TADS
MCID: TTZ003
MIFTS: 45

Tietz Albinism-Deafness Syndrome (TADS)

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

Aliases & Classifications for Tietz Albinism-Deafness Syndrome

MalaCards integrated aliases for Tietz Albinism-Deafness Syndrome:

Name: Tietz Albinism-Deafness Syndrome 58 12 54 26 76 13 41
Tietz Syndrome 58 12 77 54 26 60 76 38 30 56 6 15 74
Hypopigmentation/deafness of Tietz 58 12 54 26 76
Albinism-Deafness of Tietz 58 12 54 26 76
Tietze's Syndrome 12 54 45 15 74
Hypopigmentation-Deafness Syndrome 26 60
Costochondral Junction Syndrome 12 54
Costochondritis 12 77
Tietze Syndrome 12 54
Tads 58 76
Abnormality of the Costochondral Junction 6
Albinism and Complete Nerve Deafness 26
Chondropathia Tuberosa 54
Slipping Rib Syndrome 12
Costal Chondritis 77
Costalchondritis 12
Tietze's Disease 12
Tietz's Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
tietz syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to waardenburg syndrome, type iia


HPO:

33
tietz albinism-deafness syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090002 DOID:14021
OMIM 58 103500
KEGG 38 H01187
ICD9CM 36 733.6
ICD10 34 M94.0
MESH via Orphanet 46 C536919
UMLS via Orphanet 75 C0391816
Orphanet 60 ORPHA42665
MedGen 43 C0391816

Summaries for Tietz Albinism-Deafness Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Tietz Albinism-Deafness Syndrome, also known as tietz syndrome, is related to albinism and waardenburg syndrome, type 2e. An important gene associated with Tietz Albinism-Deafness Syndrome is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways are Osteoclast differentiation and Melanogenesis. Affiliated tissues include skin, eye and thyroid, and related phenotypes are hearing impairment and hypopigmentation of hair

Disease Ontology : 12 A syndrome 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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 Tietz albinism-deafness syndrome: An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.

Wikipedia : 77 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 94)
# Related Disease Score Top Affiliating Genes
1 albinism 30.3 MITF TYR
2 waardenburg syndrome, type 2e 30.1 MITF SOX10
3 microphthalmia 29.7 MITF PAX3 TYR
4 waardenburg's syndrome 28.5 EDN3 MITF PAX3 SOX10 TYR
5 achondrogenesis, type ii 11.1
6 grover's disease 11.1
7 ankylosis 10.5
8 hemifacial microsomia 10.3
9 depression 10.3
10 lymphoma 10.2
11 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 10.2
12 craniofacial microsomia 10.1
13 microtia 10.1
14 albinism, ocular, with sensorineural deafness 10.1 MITF TYR
15 pigmented basal cell carcinoma 10.1 MITF TYR
16 hypomelanosis of ito 10.1 MITF TYR
17 epithelioid cell melanoma 10.1 MITF TYR
18 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 MITF TYR
19 childhood kidney cell carcinoma 10.1 MITF PAX3
20 dowling-degos disease 1 10.1 MITF TYR
21 hermansky-pudlak syndrome 3 10.1 MITF TYR
22 albinism, oculocutaneous, type iv 10.1 MITF TYR
23 palatopharyngeal incompetence 10.0
24 thoracic outlet syndrome 10.0
25 gigantism 10.0
26 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 MITF TYR
27 albinism-deafness syndrome 10.0
28 patulous eustachian tube 10.0
29 autoimmune disease 10.0
30 multiple sclerosis 10.0
31 anxiety 10.0
32 intraocular pressure quantitative trait locus 10.0
33 thrombocytopenia 10.0
34 stuttering 10.0
35 root resorption 10.0
36 rapidly involuting congenital hemangioma 10.0
37 angiomyolipoma 10.0 MITF TYR
38 ocular albinism 10.0 MITF TYR
39 asthma 10.0
40 orthostatic intolerance 10.0
41 arthritis 10.0
42 hemangioma 10.0
43 osteochondritis dissecans 10.0
44 osteochondrosis 10.0
45 malignant hemangioma 10.0
46 cat-scratch disease 10.0
47 cervical adenitis 10.0
48 mitral valve prolapse, familial, x-linked 10.0
49 pustulosis palmaris et plantaris 10.0
50 neurofibroma 9.9 MITF SOX10

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

Human phenotypes related to Tietz Albinism-Deafness Syndrome:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
2 hypopigmentation of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0005599
3 white eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002226
4 hypopigmentation of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001010
5 abnormal anterior chamber morphology 33 hallmark (90%) HP:0000593
6 blue irides 33 HP:0000635
7 generalized hypopigmentation 33 HP:0007513
8 hypopigmentation of the fundus 33 HP:0007894
9 abnormality of skin pigmentation 60 Very frequent (99-80%)
10 white eyelashes 33 HP:0002227
11 congenital sensorineural hearing impairment 33 HP:0008527
12 abnormality of the anterior chamber 60 Very frequent (99-80%)
13 bilateral sensorineural hearing impairment 33 HP:0008619

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
white eyelashes
white eyebrows
blue eyes
no heterochromia iridis
hypopigmented fundi

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

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

Skin Nails Hair Skin:
fair skin

Clinical features from OMIM:

103500

MGI Mouse Phenotypes related to Tietz Albinism-Deafness Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 EDN3 MITF PAX3 SOX10 TYR
2 embryo MP:0005380 9.77 EDN3 MITF PAX3 SOX10 TYR
3 integument MP:0010771 9.72 EDN3 MITF PAX3 SOX10 TYR
4 limbs/digits/tail MP:0005371 9.56 MITF PAX3 SOX10 TYR
5 nervous system MP:0003631 9.55 EDN3 MITF PAX3 SOX10 TYR
6 no phenotypic analysis MP:0003012 9.26 MITF PAX3 SOX10 TYR
7 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 30 MITF

Anatomical Context for Tietz Albinism-Deafness Syndrome

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

42
Skin, Eye, Thyroid, Kidney, Colon

Publications for Tietz Albinism-Deafness Syndrome

Articles related to Tietz Albinism-Deafness Syndrome:

# Title Authors Year
1
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. ( 27889061 )
2016
2
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. ( 23020089 )
2013
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
7
The mutational spectrum in Waardenburg syndrome. ( 8589691 )
1995
8
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. ( 13985019 )
1963

Variations for Tietz Albinism-Deafness Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 MITF p.Asn317Lys VAR_010298 rs104893745

ClinVar genetic disease variations for Tietz Albinism-Deafness Syndrome:

6 (show top 50) (show all 121)
# Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh37 Chromosome 3, 69986984: 69986984
2 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh38 Chromosome 3, 69937833: 69937833
3 MITF NM_000248.3(MITF): c.559+9C> G single nucleotide variant Benign/Likely benign rs181810413 GRCh37 Chromosome 3, 69998328: 69998328
4 MITF NM_000248.3(MITF): c.559+9C> G single nucleotide variant Benign/Likely benign rs181810413 GRCh38 Chromosome 3, 69949177: 69949177
5 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 GRCh37 Chromosome 3, 70014000: 70014000
6 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 GRCh38 Chromosome 3, 69964849: 69964849
7 MITF NM_000248.3(MITF): c.1245G> A (p.Thr415=) single nucleotide variant Benign/Likely benign rs36118030 GRCh37 Chromosome 3, 70014384: 70014384
8 MITF NM_000248.3(MITF): c.1245G> A (p.Thr415=) single nucleotide variant Benign/Likely benign rs36118030 GRCh38 Chromosome 3, 69965233: 69965233
9 46;XY;t(10;17)(p13;q23)dn Translocation Uncertain significance
10 MITF NM_000248.3(MITF): c.*1248T> C single nucleotide variant Likely benign rs2131025 GRCh38 Chromosome 3, 69966496: 69966496
11 MITF NM_000248.3(MITF): c.*574_*576dupAAA duplication Uncertain significance rs59665466 GRCh37 Chromosome 3, 70014973: 70014975
12 MITF NM_000248.3(MITF): c.*574_*576dupAAA duplication Uncertain significance rs59665466 GRCh38 Chromosome 3, 69965822: 69965824
13 MITF NM_000248.3(MITF): c.*423_*426delAAGA deletion Uncertain significance rs886058811 GRCh37 Chromosome 3, 70014822: 70014825
14 MITF NM_000248.3(MITF): c.*423_*426delAAGA deletion Uncertain significance rs886058811 GRCh38 Chromosome 3, 69965671: 69965674
15 MITF NM_000248.3(MITF): c.*413_*416delAAAA deletion Uncertain significance rs886058810 GRCh37 Chromosome 3, 70014812: 70014815
16 MITF NM_000248.3(MITF): c.*413_*416delAAAA deletion Uncertain significance rs886058810 GRCh38 Chromosome 3, 69965661: 69965664
17 MITF NM_000248.3(MITF): c.*286G> A single nucleotide variant Uncertain significance rs187361634 GRCh37 Chromosome 3, 70014685: 70014685
18 MITF NM_000248.3(MITF): c.*286G> A single nucleotide variant Uncertain significance rs187361634 GRCh38 Chromosome 3, 69965534: 69965534
19 MITF NM_000248.3(MITF): c.323A> T (p.His108Leu) single nucleotide variant Uncertain significance rs761038653 GRCh37 Chromosome 3, 69988310: 69988310
20 MITF NM_000248.3(MITF): c.323A> T (p.His108Leu) single nucleotide variant Uncertain significance rs761038653 GRCh38 Chromosome 3, 69939159: 69939159
21 MITF NM_000248.3(MITF): c.-36G> A single nucleotide variant Benign/Likely benign rs77588960 GRCh37 Chromosome 3, 69985838: 69985838
22 MITF NM_000248.3(MITF): c.-36G> A single nucleotide variant Benign/Likely benign rs77588960 GRCh38 Chromosome 3, 69936687: 69936687
23 MITF NM_000248.3(MITF): c.*3033A> G single nucleotide variant Likely benign rs139770177 GRCh37 Chromosome 3, 70017432: 70017432
24 MITF NM_000248.3(MITF): c.*3033A> G single nucleotide variant Likely benign rs139770177 GRCh38 Chromosome 3, 69968281: 69968281
25 MITF NM_000248.3(MITF): c.*2868T> C single nucleotide variant Likely benign rs529623175 GRCh37 Chromosome 3, 70017267: 70017267
26 MITF NM_000248.3(MITF): c.*2868T> C single nucleotide variant Likely benign rs529623175 GRCh38 Chromosome 3, 69968116: 69968116
27 MITF NM_000248.3(MITF): c.*2077G> T single nucleotide variant Uncertain significance rs886058816 GRCh37 Chromosome 3, 70016476: 70016476
28 MITF NM_000248.3(MITF): c.*2077G> T single nucleotide variant Uncertain significance rs886058816 GRCh38 Chromosome 3, 69967325: 69967325
29 MITF NM_000248.3(MITF): c.*1933C> T single nucleotide variant Uncertain significance rs555688827 GRCh37 Chromosome 3, 70016332: 70016332
30 MITF NM_000248.3(MITF): c.*1933C> T single nucleotide variant Uncertain significance rs555688827 GRCh38 Chromosome 3, 69967181: 69967181
31 MITF NM_000248.3(MITF): c.*1491A> G single nucleotide variant Likely benign rs80212793 GRCh37 Chromosome 3, 70015890: 70015890
32 MITF NM_000248.3(MITF): c.*1491A> G single nucleotide variant Likely benign rs80212793 GRCh38 Chromosome 3, 69966739: 69966739
33 MITF NM_000248.3(MITF): c.*421G> T single nucleotide variant Uncertain significance rs886058812 GRCh37 Chromosome 3, 70014820: 70014820
34 MITF NM_000248.3(MITF): c.*421G> T single nucleotide variant Uncertain significance rs886058812 GRCh38 Chromosome 3, 69965669: 69965669
35 MITF NM_000248.3(MITF): c.*228C> T single nucleotide variant Likely benign rs190540926 GRCh37 Chromosome 3, 70014627: 70014627
36 MITF NM_000248.3(MITF): c.*228C> T single nucleotide variant Likely benign rs190540926 GRCh38 Chromosome 3, 69965476: 69965476
37 MITF NM_000248.3(MITF): c.938G> A (p.Arg313Gln) single nucleotide variant Uncertain significance rs201351378 GRCh37 Chromosome 3, 70014077: 70014077
38 MITF NM_000248.3(MITF): c.938G> A (p.Arg313Gln) single nucleotide variant Uncertain significance rs201351378 GRCh38 Chromosome 3, 69964926: 69964926
39 MITF NM_000248.3(MITF): c.901C> G (p.Pro301Ala) single nucleotide variant Likely benign rs199992377 GRCh37 Chromosome 3, 70014040: 70014040
40 MITF NM_000248.3(MITF): c.901C> G (p.Pro301Ala) single nucleotide variant Likely benign rs199992377 GRCh38 Chromosome 3, 69964889: 69964889
41 MITF NM_000248.3(MITF): c.*2753T> C single nucleotide variant Uncertain significance rs886058819 GRCh37 Chromosome 3, 70017152: 70017152
42 MITF NM_000248.3(MITF): c.*2753T> C single nucleotide variant Uncertain significance rs886058819 GRCh38 Chromosome 3, 69968001: 69968001
43 MITF NM_000248.3(MITF): c.*2160delA deletion Uncertain significance rs565618309 GRCh37 Chromosome 3, 70016559: 70016559
44 MITF NM_000248.3(MITF): c.*2160delA deletion Uncertain significance rs565618309 GRCh38 Chromosome 3, 69967408: 69967408
45 MITF NM_000248.3(MITF): c.*2079A> C single nucleotide variant Uncertain significance rs886058817 GRCh37 Chromosome 3, 70016478: 70016478
46 MITF NM_000248.3(MITF): c.*2079A> C single nucleotide variant Uncertain significance rs886058817 GRCh38 Chromosome 3, 69967327: 69967327
47 MITF NM_000248.3(MITF): c.*1934G> T single nucleotide variant Uncertain significance rs572298352 GRCh37 Chromosome 3, 70016333: 70016333
48 MITF NM_000248.3(MITF): c.*1934G> T single nucleotide variant Uncertain significance rs572298352 GRCh38 Chromosome 3, 69967182: 69967182
49 MITF NM_000248.3(MITF): c.*1869G> T single nucleotide variant Uncertain significance rs886058814 GRCh37 Chromosome 3, 70016268: 70016268
50 MITF NM_000248.3(MITF): c.*1869G> T single nucleotide variant Uncertain significance rs886058814 GRCh38 Chromosome 3, 69967117: 69967117

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:

38
# 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 9.43 MITF PAX3 SOX10
2 neural crest cell migration GO:0001755 9.16 EDN3 SOX10
3 pigmentation GO:0043473 8.96 MITF TYR
4 melanocyte differentiation GO:0030318 8.8 EDN3 MITF SOX10

Sources for Tietz Albinism-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....