Waardenburg Syndrome, Type 4a malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources
Aliases & Descriptions for Waardenburg Syndrome, Type 4a:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases, Skin diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
OMIM:51 Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome... (277580) more...
MalaCards based summary: Waardenburg Syndrome, Type 4a, also known as waardenburg syndrome, is related to hirschsprung disease 1 and waardenburg syndrome, type 1, and has symptoms including conductive hearing impairment, prominent nasal bridge and synophrys. An important gene associated with Waardenburg Syndrome, Type 4a is EDNRB (Endothelin Receptor Type B), and among its related pathways are Melanocyte Development and Pigmentation and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, eye and uterus, and related mouse phenotypes are hearing/vestibular/ear and muscle.
Disease Ontology:11 An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Genetics Home Reference:25 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
UniProtKB/Swiss-Prot:69 Waardenburg syndrome 4A: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
Wikipedia:70 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...
Human phenotypes related to Waardenburg Syndrome, Type 4a:63 53 (show all 42)
UMLS symptoms related to Waardenburg Syndrome, Type 4a:achromia of skin
MalaCards organs/tissues related to Waardenburg Syndrome, Type 4a:35
Skin, Eye, Uterus, Colon
MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 4a:40 (show all 22)
UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 4a:69
Clinvar genetic disease variations for Waardenburg Syndrome, Type 4a:5 (show all 13)
Search GEO for disease gene expression data for Waardenburg Syndrome, Type 4a.
Pathways related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:
Cellular components related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:
Biological processes related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:(show all 17)
Molecular functions related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet