| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
30614390 |
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene. Nicolas-Jilwan M. Neuroradiol J. 2019;32(2):143-147. |
| Progressive microcephaly | ||
| Basal Ganglia Child, Preschool Cytochromes b5 Homo sapiens Infant Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Male Methemoglobinemia Mutation Sibling | ||
| 1 (39.0%) |
24413360 |
Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy. Devadathan K, Sreedharan M, Sarasam S, Colah RB, Kunju PA. J Child Neurol. 2014;29(11):NP139-42. |
| Microcephaly | ||
| Brain Cerebral Palsy Child, Preschool Cyanosis Differential Diagnosis Dystonia Disorders Family Females Homo sapiens Infant Magnetic Resonance Imaging Methemoglobinemia Microcephaly | ||
| 1 (39.0%) |
19480335 |
A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II. Yuksel D, Senbil N, Yilmaz D, Yarali N, Gurer YK. Turk J Pediatr. 2009;51(2):187-9. |
| Microcephaly | ||
| CYB5R3 | ||
| Child, Preschool Genes, Recessive Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Methemoglobinemia Sibling Vitamins | ||
| 1 (39.0%) |
11215870 |
A Thai boy with hereditary enzymopenic methemoglobinemia type II. Shotelersuk V, Tosukhowong P, Chotivitayatarakorn P, Pongpunlert W. J Med Assoc Thai. 2000;83(11):1380-6. |
| Microcephaly | ||
| HBG2 | ||
| Child, Preschool Cytochrome Reductases Hemoglobin Homo sapiens Male Methemoglobin Methemoglobinemia Severity of Illness Index Thailand | ||
| 5 (17.5%) |
30767280 |
Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog. Zhou S, Tearle R, Jozani RJ, Winra B, Schaaf O, Nicholson A, Peaston A. J Vet Intern Med. 2019;33(2):868-873. |
| Cyanosis Exercise intolerance | ||
| CYB5R3 | ||
| p|SUB|I|194|L | ||
| Animals Australia Canis familiaris Cyanosis Dog Diseases Females Methemoglobinemia Missense Mutation | ||
| 6 (4.0%) |
31269924 |
Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report. Shin C, Hong M, Kim M, Lee JH. BMC Pediatr. 2019;19(1):221. |
| Cyanosis | ||
| Cyanosis Differential Diagnosis Exons Hemoglobin M Homo sapiens Infant, Newborn Male Methemoglobin Methemoglobinemia Point Mutation alpha-Globins | ||
| 6 (4.0%) |
31080263 |
Hereditary methemoglobinemia in a cyanotic cat presented for ovariohysterectomy. Vasiliadou E, Karakitsou V, Kazakos G, Oikonomidis IL, Tsouloufi TK, Kosmas P, Abdulmalik OY, Koutinas C, Giger U, Mylonakis ME. Can Vet J. 2019;60(5):502-506. |
| Anemia | ||
| Animals Cat Diseases Erythrocytes Felis catus Females Homo sapiens Hysterectomy Methemoglobinemia Ovariectomy | ||
| 6 (4.0%) |
30788079 |
'Acute leukemia in congenital methehemoglobinemia - an enigma to explore'. Al-Khafaji JF, Sharma M, Nayeemuddin K, Al-Qaysi IA, Al-Mashhadani AA, Taha ME, Abdalla AO. J Community Hosp Intern Med Perspect. 2019;9(1):55-58. |
| Leukemia | ||
| 6 (4.0%) |
29756717 |
[Cyanosis in 14-year-old patient. Methemoglobinemia: case report]. Orlandi M, Amadi MA, Goldaracena PX, Pereza FE. Arch Argent Pediatr. 2018;116(3):e429-e432. |
| Cyanosis | ||
| HBG2 | ||
| Cyanosis Differential Diagnosis Homo sapiens Male Methemoglobinemia | ||
| 6 (4.0%) |
29721250 (5907642) |
Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. Soliman DS, Yassin M. Hematol Rep. 2018;10(1):7221. |
| Cyanosis | ||
| CYB5A EPO HBG2 JAK2 | ||
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000961 | Cyanosis | 10 |
| HP:0012119 | Methemoglobinemia | 4 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001332 | Dystonia | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002488 | Acute leukemia | 1 |
| HP:0012418 | Hypoxemia | 1 |
| HP:0025116 | Fetal distress | 1 |