MCID: OTF003
MIFTS: 23

Otofaciocervical Syndrome 2

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Otofaciocervical Syndrome 2

MalaCards integrated aliases for Otofaciocervical Syndrome 2:

Name: Otofaciocervical Syndrome 2 57 75 29 6 73
Otfcs2 57 75
Ofc2 57 75
Otofaciocervical Syndrome, Type 2 40
Orofacial Cleft 2 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
otofaciocervical syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Otofaciocervical Syndrome 2

OMIM : 57 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 2. An important gene associated with Otofaciocervical Syndrome 2 is PAX1 (Paired Box 1). The drugs Omalizumab and Histamine have been mentioned in the context of this disorder. Related phenotypes are low-set ears and clinodactyly

UniProtKB/Swiss-Prot : 75 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 2 11.0

Symptoms & Phenotypes for Otofaciocervical Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Otofaciocervical Syndrome 2:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 clinodactyly 32 occasional (7.5%) HP:0030084
3 dental malocclusion 32 occasional (7.5%) HP:0000689
4 carious teeth 32 HP:0000670
5 scapular winging 32 HP:0003691
6 intellectual disability, moderate 32 occasional (7.5%) HP:0002342
7 microretrognathia 32 HP:0000308
8 blue sclerae 32 occasional (7.5%) HP:0000592
9 preauricular pit 32 HP:0004467
10 tapered finger 32 occasional (7.5%) HP:0001182
11 alacrima 32 HP:0000522
12 mixed hearing impairment 32 HP:0000410
13 lacrimal duct stenosis 32 HP:0007678
14 mastoiditis 32 occasional (7.5%) HP:0000265

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
Omalizumab Approved, Investigational Phase 2 242138-07-4
2
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
3
Histamine Phosphate Phase 2 51-74-1 65513
4 Respiratory System Agents Phase 2
5 Anti-Allergic Agents Phase 2
6 Anti-Asthmatic Agents Phase 2

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 29 PAX1

Anatomical Context for Otofaciocervical Syndrome 2

Publications for Otofaciocervical Syndrome 2

Variations for Otofaciocervical Syndrome 2

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

75
# 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 GRCh38 Chromosome 20, 21709331: 21709335
4 PAX1 NM_006192.4(PAX1): c.1169_1173dup (p.Pro392Alafs) duplication Likely pathogenic GRCh37 Chromosome 20, 21689969: 21689973

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 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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