MCID: HYD050
MIFTS: 18

Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Categories: Rare diseases

Aliases & Classifications for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

MalaCards integrated aliases for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts:

Name: Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 58 54 74
Hec Syndrome 58 77 54 60
Communicating Hydrocephalus, Endocardial Fibroelastosis and Congenital Cataracts 54
Hydrocephalus-Endocardial Fibroelastosis-Cataract Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hec syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
genetic vs. viral


HPO:

33
hydrocephalus, endocardial fibroelastosis, and cataracts:
Clinical modifier death in infancy


Classifications:



Summaries for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2119Disease definitionHEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenitalcataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hydrocephalus, Endocardial Fibroelastosis, and Cataracts, also known as hec syndrome, is related to endocardial fibroelastosis and cataract. Related phenotypes are respiratory insufficiency and polyhydramnios

Wikipedia : 77 HEC syndrome is a syndrome characterized by hydrocephalus, endocardial fibroelastosis and... more...

Description from OMIM: 600559

Related Diseases for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Diseases related to Hydrocephalus, Endocardial Fibroelastosis, and Cataracts via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 endocardial fibroelastosis 10.2
2 cataract 10.2
3 hydrocephalus 10.2

Symptoms & Phenotypes for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Human phenotypes related to Hydrocephalus, Endocardial Fibroelastosis, and Cataracts:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
2 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
3 communicating hydrocephalus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001334
4 endocardial fibroelastosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001706
5 vaginal hydrocele 60 33 hallmark (90%) Very frequent (99-80%) HP:0100673
6 developmental cataract 33 hallmark (90%) HP:0000519
7 arrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0011675
8 cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001638
9 abnormality of the pharynx 60 33 frequent (33%) Frequent (79-30%) HP:0000600
10 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622
11 abnormal pupil morphology 33 frequent (33%) HP:0000615
12 abnormal retinal vascular morphology 33 frequent (33%) HP:0008046
13 abnormality of the retinal vasculature 60 Frequent (79-30%)
14 abnormality of the pupil 60 Frequent (79-30%)
15 congenital cataract 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Misc:
polyhydramnios
infantile death

Eyes:
congenital cataracts

Neuro:
communicating hydrocephalus

Cardiac:
endocardial fibroelastosis (efe)

Clinical features from OMIM:

600559

Drugs & Therapeutics for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Genetic Tests for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Anatomical Context for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Publications for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Articles related to Hydrocephalus, Endocardial Fibroelastosis, and Cataracts:

# Title Authors Year
1
New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome). ( 7747788 )
1995

Variations for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Expression for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Search GEO for disease gene expression data for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts.

Pathways for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

GO Terms for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Sources for Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

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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