TADS
MCID: TTZ003
MIFTS: 58

Tietz Albinism-Deafness Syndrome (TADS)

Categories: Ear diseases, Fetal diseases, Genetic 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 56 12 52 25 73 13 39
Tietz Syndrome 56 12 74 52 25 58 73 36 29 54 6 15 71
Hypopigmentation/deafness of Tietz 56 12 52 25 73
Albinism-Deafness of Tietz 56 12 52 25 73
Tietze's Syndrome 12 52 43 15 71
Hypopigmentation-Deafness Syndrome 25 58
Costochondral Junction Syndrome 12 52
Costochondritis 12 74
Tietze Syndrome 12 52
Tads 56 73
Abnormality of the Costochondral Junction 6
Albinism and Complete Nerve Deafness 25
Chondropathia Tuberosa 52
Slipping Rib Syndrome 12
Costal Chondritis 74
Costalchondritis 12
Tietze's Disease 12
Tietz's Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
tietz syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
allelic to waardenburg syndrome, type iia


HPO:

31
tietz albinism-deafness syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0090002 DOID:14021
OMIM 56 103500
KEGG 36 H01187
ICD9CM 34 733.6
ICD10 32 M94.0
MESH via Orphanet 44 C536919
UMLS via Orphanet 72 C0391816
Orphanet 58 ORPHA42665
MedGen 41 C0391816
UMLS 71 C0040213 C0391816

Summaries for Tietz Albinism-Deafness Syndrome

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. Tietz syndrome also affects the eyes. The colored part of the eye (the iris) in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The retinal pigment epithelium nourishes the retina, the part of the eye that detects light and color. The changes to the retinal pigment epithelium are generally detectable only by an eye examination; it is unclear whether the changes affect vision.

MalaCards based summary : Tietz Albinism-Deafness Syndrome, also known as tietz syndrome, is related to hypomelanosis of ito and waardenburg syndrome, type 1. 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. The drugs Perphenazine and Pregabalin have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and retina, 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.

NIH Rare Diseases : 52 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.

OMIM : 56 Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by Izumi et al., 2008). (103500)

KEGG : 36 Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2) [DS:H00169], which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.

UniProtKB/Swiss-Prot : 73 Tietz albinism-deafness syndrome: An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.

Wikipedia : 74 Costochondritis, also known as chest wall pain, costosternal syndrome, or costosternal chondrodynia is... more...

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 219)
# Related Disease Score Top Affiliating Genes
1 hypomelanosis of ito 30.3 TYR MITF
2 waardenburg syndrome, type 1 29.7 SOX10 PAX3 MITF EDNRB EDN3
3 albinism 28.9 TYRP1 TYR SLC45A2 OCA2 MITF
4 waardenburg's syndrome 27.8 TYRP1 TYR TFEC SOX10 PAX3 MITF
5 microphthalmia 27.8 TYRP1 TYR TFEC SOX10 PMEL PAX3
6 waardenburg syndrome, type 2e 27.6 TYR TFEC SOX10 PMEL PAX3 MITF
7 grover's disease 11.6
8 achondrogenesis, type ii 11.3
9 ankylosis 10.7
10 depression 10.7
11 major depressive disorder 10.6
12 mental depression 10.6
13 overgrowth syndrome 10.6
14 temporomandibular ankylosis 10.5
15 hemifacial microsomia 10.5
16 leukemia, acute myeloid 10.4
17 myeloid leukemia 10.4
18 osteomyelitis 10.4
19 plasma cell tumor 10.4
20 lymphoma 10.3
21 malignant choroid melanoma 10.3 SOX10 MITF
22 craniofacial microsomia 10.3
23 branchiootic syndrome 1 10.2
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
25 epithelioid cell melanoma 10.2 TYR MITF
26 waardenburg syndrome, type 2b 10.2 SOX10 MITF EDN3
27 microtia 10.2
28 angina pectoris 10.2
29 respiratory failure 10.2
30 pleural empyema 10.2
31 cochlear disease 10.2 SOX10 EDNRB EDN3
32 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 10.2
33 cleft lip 10.1
34 cleft lip/palate 10.1
35 autoimmune disease 10.1
36 chlorpropamide-alcohol flushing 10.1
37 polykaryocytosis inducer 10.1
38 myeloma, multiple 10.1
39 rapidly involuting congenital hemangioma 10.1
40 nodular malignant melanoma 10.1 TYR MITF
41 ocular albinism with congenital sensorineural deafness 10.1 TYR PAX3 MITF
42 actinic keratosis 10.1 TYR SOX10 MITF
43 intestinal pseudo-obstruction 10.1 SOX10 EDNRB EDN3
44 neurilemmoma 10.1 TYR SOX10 MITF
45 goldberg-shprintzen syndrome 10.1 EDNRB EDN3
46 frontonasal dysplasia 1 10.1
47 maxillonasal dysplasia, binder type 10.1
48 palatopharyngeal incompetence 10.1
49 pectus excavatum 10.1
50 candidiasis 10.1

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


Esophagitis Hypertension, Essential
Intermediate Coronary Syndrome

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
3 hypopigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001010
4 white eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002226
5 abnormal anterior chamber morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000593
6 abnormality of skin pigmentation 58 Very frequent (99-80%)
7 blue irides 31 HP:0000635
8 generalized hypopigmentation 31 HP:0007513
9 hypopigmentation of the fundus 31 HP:0007894
10 white eyelashes 31 HP:0002227
11 congenital sensorineural hearing impairment 31 HP:0008527
12 bilateral sensorineural hearing impairment 31 HP:0008619

Symptoms via clinical synopsis from OMIM:

56
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:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 10.25 DCT EDN3 EDNRB KITLG MITF OCA2
2 behavior/neurological MP:0005386 10.24 EDN3 EDNRB MITF OCA2 PAX3 PMEL
3 homeostasis/metabolism MP:0005376 10.23 DCT EDNRB KITLG MITF OCA2 PAX3
4 craniofacial MP:0005382 10.07 EDNRB KITLG MITF OCA2 PAX3 TYR
5 embryo MP:0005380 10.04 EDN3 EDNRB KITLG MITF PAX3 SOX10
6 hearing/vestibular/ear MP:0005377 10.02 EDNRB KITLG MITF OCA2 PAX3 TYR
7 limbs/digits/tail MP:0005371 10.01 EDNRB KITLG MITF OCA2 PAX3 SOX10
8 digestive/alimentary MP:0005381 9.99 EDN3 EDNRB KITLG OCA2 PAX3 SOX10
9 nervous system MP:0003631 9.97 DCT EDN3 EDNRB KITLG MITF PAX3
10 pigmentation MP:0001186 9.97 DCT EDN3 EDNRB KITLG MITF OCA2
11 neoplasm MP:0002006 9.85 EDNRB KITLG PAX3 SOX10 TYR TYRP1
12 no phenotypic analysis MP:0003012 9.73 MITF OCA2 PAX3 PMEL SOX10 TYR
13 skeleton MP:0005390 9.56 EDNRB KITLG MITF OCA2 PAX3 TFEC
14 vision/eye MP:0005391 9.36 DCT EDNRB KITLG MITF OCA2 PAX3

Drugs & Therapeutics for Tietz Albinism-Deafness Syndrome

Drugs for Tietz Albinism-Deafness Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perphenazine Approved Phase 3 58-39-9 4748
2
Pregabalin Approved, Investigational Phase 3 148553-50-8 5486971
3
Amitriptyline Approved Phase 3 50-48-6 2160
4
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
5
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
6 Antipsychotic Agents Phase 3
7 Anti-Anxiety Agents Phase 3
8 Central Nervous System Depressants Phase 3
9 Tranquilizing Agents Phase 3
10 Analgesics, Non-Narcotic Phase 3
11 Amitriptyline, perphenazine drug combination Phase 3
12 calcium channel blockers Phase 3
13 Calcium, Dietary Phase 3
14 Anticonvulsants Phase 3
15 Adrenergic Agents Phase 3
16 Antidepressive Agents, Tricyclic Phase 3
17 Serotonin Uptake Inhibitors Phase 3
18 Neurotransmitter Agents Phase 3
19 Cytochrome P-450 Enzyme Inhibitors Phase 3
20 Antidepressive Agents Phase 3
21 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
22 Psychotropic Drugs Phase 3
23 Serotonin Agents Phase 3
24
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
25
Tamoxifen Approved Phase 2 10540-29-1 2733526
26
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
28
Iodine Approved, Investigational Phase 2 7553-56-2 807
29
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
30
Citalopram Approved Phase 2 59729-33-8 2771
31
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
32 Hormones Phase 2
33 Analgesics Phase 2
34 Estrogens Phase 2
35 Hormone Antagonists Phase 2
36 Selective Estrogen Receptor Modulators Phase 2
37 BB 1101 Phase 2
38 Antineoplastic Agents, Hormonal Phase 2
39 Estrogen Receptor Antagonists Phase 2
40 Estrogen Antagonists Phase 2
41 cadexomer iodine Phase 2
42 Estrogen Receptor Modulators Phase 2
43 Antiparkinson Agents Phase 2
44 Muscarinic Antagonists Phase 2
45 Autonomic Agents Phase 2
46 Cholinergic Agents Phase 2
47 Cholinergic Antagonists Phase 2
48 Parasympatholytics Phase 2
49 Omega 3 Fatty Acid Phase 1
50
Amoxicillin Approved, Vet_approved Early Phase 1 26787-78-0 33613

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Randomised Controlled Trial in the Palliative Setting Regarding Off-Label Medication: Investigating the Efficiency of Amitriptyline Versus Pregabalin From a Societal Perspective Unknown status NCT00740571 Phase 3 amitriptyline;pregabalin
2 Treatment for Adolescents With Depression Study (TADS) Completed NCT00006286 Phase 3 Fluoxetine
3 Analgesic Efficacy of Pulsed Radiofrequency in Non-cyclic Mastalgia Completed NCT03715413 Phase 2 Tamoxifen
4 Adjunctive Creatine Treatment for Adolescent Females With Major Depressive Disorder Who Are Non-Responders to Fluoxetine or Escitalopram: A Magnetic Resonance Spectroscopy Study Completed NCT00851006 Phase 2 Creatine Monohydrate
5 Omega-3 Fatty Acids & Psychoeducational Psychotherapy for Childhood Depression Completed NCT01341925 Phase 1 Omega-3 Supplementation
6 A Clinical Study of Acupuncture Comprehensive Therapy on Common Orthopedic Pain Syndromes Unknown status NCT02983201
7 Optimum Micro-osteoperforations Accelerated Tooth Movement Interval, Related Pain Perception and Impact to Daily Functions - A Randomized Controlled Trial Unknown status NCT02571348
8 Interpersonal Counseling (IPC) for Treatment of Depression in Adolescents: Implementation and Effectiveness Study in School Health Care Unknown status NCT03001245
9 Three Dimensional Movement Analysis of Maxillary Impacted Canine Using TADs: a Randomized Clinical Trial Completed NCT01717417
10 Effect of Micro-osteoperforation on the Rate of Canine Retraction: A Split Mouth Randomized Controlled Trial Completed NCT03450278
11 Assessment of Skeletal and Dentoalveolar Changes Resulting From Posterior Teeth Intrusion in Treatment of the Anterior Open Bite - a Randomized Controlled Trial Completed NCT02865213
12 Three- Dimensional Evaluation of Accelerated Tooth Movement Completed NCT02416297
13 Efficiency and Effectiveness of Three Methods of Anchorage Reinforcement in Orthodontics Completed NCT00995436
14 Impact of Increasing Adolescent Depression Literacy on Treatment-Seeking Behavior Completed NCT02099305
15 New Technologies for Cognitive Behavior Therapy (CBT) Treatment of Adolescent Depression Completed NCT01868867
16 Antibiotic Prophylaxis Prior to the Insertion of Orthodontic Mini-screw Implants: a Randomized Controlled Trial Recruiting NCT03582605 Early Phase 1 Amoxicillin;Placebo oral capsule
17 Youth Experiences and Health (YEAH) Study - Psychological Symptoms and Resources as Predictors of Mental Health Among Treatment-seeking Adolescents Not yet recruiting NCT03332966

Search 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:

40
Eye, Skin, Retina, Thyroid, Bone, Myeloid, T Cells

Publications for Tietz Albinism-Deafness Syndrome

Articles related to Tietz Albinism-Deafness Syndrome:

(show all 24)
# Title Authors PMID Year
1
Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. 54 61 56 6
18510545 2008
2
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. 54 61 56 6
10851256 2000
3
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). 54 61 56 6
9546825 1998
4
The mutational spectrum in Waardenburg syndrome. 56 6
8589691 1995
5
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. 56 6
13985019 1963
6
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 6
27889061 2016
7
Pigmentary disorders in association with congenital deafness. 56
6018993 1967
8
MITF: a stream flowing for pigment cells. 54 61
10952390 2000
9
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. 54 61
10790403 2000
10
A cascade of genes related to Waardenburg syndrome. 54 61
10536986 1999
11
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism. 61
31284637 2019
12
Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations. 61
27604145 2016
13
[Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome]. 61
26252099 2015
14
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes]. 61
24379252 2013
15
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 61
23787126 2013
16
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. 61
23512835 2013
17
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. 61
23020089 2013
18
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. 61
22258527 2012
19
A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. 61
22174915 2011
20
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. 61
20485200 2010
21
[Hereditary pigmentary disorders]. 61
20556350 2010
22
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. 61
19938076 2009
23
[Diagnosis and treatment of Tietze's syndrome]. 61
1154605 1975
24
[Tietz syndrome]. 61
13309498 1956

Variations for Tietz Albinism-Deafness Syndrome

ClinVar genetic disease variations for Tietz Albinism-Deafness Syndrome:

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MITF NM_000248.3(MITF):c.643AGA[2]short repeat Pathogenic 14272 rs1553704814 3:70005612-70005614 3:69956461-69956463
2 MITF NM_000248.3(MITF):c.630C>G (p.Asn210Lys)SNV Pathogenic 14275 rs104893745 3:70001033-70001033 3:69951882-69951882
3 MITF NM_000248.3(MITF):c.718C>G (p.Arg240Gly)SNV Likely pathogenic 545117 rs1559751245 3:70008431-70008431 3:69959280-69959280
4 MITF NM_000248.3(MITF):c.604G>A (p.Glu202Lys)SNV Likely pathogenic 545452 rs1553704086 3:70001007-70001007 3:69951856-69951856
5 MITF NM_000248.3(MITF):c.258del (p.Glu87fs)deletion Likely pathogenic 801981 3:69987193-69987193 3:69938042-69938042
6 MITF NM_000248.3(MITF):c.323A>T (p.His108Leu)SNV Conflicting interpretations of pathogenicity 346495 rs761038653 3:69988310-69988310 3:69939159-69939159
7 MITF NM_000248.3(MITF):c.952G>A (p.Glu318Lys)SNV Conflicting interpretations of pathogenicity 29792 rs149617956 3:70014091-70014091 3:69964940-69964940
8 MITF NM_000248.3(MITF):c.861A>G (p.Glu287=)SNV Conflicting interpretations of pathogenicity 227545 rs137904015 3:70014000-70014000 3:69964849-69964849
9 MITF NM_000248.3(MITF):c.959T>C (p.Val320Ala)SNV Conflicting interpretations of pathogenicity 346499 rs2055006 3:70014098-70014098 3:69964947-69964947
10 MITF NM_000248.3(MITF):c.999A>T (p.Ala333=)SNV Uncertain significance 346500 rs886058808 3:70014138-70014138 3:69964987-69964987
11 MITF NM_000248.3(MITF):c.*447C>ASNV Uncertain significance 346513 rs546175299 3:70014846-70014846 3:69965695-69965695
12 MITF NM_000248.3(MITF):c.*556T>CSNV Uncertain significance 346514 rs573364713 3:70014955-70014955 3:69965804-69965804
13 MITF NM_000248.3(MITF):c.*576dupduplication Uncertain significance 346515 rs59665466 3:70014965-70014966 3:69965814-69965815
14 MITF NM_000248.3(MITF):c.*662T>CSNV Uncertain significance 346518 rs886058813 3:70015061-70015061 3:69965910-69965910
15 MITF NM_000248.3(MITF):c.*1893C>TSNV Uncertain significance 346527 rs886058815 3:70016292-70016292 3:69967141-69967141
16 46;XY;t(10;17)(p13;q23)dnTranslocation Uncertain significance 268030
17 MITF NM_000248.3(MITF):c.184A>G (p.Met62Val)SNV Uncertain significance 346494 rs143224466 3:69987123-69987123 3:69937972-69937972
18 MITF NM_000248.3(MITF):c.*2588G>ASNV Uncertain significance 346540 rs559658244 3:70016987-70016987 3:69967836-69967836
19 MITF NM_000248.3(MITF):c.710+15G>ASNV Uncertain significance 346496 rs144757214 3:70005696-70005696 3:69956545-69956545
20 MITF NM_000248.3(MITF):c.*12T>CSNV Uncertain significance 346502 rs201375960 3:70014411-70014411 3:69965260-69965260
21 MITF NM_000248.3(MITF):c.*23C>TSNV Uncertain significance 346503 rs746168511 3:70014422-70014422 3:69965271-69965271
22 MITF NM_000248.3(MITF):c.*115C>TSNV Uncertain significance 346505 rs886058809 3:70014514-70014514 3:69965363-69965363
23 MITF NM_000248.3(MITF):c.*1502A>TSNV Uncertain significance 346524 rs766340943 3:70015901-70015901 3:69966750-69966750
24 MITF NM_000248.3(MITF):c.*1869G>TSNV Uncertain significance 346526 rs886058814 3:70016268-70016268 3:69967117-69967117
25 MITF NM_000248.3(MITF):c.*1934G>TSNV Uncertain significance 346529 rs572298352 3:70016333-70016333 3:69967182-69967182
26 MITF NM_000248.3(MITF):c.*2079A>CSNV Uncertain significance 346533 rs886058817 3:70016478-70016478 3:69967327-69967327
27 MITF NM_000248.3(MITF):c.*2160deldeletion Uncertain significance 346535 rs565618309 3:70016559-70016559 3:69967408-69967408
28 MITF NM_000248.3(MITF):c.*2753T>CSNV Uncertain significance 346541 rs886058819 3:70017152-70017152 3:69968001-69968001
29 MITF NM_000248.3(MITF):c.*286G>ASNV Uncertain significance 346508 rs187361634 3:70014685-70014685 3:69965534-69965534
30 MITF NM_000248.3(MITF):c.*413_*416deldeletion Uncertain significance 346510 rs886058810 3:70014805-70014808 3:69965654-69965657
31 MITF NM_006722.2(MITF):c.*415_*418AAGA[2]short repeat Uncertain significance 346511 rs886058811 3:70014813-70014816 3:69965662-69965665
32 MITF NM_000248.3(MITF):c.*574_*576dupduplication Uncertain significance 346517 rs59665466 3:70014965-70014966 3:69965814-69965815
33 MITF NM_000248.3(MITF):c.666C>A (p.Asp222Glu)SNV Uncertain significance 651681 3:70005637-70005637 3:69956486-69956486
34 MITF NM_000248.3(MITF):c.*1570C>TSNV Uncertain significance 346525 rs528276006 3:70015969-70015969 3:69966818-69966818
35 MITF NM_000248.3(MITF):c.938G>A (p.Arg313Gln)SNV Uncertain significance 346498 rs201351378 3:70014077-70014077 3:69964926-69964926
36 MITF NM_000248.3(MITF):c.*421G>TSNV Uncertain significance 346512 rs886058812 3:70014820-70014820 3:69965669-69965669
37 MITF NM_000248.3(MITF):c.*1933C>TSNV Uncertain significance 346528 rs555688827 3:70016332-70016332 3:69967181-69967181
38 MITF NM_000248.3(MITF):c.*2077G>TSNV Uncertain significance 346532 rs886058816 3:70016476-70016476 3:69967325-69967325
39 MITF NM_000248.3(MITF):c.*2868T>CSNV Likely benign 346542 rs529623175 3:70017267-70017267 3:69968116-69968116
40 MITF NM_000248.3(MITF):c.*3033A>GSNV Likely benign 346543 rs139770177 3:70017432-70017432 3:69968281-69968281
41 MITF NM_000248.3(MITF):c.*1491A>GSNV Likely benign 346523 rs80212793 3:70015890-70015890 3:69966739-69966739
42 MITF NM_000248.3(MITF):c.*228C>TSNV Likely benign 346506 rs190540926 3:70014627-70014627 3:69965476-69965476
43 MITF NM_000248.3(MITF):c.*2159dupduplication Likely benign 346534 rs550555819 3:70016551-70016552 3:69967400-69967401
44 MITF NM_000248.3(MITF):c.*2170A>GSNV Likely benign 346536 rs78240629 3:70016569-70016569 3:69967418-69967418
45 MITF NM_000248.3(MITF):c.*1248T>CSNV Likely benign 346522 rs2131025 3:70015647-70015647 3:69966496-69966496
46 MITF NM_000248.3(MITF):c.901C>G (p.Pro301Ala)SNV Likely benign 346497 rs199992377 3:70014040-70014040 3:69964889-69964889
47 MITF NM_000248.3(MITF):c.*379T>CSNV Likely benign 346509 rs552044239 3:70014778-70014778 3:69965627-69965627
48 MITF NM_000248.3(MITF):c.*836G>TSNV Likely benign 346519 rs558793046 3:70015235-70015235 3:69966084-69966084
49 MITF NM_000248.3(MITF):c.*1101G>ASNV Likely benign 346520 rs557878790 3:70015500-70015500 3:69966349-69966349
50 MITF NM_000248.3(MITF):c.*1150T>CSNV Likely benign 346521 rs150314710 3:70015549-70015549 3:69966398-69966398

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

73
# Symbol AA change Variation ID SNP ID
1 MITF p.Asn317Lys VAR_010298 rs104893745

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
Show member pathways
12.5 TYRP1 TYR MITF KITLG EDNRB DCT
2 11.47 SOX10 PAX3 MITF DCT
3
Show member pathways
11.38 TYRP1 TYR DCT
4 10.87 SOX10 PAX3 MITF KITLG
5 9.72 TYRP1 TYR SLC45A2 OCA2 DCT

GO Terms for Tietz Albinism-Deafness Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.26 TYRP1 TYR PMEL DCT
2 melanosome membrane GO:0033162 9.02 TYRP1 TYR SLC45A2 OCA2 DCT

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.63 TYRP1 TYR OCA2 MITF EDNRB DCT
2 neural crest cell migration GO:0001755 9.62 SOX10 KITLG EDNRB EDN3
3 developmental pigmentation GO:0048066 9.56 SLC45A2 OCA2 EDNRB DCT
4 peripheral nervous system development GO:0007422 9.52 SOX10 EDNRB
5 positive regulation of neuroblast proliferation GO:0002052 9.51 SOX10 DCT
6 melanosome organization GO:0032438 9.49 TYRP1 PMEL
7 vasoconstriction GO:0042310 9.48 EDNRB EDN3
8 enteric nervous system development GO:0048484 9.46 SOX10 EDNRB
9 vein smooth muscle contraction GO:0014826 9.43 EDNRB EDN3
10 melanocyte differentiation GO:0030318 9.43 TYRP1 SOX10 OCA2 MITF EDNRB EDN3
11 eye pigment biosynthetic process GO:0006726 9.4 TYR OCA2
12 melanin biosynthetic process from tyrosine GO:0006583 9.37 TYR DCT
13 melanin biosynthetic process GO:0042438 9.1 TYRP1 TYR SLC45A2 PMEL OCA2 DCT

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

# Name GO ID Score Top Affiliating Genes
1 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Tietz Albinism-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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