MCID: TTZ003
MIFTS: 41

Tietz Albinism-Deafness Syndrome

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 54 12 50 25 71 13
Tietz Syndrome 12 50 24 25 56 71 29 52 14 69
Tietze's Syndrome 12 50 42 14 69
Hypopigmentation/deafness of Tietz 12 50 25 71
Albinism-Deafness of Tietz 12 50 25 71
Hypopigmentation-Deafness Syndrome 25 56
Costochondral Junction Syndrome 12 50
Tietze Syndrome 12 50
Albinism and Complete Nerve Deafness 25
Chondropathia Tuberosa 50
Slipping Rib Syndrome 12
Costalchondritis 12
Tietze's Disease 12
Tietz's Syndrome 25
Costochondritis 12
Tads 71

Characteristics:

Orphanet epidemiological data:

56
tietz syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Miscellaneous:
allelic to waardenburg syndrome, type iia

Inheritance:
autosomal dominant


HPO:

32
tietz albinism-deafness syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 103500
Disease Ontology 12 DOID:0090002 DOID:14021
ICD10 33 M94.0
ICD9CM 35 733.6
Orphanet 56 ORPHA42665
MESH via Orphanet 43 C536919
UMLS via Orphanet 70 C0391816
MedGen 40 C0391816
UMLS 69 C0040213

Summaries for Tietz Albinism-Deafness Syndrome

NIH Rare Diseases : 50 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. last updated: 11/19/2014

MalaCards based summary : Tietz Albinism-Deafness Syndrome, also known as tietz syndrome, is related to achondrogenesis, type ii or hypochondrogenesis and grover's disease, and has symptoms including white eyelashes, blue irides and hypopigmentation of the fundus. An important gene associated with Tietz Albinism-Deafness Syndrome is MITF (Melanogenesis Associated Transcription Factor), and among its related pathways/superpathways are Neural Crest Differentiation and Regulation of retinoblastoma protein. Affiliated tissues include skin, eye and bone, and related phenotypes are behavior/neurological and embryo

UniProtKB/Swiss-Prot : 71 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 : 72 Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an... 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 55)
id Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ii or hypochondrogenesis 10.9
2 grover's disease 10.8
3 deafness, mitochondrial, modifier of 10.3 MITF SOX10
4 ankylosis 10.2
5 multilocular clear cell renal cell carcinoma 10.1 MITF PAX3
6 wolffian duct adenocarcinoma 10.1 EDN3 SOX10
7 periventricular nodular heterotopia 3 10.1 MITF PAX3
8 ascaridiasis 10.0 PAX3 SOX10
9 spinal meningioma 10.0 EDN3 SOX10
10 commad syndrome 10.0 MITF TYR
11 sebaceous basal cell carcinoma 10.0 MITF TYR
12 schnitzler syndrome 10.0 MITF TYR
13 craniofacial microsomia 9.9
14 acute hydrops keratoconus 9.9 MITF TYR
15 epidermolysis bullosa simplex-mcr 9.9 MITF TYR
16 autism susceptibility 16 9.9 MITF TYR
17 rh deficiency syndrome 9.9 MITF TYR
18 mixed lacrimal gland cancer 9.9 PAX3 SOX10
19 root resorption 9.9
20 gangliosidosis gm2 9.8 MITF TYR
21 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 MITF PAX3
22 heavy chain disease 9.8 MITF TYR
23 hemifacial microsomia 9.8
24 microtia 9.8
25 gigantism 9.8
26 wallerian degeneration 9.8 EDN3 MITF SOX10
27 diabetes mellitus, noninsulin-dependent, 5 9.8 EDN3 MITF SOX10
28 autoinflammation with arthritis and dyskeratosis 9.7 MITF TYR
29 albinism-deafness syndrome 9.7
30 microphthalmia 9.7
31 albinism 9.7
32 collagenopathy, types ii and xi 9.7 MITF TYR
33 oral leukoplakia 9.6
34 synovial chondromatosis 9.6
35 arthritis 9.6
36 ameloblastoma 9.6
37 venous thoracic outlet syndrome 9.6
38 fibrous dysplasia 9.6
39 enophthalmos 9.6
40 melanotic neuroectodermal tumor 9.6
41 thoracic outlet syndrome 9.6
42 asthma 9.6
43 anencephaly 9.6
44 leukoplakia 9.6
45 atrophic gastritis 9.5 MITF TYR
46 fallopian tube serous papilloma 9.5 MITF SOX10 TYR
47 thyroid angiosarcoma 9.5 MITF SOX10 TYR
48 brown-vialetto-van laere syndrome 9.3 MITF TYR
49 agammaglobulinemia 4 9.2 PAX3 SOX10 TYR
50 waardenburg syndrome, type 3 9.2 EDN3 MITF PAX3 SOX10

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


Esophagitis Hypertension, Essential
Intermediate Coronary Syndrome Ischemic Heart Disease

Graphical network of the top 20 diseases related to Tietz Albinism-Deafness Syndrome:



Diseases related to Tietz Albinism-Deafness Syndrome

Symptoms & Phenotypes for Tietz Albinism-Deafness Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Skin Nails & Hair- Skin:
fair skin

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

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


Clinical features from OMIM:

103500

Human phenotypes related to Tietz Albinism-Deafness Syndrome:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 white eyelashes 32 HP:0002227
2 blue irides 32 HP:0000635
3 hypopigmentation of the fundus 32 HP:0007894
4 generalized hypopigmentation 32 HP:0007513
5 white eyebrow 32 HP:0002226
6 congenital sensorineural hearing impairment 32 HP:0008527
7 bilateral sensorineural hearing impairment 32 HP:0008619

MGI Mouse Phenotypes related to Tietz Albinism-Deafness Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 EDN3 MITF PAX3 SOX10 TYR
2 embryo MP:0005380 9.72 EDN3 MITF PAX3 SOX10 TYR
3 integument MP:0010771 9.65 SOX10 TYR EDN3 MITF PAX3
4 limbs/digits/tail MP:0005371 9.46 MITF PAX3 SOX10 TYR
5 nervous system MP:0003631 9.35 EDN3 MITF PAX3 SOX10 TYR
6 pigmentation MP:0001186 9.02 EDN3 MITF PAX3 SOX10 TYR

Drugs & Therapeutics for Tietz Albinism-Deafness Syndrome

Search Clinical Trials , NIH Clinical Center for Tietz Albinism-Deafness Syndrome

Cochrane evidence based reviews: tietze's syndrome

Genetic Tests for Tietz Albinism-Deafness Syndrome

Genetic tests related to Tietz Albinism-Deafness Syndrome:

id Genetic test Affiliating Genes
1 Tietz Syndrome 29 24 MITF

Anatomical Context for Tietz Albinism-Deafness Syndrome

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

39
Skin, Eye, Bone

Publications for Tietz Albinism-Deafness Syndrome

Variations for Tietz Albinism-Deafness Syndrome

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

71
id Symbol AA change Variation ID SNP ID
1 MITF p.Asn317Lys VAR_010298 rs104893745

ClinVar genetic disease variations for Tietz Albinism-Deafness Syndrome:

6
id 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_198159.2(MITF): c.933C> G (p.Asn311Lys) single nucleotide variant Pathogenic rs104893745 GRCh37 Chromosome 3, 70001033: 70001033

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 GeneCards Suite gene sharing:

id 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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.43 MITF PAX3 SOX10
2 regulation of transcription from RNA polymerase II promoter GO:0006357 9.33 MITF PAX3 SOX10
3 neural crest cell migration GO:0001755 8.96 EDN3 SOX10
4 melanocyte differentiation GO:0030318 8.8 EDN3 MITF SOX10

Sources for Tietz Albinism-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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