TADS
MCID: TTZ003
MIFTS: 44

Tietz Albinism-Deafness Syndrome (TADS)

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

Aliases & Classifications for Tietz Albinism-Deafness Syndrome

MalaCards integrated aliases for Tietz Albinism-Deafness Syndrome:

Name: Tietz Albinism-Deafness Syndrome 57 12 53 25 75 13 40
Tietz Syndrome 57 12 76 53 25 59 75 37 29 55 6 15 73
Hypopigmentation/deafness of Tietz 57 12 53 25 75
Albinism-Deafness of Tietz 57 12 53 25 75
Tietze's Syndrome 12 53 44 15 73
Hypopigmentation-Deafness Syndrome 25 59
Costochondral Junction Syndrome 12 53
Costochondritis 12 76
Tietze Syndrome 12 53
Tads 57 75
Abnormality of the Costochondral Junction 6
Albinism and Complete Nerve Deafness 25
Chondropathia Tuberosa 53
Slipping Rib Syndrome 12
Costal Chondritis 76
Costalchondritis 12
Tietze's Disease 12
Tietz's Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
tietz syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to waardenburg syndrome, type iia


HPO:

32
tietz albinism-deafness syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tietz Albinism-Deafness Syndrome

NIH Rare Diseases : 53 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 waardenburg syndrome, type 2e and albinism. 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 hearing impairment and hypopigmentation of the skin

UniProtKB/Swiss-Prot : 75 Tietz albinism-deafness syndrome: An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.

Genetics Home Reference : 25 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 : 76 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 57)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 2e 29.9 MITF SOX10
2 albinism 29.0 MITF TYR
3 microphthalmia 28.5 MITF PAX3 TYR
4 waardenburg's syndrome 26.6 EDN3 MITF PAX3 SOX10 TYR
5 achondrogenesis, type ii 10.9
6 grover's disease 10.9
7 ankylosis 10.4
8 childhood kidney cell carcinoma 10.2 MITF PAX3
9 piebald trait 10.1 MITF PAX3
10 craniofacial microsomia 10.1
11 relapsing polychondritis 10.0
12 neurofibroma 10.0 MITF SOX10
13 root resorption 9.9
14 depression 9.9
15 colonic disease 9.9 EDN3 SOX10
16 hemifacial microsomia 9.9
17 gigantism 9.9
18 microtia 9.9
19 cellular schwannoma 9.9 PAX3 SOX10
20 albinism, ocular, with sensorineural deafness 9.9 MITF TYR
21 pigmented basal cell carcinoma 9.9 MITF TYR
22 epithelioid cell melanoma 9.9 MITF TYR
23 pigmentation disease 9.9 MITF TYR
24 dowling-degos disease 1 9.8 MITF TYR
25 hermansky-pudlak syndrome 3 9.8 MITF TYR
26 angiomyolipoma 9.8 MITF TYR
27 albinism-deafness syndrome 9.8
28 ocular albinism 9.8 MITF TYR
29 megacolon 9.8 EDN3 SOX10
30 anencephaly 9.8
31 asthma 9.8
32 aneurysmal bone cysts 9.8
33 arthritis 9.8
34 ameloblastoma 9.8
35 fibrous dysplasia 9.8
36 enophthalmos 9.8
37 melanotic neuroectodermal tumor 9.8
38 thoracic outlet syndrome 9.8
39 leukoplakia 9.8
40 oral leukoplakia 9.8
41 synovial chondromatosis 9.8
42 aneurysm 9.8
43 venous thoracic outlet syndrome 9.8
44 integumentary system cancer 9.7 MITF TYR
45 vitiligo-associated multiple autoimmune disease susceptibility 1 9.6 MITF TYR
46 waardenburg syndrome type 4 9.6 EDN3 MITF SOX10
47 waardenburg syndrome, type 4a 9.5 EDN3 MITF SOX10
48 cell type cancer 9.5 MITF TYR
49 melanoma, uveal 9.4 MITF TYR
50 malignant spindle cell melanoma 9.2 MITF SOX10 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:

57
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

Human phenotypes related to Tietz Albinism-Deafness Syndrome:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
2 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
3 white eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002226
4 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
5 abnormality of the anterior chamber 59 Very frequent (99-80%)
6 abnormality of skin pigmentation 59 Very frequent (99-80%)
7 blue irides 32 HP:0000635
8 white eyelashes 32 HP:0002227
9 generalized hypopigmentation 32 HP:0007513
10 hypopigmentation of the fundus 32 HP:0007894
11 congenital sensorineural hearing impairment 32 HP:0008527
12 bilateral sensorineural hearing impairment 32 HP:0008619
13 abnormal anterior chamber morphology 32 hallmark (90%) HP:0000593

MGI Mouse Phenotypes related to Tietz Albinism-Deafness Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.83 SOX10 EDN3 TYR MITF PAX3
2 embryo MP:0005380 9.8 EDN3 TYR MITF PAX3 SOX10
3 integument MP:0010771 9.77 SOX10 EDN3 TYR MITF PAX3
4 nervous system MP:0003631 9.65 SOX10 EDN3 TYR MITF PAX3
5 limbs/digits/tail MP:0005371 9.62 SOX10 TYR MITF PAX3
6 no phenotypic analysis MP:0003012 9.46 SOX10 TYR MITF PAX3
7 normal MP:0002873 9.26 SOX10 TYR MITF PAX3
8 pigmentation MP:0001186 9.02 EDN3 TYR MITF PAX3 SOX10

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 29 MITF

Anatomical Context for Tietz Albinism-Deafness Syndrome

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

41
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:

75
# 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 119)
# 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_000248.3(MITF): c.649_651delAGA (p.Arg217del) deletion Pathogenic GRCh38 Chromosome 3, 69956469: 69956471
3 MITF NM_198159.2(MITF): c.933C> G (p.Asn311Lys) single nucleotide variant Pathogenic rs104893745 GRCh37 Chromosome 3, 70001033: 70001033
4 MITF NM_198159.2(MITF): c.933C> G (p.Asn311Lys) single nucleotide variant Pathogenic rs104893745 GRCh38 Chromosome 3, 69951882: 69951882
5 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant risk factor rs149617956 GRCh37 Chromosome 3, 70014091: 70014091
6 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant risk factor rs149617956 GRCh38 Chromosome 3, 69964940: 69964940
7 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh37 Chromosome 3, 69986984: 69986984
8 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh38 Chromosome 3, 69937833: 69937833
9 MITF NM_000248.3(MITF): c.559+9C> G single nucleotide variant Benign/Likely benign rs181810413 GRCh37 Chromosome 3, 69998328: 69998328
10 MITF NM_000248.3(MITF): c.559+9C> G single nucleotide variant Benign/Likely benign rs181810413 GRCh38 Chromosome 3, 69949177: 69949177
11 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 GRCh37 Chromosome 3, 70014000: 70014000
12 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 GRCh38 Chromosome 3, 69964849: 69964849
13 MITF NM_000248.3(MITF): c.1245G> A (p.Thr415=) single nucleotide variant Benign/Likely benign rs36118030 GRCh37 Chromosome 3, 70014384: 70014384
14 MITF NM_000248.3(MITF): c.1245G> A (p.Thr415=) single nucleotide variant Benign/Likely benign rs36118030 GRCh38 Chromosome 3, 69965233: 69965233
15 46;XY;t(10;17)(p13;q23)dn Translocation Uncertain significance
16 MITF NM_000248.3(MITF): c.184A> G (p.Met62Val) single nucleotide variant Uncertain significance rs143224466 GRCh37 Chromosome 3, 69987123: 69987123
17 MITF NM_000248.3(MITF): c.184A> G (p.Met62Val) single nucleotide variant Uncertain significance rs143224466 GRCh38 Chromosome 3, 69937972: 69937972
18 MITF NM_000248.3(MITF): c.959T> C (p.Val320Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs2055006 GRCh37 Chromosome 3, 70014098: 70014098
19 MITF NM_000248.3(MITF): c.959T> C (p.Val320Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs2055006 GRCh38 Chromosome 3, 69964947: 69964947
20 MITF NM_000248.3(MITF): c.999A> T (p.Ala333=) single nucleotide variant Uncertain significance rs886058808 GRCh38 Chromosome 3, 69964987: 69964987
21 MITF NM_000248.3(MITF): c.999A> T (p.Ala333=) single nucleotide variant Uncertain significance rs886058808 GRCh37 Chromosome 3, 70014138: 70014138
22 MITF NM_000248.3(MITF): c.1248G> A (p.Glu416=) single nucleotide variant Benign/Likely benign rs200830148 GRCh38 Chromosome 3, 69965236: 69965236
23 MITF NM_000248.3(MITF): c.1248G> A (p.Glu416=) single nucleotide variant Benign/Likely benign rs200830148 GRCh37 Chromosome 3, 70014387: 70014387
24 MITF NM_000248.3(MITF): c.*235T> C single nucleotide variant Likely benign rs183031244 GRCh38 Chromosome 3, 69965483: 69965483
25 MITF NM_000248.3(MITF): c.*235T> C single nucleotide variant Likely benign rs183031244 GRCh37 Chromosome 3, 70014634: 70014634
26 MITF NM_000248.3(MITF): c.*447C> A single nucleotide variant Uncertain significance rs546175299 GRCh38 Chromosome 3, 69965695: 69965695
27 MITF NM_000248.3(MITF): c.*447C> A single nucleotide variant Uncertain significance rs546175299 GRCh37 Chromosome 3, 70014846: 70014846
28 MITF NM_000248.3(MITF): c.*556T> C single nucleotide variant Uncertain significance rs573364713 GRCh38 Chromosome 3, 69965804: 69965804
29 MITF NM_000248.3(MITF): c.*556T> C single nucleotide variant Uncertain significance rs573364713 GRCh37 Chromosome 3, 70014955: 70014955
30 MITF NM_000248.3(MITF): c.*575_*576dupAA duplication Benign rs59665466 GRCh38 Chromosome 3, 69965823: 69965824
31 MITF NM_000248.3(MITF): c.*575_*576dupAA duplication Benign rs59665466 GRCh37 Chromosome 3, 70014974: 70014975
32 MITF NM_000248.3(MITF): c.*576dupA duplication Uncertain significance rs59665466 GRCh38 Chromosome 3, 69965824: 69965824
33 MITF NM_000248.3(MITF): c.*576dupA duplication Uncertain significance rs59665466 GRCh37 Chromosome 3, 70014975: 70014975
34 MITF NM_000248.3(MITF): c.*662T> C single nucleotide variant Uncertain significance rs886058813 GRCh38 Chromosome 3, 69965910: 69965910
35 MITF NM_000248.3(MITF): c.*662T> C single nucleotide variant Uncertain significance rs886058813 GRCh37 Chromosome 3, 70015061: 70015061
36 MITF NM_000248.3(MITF): c.*1893C> T single nucleotide variant Uncertain significance rs886058815 GRCh38 Chromosome 3, 69967141: 69967141
37 MITF NM_000248.3(MITF): c.*1893C> T single nucleotide variant Uncertain significance rs886058815 GRCh37 Chromosome 3, 70016292: 70016292
38 MITF NM_000248.3(MITF): c.*2029A> T single nucleotide variant Likely benign rs571540517 GRCh38 Chromosome 3, 69967277: 69967277
39 MITF NM_000248.3(MITF): c.*2029A> T single nucleotide variant Likely benign rs571540517 GRCh37 Chromosome 3, 70016428: 70016428
40 MITF NM_000248.3(MITF): c.*2068C> T single nucleotide variant Benign rs576 GRCh38 Chromosome 3, 69967316: 69967316
41 MITF NM_000248.3(MITF): c.*2068C> T single nucleotide variant Benign rs576 GRCh37 Chromosome 3, 70016467: 70016467
42 MITF NM_000248.3(MITF): c.*2458G> A single nucleotide variant Likely benign rs77962238 GRCh38 Chromosome 3, 69967706: 69967706
43 MITF NM_000248.3(MITF): c.*2458G> A single nucleotide variant Likely benign rs77962238 GRCh37 Chromosome 3, 70016857: 70016857
44 MITF NM_000248.3(MITF): c.*2505C> T single nucleotide variant Benign rs704246 GRCh38 Chromosome 3, 69967753: 69967753
45 MITF NM_000248.3(MITF): c.*2505C> T single nucleotide variant Benign rs704246 GRCh37 Chromosome 3, 70016904: 70016904
46 MITF NM_000248.3(MITF): c.*2580C> T single nucleotide variant Likely benign rs139487027 GRCh37 Chromosome 3, 70016979: 70016979
47 MITF NM_000248.3(MITF): c.*2580C> T single nucleotide variant Likely benign rs139487027 GRCh38 Chromosome 3, 69967828: 69967828
48 MITF NM_000248.3(MITF): c.*2588G> A single nucleotide variant Uncertain significance rs559658244 GRCh37 Chromosome 3, 70016987: 70016987
49 MITF NM_000248.3(MITF): c.*2588G> A single nucleotide variant Uncertain significance rs559658244 GRCh38 Chromosome 3, 69967836: 69967836
50 MITF NM_000248.3(MITF): c.710+15G> A single nucleotide variant Uncertain significance rs144757214 GRCh37 Chromosome 3, 70005696: 70005696

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:

37
# 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 EDN3 MITF

Sources for Tietz Albinism-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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