MCID: LTH051
MIFTS: 7

Lethal Brain and Heart Developmental Defects

Categories: Cardiovascular diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lethal Brain and Heart Developmental Defects

MalaCards integrated aliases for Lethal Brain and Heart Developmental Defects:

Name: Lethal Brain and Heart Developmental Defects 58

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA580933

Summaries for Lethal Brain and Heart Developmental Defects

Orphanet: 58 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.

MalaCards based summary: Lethal Brain and Heart Developmental Defects An important gene associated with Lethal Brain and Heart Developmental Defects is SIRT6 (Sirtuin 6). Affiliated tissues include heart, brain and bone.

Related Diseases for Lethal Brain and Heart Developmental Defects

Symptoms & Phenotypes for Lethal Brain and Heart Developmental Defects

Drugs & Therapeutics for Lethal Brain and Heart Developmental Defects

Search Clinical Trials, NIH Clinical Center for Lethal Brain and Heart Developmental Defects

Genetic Tests for Lethal Brain and Heart Developmental Defects

Anatomical Context for Lethal Brain and Heart Developmental Defects

Organs/tissues related to Lethal Brain and Heart Developmental Defects:

MalaCards : Heart, Brain, Bone

Publications for Lethal Brain and Heart Developmental Defects

Variations for Lethal Brain and Heart Developmental Defects

Expression for Lethal Brain and Heart Developmental Defects

Search GEO for disease gene expression data for Lethal Brain and Heart Developmental Defects.

Pathways for Lethal Brain and Heart Developmental Defects

GO Terms for Lethal Brain and Heart Developmental Defects

Sources for Lethal Brain and Heart Developmental Defects

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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