MCID: OTF004
MIFTS: 30

Otofaciocervical Syndrome 1

Categories: Genetic diseases, Rare diseases, Fetal 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 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 1. An important gene associated with Otofaciocervical Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Related phenotypes are high palate and full cheeks

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:

# Related Disease Score Top Affiliating Genes
1 fara chlupackova syndrome 12.4
2 orofacial cleft 1 11.0
3 otofaciocervical syndrome 2 10.9
4 duane retraction syndrome 1 9.9
5 cervicitis 9.9
6 branchiootorenal spectrum disorders 8.9 EYA1 LOC105375894

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

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

Publications for Otofaciocervical Syndrome 1

Articles related to Otofaciocervical Syndrome 1:

# Title Authors Year
1
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. ( 28657137 )
2017
2
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. ( 27240490 )
2016
3
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. ( 23851939 )
2013
4
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 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.639+1G> A single nucleotide variant Pathogenic rs869025180 GRCh37 Chromosome 8, 72211872: 72211872
2 EYA1 NM_000503.5(EYA1): c.639+1G> A single nucleotide variant Pathogenic rs869025180 GRCh38 Chromosome 8, 71299637: 71299637
3 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh37 Chromosome 8, 72184119: 72184119
4 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh38 Chromosome 8, 71271884: 71271884
5 EYA1 NM_000503.5(EYA1): c.1141-15T> G single nucleotide variant Benign/Likely benign rs186249248 GRCh37 Chromosome 8, 72129273: 72129273
6 EYA1 NM_000503.5(EYA1): c.1141-15T> G single nucleotide variant Benign/Likely benign rs186249248 GRCh38 Chromosome 8, 71217038: 71217038
7 EYA1 NM_000503.5(EYA1): c.744G> A (p.Thr248=) single nucleotide variant Benign/Likely benign rs10098224 GRCh37 Chromosome 8, 72211364: 72211364
8 EYA1 NM_000503.5(EYA1): c.744G> A (p.Thr248=) single nucleotide variant Benign/Likely benign rs10098224 GRCh38 Chromosome 8, 71299129: 71299129
9 EYA1 NM_000503.5(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 GRCh37 Chromosome 8, 72234088: 72234088
10 EYA1 NM_000503.5(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 GRCh38 Chromosome 8, 71321853: 71321853
11 EYA1 NM_000503.5(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 GRCh37 Chromosome 8, 72111663: 72111663
12 EYA1 NM_000503.5(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 GRCh38 Chromosome 8, 71199428: 71199428
13 EYA1 NM_000503.5(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 GRCh38 Chromosome 8, 71215629: 71215629
14 EYA1 NM_000503.5(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 GRCh37 Chromosome 8, 72127864: 72127864
15 EYA1 NM_000503.5(EYA1): c.*1310G> A single nucleotide variant Likely benign rs147323889 GRCh37 Chromosome 8, 72110265: 72110265
16 EYA1 NM_000503.5(EYA1): c.*1310G> A single nucleotide variant Likely benign rs147323889 GRCh38 Chromosome 8, 71198030: 71198030
17 EYA1 NM_000503.5(EYA1): c.*23G> A single nucleotide variant Likely benign rs373876510 GRCh37 Chromosome 8, 72111552: 72111552
18 EYA1 NM_000503.5(EYA1): c.*23G> A single nucleotide variant Likely benign rs373876510 GRCh38 Chromosome 8, 71199317: 71199317
19 EYA1 NM_000503.5(EYA1): c.1475+15G> A single nucleotide variant Likely benign rs373917012 GRCh38 Chromosome 8, 71215599: 71215599
20 EYA1 NM_000503.5(EYA1): c.1475+15G> A single nucleotide variant Likely benign rs373917012 GRCh37 Chromosome 8, 72127834: 72127834
21 EYA1 NM_000503.5(EYA1): c.1258T> C (p.Leu420=) single nucleotide variant Likely benign rs200074362 GRCh37 Chromosome 8, 72129029: 72129029
22 EYA1 NM_000503.5(EYA1): c.1258T> C (p.Leu420=) single nucleotide variant Likely benign rs200074362 GRCh38 Chromosome 8, 71216794: 71216794
23 EYA1 NM_000503.5(EYA1): c.1200-11C> A single nucleotide variant Benign/Likely benign rs181457812 GRCh37 Chromosome 8, 72129098: 72129098
24 EYA1 NM_000503.5(EYA1): c.1200-11C> A single nucleotide variant Benign/Likely benign rs181457812 GRCh38 Chromosome 8, 71216863: 71216863
25 EYA1 NM_000503.5(EYA1): c.966+4C> T single nucleotide variant Benign/Likely benign rs139429307 GRCh37 Chromosome 8, 72183989: 72183989
26 EYA1 NM_000503.5(EYA1): c.966+4C> T single nucleotide variant Benign/Likely benign rs139429307 GRCh38 Chromosome 8, 71271754: 71271754
27 EYA1 NM_000503.5(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 GRCh37 Chromosome 8, 72229782: 72229782
28 EYA1 NM_000503.5(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 GRCh38 Chromosome 8, 71317547: 71317547
29 EYA1 NM_000503.5(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 GRCh37 Chromosome 8, 72274069: 72274069
30 EYA1 NM_000503.5(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 GRCh38 Chromosome 8, 71361834: 71361834
31 EYA1 NM_000503.5(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 GRCh37 Chromosome 8, 72274090: 72274090
32 EYA1 NM_000503.5(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 GRCh38 Chromosome 8, 71361855: 71361855
33 EYA1 NM_000503.5(EYA1): c.-271G> A single nucleotide variant Benign rs73684755 GRCh37 Chromosome 8, 72274098: 72274098
34 EYA1 NM_000503.5(EYA1): c.-271G> A single nucleotide variant Benign rs73684755 GRCh38 Chromosome 8, 71361863: 71361863
35 EYA1 NM_000503.5(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 GRCh37 Chromosome 8, 72274256: 72274256
36 EYA1 NM_000503.5(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 GRCh38 Chromosome 8, 71362021: 71362021
37 EYA1 NM_000503.5(EYA1): c.-508A> G single nucleotide variant Uncertain significance rs886063095 GRCh37 Chromosome 8, 72274335: 72274335
38 EYA1 NM_000503.5(EYA1): c.-508A> G single nucleotide variant Uncertain significance rs886063095 GRCh38 Chromosome 8, 71362100: 71362100
39 EYA1 NM_000503.5(EYA1): c.-565_-564dupAA duplication Uncertain significance rs886063098 GRCh37 Chromosome 8, 72274391: 72274392
40 EYA1 NM_000503.5(EYA1): c.-565_-564dupAA duplication Uncertain significance rs886063098 GRCh38 Chromosome 8, 71362156: 71362157
41 EYA1 NM_000503.5(EYA1): c.-589C> A single nucleotide variant Uncertain significance rs886063099 GRCh37 Chromosome 8, 72274416: 72274416
42 EYA1 NM_000503.5(EYA1): c.-589C> A single nucleotide variant Uncertain significance rs886063099 GRCh38 Chromosome 8, 71362181: 71362181
43 EYA1 NM_000503.5(EYA1): c.*1324T> C single nucleotide variant Benign rs56115941 GRCh38 Chromosome 8, 71198016: 71198016
44 EYA1 NM_000503.5(EYA1): c.*1324T> C single nucleotide variant Benign rs56115941 GRCh37 Chromosome 8, 72110251: 72110251
45 EYA1 NM_000503.5(EYA1): c.*1275G> A single nucleotide variant Likely benign rs192113669 GRCh37 Chromosome 8, 72110300: 72110300
46 EYA1 NM_000503.5(EYA1): c.*1275G> A single nucleotide variant Likely benign rs192113669 GRCh38 Chromosome 8, 71198065: 71198065
47 EYA1 NM_000503.5(EYA1): c.*1263C> T single nucleotide variant Likely benign rs140308724 GRCh37 Chromosome 8, 72110312: 72110312
48 EYA1 NM_000503.5(EYA1): c.*1263C> T single nucleotide variant Likely benign rs140308724 GRCh38 Chromosome 8, 71198077: 71198077
49 EYA1 NM_000503.5(EYA1): c.*1222A> C single nucleotide variant Likely benign rs117394899 GRCh38 Chromosome 8, 71198118: 71198118
50 EYA1 NM_000503.5(EYA1): c.*1222A> C single nucleotide variant Likely benign rs117394899 GRCh37 Chromosome 8, 72110353: 72110353

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
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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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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