TADS
MCID: TTZ003
MIFTS: 50

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 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:



External Ids:

OMIM 57 103500
Disease Ontology 12 DOID:0090002 DOID:14021
ICD10 33 M94.0
ICD9CM 35 733.6
Orphanet 59 ORPHA42665
MESH via Orphanet 45 C536919
UMLS via Orphanet 74 C0391816
MedGen 42 C0391816
KEGG 37 H01187

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 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 bone, 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 : 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.

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

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 71)
# Related Disease Score Top Affiliating Genes
1 albinism 30.0 TYR MITF
2 waardenburg syndrome, type 2e 29.9 SOX10 MITF
3 microphthalmia 29.7 MITF TYR PAX3
4 waardenburg's syndrome 29.4 TYR SOX10 PAX3 MITF
5 achondrogenesis, type ii 11.1
6 grover's disease 11.1
7 ankylosis 10.5
8 hemifacial microsomia 10.2
9 craniofacial microsomia 10.2
10 microtia 10.1
11 albinism, ocular, with sensorineural deafness 10.1 TYR MITF
12 pigmented basal cell carcinoma 10.1 TYR MITF
13 stuttering 10.1
14 root resorption 10.1
15 depression 10.1
16 hypomelanosis of ito 10.1 TYR MITF
17 epithelioid cell melanoma 10.1 TYR MITF
18 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 TYR MITF
19 childhood kidney cell carcinoma 10.0 PAX3 MITF
20 waardenburg syndrome type 4 10.0 SOX10 MITF
21 dowling-degos disease 1 10.0 TYR MITF
22 hermansky-pudlak syndrome 3 10.0 TYR MITF
23 cochlear disease 10.0 SOX10 MITF
24 albinism, oculocutaneous, type iv 10.0 TYR MITF
25 waardenburg syndrome, type 4a 10.0 SOX10 MITF
26 hemifacial hyperplasia 10.0
27 palatopharyngeal incompetence 10.0
28 thoracic outlet syndrome 10.0
29 gigantism 10.0
30 angiomyolipoma 10.0 TYR MITF
31 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 TYR MITF
32 ocular albinism 10.0 TYR MITF
33 cellular schwannoma 9.9 SOX10 PAX3
34 albinism-deafness syndrome 9.9
35 patulous eustachian tube 9.9
36 neurofibroma 9.9 SOX10 MITF
37 skin melanoma 9.9 TYR MITF
38 piebald trait 9.9 TYR PAX3 MITF
39 albinism, ocular, with late-onset sensorineural deafness 9.9 TYR SOX10 MITF
40 frontonasal dysplasia 1 9.9
41 anencephaly 9.9
42 respiratory distress syndrome in premature infants 9.9
43 sudden infant death syndrome 9.9
44 asthma 9.9
45 myocardial infarction 9.9
46 polyarteritis nodosa, childhood-onset 9.9
47 arthritis 9.9
48 newborn respiratory distress syndrome 9.9
49 ameloblastoma 9.9
50 fibrous dysplasia 9.9

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 hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
3 white eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002226
4 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
5 blue irides 32 HP:0000635
6 generalized hypopigmentation 32 HP:0007513
7 hypopigmentation of the fundus 32 HP:0007894
8 abnormality of skin pigmentation 59 Very frequent (99-80%)
9 white eyelashes 32 HP:0002227
10 congenital sensorineural hearing impairment 32 HP:0008527
11 abnormality of the anterior chamber 59 Very frequent (99-80%)
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 EN2 MITF PAX3 SOX10 TYR
2 cellular MP:0005384 9.8 EN2 MITF PAX3 SOX10 TYR
3 embryo MP:0005380 9.77 EN2 MITF PAX3 SOX10 TYR
4 integument MP:0010771 9.62 MITF PAX3 SOX10 TYR
5 limbs/digits/tail MP:0005371 9.56 MITF PAX3 SOX10 TYR
6 nervous system MP:0003631 9.55 EN2 MITF PAX3 SOX10 TYR
7 no phenotypic analysis MP:0003012 9.35 EN2 MITF PAX3 SOX10 TYR
8 pigmentation MP:0001186 8.92 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 29 MITF

Anatomical Context for Tietz Albinism-Deafness Syndrome

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

41
Skin, Eye, Bone, Kidney

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
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. ( 20485200 )
2010
3
Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. ( 18510545 )
2008
4
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. ( 10851256 )
2000
5
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 118)
# Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.604G> A (p.Glu202Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 70001007: 70001007
2 MITF NM_000248.3(MITF): c.604G> A (p.Glu202Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 69951856: 69951856
3 MITF NM_000248.3(MITF): c.1245G> A (p.Thr415=) single nucleotide variant Benign/Likely benign rs36118030 GRCh38 Chromosome 3, 69965233: 69965233
4 MITF NM_000248.3(MITF): c.1245G> A (p.Thr415=) single nucleotide variant Benign/Likely benign rs36118030 GRCh37 Chromosome 3, 70014384: 70014384
5 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 GRCh38 Chromosome 3, 69964849: 69964849
6 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 GRCh37 Chromosome 3, 70014000: 70014000
7 MITF NM_000248.3(MITF): c.559+9C> G single nucleotide variant Benign/Likely benign rs181810413 GRCh38 Chromosome 3, 69949177: 69949177
8 MITF NM_000248.3(MITF): c.559+9C> G single nucleotide variant Benign/Likely benign rs181810413 GRCh37 Chromosome 3, 69998328: 69998328
9 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh38 Chromosome 3, 69937833: 69937833
10 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh37 Chromosome 3, 69986984: 69986984
11 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant risk factor rs149617956 GRCh38 Chromosome 3, 69964940: 69964940
12 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant risk factor rs149617956 GRCh37 Chromosome 3, 70014091: 70014091
13 MITF NM_000248.3(MITF): c.649_651delAGA (p.Arg217del) deletion Pathogenic GRCh38 Chromosome 3, 69956469: 69956471
14 MITF NM_000248.3(MITF): c.649_651delAGA (p.Arg217del) deletion Pathogenic GRCh37 Chromosome 3, 70005620: 70005622
15 MITF NM_198159.2(MITF): c.933C> G (p.Asn311Lys) single nucleotide variant Pathogenic rs104893745 GRCh37 Chromosome 3, 70001033: 70001033
16 MITF NM_198159.2(MITF): c.933C> G (p.Asn311Lys) single nucleotide variant Pathogenic rs104893745 GRCh38 Chromosome 3, 69951882: 69951882
17 MITF NM_000248.3(MITF): c.*2458G> A single nucleotide variant Likely benign rs77962238 GRCh38 Chromosome 3, 69967706: 69967706
18 MITF NM_000248.3(MITF): c.*2068C> T single nucleotide variant Benign rs576 GRCh37 Chromosome 3, 70016467: 70016467
19 MITF NM_000248.3(MITF): c.*2068C> T single nucleotide variant Benign rs576 GRCh38 Chromosome 3, 69967316: 69967316
20 MITF NM_000248.3(MITF): c.*2029A> T single nucleotide variant Likely benign rs571540517 GRCh37 Chromosome 3, 70016428: 70016428
21 MITF NM_000248.3(MITF): c.*2029A> T single nucleotide variant Likely benign rs571540517 GRCh38 Chromosome 3, 69967277: 69967277
22 MITF NM_000248.3(MITF): c.*1893C> T single nucleotide variant Uncertain significance rs886058815 GRCh37 Chromosome 3, 70016292: 70016292
23 MITF NM_000248.3(MITF): c.*1893C> T single nucleotide variant Uncertain significance rs886058815 GRCh38 Chromosome 3, 69967141: 69967141
24 MITF NM_000248.3(MITF): c.*662T> C single nucleotide variant Uncertain significance rs886058813 GRCh37 Chromosome 3, 70015061: 70015061
25 MITF NM_000248.3(MITF): c.*662T> C single nucleotide variant Uncertain significance rs886058813 GRCh38 Chromosome 3, 69965910: 69965910
26 MITF NM_000248.3(MITF): c.*576dupA duplication Uncertain significance rs59665466 GRCh37 Chromosome 3, 70014975: 70014975
27 MITF NM_000248.3(MITF): c.*576dupA duplication Uncertain significance rs59665466 GRCh38 Chromosome 3, 69965824: 69965824
28 MITF NM_000248.3(MITF): c.*575_*576dupAA duplication Benign rs59665466 GRCh37 Chromosome 3, 70014974: 70014975
29 MITF NM_000248.3(MITF): c.*575_*576dupAA duplication Benign rs59665466 GRCh38 Chromosome 3, 69965823: 69965824
30 MITF NM_000248.3(MITF): c.*556T> C single nucleotide variant Uncertain significance rs573364713 GRCh37 Chromosome 3, 70014955: 70014955
31 MITF NM_000248.3(MITF): c.*556T> C single nucleotide variant Uncertain significance rs573364713 GRCh38 Chromosome 3, 69965804: 69965804
32 MITF NM_000248.3(MITF): c.*447C> A single nucleotide variant Uncertain significance rs546175299 GRCh37 Chromosome 3, 70014846: 70014846
33 MITF NM_000248.3(MITF): c.*447C> A single nucleotide variant Uncertain significance rs546175299 GRCh38 Chromosome 3, 69965695: 69965695
34 MITF NM_000248.3(MITF): c.*235T> C single nucleotide variant Likely benign rs183031244 GRCh37 Chromosome 3, 70014634: 70014634
35 MITF NM_000248.3(MITF): c.*235T> C single nucleotide variant Likely benign rs183031244 GRCh38 Chromosome 3, 69965483: 69965483
36 MITF NM_000248.3(MITF): c.1248G> A (p.Glu416=) single nucleotide variant Benign/Likely benign rs200830148 GRCh37 Chromosome 3, 70014387: 70014387
37 MITF NM_000248.3(MITF): c.1248G> A (p.Glu416=) single nucleotide variant Benign/Likely benign rs200830148 GRCh38 Chromosome 3, 69965236: 69965236
38 MITF NM_000248.3(MITF): c.999A> T (p.Ala333=) single nucleotide variant Uncertain significance rs886058808 GRCh37 Chromosome 3, 70014138: 70014138
39 MITF NM_000248.3(MITF): c.999A> T (p.Ala333=) single nucleotide variant Uncertain significance rs886058808 GRCh38 Chromosome 3, 69964987: 69964987
40 MITF NM_000248.3(MITF): c.959T> C (p.Val320Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs2055006 GRCh37 Chromosome 3, 70014098: 70014098
41 MITF NM_000248.3(MITF): c.959T> C (p.Val320Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs2055006 GRCh38 Chromosome 3, 69964947: 69964947
42 MITF NM_000248.3(MITF): c.184A> G (p.Met62Val) single nucleotide variant Uncertain significance rs143224466 GRCh38 Chromosome 3, 69937972: 69937972
43 MITF NM_000248.3(MITF): c.184A> G (p.Met62Val) single nucleotide variant Uncertain significance rs143224466 GRCh37 Chromosome 3, 69987123: 69987123
44 MITF NM_000248.3(MITF): c.*2170A> G single nucleotide variant Likely benign rs78240629 GRCh37 Chromosome 3, 70016569: 70016569
45 MITF NM_000248.3(MITF): c.*2170A> G single nucleotide variant Likely benign rs78240629 GRCh38 Chromosome 3, 69967418: 69967418
46 MITF NM_000248.3(MITF): c.*2159dupG duplication Likely benign rs886058818 GRCh37 Chromosome 3, 70016558: 70016558
47 MITF NM_000248.3(MITF): c.*2159dupG duplication Likely benign rs886058818 GRCh38 Chromosome 3, 69967407: 69967407
48 MITF NM_000248.3(MITF): c.*1570C> T single nucleotide variant Uncertain significance rs528276006 GRCh37 Chromosome 3, 70015969: 70015969
49 MITF NM_000248.3(MITF): c.*1570C> T single nucleotide variant Uncertain significance rs528276006 GRCh38 Chromosome 3, 69966818: 69966818
50 MITF NM_000248.3(MITF): c.*1248T> C single nucleotide variant Likely benign rs2131025 GRCh37 Chromosome 3, 70015647: 70015647

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 regulation of transcription, DNA-templated GO:0006355 9.56 EN2 MITF PAX3 SOX10
2 positive regulation of transcription, DNA-templated GO:0045893 9.5 MITF PAX3 SOX10
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.46 EN2 MITF PAX3 SOX10
4 pigmentation GO:0043473 8.96 MITF TYR
5 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 EN2 MITF PAX3 SOX10
2 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
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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