DFNX7
MCID: DFN370
MIFTS: 20

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 29 6
Dfnx7 57 74
X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome 59
Deafness, X-Linked, 7 74

Characteristics:

OMIM:

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

Inheritance:
x-linked recessive


HPO:

32
deafness, x-linked 7:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

MeSH 44 D006319
Orphanet 59 ORPHA500188

Summaries for Deafness, X-Linked 7

UniProtKB/Swiss-Prot : 74 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.

MalaCards based summary : Deafness, X-Linked 7, is also known as dfnx7. 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)

Related Diseases for Deafness, X-Linked 7

Symptoms & Phenotypes for Deafness, X-Linked 7

Human phenotypes related to Deafness, X-Linked 7:

32 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 hearing impairment 32 HP:0000365
3 wide nasal bridge 32 HP:0000431
4 thick eyebrow 32 HP:0000574
5 telecanthus 32 HP:0000506

Symptoms via clinical synopsis from OMIM:

57
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

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 Deafness, X-Linked 7 29 GPRASP2

Anatomical Context for Deafness, X-Linked 7

Publications for Deafness, X-Linked 7

Articles related to Deafness, X-Linked 7:

(showing 2, show less)
# Title Authors PMID Year
1
GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. 8 71
28096187 2017
2
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014

Variations for Deafness, X-Linked 7

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

6 (showing 1, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GPRASP2 NM_138437.6(GPRASP2): c.1717_1718delinsAA (p.Ala573Asn) indel Pathogenic X:101971514-101971515 X:102716586-102716587

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

74 (showing 1, show less)
# 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

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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