OFD3
MCID: ORF038
MIFTS: 32

Orofaciodigital Syndrome Iii (OFD3)

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 Iii

MalaCards integrated aliases for Orofaciodigital Syndrome Iii:

Name: Orofaciodigital Syndrome Iii 57 12 53
Sugarman Syndrome 57 12 75 53 59
Orofaciodigital Syndrome 3 53 44 72
Ofd3 57 53 59
Oral Facial Digital Syndrome Type 3 75 53
Oral-Facial-Digital Syndrome Type 3 53 59
Oral-Facial-Digital Syndrome, Type Iii 57
Orofaciodigital Syndrome Type 3 59
Oral Facial Digital Syndrome 3 53
Ofd Syndrome 3 53
Ofds Iii 57
Ofds 3 53

Characteristics:

Orphanet epidemiological data:

59
orofaciodigital syndrome type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
orofaciodigital syndrome iii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060373
MeSH 44 C557817
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C0406726
Orphanet 59 ORPHA2752
MedGen 42 C0406726
UMLS 72 C0406726

Summaries for Orofaciodigital Syndrome Iii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2752DefinitionOral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.EpidemiologyFive cases in two families have been reported (two males and three females).Clinical descriptionMain clinical features include prominent forehead and occiput, round face with full cheeks, hypertelorism, esotropia, downslanting palpebral fissures, myoclonic twitching of the eyelids, conjugate deviation of the eyes, bifid uvula, pectus excavatum, short sternum, kyphosis, postaxial polydactyly, normal stature and severe spasticity.EtiologyThe causative gene has not yet been identified.Genetic counselingAutosomal recessive inheritance has been suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Iii, also known as sugarman syndrome, is related to sugarman brachydactyly and joubert syndrome 1, and has symptoms including myoclonus An important gene associated with Orofaciodigital Syndrome Iii is OFD1 (OFD1 Centriole And Centriolar Satellite Protein). Affiliated tissues include eye, tongue and bone, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has material basis in autosomal recessive inheritance.

Wikipedia : 75 Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one... more...

More information from OMIM: 258850 PS311200

Related Diseases for Orofaciodigital Syndrome Iii

Symptoms & Phenotypes for Orofaciodigital Syndrome Iii

Human phenotypes related to Orofaciodigital Syndrome Iii:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
4 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
5 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
6 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
7 short sternum 59 32 frequent (33%) Frequent (79-30%) HP:0000879
8 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
9 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
10 thoracic kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002942
11 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
12 postaxial foot polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001830
13 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
14 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
15 stage 5 chronic kidney disease 59 32 frequent (33%) Frequent (79-30%) HP:0003774
16 eyelid myoclonias 59 32 frequent (33%) Frequent (79-30%) HP:0011168
17 exotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000577
18 hamartoma of tongue 59 32 frequent (33%) Frequent (79-30%) HP:0011802
19 lobulated tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000180
20 suprasellar arachnoid cyst 59 32 frequent (33%) Frequent (79-30%) HP:0012489
21 irregular dentition 59 32 frequent (33%) Frequent (79-30%) HP:0040079
22 cherry red spot of the macula 59 32 occasional (7.5%) Occasional (29-5%) HP:0010729
23 seesaw nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0012044
24 intellectual disability 32 HP:0001249
25 kyphosis 32 HP:0002808
26 abnormality of the dentition 59 Frequent (79-30%)
27 abnormality of the cardiovascular system 59 Excluded (0%)
28 microdontia 32 HP:0000691
29 increased number of teeth 32 HP:0011069
30 cerebellar vermis hypoplasia 59 Frequent (79-30%)
31 hyperconvex nail 32 HP:0001795
32 bifid tongue 32 HP:0010297
33 abnormal involuntary eye movements 59 Frequent (79-30%)
34 abnormality of hair texture 59 Excluded (0%)
35 abnormality of skeletal morphology 59 Excluded (0%)
36 tongue nodules 32 HP:0000199

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
macular red spot
see-saw eye winking

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
short sternum

Head And Neck Nose:
bulbous nose

Skeletal Hands:
postaxial polydactyly

Neurologic Central Nervous System:
mental retardation
myoclonic jerks

Skin Nails Hair Nails:
hyperconvex nails

Head And Neck Ears:
low-set ears

Skeletal Spine:
kyphosis

Head And Neck Mouth:
tongue nodules
cleft uvula
cleft tongue

Skeletal Feet:
postaxial polydactyly

Head And Neck Teeth:
small teeth
extra teeth

Clinical features from OMIM:

258850

UMLS symptoms related to Orofaciodigital Syndrome Iii:


myoclonus

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 OFD1 TMEM231

Drugs & Therapeutics for Orofaciodigital Syndrome Iii

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Iii

Cochrane evidence based reviews: orofaciodigital syndrome 3

Genetic Tests for Orofaciodigital Syndrome Iii

Anatomical Context for Orofaciodigital Syndrome Iii

MalaCards organs/tissues related to Orofaciodigital Syndrome Iii:

41
Eye, Tongue, Bone, Kidney

Publications for Orofaciodigital Syndrome Iii

Articles related to Orofaciodigital Syndrome Iii:

# Title Authors PMID Year
1
Orofaciodigital syndrome type III in two sibs. 8
8230165 1993
2
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 8
2309783 1990
3
See-saw winking in a familial oral-facial-digital syndrome. 8
5004413 1971
4
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 38
25869670 2015

Variations for Orofaciodigital Syndrome Iii

ClinVar genetic disease variations for Orofaciodigital Syndrome Iii:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OFD1 NM_003611.3(OFD1): c.1246del (p.Gln416fs) deletion Pathogenic rs886039813 X:13774721-13774721 X:13756602-13756602
2 CELSR2 NM_001408.3(CELSR2): c.8235_8246dup (p.Glu2749_Glu2752dup) duplication Likely pathogenic rs773722162 1:109815546-109815557 1:109272924-109272935
3 IFT140 NM_014714.4(IFT140): c.3943_3948GCCAAG[2] (p.1315_1316AK[2]) short repeat Uncertain significance rs746697405 16:1569962-1569967 16:1519961-1519966

Expression for Orofaciodigital Syndrome Iii

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

Pathways for Orofaciodigital Syndrome Iii

GO Terms for Orofaciodigital Syndrome Iii

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 TMEM231 OFD1
2 cilium GO:0005929 8.62 TMEM231 OFD1

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 TMEM231 OFD1
2 cell projection organization GO:0030030 8.62 TMEM231 OFD1

Sources for Orofaciodigital Syndrome Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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