MCID: LTH040
MIFTS: 5

Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

MalaCards integrated aliases for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome:

Name: Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 58

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA480528

Summaries for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Orphanet: 58 Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.

MalaCards based summary: Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome An important gene associated with Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome is PLAT (Plasminogen Activator, Tissue Type). Affiliated tissues include heart.

Related Diseases for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Symptoms & Phenotypes for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Drugs & Therapeutics for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Search Clinical Trials, NIH Clinical Center for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Genetic Tests for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Anatomical Context for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Organs/tissues related to Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome:

MalaCards : Heart

Publications for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Variations for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Expression for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Search GEO for disease gene expression data for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome.

Pathways for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

GO Terms for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

Sources for Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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