MCID: HRN024
MIFTS: 21

Horner Syndrome, Congenital

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Horner Syndrome, Congenital

MalaCards integrated aliases for Horner Syndrome, Congenital:

Name: Horner Syndrome, Congenital 58 74
Congenital Claude-Bernard-Horner Syndrome 60
Congenital Horner Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
horner syndrome, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 143000
ICD10 via Orphanet 35 G90.2
UMLS via Orphanet 75 C1840475
Orphanet 60 ORPHA91413
MedGen 43 C1840475
UMLS 74 C1840475

Summaries for Horner Syndrome, Congenital

OMIM : 58 Horner syndrome, resulting from unilateral paralysis of the cervical sympathetics, comprises the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis. Iris heterochromia may also be present (Takanashi et al., 2003). (143000)

MalaCards based summary : Horner Syndrome, Congenital, also known as congenital claude-bernard-horner syndrome, is related to horner's syndrome and heterochromia iridis. Affiliated tissues include eye, and related phenotypes are heterochromia iridis and deeply set eye

Related Diseases for Horner Syndrome, Congenital

Diseases in the Horner's Syndrome family:

Horner Syndrome, Congenital

Diseases related to Horner Syndrome, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 horner's syndrome 10.1
2 heterochromia iridis 9.9
3 glaucoma-related pigment dispersion syndrome 9.9
4 cervical neuroblastoma 9.9
5 hemiplegia 9.9

Graphical network of the top 20 diseases related to Horner Syndrome, Congenital:



Diseases related to Horner Syndrome, Congenital

Symptoms & Phenotypes for Horner Syndrome, Congenital

Human phenotypes related to Horner Syndrome, Congenital:

33
# Description HPO Frequency HPO Source Accession
1 heterochromia iridis 33 HP:0001100
2 deeply set eye 33 HP:0000490
3 paralysis 33 HP:0003470
4 congenital horner syndrome 33 HP:0006837
5 ipsilateral lack of facial sweating 33 HP:0007451

Symptoms via clinical synopsis from OMIM:

58
Eyes:
heterochromia iridis
enophthalmos
upper lid ptosis
small pupil

Skin:
ipsilateral lack of facial sweating

Neuro:
congenital horner syndrome
unilateral cervical sympathetic paralysis

Clinical features from OMIM:

143000

Drugs & Therapeutics for Horner Syndrome, Congenital

Search Clinical Trials , NIH Clinical Center for Horner Syndrome, Congenital

Genetic Tests for Horner Syndrome, Congenital

Anatomical Context for Horner Syndrome, Congenital

MalaCards organs/tissues related to Horner Syndrome, Congenital:

42
Eye

Publications for Horner Syndrome, Congenital

Articles related to Horner Syndrome, Congenital:

# Title Authors Year
1
Pigment Dispersion Syndrome Mimicking Congenital Horner Syndrome. ( 29329469 )
2018
2
Congenital horner syndrome with heterochromia iridis associated with ipsilateral internal carotid artery hypoplasia. ( 25749818 )
2015
3
Unilateral straight hair and congenital horner syndrome. ( 22622362 )
2012
4
Congenital horner syndrome and hemiplegia secondary to carotid dissection. ( 15825751 )
2005
5
Congenital Horner syndrome. ( 11279431 )
2001
6
Congenital horner syndrome: a rare though significant complication of subclavian flap aortoplasty. ( 10917969 )
2000
7
Congenital Horner syndrome associated with non-cervical neuroblastoma. ( 1511796 )
1992
8
Unilateral straight hair in congenital Horner syndrome due to stellate ganglion tumor. ( 6847153 )
1983

Variations for Horner Syndrome, Congenital

Expression for Horner Syndrome, Congenital

Search GEO for disease gene expression data for Horner Syndrome, Congenital.

Pathways for Horner Syndrome, Congenital

GO Terms for Horner Syndrome, Congenital

Sources for Horner Syndrome, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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