Version: 8.0.0
Date: Tue Jan 28 2025
11 results
Disease Genes: mitfa (Dre)

lysosomal storage disease

Disease
Source: DOID:3211
Definition: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
Genes: mitfa (Dre)

melanoma

Disease
Source: DOID:1909
Definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
Genes: mitfa (Dre)

ocular albinism with sensorineural deafness

Disease
Source: DOID:0090100
Definition: An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.
Genes: mitfa (Dre)

osteopetrosis

Disease
Source: DOID:13533
Definition: An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
Genes: mitfa (Dre)

Waardenburg syndrome

Disease
Source: DOID:9258
Definition: A syndrome 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.
Genes: mitfa (Dre)

Tietz syndrome

Disease
Source: DOID:0090002
Definition: A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.
Genes: mitfa (Dre)

Camurati-Engelmann disease

Disease
Source: DOID:4997
Definition: An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
Genes: mitfa (Dre)

familial melanoma

Disease
Source: DOID:6846
Definition: Not Available
Genes: mitfa (Dre)

Waardenburg syndrome type 1

Disease
Source: DOID:0110948
Definition: A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
Genes: mitfa (Dre)

Tietze's syndrome

Disease
Source: DOID:14021
Definition: A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain.
Genes: mitfa (Dre)

Waardenburg syndrome type 2A

Disease
Source: DOID:0110950
Definition: A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.
Genes: mitfa (Dre)