TADS
MCID: TTZ003
MIFTS: 59

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 57 12 20 43 72 13
Tietz Syndrome 57 12 73 20 43 58 72 36 29 54 6 15 70
Hypopigmentation/deafness of Tietz 57 12 20 43 72
Albinism-Deafness of Tietz 57 12 20 43 72
Tietze's Syndrome 12 20 44 15 70
Hypopigmentation-Deafness Syndrome 43 58
Costochondral Junction Syndrome 12 20
Costochondritis 12 73
Tietze Syndrome 12 20
Tads 57 72
Abnormality of the Costochondral Junction 6
Hypopigmentation-Hearing Loss Syndrome 58
Albinism and Complete Nerve Deafness 43
Syndrome, Tietz Albinism-Deafness 39
Chondropathia Tuberosa 20
Slipping Rib Syndrome 12
Costal Chondritis 73
Costalchondritis 12
Tietze's Disease 12
Tietz's Syndrome 43

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®:

57 (Updated 20-May-2021)
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® 57 103500
KEGG 36 H01187
ICD9CM 34 733.6
SNOMED-CT 67 156848001
ICD10 32 M94.0
MESH via Orphanet 45 C536919
UMLS via Orphanet 71 C0391816
Orphanet 58 ORPHA42665
MedGen 41 C0391816
UMLS 70 C0040213 C0391816

Summaries for Tietz Albinism-Deafness Syndrome

MedlinePlus Genetics : 43 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 pigmentation disease and albinism. 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 Bortezomib and Pirarubicin 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.

GARD : 20 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® : 57 Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by Izumi et al., 2008). (103500) (Updated 20-May-2021)

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 : 72 Tietz albinism-deafness syndrome: An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.

Wikipedia : 73 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 158)
# Related Disease Score Top Affiliating Genes
1 pigmentation disease 29.9 TYR MITF KIT
2 albinism 29.5 TYRP1 TYR SLC45A2 MITF DCT
3 microphthalmia 28.5 TYRP1 TYR TFEC SOX10 PAX3 MITF
4 waardenburg syndrome, type 2e 28.3 TYR TFEC SOX10 SNAI2 PAX3 MITF
5 waardenburg's syndrome 27.1 TYRP1 TYR TFEC SOX10 SNAI2 SLC45A2
6 major depressive disorder 10.5
7 mental depression 10.5
8 depression 10.4
9 gallbladder melanoma 10.3 SOX10 MITF
10 malignant choroid melanoma 10.3 SOX10 MITF
11 melanoma, cutaneous malignant 8 10.3 TYR MITF
12 epithelioid cell melanoma 10.3 TYR MITF
13 waardenburg syndrome, type 2b 10.2 SOX10 MITF EDN3
14 orbit rhabdomyosarcoma 10.2 TYR PAX3
15 cochlear disease 10.2 SOX10 EDNRB EDN3
16 ocular albinism with congenital sensorineural deafness 10.2 TYR PAX3 MITF
17 crest syndrome 10.2 SOX10 EDNRB
18 albinism, ocular, with late-onset sensorineural deafness 10.2 TYR PAX3 MITF
19 actinic keratosis 10.2 TYR SOX10 MITF
20 branchiootic syndrome 1 10.2
21 osteomyelitis 10.2
22 plasma cell tumor 10.2
23 plexiform schwannoma 10.1 SOX10 KIT
24 cutaneous ganglioneuroma 10.1 MITF KIT
25 angina pectoris 10.1
26 central hypoventilation syndrome, congenital 10.1 SOX10 EDNRB EDN3
27 ochronosis 10.1 TYRP1 TYR MITF
28 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 10.1
29 conventional fibrosarcoma 10.1 PAX3 KIT
30 waardenburg syndrome, type 2c 10.1 SOX10 MITF EDNRB EDN3
31 waardenburg syndrome type 4 10.1 SOX10 MITF EDNRB EDN3
32 pain agnosia 10.1
33 esophagitis 10.1
34 goldberg-shprintzen syndrome 10.1 EDNRB EDN3
35 relapsing polychondritis 10.1
36 pleural empyema 10.1
37 perivascular tumor 10.0 MITF KIT
38 megacolon 10.0 SOX10 PAX3 EDNRB EDN3
39 albinism, oculocutaneous, type ii 10.0 TYRP1 TYR SLC45A2
40 nodular malignant melanoma 10.0 TYR MITF KIT
41 angiomyolipoma 10.0 TYR MITF KIT
42 melanocytic nevus syndrome, congenital 10.0 TYR KITLG
43 rare genetic deafness 10.0 SOX10 PAX3 MITF EDNRB
44 albinism, oculocutaneous, type v 10.0 TYRP1 TYR SLC45A2
45 acute contagious conjunctivitis 10.0 TYRP1 TYR SLC45A2
46 acute conjunctivitis 10.0 TYRP1 TYR SLC45A2
47 albinism, oculocutaneous, type ib 10.0 TYRP1 TYR SLC45A2
48 albinism, oculocutaneous, type ia 10.0 TYRP1 TYR SLC45A2
49 extracutaneous mastocytoma 10.0 KITLG KIT
50 albinism, oculocutaneous, type vii 10.0 TYRP1 TYR SLC45A2

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 white eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002226
4 hypopigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001010
5 abnormal anterior chamber morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000593
6 blue irides 31 HP:0000635
7 generalized hypopigmentation 31 HP:0007513
8 white eyelashes 31 HP:0002227
9 congenital sensorineural hearing impairment 31 HP:0008527
10 abnormality of skin pigmentation 58 Very frequent (99-80%)
11 hypopigmentation of the fundus 31 HP:0007894
12 bilateral sensorineural hearing impairment 31 HP:0008619

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Tietz Albinism-Deafness Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 EDN3 EDNRB KIT MITF PAX3 SLC45A2
2 integument MP:0010771 10.22 DCT EDN3 EDNRB KIT KITLG MITF
3 homeostasis/metabolism MP:0005376 10.21 DCT EDNRB KIT KITLG LAPTM4A MITF
4 embryo MP:0005380 10.15 EDN3 EDNRB KIT KITLG MITF PAX3
5 craniofacial MP:0005382 10.13 EDNRB KIT KITLG MITF PAX3 SNAI2
6 endocrine/exocrine gland MP:0005379 10.08 EDNRB KIT KITLG MITF PAX3 SNAI2
7 digestive/alimentary MP:0005381 10.05 EDN3 EDNRB KIT KITLG PAX3 SNAI2
8 nervous system MP:0003631 10.03 DCT EDN3 EDNRB KIT KITLG LAPTM4A
9 limbs/digits/tail MP:0005371 10.02 EDNRB KIT KITLG LAPTM4A MITF PAX3
10 hearing/vestibular/ear MP:0005377 10 EDNRB KIT KITLG MITF PAX3 TYR
11 pigmentation MP:0001186 9.97 DCT EDN3 EDNRB KIT KITLG MITF
12 neoplasm MP:0002006 9.87 EDNRB KIT KITLG PAX3 SOX10 TYR
13 skeleton MP:0005390 9.65 EDNRB KIT KITLG LAPTM4A MITF PAX3
14 vision/eye MP:0005391 9.4 DCT EDNRB KIT KITLG LAPTM4A MITF

Drugs & Therapeutics for Tietz Albinism-Deafness Syndrome

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
2
Pirarubicin Investigational Phase 4 72496-41-4
3
protease inhibitors Phase 4
4 BB 1101 Phase 4
5 HIV Protease Inhibitors Phase 4
6 Anti-Bacterial Agents Phase 4
7 Antibiotics, Antitubercular Phase 4
8 Anti-Infective Agents Phase 4
9 Gentamicins Phase 4
10
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
11 Psychotropic Drugs Phase 3
12 Serotonin Uptake Inhibitors Phase 3
13 Antidepressive Agents Phase 3
14 Neurotransmitter Agents Phase 3
15 Cytochrome P-450 Enzyme Inhibitors Phase 3
16
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
17
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
18
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
19
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
20
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
21 Antiemetics Phase 2
22 Angiogenesis Inhibitors Phase 2
23 Gastrointestinal Agents Phase 2
24 Hormones Phase 2
25 Immunosuppressive Agents Phase 2
26 Anti-Inflammatory Agents Phase 2
27 Hormone Antagonists Phase 2
28 glucocorticoids Phase 2
29
Liposomal doxorubicin Phase 2 31703
30 Antineoplastic Agents, Hormonal Phase 2
31 Immunologic Factors Phase 2
32
Cefazolin Approved Phase 1 25953-19-9 656510 33255
33
Metronidazole Approved Phase 1 443-48-1 4173
34 Antiparasitic Agents Phase 1
35 Antitubercular Agents Phase 1
36 Antiprotozoal Agents Phase 1
37 Tissue Plasminogen Activator
38 Analgesics
39
Ethylene 74-85-1 6325

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Study of Efficacy of PAD-regimen(Bortezomib,Pirarubicin and Dexamethasone) and TAD-regimen(Thalidomide,Pirarubicin and Dexamethasone) in Newly Diagnosed Multiple Myeloma,Influence in Concentration of Bone Metabolites,and the Relations With Different Cytogenetic and Molecular Biological Changes Unknown status NCT01249690 Phase 4 Bortezomib,Pirarubicin,Dexamethasone;Thalidomide,Pirarubicin,Dexamethasone
2 A Comparison of Total Contact Casting (TCC-EZ) Using Human Amnion Allograft (AmnioExcel) Versus Total Contact Casting (TCC-EZ) and Standard Wound Care in Treating Diabetic Foot Ulcers (TAD) Unknown status NCT02344329 Phase 4
3 Pharmacokinetics of an Aminoglycoside in Hemodialysis Patients. Terminated NCT01982864 Phase 4 Gentamicin
4 Treatment for Adolescents With Depression Study (TADS) Completed NCT00006286 Phase 3 Fluoxetine
5 A Phase II Clinical Trial Of Thalidomide, Adramycin And Dexamethasone (TAD) As Initial Therapy For The Treatment Of Multiple Myeloma Completed NCT00008242 Phase 2 dexamethasone;doxorubicin hydrochloride;thalidomide
6 Tumescent Antibiotic Delivery: Pharmacokinetic Evidence for Improved Surgical Site Infection Prevention Completed NCT01046981 Phase 1
7 Slipping Rib Syndrome: A Clinical Entity to Consider in Chest Pain Completed NCT04226638
8 Three Dimensional Movement Analysis of Maxillary Impacted Canine Using TADs: a Randomized Clinical Trial Completed NCT01717417
9 Utilization of the TAD Device for Dispensing Pain Medications in Hospice Patients Completed NCT03940534
10 A Prospective, Multicenter, Registry Trial to Evaluate Utilization Frequency and Feasibility of Targeted Axillary Dissection (TAD) After Needle Biopsy and Clip Placement in Early Breast Cancer With Clinically Affected Lymph Nodes Completed NCT03102307
11 Information Technology Enabled Treatment of Adolescent Depression Completed NCT01582581
12 Evaluation of the Efficacy of One-jaw Versus Tow-jaw Mechanics for Mini-implants Anchored Total-maxillary-arch-distalization in the Treatment of Class II Division 1 Malocclusion A Randomized Controlled Trial Recruiting NCT04814173
13 Application of Virtual Mandibular Position in Temporomandibular Jont Reconstruction With Costochondral Graft in Children Jaw Deformity. Recruiting NCT03845088
14 Improving Intramedullary Nailing of Proximal Femoral Fractures Through a Navigation Assisted Technique: a Double Blinded Randomized Control Trial Recruiting NCT04494672
15 Effects of Insoles in Patients With Rheumatoid Arthritis Through Measurement of Quality of Life and Physical Activity: Randomized Controlled Trial. Recruiting NCT03170947
16 Single Palatal Temporary Anchorage Device for Anterior Open Bite: a Randomized Clinical Trial Not yet recruiting NCT04419805
17 CONFORM-TAD- A Post-market Clinical Follow-up Study in Patients With Complicated Acute, Subacute or Chronic Type B Aortic Dissection With Double Lumen Treated With the E-nya Thoracic Stent Graft System Not yet recruiting NCT04378361
18 Sentinel Node Biopsy and Targeted Axillary Dissection in Node-Positive Breast Cancer Patients With Clinically Negative Axilla Not yet recruiting NCT04671511

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, Lung, Bone, Kidney, Breast

Publications for Tietz Albinism-Deafness Syndrome

Articles related to Tietz Albinism-Deafness Syndrome:

(show all 32)
# Title Authors PMID Year
1
Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. 54 61 6 57
18510545 2008
2
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. 57 6 61 54
10851256 2000
3
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). 61 57 6 54
9546825 1998
4
The mutational spectrum in Waardenburg syndrome. 57 6
8589691 1995
5
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. 57 6
13985019 1963
6
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 61 6
23787126 2013
7
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 6
27889061 2016
8
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 6
27473757 2016
9
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 6
23167872 2013
10
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 6
22080950 2011
11
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 6
22012259 2011
12
Review and update of mutations causing Waardenburg syndrome. 6
20127975 2010
13
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. 6
8659547 1996
14
Pigmentary disorders in association with congenital deafness. 57
6018993 1967
15
MITF: a stream flowing for pigment cells. 54 61
10952390 2000
16
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. 54 61
10790403 2000
17
A cascade of genes related to Waardenburg syndrome. 61 54
10536986 1999
18
MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome. 61
33506017 2021
19
Are dental anomalies associated with Tietz syndrome? 61
33459262 2020
20
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism. 61
31284637 2019
21
Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations. 61
27604145 2016
22
[Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome]. 61
26252099 2015
23
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes]. 61
24379252 2013
24
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. 61
23512835 2013
25
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. 61
23020089 2013
26
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. 61
22258527 2012
27
A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. 61
22174915 2011
28
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. 61
20485200 2010
29
[Hereditary pigmentary disorders]. 61
20556350 2010
30
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. 61
19938076 2009
31
[Diagnosis and treatment of Tietze's syndrome]. 61
1154605 1975
32
[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 121)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MITF NM_001354604.2(MITF):c.709dup (p.Tyr237fs) Duplication Pathogenic 864796 GRCh37: 3:69990427-69990428
GRCh38: 3:69941276-69941277
2 MITF NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) SNV Pathogenic 29792 rs149617956 GRCh37: 3:70014091-70014091
GRCh38: 3:69964940-69964940
3 MITF NM_001354604.2(MITF):c.951C>G (p.Asn317Lys) SNV Pathogenic 14275 rs104893745 GRCh37: 3:70001033-70001033
GRCh38: 3:69951882-69951882
4 MITF NM_001354604.2(MITF):c.964_966AGA[2] (p.Arg324del) Microsatellite Pathogenic 14272 rs1553704814 GRCh37: 3:70005612-70005614
GRCh38: 3:69956461-69956463
5 MITF NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) SNV Likely pathogenic 545117 rs1559751245 GRCh37: 3:70008431-70008431
GRCh38: 3:69959280-69959280
6 MITF NM_001354604.2(MITF):c.925G>A (p.Glu309Lys) SNV Likely pathogenic 545452 rs1553704086 GRCh37: 3:70001007-70001007
GRCh38: 3:69951856-69951856
7 MITF NM_001354604.2(MITF):c.956-2A>G SNV Likely pathogenic 849660 GRCh37: 3:70005604-70005604
GRCh38: 3:69956453-69956453
8 MITF NM_001354604.2(MITF):c.579del (p.Glu194fs) Deletion Likely pathogenic 801981 rs1576005420 GRCh37: 3:69987193-69987193
GRCh38: 3:69938042-69938042
9 LOC107988030 , MITF NM_001354604.2(MITF):c.355-1219G>A SNV Uncertain significance 902025 GRCh37: 3:69985754-69985754
GRCh38: 3:69936603-69936603
10 MITF NM_001354604.2(MITF):c.531A>G (p.Ala177=) SNV Uncertain significance 902914 GRCh37: 3:69987149-69987149
GRCh38: 3:69937998-69937998
11 MITF NM_001354604.2(MITF):c.104+24188C>G SNV Uncertain significance 932038 GRCh37: 3:69813040-69813040
GRCh38: 3:69763889-69763889
12 MITF NM_001354604.2(MITF):c.*2952T>C SNV Uncertain significance 902408 GRCh37: 3:70017351-70017351
GRCh38: 3:69968200-69968200
13 MITF NM_001354604.2(MITF):c.*1893C>T SNV Uncertain significance 346527 rs886058815 GRCh37: 3:70016292-70016292
GRCh38: 3:69967141-69967141
14 MITF NM_001354604.2(MITF):c.*574_*576dup Duplication Uncertain significance 346517 rs59665466 GRCh37: 3:70014965-70014966
GRCh38: 3:69965814-69965815
15 MITF NM_001354604.2(MITF):c.1320A>T (p.Ala440=) SNV Uncertain significance 346500 rs886058808 GRCh37: 3:70014138-70014138
GRCh38: 3:69964987-69964987
16 MITF NM_001354604.2(MITF):c.*421G>T SNV Uncertain significance 346512 rs886058812 GRCh37: 3:70014820-70014820
GRCh38: 3:69965669-69965669
17 MITF NM_001354604.2(MITF):c.*2077G>T SNV Uncertain significance 346532 rs886058816 GRCh37: 3:70016476-70016476
GRCh38: 3:69967325-69967325
18 MITF NM_001354604.2(MITF):c.505A>G (p.Met169Val) SNV Uncertain significance 346494 rs143224466 GRCh37: 3:69987123-69987123
GRCh38: 3:69937972-69937972
19 MITF NM_001354604.2(MITF):c.*576dup Duplication Uncertain significance 346515 rs59665466 GRCh37: 3:70014965-70014966
GRCh38: 3:69965814-69965815
20 MITF NM_001354604.2(MITF):c.*2160del Deletion Uncertain significance 346535 rs565618309 GRCh37: 3:70016559-70016559
GRCh38: 3:69967408-69967408
21 MITF NM_001354604.2(MITF):c.*2588G>A SNV Uncertain significance 346540 rs559658244 GRCh37: 3:70016987-70016987
GRCh38: 3:69967836-69967836
22 MITF NM_001354604.2(MITF):c.*662T>C SNV Uncertain significance 346518 rs886058813 GRCh37: 3:70015061-70015061
GRCh38: 3:69965910-69965910
23 MITF NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) SNV Uncertain significance 346498 rs201351378 GRCh37: 3:70014077-70014077
GRCh38: 3:69964926-69964926
24 MITF NM_001354604.2(MITF):c.*23C>T SNV Uncertain significance 346503 rs746168511 GRCh37: 3:70014422-70014422
GRCh38: 3:69965271-69965271
25 MITF NM_001354604.2(MITF):c.*556T>C SNV Uncertain significance 346514 rs573364713 GRCh37: 3:70014955-70014955
GRCh38: 3:69965804-69965804
26 MITF NM_001354604.2(MITF):c.*857C>T SNV Uncertain significance 899453 GRCh37: 3:70015256-70015256
GRCh38: 3:69966105-69966105
27 MITF NM_001354604.2(MITF):c.861C>G (p.Asn287Lys) SNV Uncertain significance 900358 GRCh37: 3:69998300-69998300
GRCh38: 3:69949149-69949149
28 MITF NM_001354604.2(MITF):c.621C>T (p.Ser207=) SNV Uncertain significance 900357 GRCh37: 3:69988287-69988287
GRCh38: 3:69939136-69939136
29 MITF NM_001354604.2(MITF):c.*2632C>T SNV Uncertain significance 899587 GRCh37: 3:70017031-70017031
GRCh38: 3:69967880-69967880
30 MITF NM_001354604.2(MITF):c.*413_*416del Deletion Uncertain significance 346510 rs886058810 GRCh37: 3:70014805-70014808
GRCh38: 3:69965654-69965657
31 MITF NM_001354604.2(MITF):c.*1570C>T SNV Uncertain significance 346525 rs528276006 GRCh37: 3:70015969-70015969
GRCh38: 3:69966818-69966818
32 MITF NM_001354604.2(MITF):c.*2918C>G SNV Uncertain significance 902406 GRCh37: 3:70017317-70017317
GRCh38: 3:69968166-69968166
33 MITF NM_001354604.2(MITF):c.*2892C>T SNV Uncertain significance 902405 GRCh37: 3:70017291-70017291
GRCh38: 3:69968140-69968140
34 MITF NM_001354604.2(MITF):c.*2294A>G SNV Uncertain significance 902331 GRCh37: 3:70016693-70016693
GRCh38: 3:69967542-69967542
35 MITF NM_001354604.2(MITF):c.*2275G>A SNV Uncertain significance 902330 GRCh37: 3:70016674-70016674
GRCh38: 3:69967523-69967523
36 MITF NM_001354604.2(MITF):c.*2160A>G SNV Uncertain significance 902329 GRCh37: 3:70016559-70016559
GRCh38: 3:69967408-69967408
37 MITF NM_001354604.2(MITF):c.*1380A>G SNV Uncertain significance 902268 GRCh37: 3:70015779-70015779
GRCh38: 3:69966628-69966628
38 MITF NM_001354604.2(MITF):c.*581G>A SNV Uncertain significance 902195 GRCh37: 3:70014980-70014980
GRCh38: 3:69965829-69965829
39 MITF NM_001354604.2(MITF):c.*524T>G SNV Uncertain significance 902194 GRCh37: 3:70014923-70014923
GRCh38: 3:69965772-69965772
40 MITF NM_001354604.2(MITF):c.*486G>A SNV Uncertain significance 902193 GRCh37: 3:70014885-70014885
GRCh38: 3:69965734-69965734
41 MITF NM_001354604.2(MITF):c.1179+14G>A SNV Uncertain significance 902087 GRCh37: 3:70008585-70008585
GRCh38: 3:69959434-69959434
42 MITF NM_001354604.2(MITF):c.*1120C>A SNV Uncertain significance 900581 GRCh37: 3:70015519-70015519
GRCh38: 3:69966368-69966368
43 MITF NM_001354604.2(MITF):c.*442A>G SNV Uncertain significance 900532 GRCh37: 3:70014841-70014841
GRCh38: 3:69965690-69965690
44 MITF NM_001354604.2(MITF):c.1150G>T (p.Ala384Ser) SNV Uncertain significance 930394 GRCh37: 3:70008542-70008542
GRCh38: 3:69959391-69959391
45 MITF NM_001354604.2(MITF):c.*3060C>T SNV Uncertain significance 903264 GRCh37: 3:70017459-70017459
GRCh38: 3:69968308-69968308
46 MITF NM_001354604.2(MITF):c.*2552A>G SNV Uncertain significance 903193 GRCh37: 3:70016951-70016951
GRCh38: 3:69967800-69967800
47 MITF NM_001354604.2(MITF):c.*1770C>T SNV Uncertain significance 903137 GRCh37: 3:70016169-70016169
GRCh38: 3:69967018-69967018
48 MITF NM_001354604.2(MITF):c.*1666T>G SNV Uncertain significance 903136 GRCh37: 3:70016065-70016065
GRCh38: 3:69966914-69966914
49 MITF NM_001354604.2(MITF):c.*1502A>T SNV Uncertain significance 346524 rs766340943 GRCh37: 3:70015901-70015901
GRCh38: 3:69966750-69966750
50 MITF NM_001354604.2(MITF):c.*415_*418AAGA[2] Microsatellite Uncertain significance 346511 rs886058811 GRCh37: 3:70014813-70014816
GRCh38: 3:69965662-69965665

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

72
# 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
12.57 TYRP1 TYR MITF KITLG KIT EDNRB
2
Show member pathways
12.52 KITLG KIT EDNRB EDN3
3
Show member pathways
11.83 SNAI2 MITF KITLG KIT
4 11.56 SOX10 SNAI2 PAX3 MITF DCT
5
Show member pathways
11.48 TYRP1 TYR DCT
6 11.44 TFEC KITLG KIT
7 10.97 SOX10 PAX3 MITF KITLG KIT
8 10.64 KITLG KIT
9 9.62 TYRP1 TYR SLC45A2 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 9.13 TYRP1 TYR DCT
2 melanosome membrane GO:0033162 8.92 TYRP1 TYR SLC45A2 DCT

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 TFEC SOX10 SNAI2 MITF EDNRB
2 positive regulation of MAP kinase activity GO:0043406 9.63 KITLG KIT EDN3
3 neural crest cell migration GO:0001755 9.62 SOX10 KITLG EDNRB EDN3
4 peripheral nervous system development GO:0007422 9.56 SOX10 EDNRB
5 melanin biosynthetic process GO:0042438 9.56 TYRP1 TYR SLC45A2 DCT
6 positive regulation of neuroblast proliferation GO:0002052 9.54 SOX10 DCT
7 vasoconstriction GO:0042310 9.52 EDNRB EDN3
8 embryonic hemopoiesis GO:0035162 9.51 KITLG KIT
9 enteric nervous system development GO:0048484 9.49 SOX10 EDNRB
10 ectopic germ cell programmed cell death GO:0035234 9.48 KITLG KIT
11 developmental pigmentation GO:0048066 9.46 SLC45A2 KIT EDNRB DCT
12 vein smooth muscle contraction GO:0014826 9.43 EDNRB EDN3
13 melanocyte differentiation GO:0030318 9.43 TYRP1 SOX10 MITF KIT EDNRB EDN3
14 response to blue light GO:0009637 9.4 TYR DCT
15 melanin biosynthetic process from tyrosine GO:0006583 9.37 TYR DCT
16 pigmentation GO:0043473 9.17 TYRP1 TYR SNAI2 MITF KIT EDNRB

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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