OTFCS2
MCID: OTF003
MIFTS: 27

Otofaciocervical Syndrome 2 (OTFCS2)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Otofaciocervical Syndrome 2

MalaCards integrated aliases for Otofaciocervical Syndrome 2:

Name: Otofaciocervical Syndrome 2 58 76 30 6 74
Otfcs2 58 76
Ofc2 58 76
Otofaciocervical Syndrome, Type 2 41
Orofacial Cleft 2 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on 1 reported family (last curated december 2013)


HPO:

33
otofaciocervical syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Otofaciocervical Syndrome 2

OMIM : 58 Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (166780). (615560)

MalaCards based summary : Otofaciocervical Syndrome 2, also known as otfcs2, is related to orofacial cleft and orofacial cleft 2. An important gene associated with Otofaciocervical Syndrome 2 is PAX1 (Paired Box 1). The drugs Histamine and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are clinodactyly and dental malocclusion

UniProtKB/Swiss-Prot : 76 Otofaciocervical syndrome 2: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.

Related Diseases for Otofaciocervical Syndrome 2

Diseases in the Otofaciocervical Syndrome 1 family:

Otofaciocervical Syndrome 2

Diseases related to Otofaciocervical Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofacial cleft 11.7
2 orofacial cleft 2 11.2
3 cone-rod dystrophy and hearing loss 2 11.1
4 otofaciocervical syndrome 1 10.1

Symptoms & Phenotypes for Otofaciocervical Syndrome 2

Human phenotypes related to Otofaciocervical Syndrome 2:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 33 occasional (7.5%) HP:0030084
2 dental malocclusion 33 occasional (7.5%) HP:0000689
3 intellectual disability, moderate 33 occasional (7.5%) HP:0002342
4 blue sclerae 33 occasional (7.5%) HP:0000592
5 tapered finger 33 occasional (7.5%) HP:0001182
6 mastoiditis 33 occasional (7.5%) HP:0000265
7 low-set ears 33 HP:0000369
8 carious teeth 33 HP:0000670
9 scapular winging 33 HP:0003691
10 microretrognathia 33 HP:0000308
11 preauricular pit 33 HP:0004467
12 alacrima 33 HP:0000522
13 mixed hearing impairment 33 HP:0000410
14 lacrimal duct stenosis 33 HP:0007678

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
hearing loss, mixed conductive-sensorineural
simple cup-shaped ears
preauricular fistulas, bilateral

Head And Neck Eyes:
alacrima
nasolacrimal duct stenosis
blue sclerae (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
winged scapulae
protruding shoulders

Skeletal Hands:
tapering fingers (in some patients)
clinodactyly (in some patients)

Skeletal Spine:
anterior scalloping, lower thoracic and lumbar vertebral bodies (in some patients)
fusion defect at l5/s1 (in some patients)

Neurologic Central Nervous System:
intellectual disability, moderate (in some patients)
developmental delay, moderate (in some patients)
periventricular white matter gliosis (in some patients)

Head And Neck Face:
microretrognathia

Head And Neck Teeth:
dental caries
malocclusion (in some patients)

Head And Neck Nose:
nasolacrimal duct stenosis

Skeletal Skull:
mastoiditis, bilateral (in some patients)

Skeletal Feet:
cutaneous syndactyly, second and third toes (in some patients)

Clinical features from OMIM:

615560

Drugs & Therapeutics for Otofaciocervical Syndrome 2

Drugs for Otofaciocervical Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 2 51-45-6 774
2
Omalizumab Approved, Investigational Phase 2 242138-07-4
3 Anti-Asthmatic Agents Phase 2
4 Anti-Allergic Agents Phase 2
5 Respiratory System Agents Phase 2
6
Histamine Phosphate Phase 2 51-74-1 65513

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Omalizumab in the Treatment of Peanut Allergy Completed NCT00949078 Phase 2 omalizumab

Search NIH Clinical Center for Otofaciocervical Syndrome 2

Genetic Tests for Otofaciocervical Syndrome 2

Genetic tests related to Otofaciocervical Syndrome 2:

# Genetic test Affiliating Genes
1 Otofaciocervical Syndrome 2 30 PAX1

Anatomical Context for Otofaciocervical Syndrome 2

MalaCards organs/tissues related to Otofaciocervical Syndrome 2:

42
Bone

Publications for Otofaciocervical Syndrome 2

Articles related to Otofaciocervical Syndrome 2:

# Title Authors Year
1
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. ( 29681087 )
2018
2
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. ( 23851939 )
2013

Variations for Otofaciocervical Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Otofaciocervical Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 PAX1 p.Gly166Val VAR_070922 rs540296842

ClinVar genetic disease variations for Otofaciocervical Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX1 NM_001257096.1(PAX1): c.497G> T (p.Gly166Val) single nucleotide variant Pathogenic rs540296842 GRCh37 Chromosome 20, 21687286: 21687286
2 PAX1 NM_001257096.1(PAX1): c.497G> T (p.Gly166Val) single nucleotide variant Pathogenic rs540296842 GRCh38 Chromosome 20, 21706648: 21706648
3 PAX1 NM_006192.4(PAX1): c.1169_1173dup (p.Pro392Alafs) duplication Likely pathogenic rs1555804780 GRCh37 Chromosome 20, 21689969: 21689973
4 PAX1 NM_006192.4(PAX1): c.1169_1173dup (p.Pro392Alafs) duplication Likely pathogenic rs1555804780 GRCh38 Chromosome 20, 21709331: 21709335

Expression for Otofaciocervical Syndrome 2

Search GEO for disease gene expression data for Otofaciocervical Syndrome 2.

Pathways for Otofaciocervical Syndrome 2

GO Terms for Otofaciocervical Syndrome 2

Sources for Otofaciocervical Syndrome 2

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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