Ocular albinism with congenital sensorineural deafness

General Information (adopted from Orphanet):

Synonyms, Signs: WS2-OA
WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE
Waardenburg syndrome type 2 with ocular albinism
Number of Symptoms 19
OrphanetNr: 352740
OMIM Id: 103470
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Multifactorial
X-linked
Autosomal dominant
9158138 [IBIS]
Age of onset: Neonatal
Infancy
9158138 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Ocular albinism
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001107) Ocular albinism 9158138 IBIS 40 / 7739
2
 (HPO:0000639) Nystagmus 9158138 IBIS 555 / 7739
3
 (HPO:0007750) Hypoplasia of the fovea 9158138 IBIS 11 / 7739
4
 (HPO:0000486) Strabismus 9158138 IBIS 576 / 7739
5
 (HPO:0007663) Reduced visual acuity 9158138 IBIS 100 / 7739
6
 (HPO:0000613) Photophobia 9158138 IBIS 158 / 7739
7
 (HPO:0001093) Optic nerve dysplasia 9158138 IBIS 6 / 7739
8
 (HPO:0000505) Visual impairment 9158138 IBIS 297 / 7739
9
 (HPO:0000540) Hypermetropia 9158138 IBIS 99 / 7739
10
 (HPO:0000407) Sensorineural hearing impairment 9158138 IBIS 524 / 7739
11
 (HPO:0000365) Hearing impairment 9158138 IBIS 539 / 7739
12
 (HPO:0001756) Vestibular hypofunction 9158138 IBIS 3 / 7739
13
 (HPO:0005592) Giant melanosomes in melanocytes 9158138 IBIS 4 / 7739
14
 (HPO:0001003) Multiple lentigines 9158138 IBIS 11 / 7739
15
 (HPO:0001010) Hypopigmentation of the skin 9158138 IBIS 46 / 7739
16
 (OMIM) Hypomelanosis 9158138 IBIS 2 / 7739
17
 (OMIM) Translucent irides 9158138 IBIS 3 / 7739
18
 (OMIM) Albinotic fundus 9158138 IBIS 2 / 7739
19
 (OMIM) Lentigines 9158138 IBIS 3 / 7739

Associated genes:

MITF;TYR;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lewis (1978) found 7 affected males and 5 affected females in 3 consecutive generations of a Caucasian kindred. As in the X-linked Nettleship-Falls form of ocular albinism (300500), the patients showed reduced visual acuity, photophobia, nystagmus, translucent irides, ...
Molecular genetics OMIM Studying the family reported by Bard (1978), Morell et al. (1997) demonstrated apparent digenic inheritance resulting from a combination of heterozygosity for a 1-bp deletion in exon 8 of the MITF gene (156845.0005) and homozygosity or heterozygosity for ...