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

Aliases & Classifications for Orofaciodigital Syndrome Iii

MalaCards integrated aliases for Orofaciodigital Syndrome Iii:

Name: Orofaciodigital Syndrome Iii 58 12 54
Sugarman Syndrome 58 12 77 54 60
Orofaciodigital Syndrome 3 54 45 74
Ofd3 58 54 60
Oral Facial Digital Syndrome Type 3 77 54
Oral-Facial-Digital Syndrome Type 3 54 60
Oral-Facial-Digital Syndrome, Type Iii 58
Orofaciodigital Syndrome Type 3 60
Oral Facial Digital Syndrome 3 54
Ofd Syndrome 3 54
Ofds Iii 58
Ofds 3 54

Characteristics:

Orphanet epidemiological data:

60
orofaciodigital syndrome type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
orofaciodigital syndrome iii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Iii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2752Disease definitionOral-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 kidney, 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 : 77 Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one... more...

Description from OMIM: 258850

Related Diseases for Orofaciodigital Syndrome Iii

Symptoms & Phenotypes for Orofaciodigital Syndrome Iii

Human phenotypes related to Orofaciodigital Syndrome Iii:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
3 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
4 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
5 intellectual disability, severe 60 33 frequent (33%) Frequent (79-30%) HP:0010864
6 myoclonus 60 33 frequent (33%) Frequent (79-30%) HP:0001336
7 short sternum 60 33 frequent (33%) Frequent (79-30%) HP:0000879
8 bulbous nose 60 33 frequent (33%) Frequent (79-30%) HP:0000414
9 thoracic kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002942
10 postaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001162
11 postaxial foot polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001830
12 dandy-walker malformation 60 33 frequent (33%) Frequent (79-30%) HP:0001305
13 bifid uvula 60 33 frequent (33%) Frequent (79-30%) HP:0000193
14 oculomotor apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0000657
15 stage 5 chronic kidney disease 60 33 frequent (33%) Frequent (79-30%) HP:0003774
16 eyelid myoclonias 60 33 frequent (33%) Frequent (79-30%) HP:0011168
17 exotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000577
18 hamartoma of tongue 60 33 frequent (33%) Frequent (79-30%) HP:0011802
19 lobulated tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000180
20 suprasellar arachnoid cyst 60 33 frequent (33%) Frequent (79-30%) HP:0012489
21 irregular dentition 60 33 frequent (33%) Frequent (79-30%) HP:0040079
22 cherry red spot of the macula 60 33 occasional (7.5%) Occasional (29-5%) HP:0010729
23 seesaw nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0012044
24 intellectual disability 33 HP:0001249
25 kyphosis 33 HP:0002808
26 abnormality of the dentition 60 Frequent (79-30%)
27 abnormality of the cardiovascular system 60 Excluded (0%)
28 microdontia 33 HP:0000691
29 increased number of teeth 33 HP:0011069
30 cerebellar vermis hypoplasia 60 Frequent (79-30%)
31 hyperconvex nail 33 HP:0001795
32 bifid tongue 33 HP:0010297
33 abnormal involuntary eye movements 60 Frequent (79-30%)
34 abnormality of hair texture 60 Excluded (0%)
35 abnormality of skeletal morphology 60 Excluded (0%)
36 tongue nodules 33 HP:0000199

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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:

42
Eye, Tongue, Kidney, Bone

Publications for Orofaciodigital Syndrome Iii

Variations for Orofaciodigital Syndrome Iii

ClinVar genetic disease variations for Orofaciodigital Syndrome Iii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CELSR2 NM_001408.2(CELSR2): c.8235_8246dupAGAAGAGGAGGA (p.Glu2752_Ala2753insGluGluGluGlu) duplication Likely pathogenic rs773722162 GRCh37 Chromosome 1, 109815546: 109815557
2 CELSR2 NM_001408.2(CELSR2): c.8235_8246dupAGAAGAGGAGGA (p.Glu2752_Ala2753insGluGluGluGlu) duplication Likely pathogenic rs773722162 GRCh38 Chromosome 1, 109272924: 109272935
3 IFT140 NM_014714.3(IFT140): c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) deletion Uncertain significance rs746697405 GRCh38 Chromosome 16, 1519961: 1519966
4 IFT140 NM_014714.3(IFT140): c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) deletion Uncertain significance rs746697405 GRCh37 Chromosome 16, 1569962: 1569967
5 OFD1 NM_003611.2(OFD1): c.1246delC (p.Gln416Serfs) deletion Pathogenic rs886039813 GRCh37 Chromosome X, 13774721: 13774721
6 OFD1 NM_003611.2(OFD1): c.1246delC (p.Gln416Serfs) deletion Pathogenic rs886039813 GRCh38 Chromosome X, 13756602: 13756602

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 OFD1 TMEM231
2 cilium GO:0005929 8.62 OFD1 TMEM231

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 OFD1 TMEM231
2 cell projection organization GO:0030030 8.62 OFD1 TMEM231

Sources for Orofaciodigital Syndrome Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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