OFD16
MCID: ORF046
MIFTS: 27

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

Aliases & Classifications for Orofaciodigital Syndrome Xvi

MalaCards integrated aliases for Orofaciodigital Syndrome Xvi:

Name: Orofaciodigital Syndrome Xvi 58 12 76 30 6
Oral-Facial-Digital Syndrome, Type Xvi 58 76
Ofds Xvi 58 76
Ofd16 58 76
Orofaciodigital Syndrome 16 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



Summaries for Orofaciodigital Syndrome Xvi

UniProtKB/Swiss-Prot : 76 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, also known as oral-facial-digital syndrome, type xvi, is related to meckel syndrome 13 and leukoencephalopathy, brain calcifications, and cysts. 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

Description from OMIM: 617563

Related Diseases for Orofaciodigital Syndrome Xvi

Symptoms & Phenotypes for Orofaciodigital Syndrome Xvi

Human phenotypes related to Orofaciodigital Syndrome Xvi:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 ataxia 33 HP:0001251
3 global developmental delay 33 HP:0001263
4 retinopathy 33 HP:0000488
5 intellectual disability, severe 33 HP:0010864
6 retrognathia 33 HP:0000278
7 inability to walk 33 HP:0002540
8 apnea 33 HP:0002104
9 ventriculomegaly 33 HP:0002119
10 oculomotor apraxia 33 HP:0000657
11 heterotopia 33 HP:0002282
12 molar tooth sign on mri 33 HP:0002419
13 short palpebral fissure 33 HP:0012745
14 hamartoma of tongue 33 HP:0011802

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

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

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
polydactyly, postaxial

Head And Neck Mouth:
lingual hamartoma
multiple frenulae
tongue cysts

Head And Neck Eyes:
ptosis
retinopathy
oculomotor apraxia
short palpebral fissures

Abdomen External Features:
inguinal hernia

Respiratory:
apnea
hyperpnea

Head And Neck Nose:
flat nasal bridge

Skeletal Feet:
polydactyly, postaxial

Neurologic Behavioral Psychiatric Manifestations:
abnormal behavior

Clinical features from OMIM:

617563

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 Xvi 30 TMEM107

Anatomical Context for Orofaciodigital Syndrome Xvi

MalaCards organs/tissues related to Orofaciodigital Syndrome Xvi:

42
Tongue, Temporal Lobe

Publications for Orofaciodigital Syndrome Xvi

Variations for Orofaciodigital Syndrome Xvi

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

76
# Symbol AA change Variation ID SNP ID
1 TMEM107 p.Glu45Gly VAR_079328

ClinVar genetic disease variations for Orofaciodigital Syndrome Xvi:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM107 NM_032354.4(TMEM107): c.316_318delTTC (p.Phe106del) deletion Pathogenic rs752171066 GRCh37 Chromosome 17, 8077891: 8077893
2 TMEM107 NM_032354.4(TMEM107): c.316_318delTTC (p.Phe106del) deletion Pathogenic rs752171066 GRCh38 Chromosome 17, 8174573: 8174575
3 TMEM107 NM_032354.4(TMEM107): c.134A> G (p.Glu45Gly) single nucleotide variant Pathogenic rs1555526172 GRCh38 Chromosome 17, 8175980: 8175980
4 TMEM107 NM_032354.4(TMEM107): c.134A> G (p.Glu45Gly) single nucleotide variant Pathogenic rs1555526172 GRCh37 Chromosome 17, 8079298: 8079298

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
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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