetic Tests for Polydactyly Cleft Lip Palate Psychomotor Retardation

Anatomical Context for Polydactyly Cleft Lip Palate Psychomotor Retardation

MalaCards organs/tissues related to Polydactyly Cleft Lip Palate Psychomotor Retardation:

41
Tongue, Bone, Heart, Brain, Pituitary

Publications for Polydactyly Cleft Lip Palate Psychomotor Retardation

Articles related to Polydactyly Cleft Lip Palate Psychomotor Retardation:

# 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 Polydactyly Cleft Lip Palate Psychomotor Retardation

ClinVar genetic disease variations for Polydactyly Cleft Lip Palate Psychomotor Retardation:

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 Polydactyly Cleft Lip Palate Psychomotor Retardation

Search GEO for disease gene expression data for Polydactyly Cleft Lip Palate Psychomotor Retardation.

Pathways for Polydactyly Cleft Lip Palate Psychomotor Retardation

Pathways related to Polydactyly Cleft Lip Palate Psychomotor Retardation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 OFD1 PDE6D TCTN3 TMEM216

GO Terms for Polydactyly Cleft Lip Palate Psychomotor Retardation

Cellular components related to Polydactyly Cleft Lip Palate Psychomotor Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.55 KIAA0753 KIF7 OFD1 PDE6D TMEM216
2 centriole GO:0005814 9.4 KIAA0753 OFD1
3 ciliary basal body GO:0036064 9.37 KIF7 OFD1
4 cell projection GO:0042995 9.35 CPLANE1 KIF7 OFD1 PDE6D TMEM216
5 ciliary transition zone GO:0035869 9.32 CPLANE1 TMEM216
6 centriolar satellite GO:0034451 9.26 KIAA0753 OFD1
7 cilium GO:0005929 9.02 CPLANE1 KIF7 OFD1 PDE6D TMEM216

Biological processes related to Polydactyly Cleft Lip Palate Psychomotor Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.33 OFD1 TCTN3 TMEM216
2 centriole replication GO:0007099 9.26 KIAA0753 OFD1
3 cilium assembly GO:0060271 9.26 CPLANE1 OFD1 TCTN3 TMEM216
4 cell projection organization GO:0030030 8.92 CPLANE1 OFD1 TCTN3 TMEM216

Sources for Polydactyly Cleft Lip Palate Psychomotor Retardation

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