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Items: 1 to 20 of 61

1.

Wolfram syndrome

MedGen UID:
776675
Concept ID:
CN184630
Disease or Syndrome
2.

DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss

MedGen UID:
776674
Concept ID:
CN184629
Disease or Syndrome
3.

Deafness, nonsyndromic sensorineural, mitochondrial

Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by Tang et al., 2007). [from OMIM]

MedGen UID:
463247
Concept ID:
C3151897
Disease or Syndrome
4.

DFNA 2 Nonsyndromic Hearing Loss

DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. At younger ages, hearing loss tends to be mild in the low frequencies and moderate in the high frequencies; in older persons, the hearing loss is moderate in the low frequencies and severe to profound in the high frequencies. Although the hearing impairment is often detected during routine hearing assessment of a school-age child, it is likely that hearing is impaired from birth, especially at high frequencies. Most affected persons initially require hearing aids to assist with sound amplification between ages ten and 40 years. By age 70 years, all persons with DFNA2 nonsyndromic hearing loss have severe-to-profound hearing impairment. [from GeneReviews]

MedGen UID:
436997
Concept ID:
C2677637
Disease or Syndrome
5.

Deafness, autosomal dominant 3a

Nonsyndromic hearing loss and deafness, DFNA3, is characterized by pre- or postlingual, mild to profound, progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings. Most individuals diagnosed as having DFNA3 have a deaf parent; the family history is rarely negative. [from GeneReviews]

MedGen UID:
436512
Concept ID:
C2675750
Disease or Syndrome
6.

Deafness, autosomal dominant 3b

Nonsyndromic hearing loss and deafness, DFNA3, is characterized by pre- or postlingual, mild to profound, progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings. Most individuals diagnosed as having DFNA3 have a deaf parent; the family history is rarely negative. [from GeneReviews]

MedGen UID:
436382
Concept ID:
C2675237
Disease or Syndrome
7.

Deafness, autosomal dominant 50

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
430311
Concept ID:
CN035509
Disease or Syndrome
8.

Deafness, autosomal recessive 77

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
412541
Concept ID:
C2746083
Disease or Syndrome
9.

Deafness, autosomal recessive 63

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
409872
Concept ID:
C1969621
Disease or Syndrome
10.

Deafness, autosomal dominant 13

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
400917
Concept ID:
C1866095
Disease or Syndrome
11.

Deafness, autosomal dominant 2b

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
390742
Concept ID:
C2675236
Disease or Syndrome
12.

Deafness, autosomal recessive 1A

Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital, non-progressive, mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. [from GeneReviews]

MedGen UID:
388720
Concept ID:
C2673759
Disease or Syndrome
13.

Deafness, autosomal recessive 59

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
387899
Concept ID:
C1857744
Disease or Syndrome
14.

Deafness, X-linked 4

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
376307
Concept ID:
C1848204
Disease or Syndrome
15.

Deafness, autosomal dominant 36

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
376173
Concept ID:
C1847626
Disease or Syndrome
16.

Deafness, autosomal recessive 37

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
375076
Concept ID:
C1843028
Disease or Syndrome
17.

Deafness, autosomal dominant 48

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
375052
Concept ID:
C1842939
Disease or Syndrome
18.

Deafness, autosomal recessive 39

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
374909
Concept ID:
C1842342
Disease or Syndrome
19.

Aminoglycoside-induced deafness

Nonsyndromic mitochondrial hearing loss and deafness is characterized by moderate-to-profound hearing loss and a pathogenic variant in either MT-RNR1 or MT-TS1. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset sensorineural hearing loss. Pathogenic variants in MT-TS1 are usually associated with childhood onset of sensorineural hearing loss. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Although hearing loss associated with pathogenic variants in MT-TS1 is considered nonsyndromic, the m.7445A>G substitution is also associated with palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels) in some families. [from GeneReviews]

MedGen UID:
374074
Concept ID:
C1838854
Disease or Syndrome
20.

Deafness, autosomal dominant 9

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
371327
Concept ID:
C1832425
Disease or Syndrome
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