OFD16
MCID: ORF046
MIFTS: 24

Orofaciodigital Syndrome Xvi (OFD16)

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 Xvi

MalaCards integrated aliases for Orofaciodigital Syndrome Xvi:

Name: Orofaciodigital Syndrome Xvi 57 12 72
Orofaciodigital Syndrome 16 72 29 6
Oral-Facial-Digital Syndrome, Type Xvi 57 72
Ofds Xvi 57 72
Ofd16 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
three patients from 2 unrelated families have been reported (last curated july 2017)


HPO:

31
orofaciodigital syndrome xvi:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Xvi

UniProtKB/Swiss-Prot : 72 Orofaciodigital syndrome 16: 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. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive.

MalaCards based summary : Orofaciodigital Syndrome Xvi, is also known as orofaciodigital syndrome 16. An important gene associated with Orofaciodigital Syndrome Xvi is TMEM107 (Transmembrane Protein 107). Affiliated tissues include tongue and temporal lobe, and related phenotypes are ptosis and ataxia

Disease Ontology : 12 An orofaciodigital syndrome that has material basis in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.

More information from OMIM: 617563 PS311200

Related Diseases for Orofaciodigital Syndrome Xvi

Symptoms & Phenotypes for Orofaciodigital Syndrome Xvi

Human phenotypes related to Orofaciodigital Syndrome Xvi:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 ataxia 31 HP:0001251
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 inguinal hernia 31 HP:0000023
6 retinopathy 31 HP:0000488
7 intellectual disability, severe 31 HP:0010864
8 retrognathia 31 HP:0000278
9 low-set ears 31 HP:0000369
10 ventriculomegaly 31 HP:0002119
11 apnea 31 HP:0002104
12 postaxial hand polydactyly 31 HP:0001162
13 gray matter heterotopia 31 HP:0002282
14 molar tooth sign on mri 31 HP:0002419
15 oculomotor apraxia 31 HP:0000657
16 generalized hypotonia 31 HP:0001290
17 short palpebral fissure 31 HP:0012745
18 inability to walk 31 HP:0002540
19 hamartoma of tongue 31 HP:0011802

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
retinopathy
oculomotor apraxia
short palpebral fissures

Abdomen External Features:
inguinal hernia

Head And Neck Ears:
low-set ears

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
flat nasal bridge

Skeletal Hands:
polydactyly, postaxial

Neurologic Central Nervous System:
ataxia
intellectual disability, severe
inability to walk
enlarged ventricles
delayed psychomotor development
more
Head And Neck Face:
retrognathia
orofacial dyspraxia
frontal narrowing

Respiratory:
apnea
hyperpnea

Neurologic Behavioral Psychiatric Manifestations:
abnormal behavior

Head And Neck Mouth:
multiple frenula
lingual hamartoma
tongue cysts

Skeletal Feet:
polydactyly, postaxial

Clinical features from OMIM®:

617563 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orofaciodigital Syndrome Xvi

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xvi

Genetic Tests for Orofaciodigital Syndrome Xvi

Genetic tests related to Orofaciodigital Syndrome Xvi:

# Genetic test Affiliating Genes
1 Orofaciodigital Syndrome 16 29 TMEM107

Anatomical Context for Orofaciodigital Syndrome Xvi

MalaCards organs/tissues related to Orofaciodigital Syndrome Xvi:

40
Tongue, Temporal Lobe

Publications for Orofaciodigital Syndrome Xvi

Articles related to Orofaciodigital Syndrome Xvi:

# Title Authors PMID Year
1
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. 57 6
26518474 2016
2
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 6 57
26595381 2016
3
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. 57
23523602 2013

Variations for Orofaciodigital Syndrome Xvi

ClinVar genetic disease variations for Orofaciodigital Syndrome Xvi:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM107 NM_183065.4(TMEM107):c.134A>G (p.Glu45Gly) SNV Pathogenic 430703 rs1555526172 GRCh37: 17:8079298-8079298
GRCh38: 17:8175980-8175980
2 TMEM107 NM_183065.4(TMEM107):c.295_297TTC[1] (p.Phe100del) Microsatellite Pathogenic 212717 rs752171066 GRCh37: 17:8077891-8077893
GRCh38: 17:8174573-8174575

UniProtKB/Swiss-Prot genetic disease variations for Orofaciodigital Syndrome Xvi:

72
# Symbol AA change Variation ID SNP ID
1 TMEM107 p.Glu45Gly VAR_079328 rs155552617

Expression for Orofaciodigital Syndrome Xvi

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

Pathways for Orofaciodigital Syndrome Xvi

GO Terms for Orofaciodigital Syndrome Xvi

Sources for Orofaciodigital Syndrome Xvi

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