DFNX7
MCID: DFN370
MIFTS: 23

Deafness, X-Linked 7 (DFNX7)

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

Aliases & Classifications for Deafness, X-Linked 7

MalaCards integrated aliases for Deafness, X-Linked 7:

Name: Deafness, X-Linked 7 57
X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome 12 58 29 6
Dfnx7 57 12 72
Deafness, X-Linked, 7 72
X-Linked Deafness 7 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
congenital onset
progressive in some patients
based on 1 chinese family (last curated november 15, 2018)

Inheritance:
x-linked recessive


HPO:

31
deafness, x-linked 7:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111738
OMIM® 57 301018
OMIM Phenotypic Series 57 PS304500
MeSH 44 D006319
Orphanet 58 ORPHA500188

Summaries for Deafness, X-Linked 7

Disease Ontology : 12 An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has material basis in homozygous or hemizygous mutation in GPRASP2 on chromosome Xq22.1.

MalaCards based summary : Deafness, X-Linked 7, also known as x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, is related to autism spectrum disorder. An important gene associated with Deafness, X-Linked 7 is GPRASP2 (G Protein-Coupled Receptor Associated Sorting Protein 2). Related phenotypes are ptosis and hearing impairment

OMIM® : 57 DFNX7 is a congenital form of bilateral mixed or conductive hearing loss, which may be progressive. It is not associated with vestibular symptoms (Xing et al., 2017). (301018) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Deafness, X-linked, 7: A congenital form of bilateral mixed or conductive hearing loss, which is progressive in some patients. Additional clinical features include ear anomalies and facial dysmorphism with bilateral ptosis.

Related Diseases for Deafness, X-Linked 7

Diseases in the Y-Linked Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 6 Deafness, X-Linked 7
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1 Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

Diseases related to Deafness, X-Linked 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 9.4 GSTP1 GPRASP2

Symptoms & Phenotypes for Deafness, X-Linked 7

Human phenotypes related to Deafness, X-Linked 7:

31
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 hearing impairment 31 HP:0000365
3 wide nasal bridge 31 HP:0000431
4 thick eyebrow 31 HP:0000574
5 telecanthus 31 HP:0000506

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
telecanthus
heavy eyebrows

Head And Neck Ears:
hearing loss, bilateral mixed or conductive
canal atresia/stenosis
abnormal auricular shape
antitragus formation
incomplete antihelix
more
Head And Neck Nose:
broad nasal root

Clinical features from OMIM®:

301018 (Updated 20-May-2021)

Drugs & Therapeutics for Deafness, X-Linked 7

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 7

Genetic Tests for Deafness, X-Linked 7

Genetic tests related to Deafness, X-Linked 7:

# Genetic test Affiliating Genes
1 X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome 29 GPRASP2

Anatomical Context for Deafness, X-Linked 7

Publications for Deafness, X-Linked 7

Articles related to Deafness, X-Linked 7:

# Title Authors PMID Year
1
GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. 57 6
28096187 2017

Variations for Deafness, X-Linked 7

ClinVar genetic disease variations for Deafness, X-Linked 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARMCX5-GPRASP2 , GPRASP2 NM_138437.6(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn) Indel Pathogenic 590781 rs1569491884 GRCh37: X:101971514-101971515
GRCh38: X:102716586-102716587
2 ARMCX5-GPRASP2 , GPRASP2 NM_138437.6(GPRASP2):c.1295G>A (p.Gly432Glu) SNV Uncertain significance 1030276 GRCh37: X:101971092-101971092
GRCh38: X:102716164-102716164

UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 7:

72
# Symbol AA change Variation ID SNP ID
1 GPRASP2 p.Ala573Asn VAR_081645

Expression for Deafness, X-Linked 7

Search GEO for disease gene expression data for Deafness, X-Linked 7.

Pathways for Deafness, X-Linked 7

GO Terms for Deafness, X-Linked 7

Biological processes related to Deafness, X-Linked 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hematopoietic stem cell homeostasis GO:0061484 8.62 GPRASP2 ARMCX5-GPRASP2

Molecular functions related to Deafness, X-Linked 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 8.96 GPRASP2 ARMCX5-GPRASP2
2 G protein-coupled receptor binding GO:0001664 8.62 GPRASP2 ARMCX5-GPRASP2

Sources for Deafness, X-Linked 7

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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