MCID: ORF038
MIFTS: 25

Orofaciodigital Syndrome Iii

Categories: Rare diseases, Neuronal diseases, Ear diseases, Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Respiratory diseases, Eye diseases, Nephrological 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 76 53 59
Orofaciodigital Syndrome 3 53 44 73
Ofd3 57 53 59
Oral Facial Digital Syndrome Type 3 76 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:

OMIM 57 258850
Disease Ontology 12 DOID:0060373
MeSH 44 C557817
SNOMED-CT 68 239030004
Orphanet 59 ORPHA2752
UMLS via Orphanet 74 C0406726
ICD10 via Orphanet 34 Q87.0
MedGen 42 C0406726
UMLS 73 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: 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 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 characterized by mental retardation, eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly of hands and feet, pectus excavatum, short sternum, and kyphosis.

Wikipedia : 76 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

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

Human phenotypes related to Orofaciodigital Syndrome Iii:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 pectus excavatum 32 HP:0000767
4 intellectual disability 32 HP:0001249
5 kyphosis 32 HP:0002808
6 myoclonus 32 HP:0001336
7 microdontia 32 HP:0000691
8 short sternum 32 HP:0000879
9 increased number of teeth 32 HP:0011069
10 bulbous nose 32 HP:0000414
11 postaxial hand polydactyly 32 HP:0001162
12 postaxial foot polydactyly 32 HP:0001830
13 bifid uvula 32 HP:0000193
14 hyperconvex nail 32 HP:0001795
15 bifid tongue 32 HP:0010297
16 tongue nodules 32 HP:0000199

UMLS symptoms related to Orofaciodigital Syndrome Iii:


myoclonus

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

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 rs886039796 GRCh37 Chromosome 1, 109815546: 109815557
2 CELSR2 NM_001408.2(CELSR2): c.8235_8246dupAGAAGAGGAGGA (p.Glu2752_Ala2753insGluGluGluGlu) duplication Likely pathogenic rs886039796 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

Sources for Orofaciodigital Syndrome Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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