OFD16
MCID: ORF046
MIFTS: 28

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 57 12 75 29 6
Oral-Facial-Digital Syndrome, Type Xvi 57 75
Ofds Xvi 57 75
Ofd16 57 75
Orofaciodigital Syndrome 16 75

Characteristics:

OMIM:

57
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 : 75 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, bone and eye, and related phenotypes are ptosis and ataxia

Description from OMIM: 617563

Related Diseases for Orofaciodigital Syndrome Xvi

Symptoms & Phenotypes for Orofaciodigital Syndrome Xvi

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Orofaciodigital Syndrome Xvi:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 ataxia 32 HP:0001251
3 global developmental delay 32 HP:0001263
4 retinopathy 32 HP:0000488
5 intellectual disability, severe 32 HP:0010864
6 retrognathia 32 HP:0000278
7 inability to walk 32 HP:0002540
8 apnea 32 HP:0002104
9 ventriculomegaly 32 HP:0002119
10 oculomotor apraxia 32 HP:0000657
11 heterotopia 32 HP:0002282
12 molar tooth sign on mri 32 HP:0002419
13 short palpebral fissure 32 HP:0012745
14 hamartoma of tongue 32 HP:0011802

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 29 TMEM107

Anatomical Context for Orofaciodigital Syndrome Xvi

MalaCards organs/tissues related to Orofaciodigital Syndrome Xvi:

41
Tongue, Bone, Eye, Temporal Lobe, Brain

Publications for Orofaciodigital Syndrome Xvi

Variations for Orofaciodigital Syndrome Xvi

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

75
# 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 GRCh38 Chromosome 17, 8175980: 8175980
4 TMEM107 NM_032354.4(TMEM107): c.134A> G (p.Glu45Gly) single nucleotide variant Pathogenic 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 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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