X-linked hereditary sensory and autonomic neuropathy with hearing loss

MedGen UID:: 930069
•Concept ID:: C4304400
•: Disease or Syndrome

Synonym:	X-linked hereditary sensory and autonomic neuropathy with deafness
SNOMED CT:	X-linked hereditary sensory and autonomic neuropathy with deafness (719838008); X-linked auditory neuropathy with peripheral sensory neuropathy type 1 (719838008); X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness (719838008)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0010378
Orphanet:	ORPHA139583

Definition

This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVX-linked hereditary sensory and autonomic neuropathy with hearing loss

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Hereditary sensory and autonomic neuropathy
        X-linked hereditary sensory and autonomic neuropathy with hearing loss

Recent clinical studies

Etiology

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

Cowchock FS, Duckett SW, Streletz LJ, Graziani LJ, Jackson LG
Am J Med Genet 1985 Feb;20(2):307-15. doi: 10.1002/ajmg.1320200214. PMID: 3856385

See all (1)

Diagnosis

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I
Am J Med Genet A 2017 Apr;173(4):1102-1108. doi: 10.1002/ajmg.a.38116. PMID: 28328135

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

Cowchock FS, Duckett SW, Streletz LJ, Graziani LJ, Jackson LG
Am J Med Genet 1985 Feb;20(2):307-15. doi: 10.1002/ajmg.1320200214. PMID: 3856385

See all (2)