OTFCS1
MCID: OTF004
MIFTS: 34

Otofaciocervical Syndrome 1 (OTFCS1)

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

Aliases & Classifications for Otofaciocervical Syndrome 1

MalaCards integrated aliases for Otofaciocervical Syndrome 1:

Name: Otofaciocervical Syndrome 1 57 75 29 6 73
Otofaciocervical Syndrome 57 53 59 13 40 73
Ofc Syndrome 59 37
Otfcs 57 75
Ofc1 57 75
Ofc 57 75
Oto-Facio-Cervical Syndrome 75
Fara Chlupackova Syndrome 73
Fara-Chlupackova Syndrome 59
Orofacial Cleft 1 73
Ofc; Ofc1 57
Otfcs1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
otofaciocervical syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Otofaciocervical Syndrome 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2792Disease definitionOtofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Otofaciocervical Syndrome 1, also known as otofaciocervical syndrome, is related to fara chlupackova syndrome and orofacial cleft. An important gene associated with Otofaciocervical Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include bone, t cells and b cells, and related phenotypes are high palate and intellectual disability

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). (166780)

UniProtKB/Swiss-Prot : 75 Otofaciocervical syndrome 1: 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 1

Diseases in the Otofaciocervical Syndrome 1 family:

Otofaciocervical Syndrome 2

Diseases related to Otofaciocervical Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 fara chlupackova syndrome 12.5
2 orofacial cleft 11.3
3 orofacial cleft 1 11.2
4 microcephaly 5, primary, autosomal recessive 11.1
5 osteitis fibrosa 11.1
6 otofaciocervical syndrome 2 11.1
7 perrault syndrome 1 11.1
8 orofacial cleft 2 11.1
9 duane retraction syndrome 1 10.1
10 cleft lip 10.1
11 cleft lip/palate 10.1
12 metachondromatosis 10.0
13 severe combined immunodeficiency 10.0
14 branchiootorenal syndrome 10.0
15 combined t cell and b cell immunodeficiency 10.0

Graphical network of the top 20 diseases related to Otofaciocervical Syndrome 1:



Diseases related to Otofaciocervical Syndrome 1

Symptoms & Phenotypes for Otofaciocervical Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Facies:
long face
narrow nose
sunken nasal root

Ears:
conductive hearing loss
preauricular fistulas
prominent auricles
large conchae

Thorax:
sloping shoulders
low-set clavicles
winged scapulas

Neck:
long neck
lateral cervical fistulas

Neuro:
mild mental retardation


Clinical features from OMIM:

166780

Human phenotypes related to Otofaciocervical Syndrome 1:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
4 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
5 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
8 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
9 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
12 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
13 abnormal dermatoglyphics 59 32 hallmark (90%) Very frequent (99-80%) HP:0007477
14 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
15 scapular winging 59 32 hallmark (90%) Very frequent (99-80%) HP:0003691
16 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
17 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738
18 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
19 down-sloping shoulders 59 32 hallmark (90%) Very frequent (99-80%) HP:0200021
20 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
21 abnormality of the clavicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000889
22 atresia of the external auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0000413
23 preauricular pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0004467
24 intellectual disability, mild 32 HP:0001256
25 long face 32 HP:0000276
26 narrow nose 32 HP:0000460
27 long neck 32 HP:0000472

Drugs & Therapeutics for Otofaciocervical Syndrome 1

Search Clinical Trials , NIH Clinical Center for Otofaciocervical Syndrome 1

Genetic Tests for Otofaciocervical Syndrome 1

Genetic tests related to Otofaciocervical Syndrome 1:

# Genetic test Affiliating Genes
1 Otofaciocervical Syndrome 1 29 EYA1

Anatomical Context for Otofaciocervical Syndrome 1

MalaCards organs/tissues related to Otofaciocervical Syndrome 1:

41
Bone, T Cells, B Cells

Publications for Otofaciocervical Syndrome 1

Articles related to Otofaciocervical Syndrome 1:

# Title Authors Year
1
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. ( 29681087 )
2018
2
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. ( 28657137 )
2017
3
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. ( 27240490 )
2016
4
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. ( 23851939 )
2013
5
Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome. ( 8558563 )
1995

Variations for Otofaciocervical Syndrome 1

ClinVar genetic disease variations for Otofaciocervical Syndrome 1:

6 (show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh37 Chromosome 8, 72129011: 72129011
2 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh38 Chromosome 8, 71216776: 71216776
3 EYA1 NM_000503.5(EYA1): c.639+1G> A single nucleotide variant Pathogenic rs869025180 GRCh37 Chromosome 8, 72211872: 72211872
4 EYA1 NM_000503.5(EYA1): c.639+1G> A single nucleotide variant Pathogenic rs869025180 GRCh38 Chromosome 8, 71299637: 71299637
5 EYA1 NM_172058.3(EYA1): c.1278C> T (p.Gly426=) single nucleotide variant Benign rs4738118 GRCh37 Chromosome 8, 72129009: 72129009
6 EYA1 NM_172058.3(EYA1): c.1278C> T (p.Gly426=) single nucleotide variant Benign rs4738118 GRCh38 Chromosome 8, 71216774: 71216774
7 EYA1 NM_000503.5(EYA1): c.1699-3C> T single nucleotide variant Benign/Likely benign rs117149407 GRCh37 Chromosome 8, 72111658: 72111658
8 EYA1 NM_000503.5(EYA1): c.1699-3C> T single nucleotide variant Benign/Likely benign rs117149407 GRCh38 Chromosome 8, 71199423: 71199423
9 EYA1 NM_172058.3(EYA1): c.1755T> C (p.His585=) single nucleotide variant Benign rs10103397 GRCh37 Chromosome 8, 72111599: 72111599
10 EYA1 NM_172058.3(EYA1): c.1755T> C (p.His585=) single nucleotide variant Benign rs10103397 GRCh38 Chromosome 8, 71199364: 71199364
11 EYA1 NM_172058.3(EYA1): c.58C> G (p.Pro20Ala) single nucleotide variant Benign rs1445404 GRCh37 Chromosome 8, 72267083: 72267083
12 EYA1 NM_172058.3(EYA1): c.58C> G (p.Pro20Ala) single nucleotide variant Benign rs1445404 GRCh38 Chromosome 8, 71354848: 71354848
13 EYA1 NM_172058.3(EYA1): c.813A> G (p.Thr271=) single nucleotide variant Benign rs1445398 GRCh37 Chromosome 8, 72211295: 72211295
14 EYA1 NM_172058.3(EYA1): c.813A> G (p.Thr271=) single nucleotide variant Benign rs1445398 GRCh38 Chromosome 8, 71299060: 71299060
15 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh37 Chromosome 8, 72184119: 72184119
16 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh38 Chromosome 8, 71271884: 71271884
17 EYA1 NM_000503.5(EYA1): c.1141-15T> G single nucleotide variant Benign/Likely benign rs186249248 GRCh37 Chromosome 8, 72129273: 72129273
18 EYA1 NM_000503.5(EYA1): c.1141-15T> G single nucleotide variant Benign/Likely benign rs186249248 GRCh38 Chromosome 8, 71217038: 71217038
19 EYA1 NM_000503.5(EYA1): c.744G> A (p.Thr248=) single nucleotide variant Benign/Likely benign rs10098224 GRCh38 Chromosome 8, 71299129: 71299129
20 EYA1 NM_000503.5(EYA1): c.744G> A (p.Thr248=) single nucleotide variant Benign/Likely benign rs10098224 GRCh37 Chromosome 8, 72211364: 72211364
21 EYA1 NM_000503.5(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 GRCh38 Chromosome 8, 71321853: 71321853
22 EYA1 NM_000503.5(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 GRCh37 Chromosome 8, 72234088: 72234088
23 EYA1 NM_000503.5(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 GRCh37 Chromosome 8, 72111663: 72111663
24 EYA1 NM_000503.5(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 GRCh38 Chromosome 8, 71199428: 71199428
25 EYA1 NM_000503.5(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 GRCh38 Chromosome 8, 71215629: 71215629
26 EYA1 NM_000503.5(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 GRCh37 Chromosome 8, 72127864: 72127864
27 EYA1 NM_000503.5(EYA1): c.*1310G> A single nucleotide variant Likely benign rs147323889 GRCh37 Chromosome 8, 72110265: 72110265
28 EYA1 NM_000503.5(EYA1): c.*1310G> A single nucleotide variant Likely benign rs147323889 GRCh38 Chromosome 8, 71198030: 71198030
29 EYA1 NM_000503.5(EYA1): c.*23G> A single nucleotide variant Likely benign rs373876510 GRCh37 Chromosome 8, 72111552: 72111552
30 EYA1 NM_000503.5(EYA1): c.*23G> A single nucleotide variant Likely benign rs373876510 GRCh38 Chromosome 8, 71199317: 71199317
31 EYA1 NM_000503.5(EYA1): c.1475+15G> A single nucleotide variant Likely benign rs373917012 GRCh37 Chromosome 8, 72127834: 72127834
32 EYA1 NM_000503.5(EYA1): c.1475+15G> A single nucleotide variant Likely benign rs373917012 GRCh38 Chromosome 8, 71215599: 71215599
33 EYA1 NM_000503.5(EYA1): c.1258T> C (p.Leu420=) single nucleotide variant Likely benign rs200074362 GRCh37 Chromosome 8, 72129029: 72129029
34 EYA1 NM_000503.5(EYA1): c.1258T> C (p.Leu420=) single nucleotide variant Likely benign rs200074362 GRCh38 Chromosome 8, 71216794: 71216794
35 EYA1 NM_000503.5(EYA1): c.1200-11C> A single nucleotide variant Benign/Likely benign rs181457812 GRCh37 Chromosome 8, 72129098: 72129098
36 EYA1 NM_000503.5(EYA1): c.1200-11C> A single nucleotide variant Benign/Likely benign rs181457812 GRCh38 Chromosome 8, 71216863: 71216863
37 EYA1 NM_000503.5(EYA1): c.966+4C> T single nucleotide variant Benign/Likely benign rs139429307 GRCh37 Chromosome 8, 72183989: 72183989
38 EYA1 NM_000503.5(EYA1): c.966+4C> T single nucleotide variant Benign/Likely benign rs139429307 GRCh38 Chromosome 8, 71271754: 71271754
39 EYA1 NM_000503.5(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 GRCh37 Chromosome 8, 72229782: 72229782
40 EYA1 NM_000503.5(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 GRCh38 Chromosome 8, 71317547: 71317547
41 EYA1 NM_000503.5(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 GRCh38 Chromosome 8, 71361834: 71361834
42 EYA1 NM_000503.5(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 GRCh37 Chromosome 8, 72274069: 72274069
43 EYA1 NM_000503.5(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 GRCh37 Chromosome 8, 72274090: 72274090
44 EYA1 NM_000503.5(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 GRCh38 Chromosome 8, 71361855: 71361855
45 EYA1 NM_000503.5(EYA1): c.-271G> A single nucleotide variant Benign rs73684755 GRCh37 Chromosome 8, 72274098: 72274098
46 EYA1 NM_000503.5(EYA1): c.-271G> A single nucleotide variant Benign rs73684755 GRCh38 Chromosome 8, 71361863: 71361863
47 EYA1 NM_000503.5(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 GRCh37 Chromosome 8, 72274256: 72274256
48 EYA1 NM_000503.5(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 GRCh38 Chromosome 8, 71362021: 71362021
49 EYA1 NM_000503.5(EYA1): c.-508A> G single nucleotide variant Uncertain significance rs886063095 GRCh37 Chromosome 8, 72274335: 72274335
50 EYA1 NM_000503.5(EYA1): c.-508A> G single nucleotide variant Uncertain significance rs886063095 GRCh38 Chromosome 8, 71362100: 71362100

Expression for Otofaciocervical Syndrome 1

Search GEO for disease gene expression data for Otofaciocervical Syndrome 1.

Pathways for Otofaciocervical Syndrome 1

GO Terms for Otofaciocervical Syndrome 1

Biological processes related to Otofaciocervical Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pattern specification process GO:0007389 8.62 EYA1 PAX1

Sources for Otofaciocervical Syndrome 1

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
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45 MESH via Orphanet
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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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