All individuals with variants in gene HK1

70 entries on 1 page. Showing entries 1 - 70.
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00219096 19536174-Fam PubMed: Hantke 2009 multi-generation family F;M yes Bulgaria gypsy (Kalderas) - - - - HMSNR;CMT4G see paper; ... 2 1 Johan den Dunnen
00219097 19536174-con PubMed: Hantke 2009 control individuals F;M - Bulgaria gypsy - - - - Healthy/Control - 1 5 Johan den Dunnen
00233167 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 5 Yoshito Koyanagi
00233168 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 589 Yoshito Koyanagi
00233169 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233170 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233171 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 270 Yoshito Koyanagi
00233172 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233173 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00233174 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00233175 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233176 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233177 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233768 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1198 Yoshito Koyanagi
00233769 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 266 Yoshito Koyanagi
00233770 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 27 Yoshito Koyanagi
00299647 FamUTAD003-Pat15 PubMed: Sullivan 2014 6-generation family, 21 affected (11F,10M) F - United States Louisiana - - - - retinal disease see paper; ..., count fingers OD, 20/30 OS 1 21 Johan den Dunnen
00299648 FamUTAD003-Pat13 PubMed: Sullivan 2014 - F - United States Louisiana - - - - retinal disease see paper; ..., 20/25 OD, 20/20 OS, pericentral pattern of atrophy, peripheral bone spicule deposition 1 1 Johan den Dunnen
00299649 FamUTAD003-Pat16 PubMed: Sullivan 2014 - M - United States Louisiana - - - - retinal disease see paper; ..., 33y-count fingers OD, 20/200 OS; 4y-profound nyctalopia (HP:0000662); 33y-classic features RP in each eye: severe retinal vascular attenuation (HP:?), diffuse optic disc pallor, extensive and broadly distributed pigment epithelial atrophy with bone spicule (HP:0007737) accumulation, macular atrophy each eye consistent, reduced acuity 1 1 Johan den Dunnen
00299650 FamUTAD003-Pat21 PubMed: Sullivan 2014 - F - United States Louisiana - - - - retinal disease see paper; ..., 20/20 OD, 20/20 OS 1 1 Johan den Dunnen
00299651 FamUTAD003-Pat20 PubMed: Sullivan 2014 - M - United States Louisiana - - - - retinal disease see paper; ..., 20/20 OD, 20/20 OS, mild retinal changes 1 1 Johan den Dunnen
00299652 FamUTAD936-Pat10050 PubMed: Sullivan 2014 4-generation family, 10 affected (7F, 3M) F - United States Louisiana - - - - retinal disease see paper; ..., 20/32 OD, 20/80 OS, heavy pigmentary deposits, focal areas of hypopigmentation located primarily in midperiphery, retinal vessels moderately attenuated, far periphery appears relatively intact, consistent with sizable full-field ERG and far peripheral sensitivity to the Goldmann V4e test target 1 10 Johan den Dunnen
00299653 FamUTAD952-Pat10109 PubMed: Sullivan 2014 5-generation family, 7 affected (3F, 4M) M - United States Louisiana - - - - retinal disease see paper; ..., 20/40 OD, 20/50 OS, dense midperipheral bone spicule pigmentation interspersed with focal areas of hypopigmentation, retinal vessels severely attenuated (no vessels visible nasal to disc, abnormalities extend into far periphery, consistent with severely attenuated ERG, visual field sensitivity limited to central retina 1 7 Johan den Dunnen
00299654 FamMOGL1-Pat5259 PubMed: Sullivan 2014 3-generation family, 6 affected (6M) M - Canada Quebec - - - - retinal disease see paper; ..., count fingers OD, 20/60 OS, widespread macular atrophy, narrow vessels, lack of pigmentation, relatively normal-appearing optic disc 1 6 Johan den Dunnen
00299655 FamMOGL1-Pat515 PubMed: Sullivan 2014 son M - Canada Quebec - - - - retinal disease see paper; ..., 20/20 OD, 20/20 OS, bull's-eye maculopathy, extensive RPE mottling, dense pigmentation around arcades 1 1 Johan den Dunnen
00299656 FamMOGL1-Pat5231 PubMed: Sullivan 2014 - M - Canada Quebec - - - - retinal disease see paper; ..., 20/20 OD, 20/20 OS, bull's-eye maculopathy with RPE mottling around arcades, no pigmentary changes 1 1 Johan den Dunnen
00299657 FamMOGL2-Pat1807 PubMed: Sullivan 2014 2-generation family, 1 affected, apparently unaffected parents and an unaffected sibling F - Italy Sicily - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00299658 Family PubMed: Wang 2014 4-generation family, 18 affected (8F,10M) F;M no United States European - - - - retinal disease disease severity ranged from mild pigmentary changes to severe retinal pigment epithelium and retinal degeneration, concomitant cone photoreceptor degeneration in older patients manifested by photophobia, color vision changes, decreased central vision; fundus images proband showed abrupt border of chorioretinal degeneration outside posterior pole, sclerosis of choroidal vessels, pigmentary changes macula; nyctalopia (HP:0000662) 1 18 Johan den Dunnen
00299659 FamPat2 PubMed: Wang 2014 - - - United States European - - - - retinal disease 11y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299660 FamPat3 PubMed: Wang 2014 - - - United States European - - - - retinal disease 19y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299661 FamPat7 PubMed: Wang 2014 - - - United States European - - - - retinal disease 16y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299662 FamPat9 PubMed: Wang 2014 - - - United States European - - - - retinal disease 13y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299663 FamPat10 PubMed: Wang 2014 - - - United States European - - - - retinal disease 5y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299664 FamPat12 PubMed: Wang 2014 - - - United States European - - - - retinal disease 5y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299665 FamPat13 PubMed: Wang 2014 - - - United States European - - - - retinal disease 19y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299666 FamPat14 PubMed: Wang 2014 - - - United States European - - - - retinal disease 23y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299667 FamPat19 PubMed: Wang 2014 - - - United States European - - - - retinal disease 13y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299668 FamPat22 PubMed: Wang 2014 - - - United States European - - - - retinal disease 6y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00299669 FamPat1 PubMed: Wang 2014 - - - United States European - - - - retinal disease 10y-onset nyctalopia (HP:0000662) 1 1 Johan den Dunnen
00377375 ? PubMed: Martin-Merida 2018 - - - Spain - - - - - retinal disease - 1 1 LOVD
00394322 RP4 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - retinal disease Early-onset RP, ERG consistent with RP 1 1 LOVD
00395597 RP-2176 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease astigmatism, early onset rod-cone dystrophy, exotropia, myopia, nystagmus, photophobia, abnormality of blood glucose concentration, hypothyroidism, insulin resistance, intellectual disability, motor delay, talipes cavus equinovarus, kyphoscoliosis, abnormal facial shapefetal distress 1 1 LOVD
00395887 F121 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00395930 F174 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00397837 PaC4:IV-1 PubMed: Kanwal 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - >11y - - - CMT Full-term pregnancy, 15m-unable to walk without support; 2,5y-gait disturbance (HP:0001288); absent deep tendon reflexes (HP:0001284); feet disformities; sensory loss (HP:0002936) 1 1 Sarah El-Bestawi
00409822 F1: II-1 PubMed: Yuan 2017 Family 1 individual II-1 F - - Han Chinese - - - - retinal disease best corrected visual acuity: hand motion both eyes; electroretinogram: rod: normal cone: mild reduction; visual field: central scotoma both eyes; optical coherence tomography: absence of ellipsoid and interdigitation zones both eyes; ophthalmoscopy: posterior pole atrophy both eyes, pigmented epithelial atrophy both eyes, 1 1 LOVD
00409823 F1: II-2 PubMed: Yuan 2017 Family 1 individual II-2 F - - Han Chinese - - - - retinal disease best corrected visual acuity: 20/25 right eye 20/30 left eye; electroretinogram: rod: mild reduction cone: moderate reduction; visual field: arcuate visual defect right eye, para central scotoma left eye; optical coherence tomography: absence of ellipsoid and interdigitation zones both eyes except fovea; ophthalmoscopy: ring shaped atrophic posterior pole with normal fovea both eyes 1 1 LOVD
00409824 F1: II-3 PubMed: Yuan 2017 Family 1 individual II-3 M - - Han Chinese - - - - retinal disease best corrected visual acuity: 20/30 both eyes; electroretinogram: rod: severe reduction cone: moderate reduction; visual field: constricted visual field both eyes; optical coherence tomography: absence of ellipsoid and interdigitation zones both eyes except fovea; ophthalmoscopy: bone-spicule pigmentary deposits with normal fovea both eyes, vascular attenuation 1 1 LOVD
00409825 F2: II-1 PubMed: Yuan 2017 Family 2 individual II-1 F - - white - - - - retinal disease best corrected visual acuity: 20/30 both eyes; electroretinogram: rod: moderate reduction cone: moderate reduction; visual field: constricted visual field both eyes; optical coherence tomography: not available; ophthalmoscopy: bone spicules both eyes, mild vascular attenuation, mild diffuse optic nerve pallor both eyes, pigmented epithelial atrophy 1 1 LOVD
00409826 F3: II-1 PubMed: Yuan 2017 Family 3 individual II-1 F - - white - - - - retinal disease best corrected visual acuity: 20/30 right eye 20/25 left eye; electroretinogram: not available; visual field: not available; optical coherence tomography: not available; ophthalmoscopy: bone spicules both eyes, apparent vascular attenuation, mild diffuse optic nerve pallor both eyes 1 1 LOVD
00409827 F4: II-1 PubMed: Yuan 2017 Family 4 individual II-1 M - - white - - - - retinal disease best corrected visual acuity: not available; electroretinogram: not available; visual field: not available; optical coherence tomography: bilateral retinal thinning; ophthalmoscopy: mild cystoid macular edema left eye, mild vascular attenuation, optic nerve pallor both eyes 1 1 LOVD
00409828 Patient 1 PubMed: Okur 2019 - F - - - - - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; short stature; age at sitting: delayed; age at walking: 2y3m; age at talking & current speech:delayed; dysmorphic features: 5th finger clinodactyly; neurologic & behavioral problems: ataxia anxiety; electroencephalogram: not available; brain magnetic resonance: abnormal signaling in caudate pathway and putamen; visual abnormalities: retinitis pigmentosa, peripheral vision loss and gaze abnormality; other abnormalities: kyphoscoliosis, pes planus 1 1 LOVD
00409829 Patient 2 PubMed: Okur 2019 - F - - - - - - - NEDVIBA Prenatal development: cystic brain lesions found at 7m gestation but later resolved; developmental delay, intellectual disability ; no microcephaly; short stature; age at sitting: 2y; age at walking: cannot walk unassisted; age at talking & current speech:First words at 14 months & significantly limited, expressive language now, only a few words; dysmorphic features: right earlobe crease, frontal bossing, epicanthal folds, anteverted nose, bulbous nasal tip, preauricular pit, thin upper lip; neurologic & behavioral problems: truncal hypotonia limb hypertonia (lower > upper) brisk deep tendon reflexs some contractures in hamstrings, no self-care skills; electroencephalogram: normal; brain magnetic resonance: cerebral & cerebellar atrophy, thin corpus callosum, periventricular leukomalacia, possible gray matter heterotropia; visual abnormalities: cortical visual impairment, strabismus, astigmatism; other abnormalities: scoliosis, bilateral hip dislocation (Wears AFOs), torticollis, clonus, and spasticity as innt, poor weight gain 1 1 LOVD
00409830 Patient 3 PubMed: Okur 2019 - M - - - - - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: 8m; age at walking: 1y6m; age at talking & current speech:2 years & Speaks in sentences and has word finding difficulties; dysmorphic features: none; neurologic & behavioral problems: ataxia, staring spells, tingling in legs (electromyography normal), hypotonia, will hug and kiss strangers; electroencephalogram: normal; brain magnetic resonance: cystic lesion on brain; visual abnormalities: retinitis pigmentosa, cone-rod dystrophy, optic atrophy, photophobia, slight exotropia, bilateral strabismus; other abnormalities: familial mediterranean fever (heterozygous MEFV mutation), gags easily and sometimes chokes on f 1 1 LOVD
00409831 Patient 4 PubMed: Okur 2019 - M - - - - - - - NEDVIBA Prenatal development: premature, born at 8m gestation; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: 8m; age at walking: 1y4m; age at talking & current speech:1y6m; dysmorphic features: none; neurologic & behavioral problems: none; electroencephalogram: not available; brain magnetic resonance: not available; visual abnormalities: retinitis pigmentosa (age of diagnosis: 7 years), optic atrophy; other abnormalities: hypertension 1 1 LOVD
00409832 Patient 5 PubMed: Okur 2019 - M - - - - - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: n/a; age at walking: 1y; age at talking & current speech:delayed & dysarthric speech; dysmorphic features: flat occiput, slight synophrys (father), widely spaced teeth; neurologic & behavioral problems: progressive neurologic decline, abnormal tone, mild wide spaced gait, bulbar weakness (mild drooling), swallowing dysfunction recent onset right-sided facial weakness; electroencephalogram: mild diffuse slowing; brain magnetic resonance: lesions in brainstem (concerning for a demyelinating disease vs autoimmune process vs Guillain Barre syndrome); visual abnormalities: bilateral optic atrophy; other abnormalities: full cheeks (steroid usage) ,truncal obesity, high blood vs zero cerebrospinal fluid glutamine, high cerebrospinal fluid lactate and pyruvate, high peripheral blood lactate 1 1 LOVD
00409833 Patient 6 PubMed: Okur 2019 - M - - - <1y - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: not achieved; age at walking: not achieved; age at talking & current speech:not achieved; dysmorphic features: none; neurologic & behavioral problems: seizures infantile spasms limb hypertonia; electroencephalogram: consistent with early myoclonic epileptic encephalopathy; brain magnetic resonance: abnormal autopsy findings volume loss along the white matter adjacent to the atria and frontal horns of the ventricle, atrophy of pons and brainstem, bilateral subdural fluid collection; visual abnormalities: optic atrophy nystagmus; other abnormalities: feeding difficulty, gastroesophageal reflux disease, small umbilical hernia, laryngotracheomalacia 1 1 LOVD
00409834 Patient 7 PubMed: Okur 2019 - F - - - <1y - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: not achieved; age at walking: not achieved; age at talking & current speech:not achieved; dysmorphic features: none; neurologic & behavioral problems: seizures infantile spasms hypertonia; electroencephalogram: abnormal (verbal disclosure); brain magnetic resonance: ventricular dilatation predominantly involving the occipital and temporal horns of the lateral ventricles with prominence of the subarachnoid space raising the possibility of underlying atrophy and a migrational anomaly; visual abnormalities: optic atrophy; other abnormalities: failure to thrive, gastroesophageal reflux disease, g-tube, hearing loss, laryngotracheomalacia respiratory distress 1 1 LOVD
00409835 ? PubMed: Sato 2019 - M - - Japanese - - - - retinal disease night blindness since school days; medical history: angina pectoris, hyperlipidemia, hypertrophy of the prostate but not anemia, hearing loss, or neurological symptoms; best corrected visual acuity right/left eye: 1.2 / 1.0, symmetric bilateral doughnut-shaped retinal degeneration, attenuated retinal vessels with pigment dispersion, optic nerve heads almost normal; fundus autofluorescence: symmetrical afferent low fundus autofluorescence lesion and slightly ring-shaped high fundus autofluorescence, surrounded by a low fundus autofluorescence lesion in the macula area in both eyes. Goldman perimetry: bilateral symmetrical ring scotoma; bright flash electroretinogram: negative b-wave pattern; a-wave amplitude and oscillatory potential preserved in both eyes; 30-Hz flicker electroretinogram: attenuated wave patterns in both eyes; spectral domain optical coherence tomography: retinal thinning in accordance with the low autofluorescence lesion by fundus autofluorescence and foveal thickening due to pre-retinal membrane formation without macular edema in both eyes; 71y: best corrected visual acuity right/left eye: 1.0 / 0.8; retinal degeneration progressed in the vertical direction of the optic disc in both eyes; fundus autofluorescence: centripetal enlargements of the low autofluorescence regions; minimal, but reduction of the low autofluorescence area of the macular region and small low autofluorescence region of the temporal macula in both eyes.Goldman perimetry: enlargement of the ring scotoma in the outward direction, but afferent expansion was not obvious in both eyes; bright flash electroretinogram and spectral domain optical coherence tomography: no obvious changes in either eye 1 1 LOVD
00420463 F121 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
00420495 F174 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
00429778 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00430053 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00430107 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00430129 - PubMed: Panneman 2023 - M - - - - - - - RP - 1 1 Daan Panneman
00438403 Pat122 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0001276 hypertonia 1 1 Johan den Dunnen
00447296 SRP-1197 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00447320 SRP-1264 PubMed: Weisschuh 2024 patient M - Germany - - - - - ? - 1 1 Johan den Dunnen
00447675 MDS-409 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447703 SRP-1122 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
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