OFD3
MCID: ORF038
MIFTS: 36

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 20
Sugarman Syndrome 57 12 74 58
Orofaciodigital Syndrome 3 20 44 71
Ofd3 57 20 58
Oral Facial Digital Syndrome Type 3 74 20
Oral-Facial-Digital Syndrome Type 3 20 58
Ofds Iii 57 6
Oral-Facial-Digital Syndrome, Type Iii 57
Orofaciodigital Syndrome Type 3 58
Oral Facial Digital Syndrome 3 20
Ofd Syndrome 3 20
Ofds 3 20

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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


HPO:

31
orofaciodigital syndrome iii:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Orofaciodigital Syndrome Iii

GARD : 20 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 cystic kidney disease, 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 kidney, and related phenotypes are spasticity and hypertelorism

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

More information from OMIM: 258850

Related Diseases for Orofaciodigital Syndrome Iii

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 sugarman brachydactyly 31.0 OFD1 IFT140 CELSR2
2 cystic kidney disease 10.0 OFD1 IFT140
3 orofaciodigital syndrome 9.9 TMEM231 OFD1
4 orofaciodigital syndrome iv 9.9 TMEM231 OFD1
5 orofaciodigital syndrome v 9.9 TMEM231 OFD1
6 retinitis pigmentosa 54 9.9 TMEM231 IFT140
7 meckel syndrome, type 3 9.9 TMEM231 OFD1
8 cone-rod dystrophy 16 9.9 TMEM231 IFT140
9 ciliopathy 9.9 TMEM231 IFT140
10 short-rib thoracic dysplasia 6 with or without polydactyly 9.9 OFD1 IFT140
11 coach syndrome 1 9.9 TMEM231 OFD1
12 cranioectodermal dysplasia 9.9 OFD1 IFT140
13 orofaciodigital syndrome vi 9.8 TMEM231 OFD1
14 ellis-van creveld syndrome 9.8 OFD1 IFT140
15 polycystic kidney disease 1 with or without polycystic liver disease 9.7 OFD1 IFT140
16 senior-loken syndrome 1 9.7 TMEM231 OFD1 IFT140
17 polycystic kidney disease 4 with or without polycystic liver disease 9.7 TMEM231 OFD1 IFT140
18 short-rib thoracic dysplasia 1 with or without polydactyly 9.6 TMEM231 OFD1 IFT140
19 polydactyly 9.6 TMEM231 OFD1 IFT140
20 asphyxiating thoracic dystrophy 9.6 TMEM231 OFD1 IFT140
21 meckel syndrome, type 1 9.6 TMEM231 OFD1 IFT140
22 nephronophthisis 9.6 TMEM231 OFD1 IFT140
23 leber plus disease 9.6 TMEM231 OFD1 IFT140
24 coloboma of macula 9.6 TMEM231 OFD1
25 joubert syndrome 1 9.6 TMEM231 OFD1 IFT140
26 fundus dystrophy 9.5 TMEM231 OFD1 IFT140

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



Diseases related to Orofaciodigital Syndrome Iii

Symptoms & Phenotypes for Orofaciodigital Syndrome Iii

Human phenotypes related to Orofaciodigital Syndrome Iii:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
4 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
5 short sternum 58 31 frequent (33%) Frequent (79-30%) HP:0000879
6 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
7 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
8 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
9 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
10 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
11 postaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001830
12 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
13 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
14 hamartoma of tongue 58 31 frequent (33%) Frequent (79-30%) HP:0011802
15 lobulated tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000180
16 exotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000577
17 stage 5 chronic kidney disease 58 31 frequent (33%) Frequent (79-30%) HP:0003774
18 thoracic kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002942
19 eyelid myoclonias 58 31 frequent (33%) Frequent (79-30%) HP:0011168
20 irregular dentition 58 31 frequent (33%) Frequent (79-30%) HP:0040079
21 suprasellar arachnoid cyst 58 31 frequent (33%) Frequent (79-30%) HP:0012489
22 cherry red spot of the macula 58 31 occasional (7.5%) Occasional (29-5%) HP:0010729
23 seesaw nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0012044
24 intellectual disability 31 HP:0001249
25 kyphosis 31 HP:0002808
26 abnormality of the dentition 58 Frequent (79-30%)
27 abnormality of the cardiovascular system 58 Excluded (0%)
28 microdontia 31 HP:0000691
29 increased number of teeth 31 HP:0011069
30 cerebellar vermis hypoplasia 58 Frequent (79-30%)
31 abnormality of skeletal morphology 58 Excluded (0%)
32 hyperconvex nail 31 HP:0001795
33 bifid tongue 31 HP:0010297
34 abnormality of hair texture 58 Excluded (0%)
35 tongue nodules 31 HP:0000199
36 abnormal involuntary eye movements 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
kyphosis

Chest Ribs Sternum Clavicles And Scapulae:
short sternum
pectus excavatum

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 Eyes:
hypertelorism
macular red spot
see-saw eye winking

Head And Neck Ears:
low-set ears

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 (Updated 05-Mar-2021)

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 9.13 IFT140 OFD1 TMEM231
2 nervous system MP:0003631 8.92 CELSR2 IFT140 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:

40
Eye, Tongue, Kidney

Publications for Orofaciodigital Syndrome Iii

Articles related to Orofaciodigital Syndrome Iii:

# Title Authors PMID Year
1
Orofaciodigital syndrome type III in two sibs. 57
8230165 1993
2
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 57
2309783 1990
3
See-saw winking in a familial oral-facial-digital syndrome. 57
5004413 1971
4
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 61
25869670 2015

Variations for Orofaciodigital Syndrome Iii

ClinVar genetic disease variations for Orofaciodigital Syndrome Iii:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OFD1 NM_003611.3(OFD1):c.1246del (p.Gln416fs) Deletion Pathogenic 266104 rs886039813 X:13774719-13774719 X:13756600-13756600
2 CELSR2 NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup) Duplication Likely pathogenic 266080 rs773722162 1:109815537-109815538 1:109272915-109272916
3 IFT140 NM_014714.4(IFT140):c.3943_3948GCCAAG[2] (p.1315_1316AK[2]) Microsatellite Likely pathogenic 266103 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 9.43 TMEM231 OFD1 IFT140
2 ciliary basal body GO:0036064 9.16 OFD1 IFT140
3 centriole GO:0005814 8.96 OFD1 IFT140
4 cilium GO:0005929 8.8 TMEM231 OFD1 IFT140

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

# Name GO ID Score Top Affiliating Genes
1 regulation of protein localization GO:0032880 9.26 TMEM231 CELSR2
2 embryonic digit morphogenesis GO:0042733 9.16 TMEM231 IFT140
3 cell projection organization GO:0030030 9.13 TMEM231 OFD1 IFT140
4 cilium assembly GO:0060271 8.92 TMEM231 OFD1 IFT140 CELSR2

Sources for Orofaciodigital Syndrome Iii

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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