MCID: ATL016
MIFTS: 13

Atelencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atelencephaly

MalaCards integrated aliases for Atelencephaly:

Name: Atelencephaly 58
Atelencephalic Microcephaly 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA566852

Summaries for Atelencephaly

MalaCards based summary : Atelencephaly, also known as atelencephalic microcephaly, is related to aprosencephaly/atelencephaly spectrum and aprosencephaly syndrome. An important gene associated with Atelencephaly is SIX3 (SIX Homeobox 3). Affiliated tissues include brain, cortex and retina.

Related Diseases for Atelencephaly

Diseases related to Atelencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 aprosencephaly/atelencephaly spectrum 12.2
2 aprosencephaly syndrome 12.1
3 holoprosencephaly 10.4
4 microcephaly 10.3
5 synostosis 10.2
6 fetal brain disruption sequence 10.2
7 cranial malformation 10.2
8 anencephaly 10.2
9 cryptorchidism, unilateral or bilateral 10.2
10 hypospadias 10.2
11 alobar holoprosencephaly 10.2

Graphical network of the top 20 diseases related to Atelencephaly:



Diseases related to Atelencephaly

Symptoms & Phenotypes for Atelencephaly

Drugs & Therapeutics for Atelencephaly

Search Clinical Trials , NIH Clinical Center for Atelencephaly

Genetic Tests for Atelencephaly

Anatomical Context for Atelencephaly

MalaCards organs/tissues related to Atelencephaly:

40
Brain, Cortex, Retina, Fetal Brain

Publications for Atelencephaly

Articles related to Atelencephaly:

(show all 27)
# Title Authors PMID Year
1
Neuropathology of holoprosencephaly. 61
30182440 2018
2
Prenatal evaluation of atelencephaly. 61
26260203 2016
3
Holoprosencephaly with agenesia of the prosencephalic ventricle. 61
26785373 2015
4
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. 61
25590404 2015
5
Neuropathology of holoprosencephaly. 61
20104606 2010
6
Holoprosencephaly: clinical, anatomic, and molecular dimensions. 61
17001700 2006
7
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. 61
15635066 2005
8
Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? 61
15329833 2004
9
A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. 61
12402000 2002
10
Aprosencephaly: histopathological features of the rudimentary forebrain and retina. 61
11547946 2001
11
The vesicular forebrain (pseudo-aprosencephaly): a missing link in the teratogenetic spectrum of the defective brain anlage and its discrimination from aprosencephaly. 61
10663970 2000
12
[Encephaloclastic atelencephaly]. 61
11043357 2000
13
[Atelencephaly]. 61
11043280 2000
14
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies. 61
9800911 1998
15
Atelencephalic microcephaly: a case report and review of the literature. 61
9667407 1998
16
Atelencephalic aprosencephaly. 61
7822735 1994
17
Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. 61
2683788 1989
18
Atelencephalic microcephaly: craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephaly. 61
3424215 1987
19
Purkinje cell inclusions and 'atelencephaly' in 13q-chromosomal syndrome. 61
3028313 1987
20
Atelencephalic microcephaly in a 21-week human fetus. 61
3764783 1986
21
Etiological heterogeneity in sirenomelia. 61
3725705 1986
22
Seizures in an atelencephalic infant. Is the cortex essential for neonatal seizures? 61
4038097 1985
23
Atelencephalic microcephaly. Counseling severe cerebral dysmorphogenesis. 61
6488665 1984
24
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome. 61
114053 1979
25
Atelencephaly. 61
640252 1978
26
Atelencephaly. 61
913906 1977
27
Atelencephalic microcephaly. 61
870360 1977

Variations for Atelencephaly

Expression for Atelencephaly

Search GEO for disease gene expression data for Atelencephaly.

Pathways for Atelencephaly

GO Terms for Atelencephaly

Sources for Atelencephaly

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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