MCID: XKP001
MIFTS: 13

Xk Aprosencephaly

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Xk Aprosencephaly

MalaCards integrated aliases for Xk Aprosencephaly:

Name: Xk Aprosencephaly 49 28 69
Aprosencephaly-Atelencephaly Syndrome 49
Xk-Aprosencephaly Syndrome 49
Aprosencephaly Syndrome 49
Garcia-Lurie Syndrome 49
Xk Syndrome 49

Classifications:



External Ids:

UMLS 69 C0795952

Summaries for Xk Aprosencephaly

NIH Rare Diseases : 49 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:

# Related Disease Score Top Affiliating Genes
1 aprosencephaly syndrome 11.8
2 anencephaly 10.2

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:

# Genetic test Affiliating Genes
1 Xk Aprosencephaly 28

Anatomical Context for Xk Aprosencephaly

Publications for Xk Aprosencephaly

Articles related to Xk Aprosencephaly:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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