OFD7
MCID: ORF039
MIFTS: 20

Orofaciodigital Syndrome Vii (OFD7)

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 Vii

MalaCards integrated aliases for Orofaciodigital Syndrome Vii:

Name: Orofaciodigital Syndrome Vii 56 12 43 15 71
Whelan Syndrome 56 12
Ofd7 56 12
Oral-Facial-Digital Syndrome, Type Vii 56
Ofds Vii 56

Classifications:



External Ids:

Disease Ontology 12 DOID:0060377
OMIM 56 608518
MeSH 43 C563104
UMLS 71 C0796100

Summaries for Orofaciodigital Syndrome Vii

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has material basis in autosomal dominant inheritance.

MalaCards based summary : Orofaciodigital Syndrome Vii, also known as whelan syndrome, is related to orofaciodigital syndrome vi and joubert syndrome 13. An important gene associated with Orofaciodigital Syndrome Vii is YIPF3 (Yip1 Domain Family Member 3).

More information from OMIM: 608518

Related Diseases for Orofaciodigital Syndrome Vii

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome vi 9.9 YIPF3 TMEM216
2 joubert syndrome 13 9.8 TMEM216 GLI3
3 anus, imperforate 9.8 TMEM216 GLI3
4 pallister-hall syndrome 9.8 TMEM216 GLI3
5 acrocallosal syndrome 9.8 TMEM216 GLI3
6 chromosome 2q35 duplication syndrome 9.8 TMEM216 GLI3
7 short-rib thoracic dysplasia 14 with polydactyly 9.7 GLI3 CNTLN
8 ellis-van creveld syndrome 9.7 TMEM216 GLI3
9 coloboma of macula 9.7 TMEM216 GLI3
10 orofacial cleft 9.6 TMEM216 GLI3
11 joubert syndrome 4 9.6 TMEM216 CNTLN
12 physical disorder 9.6 GLI3 CNTLN
13 joubert syndrome 3 9.6 TMEM216 CNTLN
14 senior-loken syndrome 1 9.5 TMEM216 CNTLN
15 nephronophthisis 9.3 TMEM216 CNTLN
16 joubert syndrome 1 9.2 TMEM216 GLI3 CNTLN
17 meckel syndrome, type 1 9.2 TMEM216 GLI3 CNTLN
18 bardet-biedl syndrome 9.2 TMEM216 GLI3 CNTLN
19 leber plus disease 9.2 TMEM216 CNTLN

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



Diseases related to Orofaciodigital Syndrome Vii

Symptoms & Phenotypes for Orofaciodigital Syndrome Vii

Clinical features from OMIM:

608518

Drugs & Therapeutics for Orofaciodigital Syndrome Vii

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Vii

Cochrane evidence based reviews: orofaciodigital syndrome vii

Genetic Tests for Orofaciodigital Syndrome Vii

Anatomical Context for Orofaciodigital Syndrome Vii

Publications for Orofaciodigital Syndrome Vii

Articles related to Orofaciodigital Syndrome Vii:

# Title Authors PMID Year
1
Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. 56
14598343 2003
2
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 56
2309783 1990
3
The oro-facial-digital syndrome. 56
1175324 1975
4
[Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings]. 61
10683749 1999
5
Heterogeneity and variability in the oral-facial-digital syndromes. 61
3144982 1988

Variations for Orofaciodigital Syndrome Vii

Expression for Orofaciodigital Syndrome Vii

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

Pathways for Orofaciodigital Syndrome Vii

GO Terms for Orofaciodigital Syndrome Vii

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

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 8.62 TMEM216 GLI3

Sources for Orofaciodigital Syndrome Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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