LISX2
MCID: LSS037
MIFTS: 53

Lissencephaly, X-Linked, 2 (LISX2)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Lissencephaly, X-Linked, 2

MalaCards integrated aliases for Lissencephaly, X-Linked, 2:

Name: Lissencephaly, X-Linked, 2 57 71
X-Linked Lissencephaly with Abnormal Genitalia 11 19 42 58 28 5
Hydranencephaly with Abnormal Genitalia 57 19 28 12 5
X-Linked Lissencephaly with Ambiguous Genitalia 11 19 42 58
Xlisg 57 19 42 73
Xlag 57 11 42 73
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome 11 19 58
Lissencephaly, X-Linked 2 57 19 73
X-Linked Lissencephaly 2 11 42 14
Xlag Syndrome 11 19 58
Lisx2 57 42 73
Lissencephaly, X-Linked, with Ambiguous Genitalia 57 19
X-Linked Lissencephaly-Agenesis of the Corpus Callosum-Genital Anomalies Syndrome 19
X-Linked Lissencephaly - Agenesis of the Corpus Callosum - Genital Anomalies 19
Lissencephaly X-Linked with Ambiguous Genitalia 73
Chromosome Xq26.3 Duplication Syndrome 71
Lissencephaly, X-Linked, Type 2 38
Xlag Syndrome 19
Xlis2 11

Characteristics:


Inheritance:

Lissencephaly, X-Linked, 2: X-linked 57
X-Linked Lissencephaly with Abnormal Genitalia: X-linked recessive 58

Age Of Onset:

X-Linked Lissencephaly with Abnormal Genitalia: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
early death in males
some female carriers are more mildly affected


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Lissencephaly, X-Linked, 2

MedlinePlus Genetics: 42 X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males.XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Starting soon after birth, babies with XLAG have frequent and recurrent seizures (epilepsy). Most children with XLAG do not survive past early childhood.Another key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia).Additional signs and symptoms of XLAG include chronic diarrhea, periods of increased blood sugar (transient hyperglycemia), and problems with body temperature regulation.

MalaCards based summary: Lissencephaly, X-Linked, 2, also known as x-linked lissencephaly with abnormal genitalia, is related to intellectual developmental disorder, x-linked 29 and corpus callosum, agenesis of, with abnormal genitalia, and has symptoms including snoring and thick skin. An important gene associated with Lissencephaly, X-Linked, 2 is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Signal Transduction and Activation of AMPK downstream of NMDARs. Affiliated tissues include brain, cortex and testes, and related phenotypes are intellectual disability and seizure

OMIM®: 57 X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (300215) (Updated 08-Dec-2022)

GARD: 19 X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

Orphanet: 58 X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

UniProtKB/Swiss-Prot: 73 A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia.

Disease Ontology: 11 A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has material basis in mutation in ARX on chromosome Xp21.3.

Related Diseases for Lissencephaly, X-Linked, 2

Diseases in the Lissencephaly, X-Linked, 2 family:

Lissencephaly, X-Linked, 1

Diseases related to Lissencephaly, X-Linked, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 intellectual developmental disorder, x-linked 29 32.0 LOC109610631 ARX
2 corpus callosum, agenesis of, with abnormal genitalia 31.8 TUBA1A IPO13 ARX
3 partington syndrome 31.8 LOC109610631 IPO13 ARX
4 corpus callosum, agenesis of 31.0 TUBA1A ARX
5 neuronal migration disorders 30.8 TUBA1A RELN
6 lissencephaly 30.5 VLDLR TUBB2B TUBA1A RELN GPR101 ARX
7 miller-dieker lissencephaly syndrome 29.9 VLDLR TUBB2B TUBA1A RELN ARX
8 multiple endocrine neoplasia, type i 29.3 SST PRL PRKAR1A MEN1 GPR101 GHRHR
9 chromosome xq26.3 duplication syndrome 11.3
10 developmental and epileptic encephalopathy 1 10.9
11 non-syndromic x-linked intellectual disability arx-related 10.9
12 null pituitary adenoma 10.4 MEN1 AIP
13 silent pituitary adenoma 10.4 MEN1 AIP
14 tuberculum sellae meningioma 10.4 PRL GHRH
15 lissencephaly, x-linked, 1 10.3
16 sella turcica neoplasm 10.3 PRL GHRH
17 lactocele 10.3 PRL GHRH
18 tubulinopathy-associated dysgyria 10.3 TUBB2B TUBA1A
19 prolactin producing pituitary tumor 10.3 PRL MEN1
20 non-functioning pancreatic endocrine tumor 10.3 SST MEN1
21 syndromic x-linked intellectual disability shashi type 10.3 RBMX GPR101
22 chiasmal syndrome 10.3 SST PRL
23 gastric gastrinoma 10.3 SST MEN1
24 pancreatic somatostatinoma 10.3 SST MEN1
25 lissencephaly 10 10.3 TUBA1A RELN
26 gastrointestinal neuroendocrine benign tumor 10.3 SST MEN1
27 acidophil adenoma 10.3 SST PRL
28 duodenal gastrinoma 10.3 SST MEN1
29 lissencephaly 7 with cerebellar hypoplasia 10.3 TUBA1A RELN
30 ectopic cushing syndrome 10.3 SST PRL
31 carcinoid syndrome 10.3 SST GHRH
32 melanotic neurilemmoma 10.3 PRL PRKAR1A GPR101
33 duodenal somatostatinoma 10.3 SST MEN1
34 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.3 TUBA1A ARX
35 pancreatic gastrinoma 10.3 SST MEN1
36 carcinoid tumors, intestinal 10.3 SST MEN1
37 cryptorchidism, unilateral or bilateral 10.3
38 pseudovaginal perineoscrotal hypospadias 10.3
39 penis agenesis 10.3
40 breast adenoma 10.3 PRL PRKAR1A
41 pancreatic cholera 10.3 SST MEN1 GHRH
42 endocrine pancreas disease 10.3 SST MEN1 GHRH
43 esophageal neuroendocrine tumor 10.3 SST MEN1 GHRH
44 hypothalamic disease 10.3 PRL GHRH
45 serotonin syndrome 10.3 SST MEN1 GHRH
46 gangliocytoma 10.3 SST PRL GHRH
47 gastrointestinal neuroendocrine tumor 10.3 SST MEN1
48 pituitary apoplexy 10.3 SST PRL AIP
49 somatostatinoma 10.3 SST MEN1 GHRH
50 zollinger-ellison syndrome 10.3 SST MEN1 GHRH

Graphical network of the top 20 diseases related to Lissencephaly, X-Linked, 2:



Diseases related to Lissencephaly, X-Linked, 2

Symptoms & Phenotypes for Lissencephaly, X-Linked, 2

Human phenotypes related to Lissencephaly, X-Linked, 2:

58 30 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001250
3 agenesis of corpus callosum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001274
4 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
5 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
6 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000028
7 hypoplasia of penis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008736
8 ambiguous genitalia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000062
9 pachygyria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001302
10 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
11 malabsorption 58 30 Frequent (33%) Frequent (79-30%)
HP:0002024
12 hypohidrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000966
13 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
14 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
15 prominent forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011220
16 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
17 exocrine pancreatic insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001738
18 aganglionic megacolon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002251
19 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
20 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
21 hyperreflexia 30 HP:0001347
22 high palate 30 HP:0000218
23 wide nasal bridge 30 HP:0000431
24 feeding difficulties in infancy 30 HP:0008872
25 low-set ears 30 HP:0000369
26 specific learning disability 30 HP:0001328
27 micropenis 30 HP:0000054
28 thin upper lip vermilion 30 HP:0000219
29 long philtrum 30 HP:0000343
30 death in infancy 58 Frequent (79-30%)
31 prominent nasal bridge 30 HP:0000426
32 high forehead 30 HP:0000348
33 severe global developmental delay 30 HP:0011344
34 decreased testicular size 30 HP:0008734
35 wide anterior fontanel 30 HP:0000260
36 profound global developmental delay 30 HP:0012736
37 diarrhea 30 HP:0002014
38 generalized hypotonia 30 HP:0001290
39 duane anomaly 30 HP:0009921
40 long upper lip 30 HP:0011341
41 gliosis 30 HP:0002171

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
hypotonia
enlarged ventricles
agenesis of the corpus callosum
psychomotor retardation, profound
more
Head And Neck Face:
micrognathia
long philtrum

Head And Neck Head:
high forehead
large anterior fontanelle

Head And Neck Mouth:
long upper lip
thin upper lip
high-arched palate

Endocrine Features:
hypothalamic dysfunction
impaired temperature regulation

Head And Neck Nose:
wide nasal bridge
prominent nasal root
pinched nasal alae

Head And Neck Ears:
low-set ears

Genitourinary External Genitalia Male:
ambiguous genitalia
small penis
small testes
underdeveloped scrotal folds

Abdomen Gastrointestinal:
poor feeding
diarrhea, chronic

Head And Neck Eyes:
thin optic nerves
duane anomaly (reported in 1 female)

Clinical features from OMIM®:

300215 (Updated 08-Dec-2022)

UMLS symptoms related to Lissencephaly, X-Linked, 2:


snoring; thick skin

MGI Mouse Phenotypes related to Lissencephaly, X-Linked, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.18 ARHGEF6 ARX CDKN1B GHRH GHRHR IGSF1
2 homeostasis/metabolism MP:0005376 10.13 AIP ARHGEF6 ARX CDKN1B GHRH GHRHR
3 growth/size/body region MP:0005378 10.03 AIP ARX CDKN1B GHRH GHRHR IGSF1
4 adipose tissue MP:0005375 9.87 CDKN1B GHRH GHRHR PRKAR1A RELN SST
5 behavior/neurological MP:0005386 9.83 ARHGEF6 ARX CDKN1B GHRH GHRHR GPR101
6 reproductive system MP:0005389 9.36 ARX CDKN1B GHRH GHRHR IGSF1 MEN1

Drugs & Therapeutics for Lissencephaly, X-Linked, 2

Search Clinical Trials, NIH Clinical Center for Lissencephaly, X-Linked, 2

Genetic Tests for Lissencephaly, X-Linked, 2

Genetic tests related to Lissencephaly, X-Linked, 2:

# Genetic test Affiliating Genes
1 X-Linked Lissencephaly with Abnormal Genitalia 28 ARX
2 Hydranencephaly with Abnormal Genitalia 28

Anatomical Context for Lissencephaly, X-Linked, 2

Organs/tissues related to Lissencephaly, X-Linked, 2:

MalaCards : Brain, Cortex, Testes, Skin, Globus Pallidus, Pancreas, Hypothalamus
ODiseA: Brain

Publications for Lissencephaly, X-Linked, 2

Articles related to Lissencephaly, X-Linked, 2:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 62 57 5
14722918 2004
2
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 62 57 5
12379852 2002
3
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. 62 57 5
11891829 2002
4
ARX mutations in X-linked lissencephaly with abnormal genitalia. 62 5
12874405 2003
5
X-linked lissencephaly with ambiguous genitalia: delineation of further case. 62 57
10982975 2000
6
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. 62 57
10494089 1999
7
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations. 5
22252899 2012
8
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 57
19439424 2009
9
Expansion of the ARX spectrum. 57
18462864 2008
10
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. 57
1605226 1992
11
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy. 62
35094084 2022
12
Ambiguous Genitalia and Lissencephaly in A 46,XY Neonate with a Novel Variant of Aristaless Gene. 62
35342471 2021
13
Genetics of Acromegaly and Gigantism. 62
33805450 2021
14
Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome. 62
33110888 2020
15
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. 62
31412107 2019
16
Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature. 62
28272686 2019
17
Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly. 62
30711029 2019
18
Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping? 62
29984154 2018
19
INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS. 62
29062978 2017
20
X-LAG: How did they grow so tall? 62
28457479 2017
21
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX. 62
28150386 2017
22
Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening. 62
30063429 2017
23
A Neonate with X-linked Lissencephaly with Ambiguous Genitalia. 62
28553390 2017
24
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease. 62
29152528 2017
25
Gigantism: X-linked acrogigantism and GPR101 mutations. 62
27743704 2016
26
Combinatory use of central venous catheter and ethanol lock for a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome. 62
30010278 2016
27
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. 62
27245663 2016
28
Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management. 62
26982009 2016
29
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. 62
26306640 2016
30
Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. 62
26935837 2016
31
Watery diarrhea-hypopotassemia-acidosis syndrome like diarrhea in a case with X-linked lissencephaly with abnormal genitalia. 62
26129807 2015
32
The Role of ARX in Human Pancreatic Endocrine Specification. 62
26633894 2015
33
Postnatally diagnosed agenesis of corpus callosum in fetuses. 62
24833489 2014
34
An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development. 62
22628459 2013
35
Arx polyalanine expansion in mice leads to reduced pancreatic α-cell specification and increased α-cell death. 62
24236044 2013
36
Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. 62
22642246 2012
37
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. 62
22585566 2012
38
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. 62
22194193 2012
39
Primary hypogonadism in a case with XLAG syndrome. 62
23329764 2012
40
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females. 62
21426321 2011
41
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. 62
21416597 2011
42
Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression. 62
20624841 2011
43
Quantum wavepacket ab initio molecular dynamics: generalizations using an extended Lagrangian treatment of diabatic states coupled through multireference electronic structure. 62
21073211 2010
44
Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation. 62
20538404 2010
45
ARX spectrum disorders: making inroads into the molecular pathology. 62
20506206 2010
46
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). 62
19738637 2010
47
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. 62
20148114 2010
48
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). 62
18842366 2009
49
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). 62
18458920 2008
50
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. 62
18412232 2008

Variations for Lissencephaly, X-Linked, 2

ClinVar genetic disease variations for Lissencephaly, X-Linked, 2:

5 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARX NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) SNV Pathogenic
11193 rs104894740 GRCh37: X:25028379-25028379
GRCh38: X:25010262-25010262
2 ARX NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) SNV Pathogenic
11197 rs104894741 GRCh37: X:25031084-25031084
GRCh38: X:25012967-25012967
3 ARX NM_139058.3(ARX):c.1105G>T (p.Glu369Ter) SNV Pathogenic
11201 rs104894746 GRCh37: X:25028391-25028391
GRCh38: X:25010274-25010274
4 ARX NM_139058.3(ARX):c.232G>T (p.Glu78Ter) SNV Pathogenic
11205 rs267606666 GRCh37: X:25031880-25031880
GRCh38: X:25013763-25013763
5 ARX NM_139058.3(ARX):c.790del (p.Arg264fs) DEL Pathogenic
287023 rs886043552 GRCh37: X:25031322-25031322
GRCh38: X:25013205-25013205
6 ARX NM_139058.3(ARX):c.956C>A (p.Ser319Ter) SNV Pathogenic
945320 rs2048708701 GRCh37: X:25031156-25031156
GRCh38: X:25013039-25013039
7 LOC109610631, ARX NM_139058.3(ARX):c.424_455del (p.Ala142fs) DEL Pathogenic
11190 GRCh37: X:25031657-25031688
GRCh38: X:25013540-25013571
8 ARX NM_139058.3(ARX):c.995G>A (p.Arg332His) SNV Pathogenic
11192 rs111033612 GRCh37: X:25031117-25031117
GRCh38: X:25013000-25013000
9 ARX NG_008281.1:g.(?_4983)_(8028_10643)del DEL Pathogenic
11195 GRCh37:
GRCh38:
10 ARX NM_139058.3(ARX):c.1372del (p.Ala458fs) DEL Pathogenic
157744 rs587783187 GRCh37: X:25025304-25025304
GRCh38: X:25007187-25007187
11 ARX NM_139058.3(ARX):c.1414C>T (p.Arg472Ter) SNV Pathogenic
157746 rs587783189 GRCh37: X:25025262-25025262
GRCh38: X:25007145-25007145
12 ARX NM_139058.3(ARX):c.1465del (p.Ala489fs) DEL Pathogenic
157748 rs587783191 GRCh37: X:25023011-25023011
GRCh38: X:25004894-25004894
13 LOC109610631, ARX NM_139058.3(ARX):c.335_368del (p.Ala112fs) DEL Pathogenic
157756 rs587783199 GRCh37: X:25031744-25031777
GRCh38: X:25013627-25013660
14 ARX NM_139058.3(ARX):c.617del (p.Gly206fs) DEL Pathogenic
157759 rs587783202 GRCh37: X:25031495-25031495
GRCh38: X:25013378-25013378
15 ARX NM_139058.3(ARX):c.995G>T (p.Arg332Leu) SNV Pathogenic
157765 rs111033612 GRCh37: X:25031117-25031117
GRCh38: X:25013000-25013000
16 ARX NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) INDEL Pathogenic
210335 rs797045303 GRCh37: X:25031549-25031550
GRCh38: X:25013432-25013433
17 ARX NM_139058.3(ARX):c.1096del (p.Asp366fs) DEL Pathogenic
210316 rs797045289 GRCh37: X:25028400-25028400
GRCh38: X:25010283-25010283
18 LOC109610631, ARX NM_139058.3(ARX):c.409dup (p.Glu137fs) DUP Pathogenic
210330 rs797045298 GRCh37: X:25031702-25031703
GRCh38: X:25013585-25013586
19 ARX NM_139058.3(ARX):c.1337dup (p.Pro447fs) DUP Pathogenic
210319 rs797045291 GRCh37: X:25025338-25025339
GRCh38: X:25007221-25007222
20 ARX NM_139058.3(ARX):c.1120-82_1469dup DUP Pathogenic
210317 GRCh37: X:25023006-25023007
GRCh38: X:25004889-25004890
21 LOC109610631, ARX NM_139058.2(ARX):c.304_305ins21 (p.?) INSERT Pathogenic
210326 GRCh37: X:25031807-25031808
GRCh38: X:25013690-25013691
22 ARX NM_139058.3(ARX):c.1449-82_1469dup DUP Pathogenic
210320 rs1556046904 GRCh37: X:25023006-25023007
GRCh38: X:25004889-25004890
23 ARX NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) INSERT Pathogenic
210318 rs797045290 GRCh37: X:25025511-25025512
GRCh38: X:25007394-25007395
24 ARX NM_139058.3(ARX):c.1141del (p.Ala381fs) DEL Pathogenic
434396 rs1556049694 GRCh37: X:25025535-25025535
GRCh38: X:25007418-25007418
25 ARX NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs) INDEL Pathogenic
434399 rs1556046720 GRCh37: X:25022927-25022941
GRCh38: X:25004810-25004824
26 ARX NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs) MICROSAT Pathogenic
995570 rs2048682798 GRCh37: X:25025449-25025450
GRCh38: X:25007332-25007333
27 ARX NM_139058.3(ARX):c.1187dup (p.Gly397fs) DUP Pathogenic
11194 rs1328291159 GRCh37: X:25025488-25025489
GRCh38: X:25007371-25007372
28 LOC109610631, ARX NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup) MICROSAT Pathogenic
210327 rs387906492 GRCh37: X:25031776-25031777
GRCh38: X:25013659-25013660
29 LOC109610631, ARX NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) DUP Pathogenic
96455 rs398124510 GRCh37: X:25031647-25031648
GRCh38: X:25013530-25013531
30 ARX NM_139058.3(ARX):c.1471dup (p.Leu491fs) DUP Pathogenic
210321 rs797045292 GRCh37: X:25023004-25023005
GRCh38: X:25004887-25004888
31 LOC109610631, ARX NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) MICROSAT Pathogenic
11186 rs387906492 GRCh37: X:25031776-25031777
GRCh38: X:25013659-25013660
32 ARX NM_139058.3(ARX):c.525C>G (p.Tyr175Ter) SNV Pathogenic
689380 rs1601948603 GRCh37: X:25031587-25031587
GRCh38: X:25013470-25013470
33 ARX NM_139058.3(ARX):c.1206del (p.Pro403fs) DEL Likely Pathogenic
1526057 GRCh37: X:25025470-25025470
GRCh38: X:25007353-25007353
34 LOC109610631, ARX NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup) DUP Likely Pathogenic
210331 rs1556056131 GRCh37: X:25031650-25031651
GRCh38: X:25013533-25013534
35 ARX NM_139058.3(ARX):c.1121T>A (p.Val374Asp) SNV Likely Pathogenic
157740 rs587783183 GRCh37: X:25025555-25025555
GRCh38: X:25007438-25007438
36 ARX NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) SNV Likely Pathogenic
157741 rs587783184 GRCh37: X:25025542-25025542
GRCh38: X:25007425-25007425
37 ARX NM_139058.3(ARX):c.187G>A (p.Ala63Thr) SNV Uncertain Significance
581240 rs769996976 GRCh37: X:25033668-25033668
GRCh38: X:25015551-25015551
38 LOC109610631, ARX NM_139058.3(ARX):c.379C>T (p.Pro127Ser) SNV Uncertain Significance
1031153 rs1480629640 GRCh37: X:25031733-25031733
GRCh38: X:25013616-25013616
39 ARX NM_139058.3(ARX):c.74CCT[1] (p.Ser26del) MICROSAT Uncertain Significance
1334066 GRCh37: X:25033776-25033778
GRCh38: X:25015659-25015661
40 ARX NM_139058.3(ARX):c.1170C>T (p.Gly390=) SNV Uncertain Significance
234531 rs761632870 GRCh37: X:25025506-25025506
GRCh38: X:25007389-25007389

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly, X-Linked, 2:

73
# Symbol AA change Variation ID SNP ID
1 ARX p.Arg332His VAR_015178 rs111033612
2 ARX p.Leu343Gln VAR_015179 rs104894741
3 ARX p.Arg332Pro VAR_033260
4 ARX p.Pro353Arg VAR_033262
5 ARX p.Ala521Thr VAR_033263 rs746120093

Expression for Lissencephaly, X-Linked, 2

Search GEO for disease gene expression data for Lissencephaly, X-Linked, 2.

Pathways for Lissencephaly, X-Linked, 2

Pathways related to Lissencephaly, X-Linked, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.78 USP8 TUBB2B TUBA1A SST RBMX PRKAR1A
2
Show member pathways
11.56 TUBB2B TUBA1A MEN1
3 11.4 VLDLR RELN ARHGEF6
4 9.65 VLDLR RELN

GO Terms for Lissencephaly, X-Linked, 2

Biological processes related to Lissencephaly, X-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of growth hormone secretion GO:0060124 9.76 GHRHR GHRH
2 ventral spinal cord development GO:0021517 9.71 VLDLR RELN
3 reelin-mediated signaling pathway GO:0038026 9.67 VLDLR RELN
4 interneuron migration GO:1904936 9.65 RELN ARX
5 adenohypophysis development GO:0021984 9.5 GHRHR GHRH
6 growth hormone secretion GO:0030252 9.46 GHRHR GHRH
7 positive regulation of hormone secretion GO:0046887 9.43 GHRHR GHRH
8 neuron migration GO:0001764 9.43 TUBB2B TUBA1A RELN ARX
9 hormone secretion GO:0046879 9.26 GHRHR GHRH
10 cerebral cortex tangential migration GO:0021800 8.92 RELN ARX

Sources for Lissencephaly, X-Linked, 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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