DFNX7
MCID: DFN370
MIFTS: 19

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 58 30 6
Dfnx7 58 76
X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome 60
Deafness, X-Linked, 7 76

Characteristics:

OMIM:

58
Miscellaneous:
congenital onset
progressive in some patients
based on 1 chinese family (last curated november 15, 2018)

Inheritance:
x-linked recessive


HPO:

33
deafness, x-linked 7:
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 58 301018
MeSH 45 D006319
Orphanet 60 ORPHA500188
MedGen 43 CN257788

Summaries for Deafness, X-Linked 7

UniProtKB/Swiss-Prot : 76 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 : 58 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:

33 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 hearing impairment 33 HP:0000365
3 thick eyebrow 33 HP:0000574
4 telecanthus 33 HP:0000506

Symptoms via clinical synopsis from OMIM:

58
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 30 GPRASP2

Anatomical Context for Deafness, X-Linked 7

Publications for Deafness, X-Linked 7

Articles related to Deafness, X-Linked 7:

(showing 1, show less)
# Title Authors Year
1
GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. ( 28096187 )
2017

Variations for Deafness, X-Linked 7

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

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 GPRASP2 p.Ala573Asn VAR_081645

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

6 (showing 2, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPRASP2 NM_138437.5(GPRASP2): c.1717_1718delGCinsAA (p.Ala573Asn) indel Pathogenic GRCh38 Chromosome X, 102716586: 102716587
2 GPRASP2 NM_138437.5(GPRASP2): c.1717_1718delGCinsAA (p.Ala573Asn) indel Pathogenic GRCh37 Chromosome X, 101971514: 101971515

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

Sources for Deafness, X-Linked 7

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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