Požymis

Hoarse voice

Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.

HPO HP:0001609

Taip pat vadinama: Hoarseness, Husky voice
Kūno sistema: Abnormality of the voice

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104 genų susiję su Hoarse voice

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Hoarse voice. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

Genas	Kaip dažnai pasireiškia	Ligos
APOA1apolipoprotein A1	Visada	1 ligoje
ASAH1N-acylsphingosine amidohydrolase 1	Visada	3 ligose
CD40LGCD40 ligand	Visada	1 ligoje
ECM1extracellular matrix protein 1	Visada	2 ligose
KRT14keratin 14	Visada	2 ligose
KRT5keratin 5	Visada	2 ligose
LTBP3latent transforming growth factor beta binding protein 3	Visada	2 ligose
NLRP1NLR family pyrin domain containing 1	Visada	1 ligoje
POU1F1POU class 1 homeobox 1	Visada	1 ligoje
SMSspermine synthase	Visada	1 ligoje
BAZ1Bbromodomain adjacent to zinc finger domain 1B	Labai dažnai (80–99%)	1 ligoje
BUD23BUD23 rRNA methyltransferase and ribosome maturation factor	Labai dažnai (80–99%)	1 ligoje
CLIP2CAP-Gly domain containing linker protein 2	Labai dažnai (80–99%)	1 ligoje
DNAJC30DnaJ heat shock protein family (Hsp40) member C30	Labai dažnai (80–99%)	1 ligoje
EIF4Heukaryotic translation initiation factor 4H	Labai dažnai (80–99%)	1 ligoje
ELNelastin	Labai dažnai (80–99%)	2 ligose
EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit	Labai dažnai (80–99%)	1 ligoje
FKBP6FKBP prolyl isomerase family member 6 (inactive)	Labai dažnai (80–99%)	1 ligoje
GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Labai dažnai (80–99%)	1 ligoje
GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Labai dažnai (80–99%)	3 ligose
GTF2Igeneral transcription factor IIi	Labai dažnai (80–99%)	1 ligoje
GTF2IRD1GTF2I repeat domain containing 1	Labai dažnai (80–99%)	1 ligoje
GTF2IRD2GTF2I repeat domain containing 2	Labai dažnai (80–99%)	1 ligoje
LIMK1LIM domain kinase 1	Labai dažnai (80–99%)	1 ligoje
METTL27methyltransferase like 27	Labai dažnai (80–99%)	1 ligoje
NCF1neutrophil cytosolic factor 1	Labai dažnai (80–99%)	1 ligoje
NSD1nuclear receptor binding SET domain protein 1	Labai dažnai (80–99%)	1 ligoje
RAI1retinoic acid induced 1	Labai dažnai (80–99%)	2 ligose
RFC2replication factor C subunit 2	Labai dažnai (80–99%)	1 ligoje
STX1Asyntaxin 1A	Labai dažnai (80–99%)	1 ligoje
SUZ12SUZ12 polycomb repressive complex 2 subunit	Labai dažnai (80–99%)	1 ligoje
TBL2transducin beta like 2	Labai dažnai (80–99%)	1 ligoje
TMEM270transmembrane protein 270	Labai dažnai (80–99%)	1 ligoje
VPS37DVPS37D subunit of ESCRT-I	Labai dažnai (80–99%)	1 ligoje
ACANaggrecan	Dažnai (30–79%)	2 ligose
AFF2ALF transcription elongation factor 2	Dažnai (30–79%)	2 ligose
AIPAHR interacting HSP90 co-chaperone	Dažnai (30–79%)	1 ligoje
C1Rcomplement C1r	Dažnai (30–79%)	2 ligose
C1Scomplement C1s	Dažnai (30–79%)	1 ligoje
CDC73cell division cycle 73	Dažnai (30–79%)	1 ligoje

Rodyti dar 64 genų

Genas	Kaip dažnai pasireiškia	Ligos
EIF4A3eukaryotic translation initiation factor 4A3	Dažnai (30–79%)	1 ligoje
GDAP1ganglioside induced differentiation associated protein 1	Dažnai (30–79%)	3 ligose
GPC4glypican 4	Dažnai (30–79%)	2 ligose
GPR101G protein-coupled receptor 101	Dažnai (30–79%)	1 ligoje
IQSEC2IQ motif and Sec7 domain ArfGEF 2	Dažnai (30–79%)	1 ligoje
LAMA3laminin subunit alpha 3	Dažnai (30–79%)	2 ligose
LAMB3laminin subunit beta 3	Dažnai (30–79%)	1 ligoje
LAMC2laminin subunit gamma 2	Dažnai (30–79%)	1 ligoje
MATR3matrin 3	Dažnai (30–79%)	2 ligose
MLXIPLMLX interacting protein like	Dažnai (30–79%)	1 ligoje
MYH14myosin heavy chain 14	Dažnai (30–79%)	2 ligose
NKX2-5NK2 homeobox 5	Dažnai (30–79%)	1 ligoje
PAX8paired box 8	Dažnai (30–79%)	1 ligoje
TLK2tousled like kinase 2	Dažnai (30–79%)	1 ligoje
TRHRthyrotropin releasing hormone receptor	Dažnai (30–79%)	1 ligoje
TSHBthyroid stimulating hormone subunit beta	Dažnai (30–79%)	1 ligoje
ACTA1actin alpha 1, skeletal muscle	Kartais (5–29%)	1 ligoje
ADARadenosine deaminase RNA specific	Kartais (5–29%)	1 ligoje
DDRGK1DDRGK domain containing 1	Kartais (5–29%)	2 ligose
FBN1fibrillin 1	Kartais (5–29%)	2 ligose
GPC3glypican 3	Kartais (5–29%)	1 ligoje
HACD13-hydroxyacyl-CoA dehydratase 1	Kartais (5–29%)	1 ligoje
IFIH1interferon induced with helicase C domain 1	Kartais (5–29%)	1 ligoje
ITGA7integrin subunit alpha 7	Kartais (5–29%)	1 ligoje
LSM11LSM11, U7 small nuclear RNA associated	Kartais (5–29%)	1 ligoje
MAP3K20mitogen-activated protein kinase kinase kinase 20	Kartais (5–29%)	1 ligoje
MAPK1mitogen-activated protein kinase 1	Kartais (5–29%)	1 ligoje
MFN2mitofusin 2	Kartais (5–29%)	1 ligoje
MID1midline 1	Kartais (5–29%)	1 ligoje
MYL2myosin light chain 2	Kartais (5–29%)	1 ligoje
NFE2L2NFE2 like bZIP transcription factor 2	Kartais (5–29%)	1 ligoje
PPP3CAprotein phosphatase 3 catalytic subunit alpha	Kartais (5–29%)	1 ligoje
RNASEH2Aribonuclease H2 subunit A	Kartais (5–29%)	1 ligoje
RNASEH2Bribonuclease H2 subunit B	Kartais (5–29%)	1 ligoje
RNASEH2Cribonuclease H2 subunit C	Kartais (5–29%)	1 ligoje
RNU7-1RNA, U7 small nuclear 1	Kartais (5–29%)	1 ligoje
SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	Kartais (5–29%)	1 ligoje
SELENONselenoprotein N	Kartais (5–29%)	1 ligoje
SERPING1serpin family G member 1	Kartais (5–29%)	1 ligoje
SHOC2SHOC2 leucine rich repeat scaffold protein	Kartais (5–29%)	1 ligoje
SPARTspartin	Kartais (5–29%)	1 ligoje
TPM2tropomyosin 2	Kartais (5–29%)	1 ligoje
TPM3tropomyosin 3	Kartais (5–29%)	1 ligoje
TREX1three prime repair exonuclease 1	Kartais (5–29%)	1 ligoje
KRT16keratin 16	Retai (1–4 %)	1 ligoje
KRT17keratin 17	Retai (1–4 %)	2 ligose
KRT6Akeratin 6A	Retai (1–4 %)	1 ligoje
KRT6Bkeratin 6B	Retai (1–4 %)	2 ligose
SPTBN1spectrin beta, non-erythrocytic 1	Retai (1–4 %)	1 ligoje
AGAaspartylglucosaminidase	Neužfiksuota	1 ligoje
ARID1BAT-rich interaction domain 1B	Neužfiksuota	1 ligoje
EDAectodysplasin A	Neužfiksuota	1 ligoje
FLNAfilamin A	Neužfiksuota	1 ligoje
HRASHRas proto-oncogene, GTPase	Neužfiksuota	1 ligoje
IDSiduronate 2-sulfatase	Neužfiksuota	1 ligoje
LEMD3LEM domain containing 3	Neužfiksuota	1 ligoje
LIFRLIF receptor subunit alpha	Neužfiksuota	1 ligoje
SDHAF2succinate dehydrogenase complex assembly factor 2	Neužfiksuota	1 ligoje
SDHCsuccinate dehydrogenase complex subunit C	Neužfiksuota	1 ligoje
SDHDsuccinate dehydrogenase complex subunit D	Neužfiksuota	1 ligoje
SLC19A2solute carrier family 19 member 2	Neužfiksuota	1 ligoje
SLC26A2solute carrier family 26 member 2	Neužfiksuota	1 ligoje
THRAthyroid hormone receptor alpha	Neužfiksuota	1 ligoje
TRPV4transient receptor potential cation channel subfamily V member 4	Neužfiksuota	1 ligoje

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Siauresni požymiai

Hoarse cry21 genas

Platesni požymiai

Abnormality of the voice

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
Duomenų leidimas 2026.10.16-c6eea6bf.

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