| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 18 (29.4%) |
8300941 |
Spontaneous contraction of leukodermic patches in Waardenburg syndrome. Chang T, Hashimoto K, Bawle EV. J Dermatol. 1993;20(11):707-11. |
| Synophrys | ||
| Females Homo sapiens Infant Piebaldism Skin Pigmentation Waardenburg Syndrome | ||
| 18 (29.4%) |
1844076 |
[Waardenburg syndrome]. Li D, Ma Q, Chen Y, Zeng L. Yan Ke Xue Bao. 1991;7(4):196-8, 171. |
| Synophrys | ||
| Homo sapiens Male Waardenburg Syndrome | ||
| 23 (26.3%) |
29678855 |
De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism. Wang F, Zhao S, Xie Y, Yang W, Mo Z. Ann Clin Lab Sci. 2018;48(2):248-252. |
| Hypogonadism Anosmia | ||
| SOX10 | ||
| c|SUB|G|565|T;RS#:74315514 p|SUB|E|189|X;RS#:74315514 | ||
| Adult Codon, Nonsense DNA Mutational Analysis Deafness Homo sapiens Hyperthyroidism Kallmann Syndrome Magnetic Resonance Imaging Male SOXE Transcription Factors | ||
| 23 (26.3%) |
26228106 |
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation. Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y. Horm Res Paediatr. 2015;84(3):212-6. |
| Hypogonadism Anosmia | ||
| SOX10 | ||
| p|SUB|L|145|P | ||
| Child Exons Homo sapiens Iris Diseases Kallmann Syndrome Male Missense Mutation SOXE Transcription Factors Sexual Maturation | ||
| 25 (23.3%) |
28686331 |
Neural tube defects in Waardenburg syndrome: A case report and review of the literature. Hart J, Miriyala K. Am J Med Genet A. 2017;173(9):2472-2477. |
| Hydrocephalus Sacral dimple | ||
| PAX3 | ||
| Arnold Chiari Malformation Homo sapiens Hydrocephalus Infant, Newborn Male Meningomyelocele Missense Mutation PAX3 Transcription Factor Spina Bifida Waardenburg Syndrome | ||
| 25 (23.3%) |
11992879 |
Retinoblastoma metastatic to the ovary in a patient with Waardenburg syndrome. Moshfeghi DM, Wilson MW, Haik BG, Hill DA, Rodriguez-Galindo C, Pratt CB. Am J Ophthalmol. 2002;133(5):716-8. |
| Urinary retention Back pain | ||
| Brain Neoplasms Child, Preschool Fatal Outcome Females Homo sapiens Ovariectomy Retinal Neoplasms Retinoblastoma Waardenburg Syndrome | ||
| 27 (20.4%) |
30636638 |
The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report. Rankine-Mullings AE, Serjeant G, Ramsay Z, Hanchard NA, Asnani M. J Med Case Rep. 2019;13(1):10. |
| Blue irides Bone pain | ||
| Anemia, Sickle Cell Delayed Diagnosis Fatal Outcome Females Hirschsprung Disease Homo sapiens Middle Aged Waardenburg Syndrome | ||
| 28 (4.0%) |
30546928 (6251238) |
Waardenburg Syndrome and Left Persistent Superior Vena Cava. Raissi D, Christie A, Applegate K. J Clin Imaging Sci. 2018;8:44. |
| Abnormality of the skin | ||
| 28 (4.0%) |
30345200 (6188159) |
A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan. Nusrat M, Tariq MA, Aslam S, Zil-E-Ali A, Shahid M, Mahmood S. Cureus. 2018;10(8):e3143. |
| Blue irides | ||
| 28 (4.0%) |
29962674 (5998718) |
Rare Association of Waardenburg Syndrome with Minimal Change Disease. Anvesh G, Raju SB, Prasad K, Sharma A, Surendra M. Indian J Nephrol. 2018;28(3):226-228. |
| Nephrotic syndrome | ||
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000504 | Abnormality of vision | Very frequent (99-80%) |
| HP:0000664 | Synophrys | Very frequent (99-80%) |
| HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
| HP:0001053 | Hypopigmented skin patches | Very frequent (99-80%) |
| HP:0001100 | Heterochromia iridis | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002216 | Premature graying of hair | Very frequent (99-80%) |
| HP:0005599 | Hypopigmentation of hair | Very frequent (99-80%) |
| HP:0000153 | Abnormality of the mouth | Frequent (79-30%) |
| HP:0000159 | Abnormal lip morphology | Frequent (79-30%) |
| HP:0000271 | Abnormality of the face | Frequent (79-30%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000534 | Abnormal eyebrow morphology | Frequent (79-30%) |
| HP:0000632 | Lacrimation abnormality | Frequent (79-30%) |
| HP:0002211 | White forelock | Frequent (79-30%) |
| HP:0000130 | Abnormality of the uterus | Occasional (29-5%) |
| HP:0000142 | Abnormal vagina morphology | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002475 | Myelomeningocele | Occasional (29-5%) |
| HP:0005214 | Intestinal obstruction | Occasional (29-5%) |
| HP:0011024 | Abnormality of the gastrointestinal tract | Occasional (29-5%) |
| HP:0100811 | Aplasia/Hypoplasia of the colon | Occasional (29-5%) |
Total: 48
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000528 | Anophthalmia | 3 |
| HP:0001045 | Vitiligo | 3 |
| HP:0001100 | Heterochromia iridis | 3 |
| HP:0000506 | Telecanthus | 2 |
| HP:0000568 | Microphthalmia | 2 |
| HP:0001022 | Albinism | 2 |
| HP:0001159 | Syndactyly | 2 |
| HP:0009830 | Peripheral neuropathy | 2 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000546 | Retinal degeneration | 1 |
| HP:0000555 | Leukocoria | 1 |
| HP:0000577 | Exotropia | 1 |
| HP:0000635 | Blue irides | 1 |
| HP:0000646 | Amblyopia | 1 |
| HP:0000664 | Synophrys | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000951 | Abnormality of the skin | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0001332 | Dystonia | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0002019 | Constipation | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002211 | White forelock | 1 |
| HP:0002216 | Premature graying of hair | 1 |
| HP:0002290 | Poliosis | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002444 | Hypothalamic hamartoma | 1 |
| HP:0002861 | Melanoma | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005214 | Intestinal obstruction | 1 |
| HP:0007033 | Cerebellar dysplasia | 1 |
| HP:0007110 | Central hypoventilation | 1 |
| HP:0007443 | Partial albinism | 1 |
| HP:0007730 | Iris hypopigmentation | 1 |
| HP:0007894 | Hypopigmentation of the fundus | 1 |
| HP:0009916 | Anisocoria | 1 |
| HP:0011286 | Total colonic aganglionosis | 1 |
| HP:0012165 | Oligodactyly | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0012450 | Chronic constipation | 1 |
| HP:0012636 | Retinal vein occlusion | 1 |
| HP:0030721 | Tetraphocomelia | 1 |
| HP:0410030 | Cleft lip | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|