ABERS
MCID: ABR009
MIFTS: 33

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 58 77 54 60 76 13
Abruzzo Erickson Syndrome 30 6 41 74
Abers 58 76
Cleft Palate-Coloboma-Deafness Syndrome 60
Charge-Like Syndrome, X-Linked 58
Charge Like Syndrome X-Linked 54
X-Linked Charge-Like Syndrome 76
Limb Deformities, Congenital 45
Maxillofacial Abnormalities 45
Hearing Loss, Conductive 45
Charge-Like Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
abruzzo-erickson syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked


HPO:

33
abruzzo-erickson syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Abruzzo-Erickson Syndrome

NIH Rare Diseases : 54 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 ankyloglossia. An important gene associated with Abruzzo-Erickson Syndrome is TBX22 (T-Box 22). Affiliated tissues include kidney, and related phenotypes are malar flattening and macrotia

UniProtKB/Swiss-Prot : 76 Abruzzo-Erickson syndrome: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.

Wikipedia : 77 Abruzzo–Erickson syndrome is a condition that may present with deafness, protruding ears, coloboma, a... more...

Description from OMIM: 302905

Related Diseases for Abruzzo-Erickson Syndrome

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:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
3 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
4 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
5 coronal hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0008743
6 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
7 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
8 chorioretinal coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000567
9 radioulnar synostosis 60 33 frequent (33%) Frequent (79-30%) HP:0002974
10 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
11 ulnar deviation of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009465
12 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
13 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
14 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
15 short toe 60 33 occasional (7.5%) Occasional (29-5%) HP:0001831
16 conductive hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000405
17 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
18 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
19 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
20 abnormal localization of kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0100542
21 dimple chin 33 occasional (7.5%) HP:0010751
22 hypospadias 60 33 Very frequent (99-80%) HP:0000047
23 coloboma 60 33 Frequent (79-30%) HP:0000589
24 hearing impairment 33 HP:0000365
25 protruding ear 33 HP:0000411
26 abnormal palate morphology 60 Frequent (79-30%)
27 chin dimple 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Abruzzo-Erickson Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 NOG TBX22 TCOF1
2 digestive/alimentary MP:0005381 9.33 NOG TBX22 TCOF1
3 respiratory system MP:0005388 9.13 NOG TBX22 TCOF1
4 skeleton MP:0005390 8.8 NOG TBX22 TCOF1

Drugs & Therapeutics for Abruzzo-Erickson Syndrome

Search Clinical Trials , 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 30 TBX22

Anatomical Context for Abruzzo-Erickson Syndrome

MalaCards organs/tissues related to Abruzzo-Erickson Syndrome:

42
Kidney

Publications for Abruzzo-Erickson Syndrome

Articles related to Abruzzo-Erickson Syndrome:

# Title Authors Year
1
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. ( 22784330 )
2013
2
A suspected case of Abruzzo-Erickson syndrome. ( 15352866 )
2004
3
A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. ( 839509 )
1977

Variations for Abruzzo-Erickson Syndrome

ClinVar genetic disease variations for Abruzzo-Erickson Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX22 NM_001109878.1(TBX22): c.459-5T> A single nucleotide variant Likely pathogenic rs200060292 GRCh37 Chromosome X, 79281097: 79281097
2 TBX22 NM_001109878.1(TBX22): c.459-5T> A single nucleotide variant Likely pathogenic rs200060292 GRCh38 Chromosome X, 80025598: 80025598

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 skeletal system development GO:0001501 8.62 NOG TCOF1

Sources for Abruzzo-Erickson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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