eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| waardenburg syndrome | ||||
| Disease ID | 491 |
|---|---|
| Disease | waardenburg syndrome |
| Definition | rare, autosomal dominant disease with variable penetrance and several known clinical subtypes; characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum; the underlying cause may be defective development of the neural crest (neurocristopathy); may be closely related to piebaldism; Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. |
| Synonym | syndrome waardenburg syndrome, waardenburg syndrome, waardenburg's van der hoeve halbertsona waardenburg syndrome waardenburg syndrome [disease/finding] waardenburg's syndrome waardenburg's syndrome (disorder) waardenburg, types i and ii waardenburg, types i and/or ii waardenburgs syndrome white forelock syndrome |
| Orphanet | |
| DOID | |
| UMLS | C3266898 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0158699 | renal agenesis | 1 C0002418 | amblyopia | 1 C0025202 | melanoma | 1 C0035309 | retinopathy | 1 C0008924 | cleft lip | 1 C0011884 | diabetic retinopathy | 1 C0025202 | malignant melanoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:46) 121536 | AEBP2 | 3.422 | DISEASES 250 | ALPP | 3.594 | DISEASES 11335 | CBX3 | 1.81 | DISEASES 64072 | CDH23 | 1.418 | DISEASES 1028 | CDKN1C | 1.509 | DISEASES 7401 | CLRN1 | 2.205 | DISEASES 1285 | COL4A3 | 1.815 | DISEASES 1297 | COL9A1 | 1.9 | DISEASES 1638 | DCT | 2.325 | DISEASES 1798 | DPAGT1 | 1.063 | DISEASES 1908 | EDN3 | 5.907 | DISEASES 1910 | EDNRB | 5.861 | DISEASES 2138 | EYA1 | 1.687 | DISEASES 2335 | FN1 | 2.661 | DISEASES 27022 | FOXD3 | 1.217 | DISEASES 2308 | FOXO1 | 1.466 | DISEASES 2668 | GDNF | 2.438 | DISEASES 2705 | GJB1 | 1.49 | DISEASES 2706 | GJB2 | 2.848 | DISEASES 2737 | GLI3 | 1.446 | DISEASES 3295 | HSD17B4 | 1.533 | DISEASES 23210 | JMJD6 | 1.135 | DISEASES 4116 | MAGOH | 2.851 | DISEASES 4208 | MEF2C | 1.007 | DISEASES 4549 | MT-RNR1 | 1.792 | DISEASES 4693 | NDP | 1.64 | DISEASES 7025 | NR2F1 | 1.649 | DISEASES 7026 | NR2F2 | 1.451 | DISEASES 4948 | OCA2 | 1.914 | DISEASES 5075 | PAX1 | 3.332 | DISEASES 5077 | PAX3 | 7.175 | DISEASES 5078 | PAX4 | 1.116 | DISEASES 5079 | PAX5 | 1.297 | DISEASES 5080 | PAX6 | 3.129 | DISEASES 5081 | PAX7 | 3.118 | DISEASES 5083 | PAX9 | 2.505 | DISEASES 65217 | PCDH15 | 1.52 | DISEASES 5454 | POU3F2 | 1.504 | DISEASES 5979 | RET | 3.946 | DISEASES 11196 | SEC23IP | 2.632 | DISEASES 6663 | SOX10 | 7.285 | DISEASES 9580 | SOX13 | 1.965 | DISEASES 6667 | SP1 | 1.376 | DISEASES 6736 | SRY | 3.329 | DISEASES 6899 | TBX1 | 1.545 | DISEASES 7306 | TYRP1 | 3.18 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 491 |
|---|---|
| Disease | waardenburg syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:30) HP:0002216 | Premature graying of hair HP:0002211 | White forelock HP:0000365 | Hearing impairment HP:0001000 | Abnormality of skin pigmentation HP:0002251 | Aganglionic megacolon HP:0100811 | Aplasia/Hypoplasia of the colon HP:0000508 | Ptosis HP:0005214 | Intestinal obstruction HP:0000130 | Abnormality of the uterus HP:0000506 | Telecanthus HP:0001053 | Hypopigmented skin patches HP:0000271 | Abnormality of the face HP:0000478 | Abnormality of the eye HP:0000632 | Lacrimation abnormality HP:0000153 | Abnormality of the mouth HP:0000159 | Abnormality of the lip HP:0005599 | Hypopigmentation of hair HP:0001100 | Heterochromia iridis HP:0002475 | Myelomeningocele HP:0000664 | Synophrys HP:0001999 | Abnormal facial shape HP:0000431 | Wide nasal bridge HP:0000405 | Conductive hearing impairment HP:0000202 | Oral cleft HP:0000426 | Prominent nasal bridge HP:0000142 | Abnormality of the vagina HP:0000504 | Abnormality of vision HP:0011024 | Abnormality of the gastrointestinal tract HP:0000534 | Abnormality of the eyebrow HP:0000430 | Underdeveloped nasal alae |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0000365 | Hearing impairment | 2 HP:0000122 | Unilateral kidney agenesis | 1 HP:0007894 | Retinal depigmentation | 1 HP:0000646 | Wandering eyes | 1 HP:0002019 | Dyschezia | 1 HP:0002251 | Hirschsprung megacolon | 1 HP:0000488 | Noninflammatory retina disease | 1 HP:0012054 | Choroidal melanoma | 1 HP:0007033 | Cerebellar dysplasia | 1 HP:0000104 | Renal agenesis | 1 HP:0000405 | Conductive hearing loss | 1 HP:0001010 | Hypopigmentation of the skin | 1 HP:0000519 | Cataracts, lenticular, bilateral | 1 HP:0002861 | Melanoma | 1 |
| Disease ID | 491 |
|---|---|
| Disease | waardenburg syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908111 | 9302254 | 5077 | PAX3 | umls:C3266898 | BeFree | To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G). | 0.137392143 | 1997 | PAX3;CCDC140 | 2 | 222297156 | C | G |
| rs121908111 | 9302254 | 5080 | PAX6 | umls:C3266898 | BeFree | To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G). | 0.000271442 | 1997 | PAX3;CCDC140 | 2 | 222297156 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000430 | Underdeveloped nasal alae | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0000142 | Abnormality of the vagina | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0100811 | Aplasia/Hypoplasia of the colon | MP:0000741 | impaired contractility of urinary bladder detrusor smooth muscle | inability or reduced ability of the detrusor smooth muscle of the urinary bladder to shorten or to develop increased tension voluntarily or involuntarily; stretching of the smooth muscle fibers by accumulation of urine in the bladder leads to nervous sign |
| HP:0002216 | Premature graying of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0000534 | Abnormality of the eyebrow | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000153 | Abnormality of the mouth | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0005599 | Hypopigmentation of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0000130 | Abnormality of the uterus | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0000426 | Prominent nasal bridge | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
Mapped by homologous gene(Total Items:28) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000632 | Lacrimation abnormality | MP:0013721 | abnormal mammary placode morphology | any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible loca |
| HP:0005599 | Hypopigmentation of hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000142 | Abnormality of the vagina | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0001100 | Heterochromia iridis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000506 | Telecanthus | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002216 | Premature graying of hair | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002475 | Myelomeningocele | MP:0013309 | adrenal gland cyst | presence of fluid-filled usually benign growths in the adrenal gland |
| HP:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000426 | Prominent nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100811 | Aplasia/Hypoplasia of the colon | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002211 | White forelock | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000430 | Underdeveloped nasal alae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000202 | Oral cleft | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000153 | Abnormality of the mouth | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000130 | Abnormality of the uterus | MP:0013508 | increased granulosa cell apoptosis | increase in the timing or the number of granulsa cells undergoing programmed cell death |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000534 | Abnormality of the eyebrow | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 491 |
|---|---|
| Disease | waardenburg syndrome |
| Case | (Waiting for update.) |