MCID: HTR005
MIFTS: 22

Heterochromia Iridis

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Heterochromia Iridis

MalaCards integrated aliases for Heterochromia Iridis:

Name: Heterochromia Iridis 57 20 6
Pigmentary Abnormality of the Anterior Segment of the Eye 20
Asymmetry in the Pigmentation of the Irides 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
heterochromia iridis:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

OMIM® 57 142500
MedGen 41 C0423318
SNOMED-CT via HPO 68 247033008 263681008

Summaries for Heterochromia Iridis

GARD : 20 Heterochromia iridis is characterized by color differences of the iris (the colored part of the eye), either between the eyes or within one eye. In people with complete heterochromia, the iris of one eye is a different color than the iris of the other eye. Segmental heterochromia occurs when areas of the same iris are different in color. Most cases of heterochromia iridis occur sporadically and are not associated with any other symptoms or problems. Rarely, heterochromia iridis is part of a congenital (present from birth) syndrome such as Waardenburg syndrome, Sturge-Weber syndrome, Parry-Romberg syndrome, or Horner's syndrome. Treatment for people with heterochromia iridis may only be needed if there is an underlying syndrome causing health problems.

MalaCards based summary : Heterochromia Iridis, also known as pigmentary abnormality of the anterior segment of the eye, is related to waardenburg syndrome, type 2e and horner's syndrome. An important gene associated with Heterochromia Iridis is MITF (Melanocyte Inducing Transcription Factor). Affiliated tissues include eye, skin and retina, and related phenotypes are heterochromia iridis and asymmetry of iris pigmentation

More information from OMIM: 142500

Related Diseases for Heterochromia Iridis

Diseases related to Heterochromia Iridis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 2e 11.2
2 horner's syndrome 10.4
3 ptosis 10.3
4 branchiootic syndrome 1 10.2
5 waardenburg's syndrome 10.2
6 horner syndrome, congenital 10.1
7 sturge-weber syndrome 10.1
8 lipoid congenital adrenal hyperplasia 10.1
9 retinitis pigmentosa 10.1
10 intraocular pressure quantitative trait locus 10.1
11 familial woolly hair syndrome 10.1
12 neuroretinitis 10.1
13 anhidrosis 10.1
14 hypoparathyroidism 10.1
15 gangliocytoma 10.1
16 neurilemmoma 10.1
17 retinitis 10.1
18 systemic scleroderma 10.1
19 mutism 10.1
20 ganglioneuroma 10.1
21 cataract 10.1
22 hypoglycemia 10.1
23 linear scleroderma 10.1
24 weber syndrome 10.1
25 paresthesia 10.1
26 hypopigmentation of the skin 10.1

Graphical network of the top 20 diseases related to Heterochromia Iridis:



Diseases related to Heterochromia Iridis

Symptoms & Phenotypes for Heterochromia Iridis

Human phenotypes related to Heterochromia Iridis:

31
# Description HPO Frequency HPO Source Accession
1 heterochromia iridis 31 HP:0001100
2 asymmetry of iris pigmentation 31 HP:0200064

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
asymmetry of iris pigmentation

Clinical features from OMIM®:

142500 (Updated 05-Apr-2021)

Drugs & Therapeutics for Heterochromia Iridis

Search Clinical Trials , NIH Clinical Center for Heterochromia Iridis

Genetic Tests for Heterochromia Iridis

Anatomical Context for Heterochromia Iridis

MalaCards organs/tissues related to Heterochromia Iridis:

40
Eye, Skin, Retina

Publications for Heterochromia Iridis

Articles related to Heterochromia Iridis:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Iris coloboma with iris heterochromia: a common association. 57
11074823 2000
2
Hypochromia iridis in acquired Horner's syndrome. 57
1602322 1992
3
Development and significance of heterochromia of the iris. 57
5797351 1969
4
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report. 61
33557787 2021
5
Ophthalmic associations of oculodermal melanocytosis in a tertiary eye hospital in South Asia. 61
33644684 2021
6
Oral manifestation of Waardenburg syndrome: a case report and review of the literature. 61
33299596 2020
7
Heterochromia iridis: More than beautiful eyes. 61
32144119 2020
8
[Identification of a novel mutation of SOX10 gene and analysis of the phenotype]. 61
33210885 2020
9
Genome-wide association studies for iris pigmentation and heterochromia patterns in Large White pigs. 61
32232994 2020
10
The Eye Color Experiment: From Berlin to Auschwitz and Back. 61
32286023 2020
11
A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report. 61
31666050 2019
12
The Effect of SLT Laser Application on Iris to Treat Sectorial Heterochromia: A Promising Technique. 61
28719537 2018
13
Multiple ocular developmental defects in four closely related alpacas. 61
29493862 2018
14
Artistic Iris: A Case of Congenital Sectoral Heterochromia Iridis. 61
30090196 2018
15
Birth palsy in congenital varicella syndrome: A lesson in anatomy. 61
30505098 2018
16
Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1. 61
28502583 2018
17
Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome. 61
29630160 2018
18
A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients. 61
30234069 2018
19
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. 61
29050284 2017
20
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis. 61
28390600 2017
21
[Clinical and genetic investigation of families with Waardenburg syndrome type 2]. 61
29798271 2016
22
Traumatic Cataract and Heterochromia Iridis. 61
27631667 2016
23
Ophthalmic pathologies in female subjects with bilateralcongenital sensorineural hearing loss. 61
27511347 2016
24
Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations. 61
26275939 2015
25
A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. 61
26279250 2015
26
A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association? 61
26622156 2015
27
Congenital horner syndrome with heterochromia iridis associated with ipsilateral internal carotid artery hypoplasia. 61
25749818 2015
28
Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10. 61
24715709 2014
29
Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome. 61
24582978 2014
30
[Heterochromia iridis, congenital deafness and skin pigmentary abnormalities: Waardenburg syndrome]. 61
24029453 2014
31
Cochlear implantation outcomes in children with Waardenburg syndrome. 61
22159916 2012
32
Cantu syndrome and lymphoedema. 61
20890180 2011
33
Heterochromia iridis and pertinent clinical findings in patients with glaucoma associated with Sturge-Weber syndrome. 61
20210282 2010
34
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. 61
20478267 2010
35
Heterochromia Iridis in congenital Horner's syndrome. 61
20375515 2010
36
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin. 61
20199465 2009
37
Pachyonychia congenita with unusual features. 61
19887695 2009
38
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 61
18424413 2008
39
Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review. 61
18792389 2006
40
Corneal injury by bee sting with retained stinger--a case report. 61
17128856 2006
41
Bilateral Duane syndrome and bilateral aniridia. 61
16814183 2006
42
Hyperpigmented patch associated to heterochromia iridis. 61
16354268 2005
43
Cafe au lait macule associated with heterochromia iridis. 61
15804313 2005
44
Heterochromia iridis with primary hypoparathyroidism. 61
15636313 2004
45
When the darker eye has the smaller pupil. 61
12825064 2003
46
Diffuse iris melanoma: a report of 25 cases. 61
12153810 2002
47
Iris mammillations in ocular melanocytosis. 61
12366342 2001
48
"Eyes" on the thrones: imperial ophthalmologic nicknames. 61
10466590 1999
49
Unilateral pigmentary degeneration of the retina associated with heterochromia iridis. 61
9865626 1998
50
Heterochromia iridis in water buffaloes (Bubalus bubalis). 61
11397231 1998

Variations for Heterochromia Iridis

ClinVar genetic disease variations for Heterochromia Iridis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MITF NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) SNV Pathogenic 14276 rs104893746 GRCh37: 3:70005611-70005611
GRCh38: 3:69956460-69956460

Expression for Heterochromia Iridis

Search GEO for disease gene expression data for Heterochromia Iridis.

Pathways for Heterochromia Iridis

GO Terms for Heterochromia Iridis

Sources for Heterochromia Iridis

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....