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 57 72 29 6 70
Otfcs2 57 72
Ofc2 57 72
Otofaciocervical Syndrome, Type 2 39
Orofacial Cleft 2 70

Characteristics:

OMIM®:

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


HPO:

31
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) (Updated 05-Apr-2021)

MalaCards based summary : Otofaciocervical Syndrome 2, also known as otfcs2, is related to orofacial cleft 2 and orofacial cleft. An important gene associated with Otofaciocervical Syndrome 2 is PAX1 (Paired Box 1). Affiliated tissues include thymus and testis, and related phenotypes are dental malocclusion and intellectual disability, moderate

UniProtKB/Swiss-Prot : 72 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 orofacial cleft 2 11.2
2 orofacial cleft 11.1
3 otofaciocervical syndrome 1 11.0
4 alacrima, achalasia, and mental retardation syndrome 10.1
5 cleft palate, isolated 9.9
6 squamous cell carcinoma, head and neck 9.9
7 cervical cancer 9.9
8 endometrial cancer 9.9
9 cleft lip 9.9
10 ovarian epithelial cancer 9.9
11 cleft lip with or without cleft palate 9.9

Graphical network of the top 20 diseases related to Otofaciocervical Syndrome 2:



Diseases related to Otofaciocervical Syndrome 2

Symptoms & Phenotypes for Otofaciocervical Syndrome 2

Human phenotypes related to Otofaciocervical Syndrome 2:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 dental malocclusion 31 occasional (7.5%) HP:0000689
2 intellectual disability, moderate 31 occasional (7.5%) HP:0002342
3 blue sclerae 31 occasional (7.5%) HP:0000592
4 tapered finger 31 occasional (7.5%) HP:0001182
5 clinodactyly 31 occasional (7.5%) HP:0030084
6 mastoiditis 31 occasional (7.5%) HP:0000265
7 carious teeth 31 HP:0000670
8 low-set ears 31 HP:0000369
9 scapular winging 31 HP:0003691
10 microretrognathia 31 HP:0000308
11 preauricular pit 31 HP:0004467
12 alacrima 31 HP:0000522
13 mixed hearing impairment 31 HP:0000410
14 lacrimal duct stenosis 31 HP:0007678

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Head And Neck Ears:
low-set ears
hearing loss, mixed conductive-sensorineural
middle ear abnormalities
simple cup-shaped ears
preauricular fistulas, bilateral
more
Head And Neck Teeth:
dental caries
malocclusion (in some patients)

Head And Neck Nose:
nasolacrimal duct stenosis

Genitourinary Internal Genitalia Male:
undescended testis

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

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 Eyes:
hypertelorism
long eyelashes
alacrima
downslanting palpebral fissures
nasolacrimal duct stenosis
more
Head And Neck Face:
microretrognathia

Chest Ribs Sternum Clavicles And Scapulae:
winged scapulae
abnormal clavicles
protruding shoulders

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

Skeletal Skull:
mastoiditis, bilateral (in some patients)

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

Immunology:
aplastic thymus
underdeveloped thymus
severe combined immunodeficiency (in 1 family)

Clinical features from OMIM®:

615560 (Updated 05-Apr-2021)

Drugs & Therapeutics for Otofaciocervical Syndrome 2

Search Clinical Trials , 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

MalaCards organs/tissues related to Otofaciocervical Syndrome 2:

40
Thymus, Testis

Publications for Otofaciocervical Syndrome 2

Articles related to Otofaciocervical Syndrome 2:

# Title Authors PMID Year
1
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. 6 57 61
29681087 2018
2
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. 57 6
28657137 2017
3
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. 57 6
23851939 2013
4
Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models. 61
32431714 2020

Variations for Otofaciocervical Syndrome 2

ClinVar genetic disease variations for Otofaciocervical Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX1 NM_006192.5(PAX1):c.497G>T (p.Gly166Val) SNV Pathogenic 89026 rs540296842 GRCh37: 20:21687286-21687286
GRCh38: 20:21706648-21706648
2 PAX1 NM_006192.5(PAX1):c.1104C>A (p.Cys368Ter) SNV Pathogenic 800553 rs1158294764 GRCh37: 20:21689904-21689904
GRCh38: 20:21709266-21709266
3 PAX1 NM_006192.5(PAX1):c.1169_1173dup (p.Pro392fs) Duplication Likely pathogenic 522604 rs1555804780 GRCh37: 20:21689967-21689968
GRCh38: 20:21709329-21709330
4 PAX1 NM_006192.5(PAX1):c.1181C>T (p.Pro394Leu) SNV Uncertain significance 828160 rs767129610 GRCh37: 20:21689981-21689981
GRCh38: 20:21709343-21709343
5 PAX1 NM_001257096.2(PAX1):c.95C>T (p.Ala32Val) SNV Uncertain significance 1031025 GRCh37: 20:21686445-21686445
GRCh38: 20:21705807-21705807
6 PAX1 NM_001257096.2(PAX1):c.986C>G (p.Thr329Arg) SNV Uncertain significance 1031026 GRCh37: 20:21689265-21689265
GRCh38: 20:21708627-21708627

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

72
# Symbol AA change Variation ID SNP ID
1 PAX1 p.Gly166Val VAR_070922 rs540296842

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
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
Content
Loading form....