Yemenite deaf-blind hypopigmentation syndrome | |
---|---|
Other names | Warburg-Thomsen syndrome [1] |
Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10 [2] (not SOX10). [3]
It was characterized in 1990, [4] after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation." [1] Some sources affirm SOX10 involvement. [5] [6]
Treacle protein is a protein that in humans is encoded by the TCOF1 gene.
The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).
Neuronal migration protein doublecortin, also known as doublin or lissencephalin-X is a protein that in humans is encoded by the DCX gene.
Wolframin is a protein that in humans is encoded by the WFS1 gene.
Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the SNRPN gene.
Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.
Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.
Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene.
Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.
Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.
Mesoderm-specific transcript homolog protein is a protein that in humans is encoded by the MEST gene.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.
Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.
Carbohydrate-responsive element-binding protein (ChREBP) also known as MLX-interacting protein-like (MLXIPL) is a protein that in humans is encoded by the MLXIPL gene. The protein name derives from the protein's interaction with carbohydrate response element sequences of DNA.
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
Lathosterolosis is a defect in cholesterol biosynthesis.
Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation.
Classification |
---|
This cutaneous condition article is a stub. You can help Wikipedia by expanding it. |