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Results: 1 to 20 of 60

1.

Waardenburg's syndrome

A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. [from NCI]

MedGen UID:
473809
Concept ID:
C3266898
Congenital Abnormality
2.

Waardenburg syndrome type 2

A rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum. [from NCI]

MedGen UID:
398443
Concept ID:
C2700265
Disease or Syndrome
3.

Albinism

General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. [from MeSH]

MedGen UID:
182
Concept ID:
C0001916
Congenital Abnormality
4.

Waardenburg syndrome

Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. [from ORDO]

MedGen UID:
799073
Concept ID:
CN204428
Disease or Syndrome
5.

Autosomal recessive ocular albinism

MedGen UID:
541337
Concept ID:
C0268503
Disease or Syndrome
6.

Ocular albinism

An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. [from HPO]

MedGen UID:
504729
Concept ID:
CN001040
Finding
7.

Albinism

An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). [from HPO]

MedGen UID:
504689
Concept ID:
CN000958
Finding
8.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
9.

Error occurred: cannot get document summary

ID:
468420

10.

Digenic inheritance

A type of multifactorial inheritance governed by the simultaneous action of two gene loci. [from HPO]

MedGen UID:
451260
Concept ID:
CN116717
11.

Waardenburg syndrome type 1

Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs. [from GeneReviews]

MedGen UID:
376211
Concept ID:
C1847800
Disease or Syndrome
12.

Waardenburg syndrome type 2A

Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Waardenburg syndrome type 2A is caused by mutation in the MITF gene (156845). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 2 Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (600193) has been mapped to chromosome 1p, WS2C (606662) has been mapped to chromosome 8p23, WSD (608890) is caused by mutation in the SNAI2 gene (602150) on chromosome 8q11, and WS2E (611584) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13. [from OMIM]

MedGen UID:
349786
Concept ID:
C1860339
Disease or Syndrome
13.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
14.

Ocular albinism

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. [from MeSH]

MedGen UID:
38147
Concept ID:
C0078917
Congenital Abnormality
15.

Waardenburg's syndrome

MedGen UID:
21896
Concept ID:
C0043008
Disease or Syndrome
16.

Complete deafness

Total inability to hear sounds in one or both ears. [from NCI]

MedGen UID:
108418
Concept ID:
C0581883
Finding
17.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
18.

Deafness

A general term for the complete loss of the ability to hear from both ears. [from MeSH]

MedGen UID:
4155
Concept ID:
C0011053
Finding
19.

Waardenburg-Shah syndrome

MedGen UID:
799141
Concept ID:
CN206330
Disease or Syndrome
20.

Klein-Waardenberg's syndrome

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). [from OMIM]

MedGen UID:
449531
Concept ID:
C0342680
Disease or Syndrome

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