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 56 71
Congenital Claude-Bernard-Horner Syndrome 58
Congenital Horner Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
horner syndrome, congenital:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 143000
ICD10 via Orphanet 33 G90.2
UMLS via Orphanet 72 C1840475
Orphanet 58 ORPHA91413
MedGen 41 C1840475
UMLS 71 C1840475

Summaries for Horner Syndrome, Congenital

OMIM : 56 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 ptosis and horner's syndrome. 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 ptosis 10.2
2 horner's syndrome 10.2
3 anhidrosis 10.2
4 neuroblastoma 10.1
5 heterochromia iridis 9.9
6 migraine with or without aura 1 9.9
7 glaucoma-related pigment dispersion syndrome 9.9
8 cervical neuroblastoma 9.9
9 hemiplegia 9.9
10 enophthalmos 9.9
11 hemicrania continua 9.9
12 headache 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:

31
# Description HPO Frequency HPO Source Accession
1 heterochromia iridis 31 HP:0001100
2 deeply set eye 31 HP:0000490
3 paralysis 31 HP:0003470
4 congenital horner syndrome 31 HP:0006837
5 ipsilateral lack of facial sweating 31 HP:0007451

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye

Publications for Horner Syndrome, Congenital

Articles related to Horner Syndrome, Congenital:

(show all 25)
# Title Authors PMID Year
1
Contralateral rhinorrhea as a feature of infantile Horner's syndrome. 56
14610154 2003
2
Nasal obstruction and Horner's syndrome. 56
7991269 1994
3
Autosomal dominant congenital Horner's syndrome in a Dutch family. 56
1548493 1992
4
Johann Friedrich Horner (1831-1886). 56
3538884 1986
5
Pigment Dispersion Syndrome Mimicking Congenital Horner Syndrome. 61
29329469 2018
6
[Congenital Horner syndrome. Case report]. 61
29333828 2018
7
Anatomic variants in Dandy-Walker complex. 61
29250689 2017
8
Congenital horner syndrome with heterochromia iridis associated with ipsilateral internal carotid artery hypoplasia. 61
25749818 2015
9
Unilateral straight hair and congenital horner syndrome. 61
22622362 2012
10
Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia. 61
19765926 2010
11
[Congenital Horner syndrome]. 61
19246261 2009
12
[Congenital Horner syndrome associated with hypoplasia of the internal carotid artery]. 61
19515324 2009
13
Heterochromia. 61
18725617 2008
14
Unnoticed dysautonomic syndrome of the face: Harlequin syndrome. 61
17569597 2007
15
[Dysgenesis of the carotid artery associated with congenital ipsilateral Horner syndrome]. 61
17228822 2007
16
A case of Horner syndrome with intermittent mydriasis in a patient with hypoplasia of the internal carotid artery. 61
16775289 2006
17
Congenital horner syndrome and hemiplegia secondary to carotid dissection. 61
15825751 2005
18
When the darker eye has the smaller pupil. 61
12825064 2003
19
Congenital Horner syndrome. 61
11279431 2001
20
Congenital horner syndrome: a rare though significant complication of subclavian flap aortoplasty. 61
10917969 2000
21
Pediatric Horner syndrome. 61
10532753 1998
22
Acquired heterochromia with horner syndrome in two adults. 61
1480396 1992
23
Congenital Horner syndrome associated with non-cervical neuroblastoma. 61
1511796 1992
24
Unilateral straight hair in congenital Horner syndrome due to stellate ganglion tumor. 61
6847153 1983
25
[Congenital Horner syndrome]. 61
6350758 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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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