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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessAlbinism, ocular/oculocutaneous; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for ocular/oculocutaeous albinism comprising 20 guideline-curated genes and altogether 30 curated genes according to the clinical signs

ID
AP0390
Number of genes
27 Accredited laboratory test
Examined sequence length
32,0 kb (Core-/Core-canditate-Genes)
59,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
AP3B13138AR
AP3D13648AR
BLOC1S3609AR
BLOC1S6519AR
DTNBP1813AR
GPR1431215XL
HPS12103AR
HPS33015AR
HPS42127AR
HPS53048AR
HPS62328AR
LRMDA597AR
OCA22517AR
SLC24A51503AR
SLC45A21593AR
TYR1590AR
TYRP11614AR
ASIP399Ass
IRF41356Ass
LYST11406AR
MC1R954AR
MITF1260AD
MYO5A5568AR
RAB27A666AR
SLC24A41869AR
SLC38A81308AR
TPCN22259Ass

Informations about the disease

Clinical Comment

Oculocutaneous albinism is a group of disorders that affect the pigmentation of the skin, hair and eyes. Long-term sun exposure increases the risk of skin damage and skin cancer, including malignant melanoma. Reduced pigmentation of the iris and retina leads to decreased visual acuity, nystagmus and photophobia. The most common forms of albinism are inherited in an autosomal recessive manner. The diagnostic yield captures the genetic forms in approximately 50% of the patients. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis is excluded. Even in the corresponding absence of syndromologic signs, Hermansky-Pudlak, Chediak-Higashi and Griscelli syndrome types 1 and 2 should not be disregarded in the differential diagnosis of ocular/oculocutaneous albinism.

References: https://www.ncbi.nlm.nih.gov/books/NBK1166/

https://www.ncbi.nlm.nih.gov/books/NBK1232/

https://www.ncbi.nlm.nih.gov/books/NBK1343/

https://www.ncbi.nlm.nih.gov/books/NBK1510/

https://www.ncbi.nlm.nih.gov/books/NBK1287/

 

Synonyms
  • Alias: Ocular albinism
  • Alias: Ocular cutaneous albinism, OCA
  • Alleilic: Skin/hair/eye pigmentation 3, blue/green eyes (TYR)
  • Allelic: Amelogenesis imperfecta, type IIA5 (SLC24A4)
  • Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
  • Allelic: COMMAD [Coloboma, Osteopetr., Microphth., Macroceph., Albinism, Deafness] syndrome (MITF)
  • Allelic: Deafness, AD 69, unilateral or asymmetric (KITLG)
  • Allelic: Foveal hypoplasia 2, +/- optic nerve misrouting +/- anterior segment dysgenesis (SLC38A8)
  • Allelic: Hyperpigmentation with/-out hypopigmentation (KITLG)
  • Allelic: Melanoma, cutaneous malignant, 5 (MC1R)
  • Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
  • Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (TYR)
  • Allelic: Nystagmus 6, congenital, XL (GPR143)
  • Allelic: Skin/hair/eye pigmentation, variation in, 8 (IRF4)
  • Allelic: UV-induced skin damage
  • Albinism, brown oculocutaneous (OCA2)
  • Albinism, oculocutaneous, type IA (TYR)
  • Albinism, oculocutaneous, type IB (TYR)
  • Albinism, oculocutaneous, type II (OCA2)
  • Albinism, oculocutaneous, type II, modifier of (MC1R)
  • Albinism, oculocutaneous, type III (TYRP1)
  • Albinism, oculocutaneous, type IV (SLV45A2)
  • Albinism, oculocutaneous, type VI (SLC24A5)
  • Albinism, oculocutaneous, type VII (LRMDA)
  • Albinism, oculocutaneous, type VIII (DCT)
  • Blaschko-linear hypopigmentation (KITLG)
  • Chediak-Higashi syndrome (LYST)
  • Griscelli syndrome, type 1 + 2 (MYO5A + RAB27A)
  • Hermansky-Pudlak syndrome 1-6 (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6)
  • Hermansky-Pudlak syndrome 7-11 (DTNBP1, BLOC1S3, BLOC1S6, AP3D1, BLOC1S5)
  • Ocular albinism, type I, Nettleship-Falls type (GPR143)
  • Oculocutaneous albinism, type VIII (DCT)
  • Progressive hyper-+ hypopigmentation (KITLG)
  • Skin/hair/eye pigment., blond/fair skin; Skin/hair/eye pigment., red hair/fair skin (MC1R)
  • Skin/hair/eye pigmentation 1, blond/brown hair (OCA2)
  • Skin/hair/eye pigmentation 1, blue/nonblue eyes (OCA2)
  • Skin/hair/eye pigmentation 10, blond/brown hair (TPCN2)
  • Skin/hair/eye pigmentation 10, blond/brown hair (TPCN2)
  • Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
  • Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
  • Skin/hair/eye pigmentation 3, light/dark/freckling skin (TYR)
  • Skin/hair/eye pigmentation 4, fair/dark skin (SLC24A5)
  • Skin/hair/eye pigmentation 5, black/nonblack hair (SLC45A2)
  • Skin/hair/eye pigmentation 5, dark/fair skin (SLC45A2)
  • Skin/hair/eye pigmentation 5, dark/light eyes (SLC45A2)
  • Skin/hair/eye pigmentation 6, blond/brown hair (SLC24A4)
  • Skin/hair/eye pigmentation 6, blue/green eyes (SLC24A4)
  • Skin/hair/eye pigmentation 7, blond/brown hair (KITLG)
  • Skin/hair/eye pigmentation 9, brown/nonbrown eyes (ASIP)
  • Skin/hair/eye pigmentation 9, dark/light hair (ASIP)
  • Skin/hair/eye pigmentation, blond/brown hair, blue/green eyes (SLC24A4)
  • Skin/hair/eye pigmentation, variation in, 11 [Melanesian blond hair] (TYRP1)
  • Skin/hair/eye pigmentation, variation in, 8 (IRF4)
  • Tietz albinism-deafness syndrome (MITF)
  • Vici syndrome (MYO5A)
  • Waardenburg syndrome, type 2A (MITF)
  • Waardenburg syndrome/albinism, digenic (TYR)
  • Waardenburg syndrome/ocular albinism digenic (MITF)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E70.3

Bioinformatics and clinical interpretation

No text defined