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Oculocutaneous albinism type 6(OCA6)

MedGen UID:
811705
•Concept ID:
C3805375
•
Disease or Syndrome
Synonyms: Albinism, oculocutaneous, type VI; OCA6
SNOMED CT: Oculocutaneous albinism type 6 (722058005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SLC24A5 (15q21.1)
 
Monarch Initiative: MONDO:0018264
OMIM®: 113750
Orphanet: ORPHA370097

Definition

Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by Wei et al., 2013). For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 (227220). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
•Concept ID:
C0085636
•
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
See: Feature record | Search on this feature
Fair hair
MedGen UID:
336542
•Concept ID:
C1849221
•
Finding
A lesser degree of hair pigmentation than would otherwise be expected.
See: Feature record | Search on this feature
Generalized hypopigmentation
MedGen UID:
340426
•Concept ID:
C1849923
•
Finding
See: Feature record | Search on this feature
Nystagmus
MedGen UID:
45166
•Concept ID:
C0028738
•
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Foveal hypoplasia
MedGen UID:
393047
•Concept ID:
C2673946
•
Finding
Underdevelopment of the fovea centralis.
See: Feature record | Search on this feature
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculocutaneous albinism type 6

Professional guidelines

PubMed

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.
Yousaf S, Sethna S, Chaudhary MA, Shaikh RS, Riazuddin S, Ahmed ZM
Pigment Cell Melanoma Res 2020 Jul;33(4):556-565. Epub 2020 Apr 27 doi: 10.1111/pcmr.12879. PMID: 32274888Free PMC Article
Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.
Hongyi L, Haiyun W, Hui Z, Qing W, Honglei D, Shu M, Weiying J
Prenat Diagn 2007 Jun;27(6):502-6. doi: 10.1002/pd.1713. PMID: 17385796
Congenital neutropenia: advances in diagnosis and treatment.
Badolato R, Fontana S, Notarangelo LD, Savoldi G
Curr Opin Allergy Clin Immunol 2004 Dec;4(6):513-21. doi: 10.1097/00130832-200412000-00007. PMID: 15640692

Recent clinical studies

Diagnosis

Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.
Zhang Y, Zhang Y, Liu T, Bai D, Yang X, Li W, Wei A
J Dermatol 2019 Nov;46(11):1027-1030. Epub 2019 Sep 4 doi: 10.1111/1346-8138.15065. PMID: 31486119

Prognosis

Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.
Zhang Y, Zhang Y, Liu T, Bai D, Yang X, Li W, Wei A
J Dermatol 2019 Nov;46(11):1027-1030. Epub 2019 Sep 4 doi: 10.1111/1346-8138.15065. PMID: 31486119
In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for oculocutaneous albinism type 6 (OCA 6) disorder.
Kumar R, Bansal A, Shukla R, Raj Singh T, Wasudeo Ramteke P, Singh S, Gautam B
J Biomol Struct Dyn 2019 Aug;37(13):3513-3523. Epub 2018 Dec 5 doi: 10.1080/07391102.2018.1520649. PMID: 30204049

Clinical prediction guides

Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.
Zhang Y, Zhang Y, Liu T, Bai D, Yang X, Li W, Wei A
J Dermatol 2019 Nov;46(11):1027-1030. Epub 2019 Sep 4 doi: 10.1111/1346-8138.15065. PMID: 31486119
In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for oculocutaneous albinism type 6 (OCA 6) disorder.
Kumar R, Bansal A, Shukla R, Raj Singh T, Wasudeo Ramteke P, Singh S, Gautam B
J Biomol Struct Dyn 2019 Aug;37(13):3513-3523. Epub 2018 Dec 5 doi: 10.1080/07391102.2018.1520649. PMID: 30204049

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