MCID: ABR009
MIFTS: 33

Abruzzo-Erickson Syndrome

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

Aliases & Classifications for Abruzzo-Erickson Syndrome

MalaCards integrated aliases for Abruzzo-Erickson Syndrome:

Name: Abruzzo-Erickson Syndrome 57 53 59 75 13
Abruzzo Erickson Syndrome 29 6 40 73
Abers 57 75
Cleft Palate-Coloboma-Deafness Syndrome 59
Charge-Like Syndrome, X-Linked 57
Charge Like Syndrome X-Linked 53
X-Linked Charge-Like Syndrome 75
Limb Deformities, Congenital 44
Maxillofacial Abnormalities 44
Hearing Loss, Conductive 44
Charge-Like Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
abruzzo-erickson syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked


HPO:

32
abruzzo-erickson syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Abruzzo-Erickson Syndrome

NIH Rare Diseases : 53 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 : 75 Abruzzo-Erickson syndrome: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.

Wikipedia : 76 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

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

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 28.6 TBX22 TCOF1
2 ankyloglossia 10.2
3 cleft palate with or without ankyloglossia, x-linked 10.2
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
5 earlobes, thickened, with conductive deafness from incudostapedial abnormalities 10.1
6 lymphoma, mucosa-associated lymphoid type 9.9
7 lymphoma 9.9
8 aging 9.7

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



Diseases related to Abruzzo-Erickson Syndrome

Symptoms & Phenotypes for Abruzzo-Erickson Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth:
short stature

GU:
hypospadias

HEENT:
cleft palate
coloboma
deafness
large ears
protruding ears
more
Limbs:
radioulnar synostosis
wide-spaced second and third fingers


Clinical features from OMIM:

302905

Human phenotypes related to Abruzzo-Erickson Syndrome:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
3 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
6 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
7 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
8 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
9 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
10 short toe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001831
11 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
12 hypospadias 59 32 Very frequent (99-80%) HP:0000047
13 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
14 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
15 radioulnar synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0002974
16 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
17 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
18 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
19 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
20 abnormal localization of kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0100542
21 coloboma 59 32 Frequent (79-30%) HP:0000589
22 coronal hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0008743
23 hearing impairment 32 HP:0000365
24 protruding ear 32 HP:0000411
25 abnormality of the palate 59 Frequent (79-30%)
26 chin dimple 59 Occasional (29-5%)
27 dimple chin 32 occasional (7.5%) HP:0010751

MGI Mouse Phenotypes related to Abruzzo-Erickson Syndrome:

46
# 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 TBX22 TCOF1 NOG

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 29 TBX22

Anatomical Context for Abruzzo-Erickson Syndrome

MalaCards organs/tissues related to Abruzzo-Erickson Syndrome:

41
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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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