eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| wildervanck syndrome | ||||
| Disease ID | 1854 |
|---|---|
| Disease | wildervanck syndrome |
| Definition | Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS), abnormalities of certain eye (ocular) movements (i.e., Duane syndrome), and/or hearing impairment that is present at birth (congenital).In individuals with KFS, there is abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Duane syndrome is characterized by limitation or absence of certain horizontal eye movements; retraction or drawing back of the eyeball into the eye cavity (orbit) upon attempting to look inward; and, in some cases, abnormal deviation of one eye in relation to the other (strabismus). In some affected individuals, additional physical abnormalities may also be present. In most cases, Wildervanck syndrome appears to occur randomly for unknown reasons (sporadically). - NORD Reference: NORD |
| Synonym | cervico-oculo-acoustic syndrome cervico-oculofacial syndrome cervicooculoacoustic syndrome wildervanck's syndrome wildervanck's syndrome (disorder) wilderwanck syndrome wilderwanck's syndrome wilderwanck's syndrome (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0265239 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1854 |
|---|---|
| Disease | wildervanck syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0002162 | Low posterior hairline HP:0000324 | Asymmetry of face HP:0000470 | Short neck HP:0000324 | Facial asymmetry HP:0008527 | Congenital sensorineural hearing impairment HP:0000465 | Pterygium colli HP:0001132 | Lens subluxation HP:0000465 | Webbed neck HP:0000365 | Hearing impairment HP:0011349 | Abducens palsy HP:0002949 | Fused cervical vertebrae HP:0010628 | Facial palsy HP:0000356 | Ear anomalies HP:0002435 | Meningocele HP:0000538 | Pseudopapilledema HP:0000384 | Preauricular skin tag |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1854 |
|---|---|
| Disease | wildervanck syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0338586 | vertebral artery dissection |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002949 | Fused cervical vertebrae | MP:0004620 | cervical vertebral fusion | the union of one or more cervical vertebrae into a single structure |
| HP:0000384 | Preauricular skin tag | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000356 | Abnormality of the outer ear | MP:0010701 | fusion of atlas and odontoid process | the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis |
| HP:0008527 | Congenital sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002435 | Meningocele | MP:0013349 | small Rathke's pouch | reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| HP:0002949 | Fused cervical vertebrae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002162 | Low posterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011349 | Abducens palsy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0000384 | Preauricular skin tag | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000356 | Abnormality of the outer ear | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000465 | Webbed neck | 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:0008527 | Congenital sensorineural hearing impairment | 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:0000538 | Pseudopapilledema | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1854 |
|---|---|
| Disease | wildervanck syndrome |
| Case | (Waiting for update.) |