MCID: XKP001
MIFTS: 11

Xk Aprosencephaly

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Xk Aprosencephaly

MalaCards integrated aliases for Xk Aprosencephaly:

Name: Xk Aprosencephaly 50 29 69
Aprosencephaly-Atelencephaly Syndrome 50
Xk-Aprosencephaly Syndrome 50
Aprosencephaly Syndrome 50
Garcia-Lurie Syndrome 50
Xk Syndrome 50

Classifications:



Summaries for Xk Aprosencephaly

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3469disease definitionxk aprosencephaly is a very rare syndromic type of cerebral malformation (see this term) characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. the syndrome is thought to have an autosomal recessive mode of inheritance.visit the orphanet disease page for more resources. last updated: 5/19/2015

MalaCards based summary : Xk Aprosencephaly, also known as aprosencephaly-atelencephaly syndrome, is related to aprosencephaly syndrome and anencephaly.

Related Diseases for Xk Aprosencephaly

Diseases in the Xk Aprosencephaly family:

Aprosencephaly Syndrome

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

id Related Disease Score Top Affiliating Genes
1 aprosencephaly syndrome 11.6
2 anencephaly 10.0

Symptoms & Phenotypes for Xk Aprosencephaly

Drugs & Therapeutics for Xk Aprosencephaly

Search Clinical Trials , NIH Clinical Center for Xk Aprosencephaly

Genetic Tests for Xk Aprosencephaly

Genetic tests related to Xk Aprosencephaly:

id Genetic test Affiliating Genes
1 Xk Aprosencephaly 29

Anatomical Context for Xk Aprosencephaly

Publications for Xk Aprosencephaly

Articles related to Xk Aprosencephaly:

id Title Authors Year
1
XK-aprosencephaly and related entities. ( 16208689 )
2005
2
XK aprosencephaly. ( 9571288 )
1998
3
XK aprosencephaly may be a new mutation or a dominant genetic defect. ( 2817005 )
1989
4
XK aprosencephaly and anencephaly in sibs. ( 3287923 )
1988
5
A review and case report of aprosencephaly and the XK aprosencephaly syndrome. ( 7081301 )
1982
6
The XK-aprosencephaly syndrome. ( 7193413 )
1980

Variations for Xk Aprosencephaly

Expression for Xk Aprosencephaly

Search GEO for disease gene expression data for Xk Aprosencephaly.

Pathways for Xk Aprosencephaly

GO Terms for Xk Aprosencephaly

Sources for Xk Aprosencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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