| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
30692772 |
Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutieres Syndrome. Samanta D, Ramakrishnaiah R. Ann Indian Acad Neurol. 2019;22(1):111-115. |
| Microcephaly | ||
| ADAR IFIH1 JAG1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1 | ||
| 2 (28.9%) |
10863235 |
Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. Alfadley A, Al Ajlan A, Hainau B, Pedersen KT, Al Hoqail I. J Am Acad Dermatol. 2000;43(1 Pt 1):113-7. |
| Palmar pits | ||
| Adult Females Homo sapiens Hyperpigmentation Male | ||
| 3 (20.4%) |
11771159 |
[A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis]. Tojyo K, Hattori T, Sekijima Y, Yoshida K, Ikeda S. Rinsho Shinkeigaku. 2001;41(6):299-305. |
| Mental deterioration Aortic valve calcification | ||
| Adult Brain Diseases, Metabolic Calcinosis Dystonia Females Homo sapiens Intellectual Disability Magnetic Resonance Imaging Pigmentation Disorders Sclerosis | ||
| 4 (4.0%) |
29321362 |
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review. Liu SM, Ni MX, Zhang MC, Zhu PR, Wu QY, Jiang WJ, Zhang J, Li WW, Xia XY. J Genet. 2017;96(6):1021-1026. |
| Freckling | ||
| ADAR | ||
| p|SUB|L|1052|P | ||
| Adult DNA Mutational Analysis Exons Females Genetic Predisposition to Disease Homo sapiens Male Middle Aged Missense Mutation Pigmentation Pigmentation Disorders RNA-Binding Proteins | ||
| 4 (4.0%) |
28496371 (5422500) |
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism. Al-Saif F, Alhumidi A, Alhallaf RA. Int Med Case Rep J. 2017;10:149-152. |
| Hyperthyroidism | ||
| 4 (4.0%) |
28393185 |
Two novel ADAR1 gene mutations in two patients with dyschromatosis symmetrical hereditaria from birth. Zhou Q, Zhang L, Zhang Y, Luo H, Zhu L, Wang P, Zhang G, Wang X. Mol Med Rep. 2017;15(6):3715-3718. |
| Hemangioma | ||
| ADAR | ||
| p|FS|E|673|V|652 p|SUB|Y|1192|X | ||
| Alleles Child, Preschool DNA Mutational Analysis Females Genetic Association Studies Genetic Predisposition to Disease Genotype Homo sapiens Infant Male Mutation Phenotype Pigmentation Disorders RNA-Binding Proteins | ||
| 4 (4.0%) |
28139822 |
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. Piekutowska-Abramczuk D, Mierzewska H, Bekiesinska-Figatowska M, Ciara E, Trubicka J, Pronicki M, Rokicki D, Rydzanicz M, Ploski R, Pronicka E. Folia Neuropathol. 2016;54(4):405-409. |
| Freckling | ||
| ADAR | ||
| c|SUB|C|577|G;RS#:397514505|145588689 c|SUB|G|3202+1|A p|SUB|P|193|A;RS#:397514505|145588689 | ||
| Child, Preschool Dystonia Females Homo sapiens Leigh Disease Magnetic Resonance Imaging Male Mutation RNA-Binding Proteins Sibling Striatonigral Degeneration | ||
| 4 (4.0%) |
22470208 (3312656) |
Reticulate acropigmentation of dohi: a case report with insight into genodermatoses with mottled pigmentation. Mohana D, Verma U, Amar AJ, Choudhary RK. Indian J Dermatol. 2012;57(1):42-4. |
| Mottled pigmentation | ||
| 4 (4.0%) |
21128916 |
Dyschromatosis symmetrica hereditaria: report of a sporadic case. Consigli J, Zanni MS, Ragazzini L, Danielo C. Int J Dermatol. 2010;49(8):918-20. |
| Vitiligo | ||
| Biopsy Child Homo sapiens Male Pigmentation Disorders Skin | ||
| 4 (4.0%) |
19951641 |
Hyper- and hypopigmented macules over palms and soles since birth--a case of dyschromatosis symmetrica hereditaria. Hemmati I, Lam J. Dermatol Online J. 2009;15(11):5. |
| Hypopigmented macule | ||
| Child, Preschool Females Follow-Up Studies Foot Dermatoses Genetic Predisposition to Disease Hand Dermatoses Homo sapiens Hyperpigmentation Pigmentation Disorders Skin Diseases, Genetic |
Total: 4
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0007988 | Macular hypopigmentation | Very frequent (99-80%) |
| HP:0011509 | Macular hyperpigmentation | Very frequent (99-80%) |
| HP:0012733 | Macule | Very frequent (99-80%) |
| HP:0001304 | Torsion dystonia | Frequent (79-30%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0020073 | Hypopigmented macule | 7 |
| HP:0001480 | Freckling | 2 |
| HP:0001070 | Mottled pigmentation | 1 |
| HP:0001268 | Mental deterioration | 1 |
| HP:0001332 | Dystonia | 1 |
| HP:0010783 | Erythema | 1 |
| HP:0012733 | Macule | 1 |