Tietz syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TIETZ ALBINISM-DEAFNESS SYNDROME
HYPOPIGMENTATION/DEAFNESS OF TIETZ
ALBINISM-DEAFNESS OF TIETZ
Hypopigmentation-deafness syndrome
Number of Symptoms 18
OrphanetNr: 42665
OMIM Id: 103500
ICD-10:
UMLs: C0391816
MeSH: C536919
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hypopigmentation of the skin
 -Rare genetic disease
Hypopigmentation of the skin
 -Rare skin disease
Pigmentation disorder with eye involvement, excluding albinism
 -Rare eye disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002226) White eyebrow 10 / 7739
2
 (HPO:0002227) White eyelashes 11 / 7739
3
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
4
 (HPO:0000635) Blue irides 25 / 7739
5
 (HPO:0000593) Abnormality of the anterior chamber Very frequent [Orphanet] 15 / 7739
6
 (HPO:0007894) Hypopigmentation of the fundus 14 / 7739
7
 (HPO:0001487) Hypopigmented fundi 4 / 7739
8
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
9
 (HPO:0008619) Bilateral sensorineural hearing impairment 23 / 7739
10
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
11
 (HPO:0007513) Generalized hypopigmentation 12 / 7739
12
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
13
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739
14
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
15
 (OMIM) White-blonde hair 1 / 7739
16
 (OMIM) No heterochromia irides 1 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Bilateral congenital profound sensorineural hearing loss 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tietz (1963) described 14 persons in 6 generations with albinism and complete nerve deafness. The albinism was generalized but did not affect the eyes. The irides were blue. Nystagmus and other ocular abnormalities were absent. The medial canthi ...
Molecular genetics OMIM In a family with partial albinism and sensorineural deafness, Tassabehji et al. (1995) identified an in-frame 3-bp deletion in the MITF gene (delR217; 156845.0003). Izumi et al. (2008) identified the delR217 mutation in a 24-year-old woman. The authors ...