MCID: XKP001
MIFTS: 13

Xk Aprosencephaly

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Xk Aprosencephaly

MalaCards integrated aliases for Xk Aprosencephaly:

Name: Xk Aprosencephaly 53 29 73
Aprosencephaly-Atelencephaly Syndrome 53
Xk-Aprosencephaly Syndrome 53
Aprosencephaly Syndrome 53
Garcia-Lurie Syndrome 53
Xk Syndrome 53

Classifications:



External Ids:

UMLS 73 C0795952

Summaries for Xk Aprosencephaly

NIH Rare Diseases : 53 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.

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 29

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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