Aliases & Classifications for Heterochromia Iridis

MalaCards integrated aliases for Heterochromia Iridis:

Name: Heterochromia Iridis 57 53 29 6
Pigmentary Abnormality of the Anterior Segment of the Eye 53
Asymmetry in the Pigmentation of the Irides 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
heterochromia iridis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 142500
MedGen 42 C0423318
SNOMED-CT via HPO 69 263681008 247033008

Summaries for Heterochromia Iridis

NIH Rare Diseases : 53 Heterochromia iridis is a condition characterized by abnormalities of the iris (the colored part of the eye). In people affected by 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 the condition generally targets the underlying cause and/or any associated symptoms (if present).

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 (Melanogenesis Associated Transcription Factor). Affiliated tissues include eye, skin and retina, and related phenotypes are heterochromia iridis and asymmetry of iris pigmentation

Description 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 14)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 2e 11.2
2 horner's syndrome 10.2
3 waardenburg's syndrome 10.0
4 type i 10.0
5 weber syndrome 10.0
6 woolly hair syndrome 10.0
7 horner syndrome, congenital 10.0
8 sturge-weber syndrome 10.0
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
10 cataract 10.0
11 hypoparathyroidism 10.0
12 cervicitis 10.0
13 neurilemmoma 10.0
14 ganglioneuroma 10.0

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



Diseases related to Heterochromia Iridis

Symptoms & Phenotypes for Heterochromia Iridis

Symptoms via clinical synopsis from OMIM:

57
Eyes:
asymmetry of iris pigmentation


Clinical features from OMIM:

142500

Human phenotypes related to Heterochromia Iridis:

32
# Description HPO Frequency HPO Source Accession
1 heterochromia iridis 32 HP:0001100
2 asymmetry of iris pigmentation 32 HP:0200064

Drugs & Therapeutics for Heterochromia Iridis

Search Clinical Trials , NIH Clinical Center for Heterochromia Iridis

Genetic Tests for Heterochromia Iridis

Genetic tests related to Heterochromia Iridis:

# Genetic test Affiliating Genes
1 Heterochromia Iridis 29

Anatomical Context for Heterochromia Iridis

MalaCards organs/tissues related to Heterochromia Iridis:

41
Eye, Skin, Retina

Publications for Heterochromia Iridis

Articles related to Heterochromia Iridis:

(show all 21)
# Title Authors Year
1
Traumatic Cataract and Heterochromia Iridis. ( 27631667 )
2016
2
White hair, heterochromia iridis, and hearing loss. ( 27185447 )
2016
3
Congenital horner syndrome with heterochromia iridis associated with ipsilateral internal carotid artery hypoplasia. ( 25749818 )
2015
4
A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association? ( 26622156 )
2015
5
Heterochromia Iridis in congenital Horner's syndrome. ( 20375515 )
2010
6
Heterochromia iridis and pertinent clinical findings in patients with glaucoma associated with Sturge-Weber syndrome. ( 20210282 )
2010
7
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin. ( 20199465 )
2009
8
Hyperpigmented patch associated to heterochromia iridis. ( 16354268 )
2005
9
Cafe au lait macule associated with heterochromia iridis. ( 15804313 )
2005
10
Heterochromia iridis with primary hypoparathyroidism. ( 15636313 )
2004
11
Heterochromia iridis in water buffaloes (Bubalus bubalis). ( 11397231 )
1998
12
Unilateral pigmentary degeneration of the retina associated with heterochromia iridis. ( 9865626 )
1998
13
Heterochromia iridis and Horner's syndrome due to paravertebral neurilemmoma. ( 6823113 )
1983
14
Periorbital scleroderma associated with heterochromia iridis. ( 7446673 )
1980
15
Ganglioneuroma, heterochromia iridis, and Horner's syndrome. ( 512808 )
1979
16
Pupillary autonomic functions in heterochromia iridis. ( 4696022 )
1973
17
Fine structure of the iris of dogs manifesting heterochromia iridis. ( 4973292 )
1968
18
HETEROCHROMIA IRIDIS WITH SPECIAL CONSIDERATION OF ITS RELATION TO CYCLITIC DISEASE. ( 14310060 )
1965
19
A pedigree of binocular heterochromia iridis associated with other anomalies (Waardenburg-Klein syndrome). ( 5849255 )
1965
20
A Consideration of the Causes of Heterochromia Iridis, with Special Reference to a Paralysis of the Cervical Sympathetic. ( 16692446 )
1918
21
Heterochromia Iridis, Heterochromic Cyclitis, and Allied Conditions. ( 16692422 )
1917

Variations for Heterochromia Iridis

ClinVar genetic disease variations for Heterochromia Iridis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_198159.2(MITF): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs104893746 GRCh37 Chromosome 3, 70005611: 70005611
2 MITF NM_198159.2(MITF): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs104893746 GRCh38 Chromosome 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 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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