MCID: ORF033
MIFTS: 27

Orofaciodigital Syndrome V

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Oral diseases, Ear diseases, Respiratory diseases, Eye diseases, Nephrological diseases

Aliases & Classifications for Orofaciodigital Syndrome V

MalaCards integrated aliases for Orofaciodigital Syndrome V:

Name: Orofaciodigital Syndrome V 57 12 53 75
Orofaciodigital Syndrome 5 53 75 29 6 44 73
Ofd5 57 12 53 59 75
Thurston Syndrome 57 53 59 75
Polydactyly, Postaxial, with Median Cleft of Upper Lip 57 12 75
Polydactyly Postaxial with Median Cleft of Upper Lip 53 59
Orofaciodigital Syndrome, Thurston Type 57 59
Orofaciodigital Syndrome Thurston Type 12 75
Oral-Facial-Digital Syndrome, Type V 57 75
Oral-Facial-Digital Syndrome 5 53 75
Ofds V 57 75
Oral Facial Digital Syndrome Type 5 53
Oral-Facial-Digital Syndrome Type 5 59
Papillon-Leage and Psaume Syndrome 75
Orofaciodigital Syndrome, Type V 40
Orofaciodigital Syndrome Type 5 59
Oral Facial Digital Syndrome 5 53
Ofd Syndrome 5 53
Ofds 5 53

Characteristics:

Orphanet epidemiological data:

59
orofaciodigital syndrome type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
orofaciodigital syndrome v:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 174300
Disease Ontology 12 DOID:0060375
Orphanet 59 ORPHA2919
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 74 C1868118
MedGen 42 C1868118
UMLS 73 C1868118

Summaries for Orofaciodigital Syndrome V

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2919Disease definitionOral-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).EpidemiologyLess than 20 patients (predominantly of Indian origin) have been reported so far.EtiologyAutosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome V, also known as orofaciodigital syndrome 5, is related to orofaciodigital syndrome i and orofaciodigital syndrome. An important gene associated with Orofaciodigital Syndrome V is DDX59 (DEAD-Box Helicase 59). Affiliated tissues include tongue, kidney and bone, and related phenotypes are hypertelorism and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 75 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.

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.

Description from OMIM: 174300

Related Diseases for Orofaciodigital Syndrome V

Symptoms & Phenotypes for Orofaciodigital Syndrome V

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
intellectual disability
agenesis of the corpus callosum (in some patients)

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

Human phenotypes related to Orofaciodigital Syndrome V:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
3 frontal bossing 32 HP:0002007
4 intellectual disability 32 HP:0001249
5 scoliosis 32 occasional (7.5%) HP:0002650
6 cleft palate 32 occasional (7.5%) HP:0000175
7 aganglionic megacolon 32 occasional (7.5%) HP:0002251
8 postaxial hand polydactyly 32 HP:0001162
9 postaxial foot polydactyly 32 HP:0001830
10 bifid uvula 32 occasional (7.5%) HP:0000193
11 median cleft lip 32 HP:0000161
12 lobulated tongue 32 HP:0000180

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 5 29 DDX59

Anatomical Context for Orofaciodigital Syndrome V

MalaCards organs/tissues related to Orofaciodigital Syndrome V:

41
Tongue, Kidney, Bone

Publications for Orofaciodigital Syndrome V

Variations for Orofaciodigital Syndrome V

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

75
# Symbol AA change Variation ID SNP ID
1 DDX59 p.Val367Gly VAR_070198 rs587777067
2 DDX59 p.Gly534Arg VAR_070199 rs886037652

ClinVar genetic disease variations for Orofaciodigital Syndrome V:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DDX59 NM_001031725.5(DDX59): c.1100T> G (p.Val367Gly) single nucleotide variant Pathogenic rs587777067 GRCh37 Chromosome 1, 200619767: 200619767
2 DDX59 NM_001031725.5(DDX59): c.1100T> G (p.Val367Gly) single nucleotide variant Pathogenic rs587777067 GRCh38 Chromosome 1, 200650639: 200650639
3 DDX59 NM_001031725.5(DDX59): c.1600G> A (p.Gly534Arg) single nucleotide variant Pathogenic rs886037652 GRCh38 Chromosome 1, 200644514: 200644514
4 DDX59 NM_001031725.5(DDX59): c.1600G> A (p.Gly534Arg) single nucleotide variant Pathogenic rs886037652 GRCh37 Chromosome 1, 200613642: 200613642

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

Sources for Orofaciodigital Syndrome V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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