MCID: TTZ003
MIFTS: 44

Tietz Albinism-Deafness Syndrome

Categories: Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Bone diseases

Aliases & Classifications for Tietz Albinism-Deafness Syndrome

MalaCards integrated aliases for Tietz Albinism-Deafness Syndrome:

Name: Tietz Albinism-Deafness Syndrome 53 12 49 24 71 13
Tietz Syndrome 53 12 72 49 24 55 71 36 28 51 14 69
Hypopigmentation/deafness of Tietz 53 12 49 24 71
Albinism-Deafness of Tietz 53 12 49 24 71
Tietze's Syndrome 12 49 41 14 69
Hypopigmentation-Deafness Syndrome 24 55
Costochondral Junction Syndrome 12 49
Costochondritis 12 72
Tietze Syndrome 12 49
Tads 53 71
Albinism and Complete Nerve Deafness 24
Chondropathia Tuberosa 49
Slipping Rib Syndrome 12
Costal Chondritis 72
Costalchondritis 12
Tietze's Disease 12
Tietz's Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
tietz syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to waardenburg syndrome, type iia


HPO:

31
tietz albinism-deafness syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 103500
Disease Ontology 12 DOID:0090002 DOID:14021
ICD10 32 M94.0
ICD9CM 34 733.6
Orphanet 55 ORPHA42665
MESH via Orphanet 42 C536919
UMLS via Orphanet 70 C0391816
MedGen 39 C0391816
KEGG 36 H01187

Summaries for Tietz Albinism-Deafness Syndrome

NIH Rare Diseases : 49 Tietz syndrome is a rare condition characterized by hearing loss, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. People with Tietz syndrome are born with white hair and very pale skin but their hair color often darkens over time; The colored part of the eye (the iris) is blue. It is caused by changes (mutations) in the MITF gene which affects the development of melanocytes. The inheritance is autosomal dominant. The goal of treatment is to improve hearing; cochlear implantation may be considered. Last updated: 11/19/2014

MalaCards based summary : Tietz Albinism-Deafness Syndrome, also known as tietz syndrome, is related to waardenburg syndrome, type 2e and albinism, and has symptoms including blue irides, generalized hypopigmentation and hypopigmentation of the fundus. An important gene associated with Tietz Albinism-Deafness Syndrome is MITF (Melanogenesis Associated Transcription Factor), and among its related pathways/superpathways are Osteoclast differentiation and Melanogenesis. Affiliated tissues include skin, eye and bone, and related phenotypes are behavior/neurological and embryo

UniProtKB/Swiss-Prot : 71 Tietz albinism-deafness syndrome: An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.

Genetics Home Reference : 24 Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family.

Disease Ontology : 12 An monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on chromosome 3p13.

Wikipedia : 72 Costochondritis, also known as chest wall pain, costosternal syndrome, or costosternal chondrodynia is... more...

Description from OMIM: 103500

Related Diseases for Tietz Albinism-Deafness Syndrome

Diseases related to Tietz Albinism-Deafness Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 2e 29.8 MITF SOX10
2 albinism 29.3 MITF TYR
3 microphthalmia 29.0 MITF PAX3 TYR
4 achondrogenesis, type ii 10.9
5 grover's disease 10.9
6 ankylosis 10.4
7 childhood kidney cell carcinoma 10.1 MITF PAX3
8 piebald trait 10.1 MITF PAX3
9 craniofacial microsomia 10.1
10 relapsing polychondritis 10.0
11 neurofibroma 10.0 MITF SOX10
12 small cell sarcoma 10.0 PAX3 SOX10
13 root resorption 10.0
14 colonic disease 10.0 EDN3 SOX10
15 skin/hair/eye pigmentation, variation in, 3 9.9 MITF TYR
16 albinism, ocular, with sensorineural deafness 9.9 MITF TYR
17 pigmented basal cell carcinoma 9.9 MITF TYR
18 epithelioid cell melanoma 9.9 MITF TYR
19 pigmentation disease 9.9 MITF TYR
20 branchiootic syndrome 1 9.9
21 hemifacial microsomia 9.9
22 episodic pain syndrome, familial, 1 9.9
23 gigantism 9.9
24 microtia 9.9
25 dowling-degos disease 1 9.9 MITF TYR
26 hermansky-pudlak syndrome 3 9.9 MITF TYR
27 megacolon 9.9 EDN3 SOX10
28 lentigines 9.9 MITF TYR
29 ocular albinism 9.9 MITF TYR
30 angiomyolipoma 9.9 MITF TYR
31 inner ear disease 9.8 PAX3 SOX10
32 integumentary system cancer 9.8 MITF TYR
33 dilution, pigmentary 9.8
34 albinism-deafness syndrome 9.8
35 anencephaly 9.8
36 asthma 9.8
37 arthritis 9.8
38 ameloblastoma 9.8
39 fibrous dysplasia 9.8
40 enophthalmos 9.8
41 melanotic neuroectodermal tumor 9.8
42 thoracic outlet syndrome 9.8
43 leukoplakia 9.8
44 oral leukoplakia 9.8
45 synovial chondromatosis 9.8
46 venous thoracic outlet syndrome 9.8
47 waardenburg syndrome type 4 9.7 EDN3 MITF SOX10
48 waardenburg syndrome, type 4a 9.7 EDN3 MITF SOX10
49 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7 MITF TYR
50 skin melanoma 9.7 MITF TYR

Comorbidity relations with Tietz Albinism-Deafness Syndrome via Phenotypic Disease Network (PDN):


Esophagitis Hypertension, Essential
Intermediate Coronary Syndrome Ischemic Heart Disease

Graphical network of the top 20 diseases related to Tietz Albinism-Deafness Syndrome:



Diseases related to Tietz Albinism-Deafness Syndrome

Symptoms & Phenotypes for Tietz Albinism-Deafness Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, bilateral profound congenital

Skin Nails Hair Skin:
fair skin

Head And Neck Eyes:
white eyelashes
white eyebrows
blue eyes
no heterochromia iridis
hypopigmented fundi

Skin Nails Hair Hair:
white eyelashes
white eyebrows
white-blonde hair


Clinical features from OMIM:

103500

Human phenotypes related to Tietz Albinism-Deafness Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 blue irides 31 HP:0000635
2 generalized hypopigmentation 31 HP:0007513
3 hypopigmentation of the fundus 31 HP:0007894
4 white eyebrow 31 HP:0002226
5 white eyelashes 31 HP:0002227
6 congenital sensorineural hearing impairment 31 HP:0008527
7 bilateral sensorineural hearing impairment 31 HP:0008619

MGI Mouse Phenotypes related to Tietz Albinism-Deafness Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 EDN3 MITF PAX3 SOX10 TYR
2 embryo MP:0005380 9.72 EDN3 MITF PAX3 SOX10 TYR
3 integument MP:0010771 9.65 EDN3 MITF PAX3 SOX10 TYR
4 limbs/digits/tail MP:0005371 9.46 MITF PAX3 SOX10 TYR
5 nervous system MP:0003631 9.35 EDN3 MITF PAX3 SOX10 TYR
6 pigmentation MP:0001186 9.02 EDN3 MITF PAX3 SOX10 TYR

Drugs & Therapeutics for Tietz Albinism-Deafness Syndrome

Search Clinical Trials , NIH Clinical Center for Tietz Albinism-Deafness Syndrome

Cochrane evidence based reviews: tietze's syndrome

Genetic Tests for Tietz Albinism-Deafness Syndrome

Genetic tests related to Tietz Albinism-Deafness Syndrome:

# Genetic test Affiliating Genes
1 Tietz Syndrome 28 MITF

Anatomical Context for Tietz Albinism-Deafness Syndrome

MalaCards organs/tissues related to Tietz Albinism-Deafness Syndrome:

38
Skin, Eye, Bone

Publications for Tietz Albinism-Deafness Syndrome

Articles related to Tietz Albinism-Deafness Syndrome:

# Title Authors Year
1
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. ( 23020089 )
2013
2
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. ( 22258527 )
2012
3
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. ( 20485200 )
2010
4
Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. ( 18510545 )
2008
5
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. ( 10851256 )
2000
6
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). ( 9546825 )
1998

Variations for Tietz Albinism-Deafness Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Tietz Albinism-Deafness Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 MITF p.Asn317Lys VAR_010298 rs104893745

ClinVar genetic disease variations for Tietz Albinism-Deafness Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.649_651delAGA (p.Arg217del) deletion Pathogenic GRCh37 Chromosome 3, 70005620: 70005622
2 MITF NM_198159.2(MITF): c.933C> G (p.Asn311Lys) single nucleotide variant Pathogenic rs104893745 GRCh37 Chromosome 3, 70001033: 70001033

Expression for Tietz Albinism-Deafness Syndrome

Search GEO for disease gene expression data for Tietz Albinism-Deafness Syndrome.

Pathways for Tietz Albinism-Deafness Syndrome

Pathways related to Tietz Albinism-Deafness Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380
2 Melanogenesis hsa04916

Pathways related to Tietz Albinism-Deafness Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 MITF PAX3 SOX10
2 10.9 MITF PAX3
3 10.41 MITF PAX3 SOX10

GO Terms for Tietz Albinism-Deafness Syndrome

Biological processes related to Tietz Albinism-Deafness Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.33 MITF PAX3 SOX10
2 pigmentation GO:0043473 8.96 MITF TYR
3 melanocyte differentiation GO:0030318 8.62 MITF SOX10

Molecular functions related to Tietz Albinism-Deafness Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 MITF SOX10

Sources for Tietz Albinism-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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