OFD9
MCID: ORF043
MIFTS: 37

Orofaciodigital Syndrome Ix (OFD9)

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 Ix

MalaCards integrated aliases for Orofaciodigital Syndrome Ix:

Name: Orofaciodigital Syndrome Ix 56 12 52 6 15
Orofaciodigital Syndrome with Retinal Abnormalities 56 12 52 58
Ofd9 56 12 52 58
Oral-Facial-Digital Syndrome with Retinal Abnormalities 56 52 58
Orofaciodigital Syndrome 9 52 43 71
Oral-Facial-Digital Syndrome Type 9 52 58
Oral-Facial-Digital Syndrome, Type Ix 56
Oral Facial Digital Syndrome Type 9 52
Orofaciodigital Syndrome, Type Ix 39
Orofaciodigital Syndrome Type 9 58
Oral Facial Digital Syndrome 9 52
Ofd Syndrome 9 52
Ofds Ix 56
Ofds 9 52

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
mild manifestations in carrier females (cleft lip, cleft tongue)


HPO:

31
orofaciodigital syndrome ix:
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Orofaciodigital Syndrome Ix

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141007 Definition Oral-facial-digital syndrome , type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus , broad and/or bifid nasal tip, short stature , bifid halluces, forked metatarsal, poly- and syndactyly , mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Epidemiology Less than ten cases have been described in the literature. Clinical description Recurrent aspiration pneumonia and severe microcephaly have been reported occasionally. Etiology The causative gene has not yet been identified. Genetic counseling Autosomal and X-linked recessive inheritance were initially suggested. Taking into consideration all reported cases so far, autosomal recessive inheritance seems most likely. Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Ix, also known as orofaciodigital syndrome with retinal abnormalities, is related to cleft palate, isolated and coloboma of macula. An important gene associated with Orofaciodigital Syndrome Ix is SCLT1 (Sodium Channel And Clathrin Linker 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include tongue, bone and brain, and related phenotypes are global developmental delay and hypertelorism

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has material basis in autosomal recessive inheritance.

More information from OMIM: 258865

Related Diseases for Orofaciodigital Syndrome Ix

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



Diseases related to Orofaciodigital Syndrome Ix

Symptoms & Phenotypes for Orofaciodigital Syndrome Ix

Human phenotypes related to Orofaciodigital Syndrome Ix:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hypertelorism 31 HP:0000316
3 abnormality of the dentition 31 HP:0000164
4 microcephaly 31 HP:0000252
5 short stature 31 HP:0004322
6 strabismus 31 HP:0000486
7 cleft palate 31 HP:0000175
8 high palate 31 HP:0000218
9 telecanthus 31 HP:0000506
10 hand polydactyly 31 HP:0001161
11 toe syndactyly 31 HP:0001770
12 median cleft lip 31 HP:0000161
13 hamartoma 31 HP:0010566
14 broad nasal tip 31 HP:0000455
15 milia 31 HP:0001056
16 recurrent aspiration pneumonia 31 HP:0002100
17 accessory oral frenulum 31 HP:0000191
18 short tibia 31 HP:0005736
19 camptodactyly 31 HP:0012385
20 brain atrophy 31 HP:0012444
21 bifid nasal tip 31 HP:0000456
22 retinal coloboma 31 HP:0000480
23 hypoplasia of the epiglottis 31 HP:0005349

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus
retinal coloboma
duane syndrome (rare)

Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
bifid nasal tip

Respiratory Lung:
recurrent aspiration pneumonia

Neurologic Central Nervous System:
brain atrophy
developmental delay
migrational abnormalities

Skeletal Limbs:
short tibiae

Head And Neck Teeth:
absent teeth

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
median cleft lip
high-arched palate
oral frenula
tongue lobulation
more
Skin Nails Hair Skin:
milia

Skeletal Hands:
camptodactyly
polydactyly
syndactyly
brachyphalangia
carpal shortening

Skeletal Feet:
syndactyly
bifid halluces
forked metatarsal
tarsal shortening

Respiratory Larynx:
hypoplastic epiglottis

Genitourinary External Genitalia Female:
absent clitoris (rare)

Clinical features from OMIM:

258865

Drugs & Therapeutics for Orofaciodigital Syndrome Ix

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Ix

Cochrane evidence based reviews: orofaciodigital syndrome 9

Genetic Tests for Orofaciodigital Syndrome Ix

Anatomical Context for Orofaciodigital Syndrome Ix

MalaCards organs/tissues related to Orofaciodigital Syndrome Ix:

40
Tongue, Bone, Brain

Publications for Orofaciodigital Syndrome Ix

Articles related to Orofaciodigital Syndrome Ix:

# Title Authors PMID Year
1
Oral-facial-digital syndrome with retinal abnormalities: report of a new case. 56 61
8669453 1996
2
Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report. 56 61
8074150 1994
3
Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) 61 56
1554016 1992
4
Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. 56
18000902 2007
5
Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation. 56
9598735 1998
6
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 56
2309783 1990

Variations for Orofaciodigital Syndrome Ix

ClinVar genetic disease variations for Orofaciodigital Syndrome Ix:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCLT1 NM_144643.4(SCLT1):c.1294-1_1294dupduplication Uncertain significance 599231 rs1560875393 4:129867306-129867307 4:128946151-128946152

Expression for Orofaciodigital Syndrome Ix

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

Pathways for Orofaciodigital Syndrome Ix

GO Terms for Orofaciodigital Syndrome Ix

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.07 SCLT1 POC1B NEDD1 KIF24 CEP350 CEP19
2 cell projection GO:0042995 9.76 POC1B CEP350 CEP19 CCDC120
3 centrosome GO:0005813 9.73 SCLT1 POC1B NEDD1 CEP350 CEP19 CEP162
4 microtubule organizing center GO:0005815 9.71 POC1B NEDD1 CEP350 CEP128
5 cytoskeleton GO:0005856 9.65 SCLT1 POC1B NEDD1 KIF24 CEP350 CEP19
6 spindle pole GO:0000922 9.62 POC1B NEDD1 CEP19 CEP128
7 ciliary basal body GO:0036064 9.61 POC1B NEDD1 CEP19
8 centriolar subdistal appendage GO:0120103 9.33 CEP128 CCDC68 CCDC120
9 centriole GO:0005814 9.32 SCLT1 POC1B NEDD1 KIF24 CEP350 CEP19

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

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.56 POC1B KIF24 CEP19 CEP162
2 protein localization GO:0008104 9.5 CEP128 CCDC68 CCDC120
3 ciliary basal body-plasma membrane docking GO:0097711 9.46 SCLT1 NEDD1 KIF24 CEP162
4 cilium assembly GO:0060271 9.35 SCLT1 POC1B KIF24 CEP19 CEP162
5 microtubule anchoring at centrosome GO:0034454 8.8 CEP19 CCDC68 CCDC120

Sources for Orofaciodigital Syndrome Ix

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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