All individuals with variants in gene MYOF

10 entries on 1 page. Showing entries 1 - 10.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
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) 1 1 Yu Sun
00265203 Pat PubMed: Kiselev 2019 - F - Sweden - - - - - MD see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy 3 1 Johan den Dunnen
00307910 KC003_1 - - - - - - - - - - KTCN Keratoconus 1 1 Tawfiq Froukh
00454900 family PubMed: Ariano 2020, Journal: Ariano 2020 2-generation family in which a mother and her 2 daughters had HAE with normal C1INH F no Italy - - - - - HAE7 History of recurrent angioedema without urticaria and not responding to antihistamines and steroids for acute attacks or prophylaxis 1 3 Christian Drouet
00469537 - PubMed: Fomina 2025, Journal: Fomina 2025 2-generation Russian family with a male proband M no Russia - - - - - HAE7 Swellings of genital area, tongue, lips, and upper extremities; attacks preceded by a series of prodroms, including hyperesthesia, tingling, marginal erythema. In the absence of therapeutic intervention, the AE stayed for a period of up to 72 hours. The average frequency of AE prior to the initiation of therapy was once every 2 months. 1 1 Christian Drouet
00469538 - PubMed: Fomina 2025, Journal: Fomina 2025 2-generation family, 1 affected, unaffected non-carrier parents F no Russia - - - - - HAE7 Angioedema appearance in the coccyx area during surgery for a coccygeal cyst. Subsequently, the AE attacks occurred involving eyelids, lips, larynx, pharynx, hands, and feet, but no preceding symptoms were observed. In the absence of therapeutic intervention, the angioedema typically resolved within a period of 72h with the frequency on average 2–4 times per month. 1 1 Christian Drouet
00469715 Pat1 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family (Huashan Hospital) F no China - - - - - HAE7 HAE-nC1INH with unilateral lower extremity swelling triggered after a dog bite and vaccination. The swelling remained incompletely solved but demonstrated intermittent exacerbations, particularly under stress. The patient also reported two episodes of severe abdominal pain and transient voice changes. Treatment with antihistamines, corticosteroids, herbal medicines, and omalizumab yielded no improvement. 1 1 Christian Drouet
00469716 Pat2 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family (Huashan Hospital) F no China - - - - - HAE7 HAE-nC1INH with recurrent severe abdominal pain, vomiting, diarrhea, and episodic swelling affecting the wrists and bilateral lower extremities; symptoms persisting for 2–7 days per episode. No improvement with glucocorticoid, but shortened episode duration with icatibant and effective symptom control with lanadelumab. 1 1 Christian Drouet
00469718 Pat3 PubMed: Gao 2025, Journal: Gao 2025 A single individual in a Chinese family without family history of HAE-nC1INH F - China - - - - - HAE7 HAE-nC1INH with recurrent swelling of the hands and eyelids along with severe abdominal pain, exacerbated by stress, emotional factors, and pollen exposure but resistant to oral antihistamines. 1 1 Christian Drouet
00469719 Pat4 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family M no China - - - - - HAE7 HAE-nC1INH with recurrent skin swelling primarily involving the extremities and tongue, more frequent following emotional stress and poor sleep. 1 1 Christian Drouet
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.