MCID: APR009
MIFTS: 26

Aprosencephaly Syndrome

Categories: Fetal diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Aprosencephaly Syndrome

MalaCards integrated aliases for Aprosencephaly Syndrome:

Name: Aprosencephaly Syndrome 56 52
Garcia-Lurie Syndrome 56 52 58
Xk Aprosencephaly 52 29 71
Xk Syndrome 56 52 58
Aprosencephaly-Atelencephaly Syndrome 52
Xk-Aprosencephaly Syndrome 52
Xk Aprosencephaly Syndrome 58
Xk-Aprosencephaly 58

Characteristics:

Orphanet epidemiological data:

58
xk aprosencephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
aprosencephaly syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 207770
MESH via Orphanet 44 C536767
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C0431348 C0795952
Orphanet 58 ORPHA3469
MedGen 41 C0795952
UMLS 71 C0795952

Summaries for Aprosencephaly Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3469 Definition XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation 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 : Aprosencephaly Syndrome, also known as garcia-lurie syndrome, is related to anencephaly and alkuraya-kucinskas syndrome. Affiliated tissues include cortex and brain, and related phenotypes are microcephaly and narrow mouth

Wikipedia : 74 XK aprosencephaly (also called Garcia-Lurie syndrome, aprosencephaly, and aprosencephaly-atelencephaly... more...

More information from OMIM: 207770

Related Diseases for Aprosencephaly Syndrome

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 anencephaly 10.3
2 alkuraya-kucinskas syndrome 10.3
3 autosomal recessive disease 10.3
4 hydranencephaly 10.3
5 congenital amyoplasia 10.3
6 cryptorchidism, unilateral or bilateral 10.0
7 hypospadias 10.0
8 holoprosencephaly 10.0
9 ring chromosome 13 10.0
10 ring chromosome 10.0
11 atelencephaly 10.0
12 alobar holoprosencephaly 10.0
13 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0

Graphical network of the top 20 diseases related to Aprosencephaly Syndrome:



Diseases related to Aprosencephaly Syndrome

Symptoms & Phenotypes for Aprosencephaly Syndrome

Human phenotypes related to Aprosencephaly Syndrome:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
3 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
4 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
5 abnormality of the pharynx 58 31 frequent (33%) Frequent (79-30%) HP:0000600
6 abnormality of the nares 58 31 frequent (33%) Frequent (79-30%) HP:0005288
7 abnormal external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000811
8 abnormal morphology of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0045009
9 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
10 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
11 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
12 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
13 anencephaly 31 HP:0002323
14 hand oligodactyly 31 HP:0001180
15 aprosencephaly 31 HP:0007268

Symptoms via clinical synopsis from OMIM:

56
Neuro:
anencephaly
aprosencephaly

Limbs:
oligodactyly
humerus and radius fused

Clinical features from OMIM:

207770

Drugs & Therapeutics for Aprosencephaly Syndrome

Search Clinical Trials , NIH Clinical Center for Aprosencephaly Syndrome

Genetic Tests for Aprosencephaly Syndrome

Genetic tests related to Aprosencephaly Syndrome:

# Genetic test Affiliating Genes
1 Xk Aprosencephaly 29

Anatomical Context for Aprosencephaly Syndrome

MalaCards organs/tissues related to Aprosencephaly Syndrome:

40
Cortex, Brain

Publications for Aprosencephaly Syndrome

Articles related to Aprosencephaly Syndrome:

(show all 12)
# Title Authors PMID Year
1
XK-aprosencephaly and related entities. 56 61
16208689 2005
2
XK aprosencephaly and anencephaly in sibs. 61 56
3287923 1988
3
A review and case report of aprosencephaly and the XK aprosencephaly syndrome. 56 61
7081301 1982
4
The XK-aprosencephaly syndrome. 56 61
7193413 1980
5
Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature. 56
9409864 1997
6
Atelencephalic microcephaly. 56
870360 1977
7
A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. 61
12402000 2002
8
XK aprosencephaly. 61
9571288 1998
9
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome. 61
9332662 1997
10
Mosaic r(13) in an infant with aprosencephaly. 61
8256818 1993
11
Hypoplastic thumbs and hydranencephaly: a new syndrome? 61
1345515 1992
12
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome. 61
114053 1979

Variations for Aprosencephaly Syndrome

Expression for Aprosencephaly Syndrome

Search GEO for disease gene expression data for Aprosencephaly Syndrome.

Pathways for Aprosencephaly Syndrome

GO Terms for Aprosencephaly Syndrome

Sources for Aprosencephaly Syndrome

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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