OFD5
MCID: ORF033
MIFTS: 43

Orofaciodigital Syndrome V (OFD5)

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 V

MalaCards integrated aliases for Orofaciodigital Syndrome V:

Name: Orofaciodigital Syndrome V 57 12 20 72 29 6 15
Ofd5 57 12 20 58 72
Orofaciodigital Syndrome 5 20 72 44 70
Thurston Syndrome 57 20 58 72
Polydactyly, Postaxial, with Median Cleft of Upper Lip 57 12 72
Polydactyly Postaxial with Median Cleft of Upper Lip 20 58
Orofaciodigital Syndrome, Thurston Type 57 58
Orofaciodigital Syndrome Thurston Type 12 72
Oral-Facial-Digital Syndrome, Type V 57 72
Oral-Facial-Digital Syndrome 5 20 72
Ofds V 57 72
Oral Facial Digital Syndrome Type 5 20
Oral-Facial-Digital Syndrome Type 5 58
Papillon-Leage and Psaume Syndrome 72
Orofaciodigital Syndrome, Type V 39
Orofaciodigital Syndrome Type 5 58
Oral Facial Digital Syndrome 5 20
Ofd Syndrome 5 20
Ofds 5 20

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
orofaciodigital syndrome v:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060375
OMIM® 57 174300
OMIM Phenotypic Series 57 PS311200
SNOMED-CT 67 722105002
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C1868118
Orphanet 58 ORPHA2919
MedGen 41 C1868118
UMLS 70 C1868118

Summaries for Orofaciodigital Syndrome V

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2919 Definition Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Epidemiology Less than 20 patients (predominantly of Indian origin) have been reported so far. Etiology Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.

MalaCards based summary : Orofaciodigital Syndrome V, also known as ofd5, is related to polydactyly and orofaciodigital syndrome. An important gene associated with Orofaciodigital Syndrome V is DDX59 (DEAD-Box Helicase 59). Affiliated tissues include tongue and kidney, and related phenotypes are postaxial hand polydactyly and median cleft lip

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has material basis in homozygous mutation in the DDX59 gene on chromosome 1q32.

UniProtKB/Swiss-Prot : 72 Orofaciodigital syndrome 5: 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. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability.

More information from OMIM: 174300 PS311200

Related Diseases for Orofaciodigital Syndrome V

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 V via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 polydactyly 29.8 OFD1 KIAA0586 CPLANE1
2 orofaciodigital syndrome 29.4 WDPCP TMEM231 TCTN3 OFD1 KIAA0586 DDX59
3 orofaciodigital syndrome i 11.7
4 orofaciodigital syndrome iii 10.1 TMEM231 OFD1
5 cleft palate, isolated 10.0
6 microcephaly 10.0
7 joubert syndrome 2 10.0 OFD1 C2CD3
8 meckel syndrome, type 3 9.9 TMEM231 TCTN3 OFD1
9 coloboma of optic nerve 9.9 UBE3B OFD1
10 senior-loken syndrome 1 9.9 TMEM231 TCTN3 OFD1
11 joubert syndrome 4 9.9 OFD1 KIAA0586
12 cranioectodermal dysplasia 9.8 OFD1 KIAA0586
13 meckel syndrome, type 4 9.8 TMEM231 CPLANE1
14 ciliopathy 9.8 TMEM231 KIAA0586 C2CD3
15 johanson-blizzard syndrome 9.7 TMEM231 TCTN3 CPLANE1
16 joubert syndrome 17 9.7 WDPCP CPLANE1
17 polycystic kidney disease 4 with or without polycystic liver disease 9.6 TMEM231 OFD1 CPLANE1
18 meckel syndrome, type 6 9.6 WDPCP TMEM231 TCTN3 C2CD3
19 bardet-biedl syndrome 9.4 WDPCP TMEM231 OFD1
20 spinocerebellar ataxia 29 9.3 OFD1 KIAA0586 CPLANE1 C2CD3
21 coach syndrome 1 9.3 TMEM231 TCTN3 OFD1 CPLANE1 C2CD3
22 short-rib thoracic dysplasia 1 with or without polydactyly 9.2 TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1
23 coloboma of macula 9.2 TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1
24 short-rib thoracic dysplasia 6 with or without polydactyly 9.2 TCTN3 OFD1 KIAA0586 CPLANE1 C2CD3
25 orofaciodigital syndrome iv 9.1 TMEM231 TCTN3 OFD1 DDX59 CPLANE1 C2CD3
26 joubert syndrome 1 8.9 TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1 C2CD3
27 orofaciodigital syndrome vi 8.8 WDPCP TMEM231 TCTN3 OFD1 DDX59 CPLANE1
28 asphyxiating thoracic dystrophy 8.6 WDPCP TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1
29 meckel syndrome, type 1 8.6 WDPCP TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1
30 nephronophthisis 8.6 WDPCP TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1
31 fundus dystrophy 8.6 WDPCP TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1

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



Diseases related to Orofaciodigital Syndrome V

Symptoms & Phenotypes for Orofaciodigital Syndrome V

Human phenotypes related to Orofaciodigital Syndrome V:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
2 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 abnormality of the philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000288
7 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
8 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
9 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
10 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
12 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
13 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0011069
14 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
15 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
16 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
17 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
18 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
19 crossed fused renal ectopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004736
20 hypoplasia of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0006297
21 postaxial polysyndactyly of foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0005817
22 ectopic accessory finger-like appendage 58 31 occasional (7.5%) Occasional (29-5%) HP:0010441
23 absent cupid's bow 58 31 occasional (7.5%) Occasional (29-5%) HP:0010800
24 agenesis of canine 58 31 occasional (7.5%) Occasional (29-5%) HP:0012738
25 horseshoe kidney 31 very rare (1%) HP:0000085
26 postaxial foot polydactyly 58 31 Very frequent (99-80%) HP:0001830
27 abnormal oral frenulum morphology 58 Occasional (29-5%)
28 lobulated tongue 31 HP:0000180
29 cleft soft palate 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
agenesis of the corpus callosum (in some patients)

Head And Neck Eyes:
hypertelorism

Skeletal Hands:
postaxial polydactyly

Skeletal Spine:
scoliosis (rare)

Abdomen Gastrointestinal:
hirschsprung disease (rare)

Head And Neck Face:
frontal bossing

Head And Neck Mouth:
lobulated tongue
cleft palate (in some patients)
midline lip defect, subtle (in some patients)
bifid uvula (in some patients)
duplicated frenulum (in some patients)

Skeletal Feet:
postaxial polydactyly

Cardiovascular Heart:
tetralogy of fallot (rare)
ventricular septal defect (rare)

Genitourinary Kidneys:
fused kidneys (rare)

Clinical features from OMIM®:

174300 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Orofaciodigital Syndrome V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 C2CD3 CPLANE1 KIAA0586 OFD1 TCTN3 TMEM231
2 cellular MP:0005384 9.95 C2CD3 CPLANE1 KIAA0586 OFD1 TCTN3 UBE3B
3 embryo MP:0005380 9.92 C2CD3 CPLANE1 DDX59 KIAA0586 OFD1 TCTN3
4 growth/size/body region MP:0005378 9.86 C2CD3 CPLANE1 DDX59 KIAA0586 OFD1 TCTN3
5 craniofacial MP:0005382 9.77 CPLANE1 KIAA0586 OFD1 TCTN3 WDPCP
6 limbs/digits/tail MP:0005371 9.7 C2CD3 CPLANE1 KIAA0586 OFD1 TCTN3 TMEM231
7 mortality/aging MP:0010768 9.61 C2CD3 CPLANE1 DDX59 KIAA0586 OFD1 TCTN3
8 nervous system MP:0003631 9.28 C2CD3 CPLANE1 DDX59 KIAA0586 OFD1 TCTN3

Drugs & Therapeutics for Orofaciodigital Syndrome V

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome V

Cochrane evidence based reviews: orofaciodigital syndrome 5

Genetic Tests for Orofaciodigital Syndrome V

Genetic tests related to Orofaciodigital Syndrome V:

# Genetic test Affiliating Genes
1 Orofaciodigital Syndrome V 29 DDX59

Anatomical Context for Orofaciodigital Syndrome V

MalaCards organs/tissues related to Orofaciodigital Syndrome V:

40
Tongue, Kidney

Publications for Orofaciodigital Syndrome V

Articles related to Orofaciodigital Syndrome V:

(show all 11)
# Title Authors PMID Year
1
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 57 6
23972372 2013
2
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 57
2309783 1990
3
Median cleft lip associated with bimanual hexadactyly and bilateral accessory toes: another case. 57
7150858 1982
4
Median cleft of the upper lip in association with bilateral hexadactyly and accessory toes. 57
7426821 1980
5
Midline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome? 61
31648526 2020
6
Thurston syndrome: an uncommon disorder presenting with common abnormalities. 61
23524810 2013
7
Thurston syndrome: oral and systemic manifestations. Case report and review of the literature. 61
20305860 2010
8
Thurston syndrome: report of a new case. 61
16731396 2006
9
[Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings]. 61
10683749 1999
10
A case of oral-facial-digital syndrome with overlapping manifestations of type V and type VI: a possible new OFD syndrome. 61
10199905 1999
11
Heterogeneity and variability in the oral-facial-digital syndromes. 61
3144982 1988

Variations for Orofaciodigital Syndrome V

ClinVar genetic disease variations for Orofaciodigital Syndrome V:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDX59 NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg) SNV Pathogenic 88654 rs886037652 GRCh37: 1:200613642-200613642
GRCh38: 1:200644514-200644514
2 DDX59 NM_001031725.6(DDX59):c.185del (p.Phe62fs) Deletion Pathogenic 801603 rs773114666 GRCh37: 1:200635684-200635684
GRCh38: 1:200666556-200666556
3 DDX59 NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) SNV Pathogenic 88653 rs587777067 GRCh37: 1:200619767-200619767
GRCh38: 1:200650639-200650639
4 DDX59 NM_001031725.6(DDX59):c.1648_1650AAT[2] (p.Asn552del) Microsatellite Likely pathogenic 800916 rs1571603072 GRCh37: 1:200613586-200613588
GRCh38: 1:200644458-200644460
5 DDX59 NM_001031725.6(DDX59):c.27C>G (p.Ile9Met) SNV Uncertain significance 1033220 GRCh37: 1:200635842-200635842
GRCh38: 1:200666714-200666714
6 DDX59 NM_001031725.6(DDX59):c.751T>C (p.Ser251Pro) SNV Uncertain significance 637029 rs1571655262 GRCh37: 1:200635118-200635118
GRCh38: 1:200665990-200665990

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

72
# Symbol AA change Variation ID SNP ID
1 DDX59 p.Val367Gly VAR_070198 rs587777067
2 DDX59 p.Gly534Arg VAR_070199 rs886037652

Expression for Orofaciodigital Syndrome V

Search GEO for disease gene expression data for Orofaciodigital Syndrome V.

Pathways for Orofaciodigital Syndrome V

GO Terms for Orofaciodigital Syndrome V

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.43 OFD1 KIAA0586 C2CD3
2 ciliary membrane GO:0060170 9.37 TMEM231 TCTN3
3 centriole GO:0005814 9.33 OFD1 KIAA0586 C2CD3
4 ciliary transition zone GO:0035869 9.32 TMEM231 CPLANE1
5 cilium GO:0005929 9.26 WDPCP TMEM231 OFD1 CPLANE1
6 cell projection GO:0042995 9.1 WDPCP TMEM231 OFD1 KIAA0586 CPLANE1 C2CD3

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

# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.56 WDPCP TMEM231 TCTN3 KIAA0586
2 ciliary basal body-plasma membrane docking GO:0097711 9.5 TCTN3 OFD1 C2CD3
3 cilium assembly GO:0060271 9.5 WDPCP TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1
4 embryonic digit morphogenesis GO:0042733 9.46 WDPCP TMEM231 CPLANE1 C2CD3
5 regulation of protein localization GO:0032880 9.43 WDPCP TMEM231
6 roof of mouth development GO:0060021 9.4 WDPCP CPLANE1
7 camera-type eye development GO:0043010 9.37 WDPCP TMEM231
8 cell projection organization GO:0030030 9.17 WDPCP TMEM231 TCTN3 OFD1 KIAA0586 CPLANE1

Sources for Orofaciodigital Syndrome V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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