OFD18
MCID: ORF052
MIFTS: 24

Orofaciodigital Syndrome Xviii (OFD18)

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 Xviii

MalaCards integrated aliases for Orofaciodigital Syndrome Xviii:

Name: Orofaciodigital Syndrome Xviii 57 6
Ofds Xviii 57 75
Ofd18 57 75
Oral-Facial-Digital Syndrome, Type Xviii 57
Oral-Facial-Digital Syndrome Xviii 75
Orofaciodigital Syndrome 18 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of 3 indian siblings (last curated march 2018)


Classifications:



External Ids:

OMIM 57 617927
MedGen 42 CN244546
MeSH 44 D009958

Summaries for Orofaciodigital Syndrome Xviii

UniProtKB/Swiss-Prot : 75 Orofaciodigital syndrome 18: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.

MalaCards based summary : Orofaciodigital Syndrome Xviii, also known as ofds xviii, is related to oral-facial-digital syndrome with short stature and brachymesophalangy. An important gene associated with Orofaciodigital Syndrome Xviii is IFT57 (Intraflagellar Transport 57). Affiliated tissues include bone and eye, and related phenotypes are wide nasal bridge and prominent nasal bridge

OMIM : 57 Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016). (617927)

Related Diseases for Orofaciodigital Syndrome Xviii

Symptoms & Phenotypes for Orofaciodigital Syndrome Xviii

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum

Head And Neck Face:
short philtrum
small forehead
square face

Skeletal Hands:
postaxial polydactyly
short distal phalanges
short middle phalanges
marked brachydactyly
partial syndactyly of digits 3-5 (in some patients)

Skeletal:
delayed bone age

Head And Neck Teeth:
absent lower central incisors
diastema of upper incisors

Head And Neck Mouth:
multiple oral frenula
cleft lip, midline

Genitourinary Bladder:
urinary incontinence (in 1 patient)
short urethra (in 1 patient)

Growth Height:
short stature

Skeletal Feet:
sandal gap
preaxial polydactyly
postaxial polydactyly

Head And Neck Nose:
broad nasal bridge
high nasal bridge
pyriform nose

Head And Neck Eyes:
upslanting palpebral fissures

Skin Nails Hair Skin:
single palmar crease

Chest Ribs Sternum Clavicles And Scapulae:
cervical ribs, bilateral (in 1 patient)

Endocrine Features:
decreased growth hormone


Clinical features from OMIM:

617927

Human phenotypes related to Orofaciodigital Syndrome Xviii:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 32 HP:0000431
2 prominent nasal bridge 32 HP:0000426
3 short philtrum 32 HP:0000322
4 brachydactyly 32 HP:0001156
5 sandal gap 32 HP:0001852
6 short distal phalanx of finger 32 HP:0009882
7 urinary incontinence 32 HP:0000020
8 accessory oral frenulum 32 HP:0000191
9 short middle phalanx of finger 32 HP:0005819
10 preaxial polydactyly 32 HP:0100258
11 cleft lip 32 HP:0410030
12 diastema 32 HP:0000699
13 postaxial polydactyly 32 HP:0100259
14 small forehead 32 HP:0000350
15 square face 32 HP:0000321

Drugs & Therapeutics for Orofaciodigital Syndrome Xviii

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xviii

Genetic Tests for Orofaciodigital Syndrome Xviii

Anatomical Context for Orofaciodigital Syndrome Xviii

MalaCards organs/tissues related to Orofaciodigital Syndrome Xviii:

41
Bone, Eye

Publications for Orofaciodigital Syndrome Xviii

Variations for Orofaciodigital Syndrome Xviii

ClinVar genetic disease variations for Orofaciodigital Syndrome Xviii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT57 NM_018010.3(IFT57): c.777G> A (p.Lys259=) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 108191521: 108191521
2 IFT57 NM_018010.3(IFT57): c.777G> A (p.Lys259=) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 107910368: 107910368
3 IFT57 NM_018010.3(IFT57): c.1168A> G (p.Met390Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 107881446: 107881446
4 IFT57 NM_018010.3(IFT57): c.1168A> G (p.Met390Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 108162599: 108162599

Expression for Orofaciodigital Syndrome Xviii

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

Pathways for Orofaciodigital Syndrome Xviii

GO Terms for Orofaciodigital Syndrome Xviii

Sources for Orofaciodigital Syndrome Xviii

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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