ABERS
MCID: ABR009
MIFTS: 45

Abruzzo-Erickson Syndrome (ABERS)

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

Aliases & Classifications for Abruzzo-Erickson Syndrome

MalaCards integrated aliases for Abruzzo-Erickson Syndrome:

Name: Abruzzo-Erickson Syndrome 57 12 73 20 58 72 29 13 6 15
Abruzzo Erickson Syndrome 44 39 70
Cleft Palate-Coloboma-Deafness Syndrome 12 58
Charge-Like Syndrome, X-Linked 57 12
Abers 57 72
Cleft Palate-Coloboma-Hearing Loss Syndrome 58
Charge Like Syndrome X-Linked 20
X-Linked Charge-Like Syndrome 72
Limb Deformities, Congenital 44
Maxillofacial Abnormalities 44
Hearing Loss, Conductive 44
Charge-Like Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
abruzzo-erickson syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked


HPO:

31
abruzzo-erickson syndrome:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111826
OMIM® 57 302905
SNOMED-CT 67 718574003
MESH via Orphanet 45 C535559
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1844862
Orphanet 58 ORPHA921
MedGen 41 C1844862
UMLS 70 C1844862

Summaries for Abruzzo-Erickson Syndrome

GARD : 20 Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis. Although the underlying cause of the condition is still being studied, it appears to result, at least in part, from mutations in the TBX22 gene. The condition is inherited in an X-linked recessive manner. Treatment is generally aimed at addressing the symptoms present in each individual.

MalaCards based summary : Abruzzo-Erickson Syndrome, also known as abruzzo erickson syndrome, is related to cleft palate, isolated and coloboma of macula. An important gene associated with Abruzzo-Erickson Syndrome is TBX22 (T-Box Transcription Factor 22). The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and eye, and related phenotypes are macrotia and cleft palate

Disease Ontology : 12 A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has material basis in hemizygous mutation in TBX22 on chromosome Xq21.1.

UniProtKB/Swiss-Prot : 72 Abruzzo-Erickson syndrome: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.

Wikipedia : 73 Abruzzo-Erickson syndrome is a condition that may present with deafness, protruding ears, coloboma, a... more...

More information from OMIM: 302905

Related Diseases for Abruzzo-Erickson Syndrome

Diseases related to Abruzzo-Erickson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 30.1 TCOF1 TBX22 NOG FLNA
2 coloboma of macula 30.1 TCOF1 CRYBA4 CRYAA
3 farsightedness 10.2 NOG ANKRD11
4 ayme-gripp syndrome 10.2 CRYGA CRYAA
5 ankyloglossia with or without tooth anomalies 10.2
6 cleft palate with or without ankyloglossia, x-linked 10.2
7 branchiootic syndrome 1 10.2
8 choanal atresia, posterior 10.1 TCOF1 TBX22
9 congenital aphakia 10.1 CRYGB CRYAA
10 cataract 48 10.1 CRYGB CRYAA
11 axenfeld-rieger syndrome, type 1 10.1 LINC00976 CRYAA
12 physical disorder 10.1 TBX22 FLNA CRYAA
13 cataract 6, multiple types 10.1 CRYBB3 CRYAA
14 presbyopia 10.1 CRYGB CRYAA
15 eye accommodation disease 10.1 CRYGB CRYAA
16 stickler syndrome 10.1 TCOF1 TBX22 CRYAA
17 cataract 1, multiple types 10.1 GJA3 CRYAA
18 night blindness, congenital stationary, type 2a 10.1 CRYGB CRYAA
19 scleral staphyloma 10.0 CRYGA CRYBB3 CRYAA
20 esotropia 10.0 CRYAA ANKRD11
21 morgagni cataract 10.0 CRYGB CRYGA CRYAA
22 corneal staphyloma 10.0 CRYBB3 CRYBB1
23 mature cataract 10.0 CRYBB2 CRYAA
24 microphthalmia, syndromic 2 10.0 CRYBA4 CRYAA
25 cataract 24 10.0 CRYGB CRYBB3 CRYAA
26 lens subluxation 10.0 CRYBA4 CRYAA
27 posterior polar cataract 9.9 GJA3 CRYGA CRYAA
28 orofacial cleft 9.9 TCOF1 TBX22 NOG CRYAA
29 cataract 17, multiple types 9.9 CRYBB1 CRYBA4
30 microphthalmia, isolated 1 9.9 CRYBB1 CRYBA4
31 syndromic microphthalmia 9.9 CRYBA4 CRYAA
32 treacher collins syndrome 1 9.9
33 rhabdomyosarcoma 9.9
34 immature cataract 9.9 GJA3 CRYGB CRYAA
35 early-onset lamellar cataract 9.9 CRYGB CRYBA4 CRYAA
36 triosephosphate isomerase deficiency 9.9 CRYBB3 CRYBB1 CRYAA
37 esophageal atresia 9.9 TCOF1 NOG
38 charge syndrome 9.9
39 chd7 disorder 9.9
40 amblyopia 9.8 GJA3 CRYBB1 CRYAA
41 hemifacial microsomia 9.8
42 retinoblastoma 9.8
43 osteogenic sarcoma 9.8
44 bone disease 9.8
45 amelogenesis imperfecta 9.8
46 ankylosis 9.8
47 neuroblastoma 9.8
48 temporomandibular ankylosis 9.8
49 thalassemia 9.8
50 anterior segment dysgenesis 9.7 CRYBB1 CRYBA4 CRYAA

Graphical network of the top 20 diseases related to Abruzzo-Erickson Syndrome:



Diseases related to Abruzzo-Erickson Syndrome

Symptoms & Phenotypes for Abruzzo-Erickson Syndrome

Human phenotypes related to Abruzzo-Erickson Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
2 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
3 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
4 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
5 coronal hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0008743
6 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
9 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
10 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
11 ulnar deviation of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009465
12 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
13 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
14 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
15 short toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001831
16 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
17 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
18 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
19 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
20 abnormal localization of kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0100542
21 dimple chin 31 occasional (7.5%) HP:0010751
22 hypospadias 58 31 Very frequent (99-80%) HP:0000047
23 coloboma 58 31 Frequent (79-30%) HP:0000589
24 hearing impairment 31 HP:0000365
25 chin dimple 58 Occasional (29-5%)
26 protruding ear 31 HP:0000411
27 abnormal palate morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth:
short stature

G U:
hypospadias

H E E N T:
cleft palate
coloboma
deafness
large ears
protruding ears
more
Limbs:
radioulnar synostosis
wide-spaced second and third fingers

Clinical features from OMIM®:

302905 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Abruzzo-Erickson Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 CRYBB2 CRYGA CRYGB FLNA GJA3 NOG

Drugs & Therapeutics for Abruzzo-Erickson Syndrome

Drugs for Abruzzo-Erickson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2
2 Hormone Antagonists Phase 2
3
Montelukast Approved 158966-92-8 5281040
4
Remifentanil Approved 132875-61-7 60815
5
Silver sulfadiazine Approved, Vet_approved 22199-08-2 441244
6
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
7
Povidone Approved 9003-39-8 131751496
8
Povidone-iodine Approved 25655-41-8
9
Iodine Approved, Investigational 7553-56-2 807
10
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
11
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
12
Cadexomer iodine Experimental 94820-09-4
13 Respiratory System Agents
14 Anti-Asthmatic Agents
15 Leukotriene Antagonists
16 Pharmaceutical Solutions
17 Anesthetics
18 Micronutrients
19 Trace Elements
20 Nutrients
21 Antioxidants
22 Protective Agents
23 Vitamins

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 The Evaluation of the Effectiveness of Bone-anchored Hearing Aids (Baha) in Patients With Conductive or Mixed Hearing Loss, or Unilateral Deafness Unknown status NCT01264510 Phase 4
2 The Influence of The Ear Popper on Serous Otitis Media and on the Accompanying Conductive Hearing Loss in Children Unknown status NCT00393159 Phase 4
3 Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated Over a Period of 3 Years or 5 Years if Applicable, in Comparison With a Historic Cohort of Non-treated Children With Hypochondroplasia Completed NCT01111019 Phase 2 Recombinant human growth hormone (r-hGH)
4 SoundBite Hearing System Long Term Multi Site Patient Use Study Unknown status NCT01445977
5 Evaluation of the Ponto Bone Anchored Hearing System in a Pediatric Atresia Population Unknown status NCT03723161
6 Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease Unknown status NCT00222417
7 Subjective Satisfaction and Audiological Benefit With ADHEAR Audio Processor and ADHEAR Adhesive Adapter in Children Unknown status NCT03327194
8 Montelukast for Children With Chronic Otitis Media With Effusion (COME): A Double-blind, Placebo-controlled Study Unknown status NCT01967498 Montelukast
9 SoundBite Hearing System 24 Month Multi Site Patient Use Study Unknown status NCT01807559
10 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
11 An Analysis of the Clinical Applicability of a Three-Dimensional Imaging Platform Used to Register the Influence of Orthognathic Surgery on Facial Hard and Soft Tissue in Patients With Congenital Maxillofacial Deformities. Unknown status NCT00285714
12 Evaluation of Soft Tissue Healing and Implant Stability of Cochlear Baha BI300 Implants Loaded From 2 Weeks Post-surgery: a Comparison Between Two Surgical Techniques. Completed NCT01699620
13 Comparison of Half-thickness Tragal Cartilage Graft to Temporalis Fascia Graft Completed NCT03817242
14 Evaluation of Soft Tissue Healing and Implant Stability of Cochlear Baha BI300/BA400 Implant System Loaded From 1 Week Post-surgery After Linear Incision Without Soft Tissue Reduction. Completed NCT02096809
15 Investigating Hearing With the Ponto 4, a Bone Anchored Hearing Aid Completed NCT04761926
16 A Randomised Controlled Trial Comparing Bone Anchored Hearing Aid With Bonebridge Completed NCT01858246
17 Evaluation of the Baha SoundArc in Pediatric Patients Completed NCT03333577
18 Audiological Benefit With Non-implantable Bone Conduction Hearing Systems Completed NCT03129191
19 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
20 Audiological Benefit and Quality of Life With Two Bone Conduction Systems: ADHEAR vs. Contact Mini Completed NCT03746548
21 Minimally Invasive Surgery for Ponto Bone Anchored Hearing Implants Completed NCT02438618
22 Single Center Evaluation of a Sound Processor for a Transcutaneous System Completed NCT03374787
23 Long-term Stability and Survival Rates of a Novel Oticon Medical Bone Conduction Device Implant Completed NCT01738490
24 A Clinical Study of the Oticon Medical Ponto 4.5mm Wide Implant Completed NCT01671176
25 Audiological Benefit and Improved Quality of Life With Two Bone Conduction Systems: ADHEAR vs. Bonebridge in Experienced Users Completed NCT03766152
26 C49:Clinical Survey of Different Abutment Topologies Installed With a Minimally Invasive Surgery for Bone Anchored Hearing Systems Completed NCT02304692
27 Subject´s Preference Regarding Hearing Performance and Functionality Using a New Sound Processor Completed NCT03848910
28 C51 - Clinical Survey of Oticon Medical Healing Cap Completed NCT02274129
29 Long Term Stability, Survival and Tolerability of a (Novel) Baha® Implant System Completed NCT02092610
30 Clinical Survey of Oticon Medical Ponto Implants and a Surgical Technique With Tissue Preservation Completed NCT02064478
31 Clinical Survey of Oticon Medical Ponto BHX Implant Completed NCT03289845
32 Clinical Performance of a Transcutaneous Bone Conduction Hearing Solution (Baha® Attract System). A Multicentre, Open, Prospective Clinical Investigation. 3 Months Investigation With a 6 Months Follow-up Completed NCT01822119
33 Post-market Clinical Follow-up of a Magnetic Bone Conduction Implant (Cochlear Baha Attract System) Completed NCT02022085
34 Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans Completed NCT02019888
35 Clinical and Health Economic Evaluation of a New Baha® Abutment, With a Minimally Invasive Surgical Technique. An International Multicentre, Open, Randomised, Comparative, Parallel Group, Investigation. 1y Investigation, 2y Follow-up Completed NCT01796236
36 Clinical Survey of Minimally Invasive Ponto Surgical Technique (MIPS) Completed NCT03281967
37 Ambispective Clinical Evaluation of Sophono™ Completed NCT03143257
38 Clinical Performance of a New Implant System for Bone Conduction Hearing Completed NCT03086135
39 A Retrospective Review of Anaesthetic Practice and Intraoperative Blood Loss in Orthognathic Surgery in a Tertiary Hospital Completed NCT04813289
40 Impact of Manual Lymphatic Drainage on Postoperative Edema of the Face and the Neck After Orthognathic Surgery.Open-label Multicenter Randomized Controlled Trial Completed NCT01983436
41 Evaluation of the Perioperative Mandibular Positional Stability in Subjects With Dentofacial Deformity Completed NCT01486069
42 Accuracy of Maxillary Repositioning During Orthognathic Surgery: a Prospective Observational Descriptive Study in Annecy Genevois Hospital Completed NCT03357211
43 Customized Self-Controlled Power-Driven or Mechanical Orthoses for the Upper Limb - A Pilot Study Recruiting NCT04199975
44 Evaluation of Implant Stability and Audiological Benefit of Oticon Medicals BHX Implant in Children Undergoing Surgery for a Percutaneous Bone Anchored Hearing System Recruiting NCT03742089
45 Comparative Study of Non-invasive Adhear Bone Conduction System to Traditional Bone Conduction Hearing Devices Recruiting NCT03533686
46 Investigating Hearing With Ponto 3 SuperPower, a Bone Anchored Hearing Aid - Investigating Hear Recruiting NCT04803279
47 Outcomes in Adults With Mixed or Conductive Hearing Loss Implanted With the BONEBRIDGE Recruiting NCT03859648
48 Remote Microphone (RM) Technology in Children Using Bone Conduction Devices: A Comparative Study Recruiting NCT04147611
49 Moisture Management Liner Effectiveness Study Recruiting NCT04427007
50 A Post-market Interventional Cohort Study Evaluating the Clinical Efficacy of the Osia 2 System in the US Market. Recruiting NCT04320407

Search NIH Clinical Center for Abruzzo-Erickson Syndrome

Cochrane evidence based reviews: limb deformities, congenital

Genetic Tests for Abruzzo-Erickson Syndrome

Genetic tests related to Abruzzo-Erickson Syndrome:

# Genetic test Affiliating Genes
1 Abruzzo-Erickson Syndrome 29 TBX22

Anatomical Context for Abruzzo-Erickson Syndrome

MalaCards organs/tissues related to Abruzzo-Erickson Syndrome:

40
Bone, Kidney, Eye

Publications for Abruzzo-Erickson Syndrome

Articles related to Abruzzo-Erickson Syndrome:

(show all 12)
# Title Authors PMID Year
1
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. 61 20 57 6
22784330 2013
2
A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. 6 57
839509 1977
3
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
4
Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association. 57
2596527 1989
5
Familial CHARGE syndrome: clinical report with autopsy findings. 57
3565473 1987
6
CHARGE syndrome. Part I. External ear anomalies. 57
3570680 1986
7
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. 54
18983945 2009
8
Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans. 54
18096605 2008
9
Teunissen-Cremers syndrome: a clinical, surgical, and genetic report. 54
15699718 2005
10
A suspected case of Abruzzo-Erickson syndrome. 61
15352866 2004
11
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. 54
8281138 1993
12
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. 54
8488840 1993

Variations for Abruzzo-Erickson Syndrome

ClinVar genetic disease variations for Abruzzo-Erickson Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX22 NM_001109878.2(TBX22):c.459-5T>A SNV Pathogenic 50315 rs200060292 GRCh37: X:79281097-79281097
GRCh38: X:80025598-80025598
2 ANKRD11 NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) Microsatellite Pathogenic 279678 rs886041125 GRCh37: 16:89351043-89351047
GRCh38: 16:89284635-89284639
3 FLNA NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) SNV Pathogenic 11755 rs28935469 GRCh37: X:153596212-153596212
GRCh38: X:154367844-154367844
4 ANKRD11 NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) Microsatellite Likely pathogenic 279678 rs886041125 GRCh37: 16:89351043-89351047
GRCh38: 16:89284635-89284639
5 COL11A2 NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His) SNV Uncertain significance 228536 rs772567850 GRCh37: 6:33133517-33133517
GRCh38: 6:33165740-33165740

Expression for Abruzzo-Erickson Syndrome

Search GEO for disease gene expression data for Abruzzo-Erickson Syndrome.

Pathways for Abruzzo-Erickson Syndrome

GO Terms for Abruzzo-Erickson Syndrome

Biological processes related to Abruzzo-Erickson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lens development in camera-type eye GO:0002088 9.43 CRYGB CRYGA CRYBB3 CRYBB2 CRYBB1 CRYBA4
2 eye development GO:0001654 9.32 CRYGB CRYGA
3 epithelial to mesenchymal transition GO:0001837 9.26 NOG FLNA
4 visual perception GO:0007601 9.23 GJA3 CRYGB CRYGA CRYBB3 CRYBB2 CRYBB1
5 face morphogenesis GO:0060325 9.16 NOG ANKRD11

Molecular functions related to Abruzzo-Erickson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.17 CRYGB CRYGA CRYBB3 CRYBB2 CRYBB1 CRYBA4

Sources for Abruzzo-Erickson Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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