Synonyms: |
Non-syndromic genetic deafness; Nonsyndromic genetic deafness; Nonsyndromic hearing loss and deafness |
SNOMED CT: |
Non-syndromic genetic deafness (1260199008); Non-syndromic genetic hearing loss (1260199008); Isolated genetic hearing loss (1260199008); Isolated genetic deafness (1260199008) |
Modes of inheritance: |
Autosomal recessive inheritance- MedGen UID:
- 141025
- •Concept ID:
- C0441748
- •
- Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance- MedGen UID:
- 141047
- •Concept ID:
- C0443147
- •
- Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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.
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Related genes:
Gene(s) associated with related conditions. For conditions
in a hierarchy, the parent condition will list the genes
associated with the children conditions. |
PJVK, CISD2, MIR96, GRXCR1, SLC26A5, PTPRQ, ILDR1, TPRN, TMIE, MSRB3, SLC17A8, LHFPL5, LRTOMT, STRC, MARVELD2, CCDC50, OTOA, GIPC3, LOXHD1, TMC1, ESPN, GRHL2, MYH14, PCDH15, TMPRSS3, CDH23, DIABLO, MYO3A, DCDC2, MYO15A, GPSM2, WHRN, CLDN14, P2RX2, TRIOBP, GJB6, CIB2, USH1C, RIPOR2, OTOF, S1PR2, KCNQ4, CDC14A, CLPP, WFS1, TECTA, SIX1, REST, RDX, POU4F3, POU3F4, SERPINB6, SLC26A4, MYO7A, MYO6, MYH9, TRNS1, RNR1, COX1, LMX1A, KCNJ10, KARS1, HGF, GJB3, GJB2, GAB1, FOXI1, ESRRB, EYA4, DIAPH1, COCH, GSDME, COL11A2, ATP2B2, ADCY1, ACTG1 |
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Monarch Initiative: |
MONDO:0019497 |
Orphanet: |
ORPHA87884 |