All individuals with variants in gene OFD1

46 entries on 1 page. Showing entries 1 - 46.
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00000071 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000166 - PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond 2 208 Johan den Dunnen
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 3 1 Yu Sun
00028926 2-52 Pat16 PubMed: Kroes 2016 - M - (Netherlands) Europe-N - - - - JBTS1 - 1 1 Sanne Savelberg
00204291 - - - - - - - - - - - OFD1 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00233534 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233535 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233536 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00233537 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 4 Yoshito Koyanagi
00233538 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 16 Yoshito Koyanagi
00233539 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233800 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00233801 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00269300 - - - M - - - - - - - ? Tremor (HP:0001337); Involuntary movements (HP:0004305); Dystonia (HP:0001332); Myoclonus (HP:0001336); Athetosis (HP:0002305) 1 1 Andreas Laner
00307756 UK10K_FINDWGA5411008 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - - - - ID - 1 1 Johan den Dunnen
00309629 FamAPatVI3 PubMed: Chen 2018 son M yes China - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00328421 690811B PubMed: Zhou 2018 - M - China - - - - - retinal disease - 1 1 LOVD
00331538 13DG0106 PubMed: Maddirevula 2018 isolated case F - - Arab - - - - skeletal dysplasia Cleft palate, Lobulated tongue, Seizures, Hypoplasia of the corpus callosum, Pontocerebel Yes 1 1 LOVD
00335983 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00358849 Fam7 PubMed: Suzuki 2016 - - no Japan - - - - - JBTS severe intellectual disability; severe developmental delay; hypotonia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly 1 1 LOVD
00358858 Fam16 PubMed: Suzuki 2016 - - no Japan - - - - - JBTS moderate intellectual disability; severe developmental delay; retina problems; coloboma; no kidney problems; no liver symptoms; no encephalocele; polydactyly 1 1 LOVD
00363569 Fam695Pat1686,595 PubMed: Srour 2015 - M - Canada French-Canadian - - - - JBTS see paper; ... 1 1 LOVD
00372302 UW087-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372303 UW172-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372304 UW172-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372305 UW239-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372306 UW274-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372386 ND10891 PubMed: Bachmann-Gagescu 2015 control - - - - - - - - Healthy/Control - 1 1 LOVD
00372647 RP259 PubMed: Xu 2014 family M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00377683 3331 PubMed: Brooks 2018 family 70 M - United States - - - - - retinal disease vessel attenuation, optic nerve atrophy 1 1 LOVD
00377684 452 PubMed: Brooks 2018 family 71 M - United States - - - - - retinal disease liver disease, oculomotor apraxia, nystagmus, strabismus, ptosis 1 1 LOVD
00379433 - PubMed: Zhou 2011 - M - China - - - - - retinal disease - 1 1 LOVD
00386703 OGI2829_004414 PubMed: Zampaglione-2020 - ? - - - - - - - retinal disease - 1 1 LOVD
00388091 452 PubMed: Summers 2017 - - - United States - - - - - retinal disease - 1 1 LOVD
00395021 K1 PubMed: Zacchia 2021 - ? - (Italy) - - - - - retinal disease - 1 1 LOVD
00396714 T929 - - M - - - - - - - hamartoma - 1 1 Michael Hildebrand
00396715 T25052 - - M - - - - - - - hamartoma - 1 1 Michael Hildebrand
00396716 T25056 - - M - - - - - - - hamartoma - 1 1 Michael Hildebrand
00396717 T25073 - - M - - - - - - - hamartoma - 1 1 Michael Hildebrand
00405270 II:1, IV:4 and V:2 PubMed: Webb-2012 Family with 3 affected males and 3 female carriers M - - - - - - - retinal disease - 2 3 LOVD
00405271 III: 2 PubMed: Wang-2017 - M no (China) - - - - - retinal disease night blindness, mottled retina without bone spicule-like pigmentation, and extinguished scotopic ERG response in both eyes indicated RP without pigmentation. Progressive decrease in bilateral visual acuity, pale optic discs, abnormal VEP, loss of central visual field, and demyelinating spot in the brain MRI suggested IDON by excluding other optic neuropathies. 1 1 LOVD
00419215 ? PubMed: Sharma 2016 - M - - - - - - - OFD1 9y9m: presented to the Emergency Department for evaluation of a one-week history of increased urinary frequency and thirst, also complained of decreased appetite; noted to have a 7 lbs unintentional weight loss over the past week; strong family history of diabetes mellitus; blood glucose finger stick: elevated, 138 mg/dL, urinalysis: glucosuria 100 mg/dL; birth history: remarkable for prematurity (induced at 36 weeks for intrauterine growth restriction), born via Cesarean section secondary to fetal distress; birth weight: 2690g, length: 48.3 cm, monitored in the neonatal intensive care unit for 24 hours for concerns of hypoglycemia given maternal gestational diabetes but his blood glucose levels remained within normal range, noted to have jaundice but did not require phototherapy, passed newborn hearing screen prior to discharge. Past medical history: significant for an endocrine evaluation at 4y3m: polyuria, polydipsia, and weight gain; weight: stable in the 50th percentile until approximately 2 years of age, increased to the 90th percentile, 99th percentile at the time of endocrinology clinic visit; height: 25th percentile at 3y, approximately 15th percentile at the time of his endocrinology visit; evaluation remarkable for an elevated fasting blood glucose level of 113 mg/dL and mildly elevated thyroid stimulating hormone at 5.3 mIU/L (normal range 0.5-4.3 mIU/L); serum creatinine: 0.41 mg/dL, electrolytes: unremarkable; further studies recommended for evaluation of thyroid function and Cushing’s syndrome but not completed at that time; history of multiple sinus and ear infections requiring adenoidectomy and four sets of myringotomy tubes being placed over his lifetime; speech delay as sequela of his frequent ear infections, received speech therapy twice weekly and hearing therapy three times weekly, physical and occupational therapy services until he was in kindergarten for delayed milestones including walking at 16 months of age; receives additional support for reading; formal academic testing: not yet cometed; immunologic evaluation at an outside hospital due to his frequent infections: unremarkable; diagnosed with asthma starting at 1 year of age and: prescribed fluticasone and cetirizine; family history: notable for maternal renal injury secondary to diabetes occurring during pregnancy but not requiring renal replacement therapy; photophobia in his mother, nephrolithiasis in the maternal grandfather and maternal aunt, hypertension in the maternal grandfather, and hearing loss and photophobia in a first cousin on the maternal side; no family history of consanguinity; subjective chills and constipation, waking at night to drink and to void. He denied fever, abdominal pain, daytime or nighttime enuresis, urgency, dysuria, inability to empty his bladder, or hematuria; Emergency Department blood pressure: 123/71 mmHg, weight: 37 kg (82nd percentile), and height: 127.5 cm (3rd percentile); grade 2/6 systolic ejection murmur and hypogonadism; photophobia during his eye exam, no other dysmorphic features noted; initial laboratory work-up: elevated serum creatinine of 4.4 mg/dL, low serum calcium of 7.7 mg/dL (8.8-10.1 mg/dL), and slightly elevated serum phosphorus of 6.1 mg/dL (3.7-5.6 mg/dL), serum intact parathyroid hormone level: elevated at 340 pg/mL (9- 52 pg/mL); complete blood count: normocytic anemia with serum hemoglobin of 8.1 g/dL (11.5-15.5 g/dL); urinalysis: moderate blood, no proteinuria, no leukocyte esterase, and a specific gravity of ≤1.005; renal/bladder ultrasound: small kidneys with right kidney 6.6 cm and left kidney 7.8 cm with increased echogenicity bilaterally and no evidence of cystic disease; echocardiogram given his finding of a murmur: unremarkable; ophthalmology exam performed with concern for cystinosis but cystine crystals not visualized; diagnosed with bilateral retinal dystrophy with 20/50 right and 20/30 left eye; bone age test secondary to concerns of short stature: greater than 2 standard deviations above his chronological a 1 1 LOVD
00419216 III:5 PubMed: Tsurusaki 2012 son of II:2; deceased brother and maternal uncle with the same abnormalities M - Japan Japanese 1d - - - OFD1 delivered by caesarean section at 32 weeks of gestation; pregnancy complicated by polyhydramnios, intrauterine growth retardation, and congenital heart defects; birth weight: 1704 g (-0.2 SD), length: 40.0 cm (-0.8 SD), and occipital frontal circumference: 33.3 cm (+2.0 SD); admitted to a NICU because of respiratory insufficiency, and received mechanical ventilation; craniofacial features: a prominent forehead, hypertelorism, dysplastic ears, a small cleft lip, and a soft cleft palate; ultrasonography: hydrocephalus with Dandy-Walker malformation and hypoplastic left heart syndrome; died 1 day after birth; autopsy findings: agenesis of the cerebellar vermis, enlargement of the fourth ventricle and aqueduct, anomalous positioning of the esophagus, mild pulmonary congestion, and insufficient lobulation of the right lung 1 1 LOVD
00419217 II:2 PubMed: Tsurusaki 2012 mother of III:5; brother and another deceased son with the same abnormalities as the son; two miscarriages (III-2, artificial; III-4, spontaneous) F - Japan Japanese - - - - OFD1 very mild, only a few accessory frenulae and irregular teeth with no facial anomalies or tongue abnormalities; radiograph of hands: no abnormalities; an abdominal ultrasonography: no cysts in the kidneys, liver, or pancreas 1 1 LOVD
00440471 PED3376.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
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