Deafness, X-linked 5, with peripheral neuropathy

Preferred Label : Deafness, X-linked 5, with peripheral neuropathy;

Symbol : DFNX5;

CISMeF acronym : AUNX1; DFNX5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy; AUNX1;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (AIFM1, 300169.0003);

Prefixed ID : #300614;

Details

Origin ID

300614;

UMLS CUI

C1845095;

Currated CISMeF NLP mapping
- X-Linked Deafness-5, with Peripheral Neuropathy [NCIt concept]
- X-linked deafness 5 [DO Concept]
- deafness, X-Linked 5 [MeSH concept]
- deafness, X-Linked 5 [MeSH Supplementary Concept]
DO Cross reference
- X-linked deafness 5 [DO Concept]
Genes related to phenotype
- Apoptosis-inducing factor, mitochondria-associated, 1 [OMIM gene]
HPO term(s)
- Abnormal middle ear reflexes [HPO term]
- Abnormal speech discrimination [HPO term]
- Areflexia [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Chronic immune thrombocytopenia [HPO term]
- Distal sensory impairment [HPO term]
- Hearing impairment [HPO term]
- Sensory axonal neuropathy [HPO term]
- Slowly progressive [HPO term]
- Tinnitus [HPO term]
- Unsteady gait [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Auditory neuropathy, X-linked recessive 1 [ORDO Gene]
- X-linked hereditary sensory and autonomic neuropathy with deafness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-Linked Deafness-5, with Peripheral Neuropathy [NCIt concept]
- deafness, X-Linked 5 [MeSH Supplementary Concept]
- deafness, X-Linked 5 [MeSH concept]
Validated automatic mappings to NTBT
- X-linked nonsyndromic deafness [DO Concept]

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