MCAHS2
MCID: MLT128
MIFTS: 50

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 (MCAHS2)

Categories: Bone diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

MalaCards integrated aliases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

Name: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 57 12 72 29 13 6 15 70
Glycosylphosphatidylinositol Biosynthesis Defect 4 57 12 72
Mcahs2 57 20 72
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2 20 58
Developmental and Epileptic Encephalopathy 20 57 12
Epileptic Encephalopathy, Early Infantile, 20 57 72
Early Infantile Epileptic Encephalopathy 20 12 20
Mcahs Type 2 20 58
Eiee20 57 72
Gpibd4 57 72
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2 39
Glycosylphosphatidylinositol Biosynthesis Defect 4; Gpibd4 57
Epileptic Encephalopathy, Early Infantile, 20; Eiee20 57
Developmental and Epileptic Encephalopathy 20; Dee20 57
Ferro-Cerebro-Cutaneous Syndrome 72
Dee20 57
Fccs 72

Characteristics:

Orphanet epidemiological data:

58
multiple congenital anomalies-hypotonia-seizures syndrome type 2
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable severity
onset in utero or early infancy
evidence of systemic iron overload seen in 1 family
may be lethal in infancy
variable extraneurologic features

Inheritance:
x-linked recessive


HPO:

31
multiple congenital anomalies-hypotonia-seizures syndrome 2:
Onset and clinical course death in infancy variable expressivity
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

GARD : 20 Multiple congenital anomalies- hypotonia - seizures syndrome type 2 (MCAHS2) is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone ( hypotonia ) at birth, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs), and various other problems involving the central nervous system, heart, and urinary system. Specific symptoms (especially those not involving the nervous system) and severity vary from person to person, but most children develop severe developmental delay and intellectual disability. This condition is caused by mutations in the PIGA gene on the X chromosome and inheritance is X-linked recessive, so it typically affects boys. However, in some cases, MCAHS2 is not inherited from a parent and is the result of a new mutation occurring for the first time in a person with MCAHS2 (a de novo mutation). Treatment depends on the symptoms present and aims to control symptoms and increase quality of life. The long-term outlook and life expectancy varies depending on severity. Some children with MCAHS2 do not survive beyond infancy.

MalaCards based summary : Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2, also known as glycosylphosphatidylinositol biosynthesis defect 4, is related to hemoglobinuria and paroxysmal nocturnal hemoglobinuria, and has symptoms including myoclonic seizures An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. The drugs Grape and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include pons, brain and cerebellum, and related phenotypes are hepatomegaly and ichthyosis

Disease Ontology : 12 A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has material basis in mutation in the PIGA gene on chromosome Xp22.

OMIM® : 57 Multiple congenital anomalies-hypotonia-seizures syndrome-2 is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (300868) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Multiple congenital anomalies-hypotonia-seizures syndrome 2: An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy.

Related Diseases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Diseases in the Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome family:

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4

Diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 hemoglobinuria 30.5 PIGT PIGA CD59
2 paroxysmal nocturnal hemoglobinuria 30.5 PIGT PIGA CD59
3 hypotonia 30.4 PIGT PIGG PIGA
4 hemolytic anemia 29.9 PIGT PIGA CD59
5 multiple congenital anomalies-hypotonia-seizures syndrome 28.3 PIGV PIGT PIGO PIGL PIGG PIGA
6 ferro-cerebro-cutaneous syndrome 11.4
7 seizure disorder 10.4
8 encephalopathy 10.2
9 hemosiderosis 10.2
10 rare hereditary hemochromatosis 10.2
11 paroxysmal nocturnal hemoglobinuria 1 10.1 PIGT PIGA
12 congenital muscular dystrophy-dystroglycanopathy type a2 10.0 PIGV PIGL
13 bleeding disorder, platelet-type, 9 9.9 PIGT PIGL PIGA
14 multiple congenital anomalies-hypotonia-seizures syndrome 3 9.9 PIGT PGAP2
15 epilepsy 9.9
16 muscular dystrophy, congenital, with cataracts and intellectual disability 9.9 PIGL PGAP1
17 hyperphosphatasia with mental retardation syndrome 1 9.7 PIGV PIGO PIGG
18 salt and pepper syndrome 9.6 PIGT PGAP1 MPPE1
19 agnathia-otocephaly complex 9.6 PGAP1 MPPE1
20 coloboma of macula 9.5 PIGV PIGO PIGL PGAP2
21 hyperphosphatasia-intellectual disability syndrome 9.2 PIGV PIGO PIGL PIGG PGAP2
22 multiple congenital anomalies-hypotonia-seizures syndrome 1 9.1 PIGV PIGT PIGO PIGL PIGG PGAP2
23 autosomal recessive non-syndromic intellectual disability 8.8 PIGV PIGO PIGL PIGG PIGA PGAP2
24 anterior segment dysgenesis 4 8.2 PIGV PIGT PIGO PIGL PIGG PIGA

Graphical network of the top 20 diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:



Diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Symptoms & Phenotypes for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Human phenotypes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

31 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 occasional (7.5%) HP:0002240
2 ichthyosis 31 occasional (7.5%) HP:0008064
3 cirrhosis 31 occasional (7.5%) HP:0001394
4 polyhydramnios 31 occasional (7.5%) HP:0001561
5 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
6 seborrheic dermatitis 31 occasional (7.5%) HP:0001051
7 duplicated collecting system 31 occasional (7.5%) HP:0000081
8 elevated alkaline phosphatase 31 occasional (7.5%) HP:0003155
9 atrial septal defect 31 very rare (1%) HP:0001631
10 macrocephaly 31 HP:0000256
11 spasticity 31 HP:0001257
12 hyperreflexia 31 HP:0001347
13 high palate 31 HP:0000218
14 short neck 31 HP:0000470
15 coarse facial features 31 HP:0000280
16 hearing impairment 31 HP:0000365
17 global developmental delay 31 HP:0001263
18 depressed nasal bridge 31 HP:0005280
19 gingival overgrowth 31 HP:0000212
20 hypertelorism 31 HP:0000316
21 widely spaced teeth 31 HP:0000687
22 anteverted nares 31 HP:0000463
23 flexion contracture 31 HP:0001371
24 microdontia 31 HP:0000691
25 absent speech 31 HP:0001344
26 prominent occiput 31 HP:0000269
27 hydrops fetalis 31 HP:0001789
28 micrognathia 31 HP:0000347
29 cerebral cortical atrophy 31 HP:0002120
30 narrow mouth 31 HP:0000160
31 upslanted palpebral fissure 31 HP:0000582
32 downturned corners of mouth 31 HP:0002714
33 micropenis 31 HP:0000054
34 overfolded helix 31 HP:0000396
35 malar flattening 31 HP:0000272
36 large fontanelles 31 HP:0000239
37 absent septum pellucidum 31 HP:0001331
38 cerebellar hypoplasia 31 HP:0001321
39 large for gestational age 31 HP:0001520
40 abnormality of skin pigmentation 31 HP:0001000
41 hypoplasia of the corpus callosum 31 HP:0002079
42 postnatal microcephaly 31 HP:0005484
43 small nail 31 HP:0001792
44 lower limb spasticity 31 HP:0002061
45 olfactory lobe agenesis 31 HP:0001341
46 muscular hypotonia of the trunk 31 HP:0008936
47 cerebral visual impairment 31 HP:0100704
48 hypsarrhythmia 31 HP:0002521
49 triangular mouth 31 HP:0000207
50 elevated hepatic iron concentration 31 HP:0012465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Peripheral Nervous System:
hyperreflexia

Head And Neck Nose:
depressed nasal bridge
short, anteverted nose

Skeletal Skull:
prominent occiput
enlarged fontanel

Head And Neck Ears:
overfolded helix
deafness

Neurologic Central Nervous System:
hypsarrhythmia
epileptic encephalopathy
delayed myelination
myoclonic seizures
neuronal loss
more
Growth Other:
overgrowth

Head And Neck Eyes:
upslanting palpebral fissures
cortical blindness
widely spaced eyes

Genitourinary External Genitalia Male:
small penis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)
fetal hydrops (in some patients)

Growth Height:
increased birth length (in some patients)

Abdomen Liver:
hepatomegaly (1 family)
cirrhosis (1 family)
iron deposition (1 family)

Skin Nails Hair Skin:
ichthyosis (1 family)
seborrheic dermatitis (1 family)
linear plaque-like scales (1 family)
pigmentation abnormalities (1 family)

Head And Neck Neck:
short neck

Head And Neck Teeth:
microdontia
gingival hyperplasia
widely-spaced teeth
pointed teeth

Head And Neck Face:
micrognathia
malar flattening
coarse facies

Genitourinary Bladder:
vesicoureteral reflux

Head And Neck Mouth:
triangular mouth
high-arched palate
small mouth
downturned corners of the mouth

Skin Nails Hair Nails:
hypoplastic nails

Skeletal:
joint contractures

Head And Neck Head:
microcephaly (in some patients)
increased head circumference (in some patients)
deceleration of head growth

Cardiovascular Heart:
atrial septal defect (in some patients)

Growth Weight:
increased birth weight (in some patients)

Genitourinary Kidneys:
duplicated collecting system (1 patient)

Laboratory Abnormalities:
increased serum alkaline phosphatase (in some patients)

Clinical features from OMIM®:

300868 (Updated 05-Apr-2021)

UMLS symptoms related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:


myoclonic seizures

Drugs & Therapeutics for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Drugs for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Grape Approved
2
Dopamine Approved 62-31-7, 51-61-6 681
3
Methamphetamine Approved, Illicit 537-46-2 10836
4
Iodine Approved, Investigational 7553-56-2 807
5
Cadexomer iodine Experimental 94820-09-4
6 Calcium, Dietary
7 Central Nervous System Stimulants
8 Dopamine Agents
9 Neurotransmitter Agents
10 Sympathomimetics
11 Dopamine Uptake Inhibitors
12 Adrenergic Agents
13 Anti-Retroviral Agents
14 Pharmaceutical Solutions
15
Terephthalic acid 100-21-0 7489
16
Calcium Nutraceutical 7440-70-2 271
17
Leucine Investigational, Nutraceutical 61-90-5 6106

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Combination of Yoghurt Bacteria and Acid Lactase From Aspergillus Oryzae Improves Lactose Digestion in Lactose Malabsorbers More Reliably Than Preparations Containing Acid Lactase or Yoghurt Bacteria Alone Completed NCT01593631
2 Effects of Leucine Supplement on Body Weight and Cardiometabolic Changes Completed NCT00683826
3 Effect of Probiotic Supplementation on Lactose Maldigestion Induced by Fat-free Milk: Randomized, Double-blind, Placebo-controlled, Crossover, Acute Lactose Challenge Completed NCT03659747
4 National Evaluation of the Close Collaboration With Parents Training. Enhancing Parents' Presence and Participation During Neonatal Intensive Care. Completed NCT04635150
5 Cadence Modulation to Improve Well-Being, Kinematics and Aerobic Performance in Cyclists Completed NCT03482726
6 Treating Cancer-Related Fatigue Through Systematic Light Exposure Recruiting NCT03119363
7 Light Therapy to Treat Cancer-related Fatigue, Sleep Problems, Depression and Cognitive Impairment Among Breast Cancer Patients. Recruiting NCT04418856
8 Systematic Light Exposure to Treat Cancer-Related Fatigue in Breast Cancer Patients Recruiting NCT03217201
9 A Neurodevelopmental Data Capture of Patients Diagnosed With CTNNB1 Syndrome With Genotype/Phenotype Gorrelation Recruiting NCT04812119
10 Randomized Controlled Trial (RCT) to Evaluate the Impact of Online Training Tools Related to Pediatric Resuscitation in General EDs Active, not recruiting NCT03640520
11 Direct and Spillover Impacts of a Community-Level HIV/AIDS Program: Evidence From a Randomized Controlled Trial in Mozambique Active, not recruiting NCT03880175
12 Investigation of Photodegraded Edible Food Dyes in Drinking Water on Thyroid Function Not yet recruiting NCT04708704

Search NIH Clinical Center for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Genetic Tests for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Genetic tests related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

# Genetic test Affiliating Genes
1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 29 PIGA

Anatomical Context for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

MalaCards organs/tissues related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

40
Pons, Brain, Cerebellum, Thyroid

Publications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Articles related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

(show all 18)
# Title Authors PMID Year
1
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. 61 6 57
26545172 2016
2
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. 57 6 61
24357517 2014
3
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. 57 6
24706016 2014
4
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. 57 6
24259288 2014
5
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. 6 57
24259184 2014
6
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. 6 57
22305531 2012
7
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. 6 57
9307258 1997
8
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. 57 6
8599356 1995
9
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model. 6 61
28441409 2017
10
A novel PIGA mutation in a Taiwanese family with early-onset epileptic encephalopathy. 6
29656098 2018
11
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. 57
21507589 2012
12
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. 57
10441586 1999
13
A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins. 20
29502866 2018
14
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay. 20
29414593 2018
15
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia. 61
32256299 2020
16
The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study. 61
31687525 2019
17
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing. 61
29974678 2018
18
Paroxysmal nocturnal hemoglobinuria. 61
25237200 2014

Variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

ClinVar genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

6 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGA NM_020473.3(PIGA):c.13+3644dup Duplication Pathogenic 132815 rs587777397 GRCh37: X:15349976-15349977
GRCh38: X:15331854-15331855
2 PIGA NM_020473.3(PIGA):c.13+3800G>T SNV Pathogenic 132816 rs587777398 GRCh37: X:15349823-15349823
GRCh38: X:15331701-15331701
3 PIGA NM_020473.3(PIGA):c.13+4186A>T SNV Pathogenic 132817 rs201119959 GRCh37: X:15349437-15349437
GRCh38: X:15331315-15331315
4 PIGA NM_020473.3(PIGA):c.13+3848C>T SNV Pathogenic 132819 rs587777400 GRCh37: X:15349775-15349775
GRCh38: X:15331653-15331653
5 PIGA NM_002641.3(PIGA):c.1234C>T (p.Arg412Ter) SNV Pathogenic 29988 rs387906726 GRCh37: X:15339849-15339849
GRCh38: X:15321727-15321727
6 PIGA NM_002641.3(PIGA):c.1030_1032del (p.Leu344del) Deletion Pathogenic 132818 rs587777399 GRCh37: X:15342943-15342945
GRCh38: X:15324821-15324823
7 PIGA NM_002641.3(PIGA):c.355C>T (p.Arg119Trp) SNV Pathogenic/Likely pathogenic 132814 rs587777396 GRCh37: X:15349698-15349698
GRCh38: X:15331576-15331576
8 PIGA NM_002641.3(PIGA):c.368C>T (p.Thr123Met) SNV Likely pathogenic 432113 rs1555945480 GRCh37: X:15349685-15349685
GRCh38: X:15331563-15331563
9 PIGA NM_002641.4(PIGA):c.1A>G (p.Met1Val) SNV Likely pathogenic 1029466 GRCh37: X:15350052-15350052
GRCh38: X:15331930-15331930
10 PIGA NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) SNV Likely pathogenic 973228 GRCh37: X:15339728-15339728
GRCh38: X:15321606-15321606
11 PIGA NM_002641.3(PIGA):c.56G>A (p.Arg19Gln) SNV Likely pathogenic 488577 rs1555945553 GRCh37: X:15349997-15349997
GRCh38: X:15331875-15331875
12 PIGA NM_020473.3(PIGA):c.13+3965C>G SNV Likely pathogenic 393551 rs1060499625 GRCh37: X:15349658-15349658
GRCh38: X:15331536-15331536
13 PIGA NM_020473.3(PIGA):c.481G>A (p.Glu161Lys) SNV Likely pathogenic 397534 rs1060499666 GRCh37: X:15342792-15342792
GRCh38: X:15324670-15324670
14 PIGA NM_002641.3(PIGA):c.193C>T (p.His65Tyr) SNV Likely pathogenic 656542 rs1602212285 GRCh37: X:15349860-15349860
GRCh38: X:15331738-15331738
15 PIGA NM_002641.4(PIGA):c.356G>A (p.Arg119Gln) SNV Likely pathogenic 813740 GRCh37: X:15349697-15349697
GRCh38: X:15331575-15331575
16 PIGA NM_002641.3(PIGA):c.1386_1393dup (p.Thr465fs) Duplication Likely pathogenic 803711 rs1602206514 GRCh37: X:15339689-15339690
GRCh38: X:15321567-15321568
17 PIGA NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn) SNV Likely pathogenic 860851 GRCh37: X:15339729-15339729
GRCh38: X:15321607-15321607
18 PIGA NM_002641.4(PIGA):c.238A>G (p.Ile80Val) SNV Uncertain significance 954578 GRCh37: X:15349815-15349815
GRCh38: X:15331693-15331693
19 PIGA NM_002641.4(PIGA):c.144C>T (p.Gly48=) SNV Uncertain significance 959660 GRCh37: X:15349909-15349909
GRCh38: X:15331787-15331787
20 PIGA NM_002641.4(PIGA):c.640G>C (p.Asp214His) SNV Uncertain significance 960143 GRCh37: X:15349413-15349413
GRCh38: X:15331291-15331291
21 PIGA NM_002641.3(PIGA):c.955G>A (p.Val319Met) SNV Uncertain significance 589479 rs765961204 GRCh37: X:15343168-15343168
GRCh38: X:15325046-15325046
22 PIGA NM_002641.3(PIGA):c.247C>G (p.Leu83Val) SNV Uncertain significance 800486 rs1335237092 GRCh37: X:15349806-15349806
GRCh38: X:15331684-15331684
23 PIGA NM_002641.4(PIGA):c.783T>G (p.Ile261Met) SNV Uncertain significance 840437 GRCh37: X:15344101-15344101
GRCh38: X:15325979-15325979
24 PIGA NM_002641.4(PIGA):c.166C>G (p.Leu56Val) SNV Uncertain significance 828139 rs1602212318 GRCh37: X:15349887-15349887
GRCh38: X:15331765-15331765
25 PIGA NC_000023.11:g.(?_15321486)_(15335533_?)dup Duplication Uncertain significance 831223 GRCh37: X:15339608-15353655
GRCh38:
26 PIGA NM_002641.3(PIGA):c.23G>A (p.Gly8Glu) SNV Uncertain significance 656727 rs1602212451 GRCh37: X:15350030-15350030
GRCh38: X:15331908-15331908
27 PIGA NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) SNV Uncertain significance 471950 rs372966902 GRCh37: X:15342927-15342927
GRCh38: X:15324805-15324805
28 PIGA NM_002641.3(PIGA):c.348A>G (p.Ile116Met) SNV Uncertain significance 471951 rs1555945484 GRCh37: X:15349705-15349705
GRCh38: X:15331583-15331583
29 PIGA NM_002641.3(PIGA):c.112G>A (p.Val38Ile) SNV Uncertain significance 539321 rs1555945533 GRCh37: X:15349941-15349941
GRCh38: X:15331819-15331819
30 PIGA NM_002641.3(PIGA):c.761A>G (p.Tyr254Cys) SNV Uncertain significance 539322 rs1279450118 GRCh37: X:15344123-15344123
GRCh38: X:15326001-15326001
31 PIGA NM_002641.3(PIGA):c.1447A>G (p.Thr483Ala) SNV Uncertain significance 539323 rs745560847 GRCh37: X:15339636-15339636
GRCh38: X:15321514-15321514
32 PIGA NM_002641.3(PIGA):c.342G>T (p.Arg114Ser) SNV Uncertain significance 571728 rs1569180012 GRCh37: X:15349711-15349711
GRCh38: X:15331589-15331589
33 PIGA NM_002641.3(PIGA):c.854G>A (p.Arg285His) SNV Uncertain significance 572648 rs1569178381 GRCh37: X:15343269-15343269
GRCh38: X:15325147-15325147
34 PIGA NM_002641.3(PIGA):c.481G>T (p.Asp161Tyr) SNV Uncertain significance 574958 rs1569179975 GRCh37: X:15349572-15349572
GRCh38: X:15331450-15331450
35 PIGA NM_002641.3(PIGA):c.145G>A (p.Val49Met) SNV Uncertain significance 623369 rs1569180100 GRCh37: X:15349908-15349908
GRCh38: X:15331786-15331786
36 PIGA NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) SNV Uncertain significance 471950 rs372966902 GRCh37: X:15342927-15342927
GRCh38: X:15324805-15324805
37 PIGA NM_020473.3(PIGA):c.13+3818T>C SNV Uncertain significance 625990 rs1569180063 GRCh37: X:15349805-15349805
GRCh38: X:15331683-15331683
38 PIGA NM_002641.3(PIGA):c.1427A>G (p.Glu476Gly) SNV Uncertain significance 653615 rs775330646 GRCh37: X:15339656-15339656
GRCh38: X:15321534-15321534
39 PIGA NM_002641.3(PIGA):c.908A>C (p.His303Pro) SNV Uncertain significance 655263 rs139991272 GRCh37: X:15343215-15343215
GRCh38: X:15325093-15325093
40 PIGA NM_002641.3(PIGA):c.661A>G (p.Arg221Gly) SNV Uncertain significance 656423 rs1602211939 GRCh37: X:15349392-15349392
GRCh38: X:15331270-15331270
41 PIGA NM_002641.3(PIGA):c.61A>G (p.Ser21Gly) SNV Uncertain significance 430403 rs375401655 GRCh37: X:15349992-15349992
GRCh38: X:15331870-15331870
42 PIGA NM_002641.3(PIGA):c.1381C>T (p.Arg461Trp) SNV Uncertain significance 681365 rs752798208 GRCh37: X:15339702-15339702
GRCh38: X:15321580-15321580
43 PIGA NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly) SNV Uncertain significance 864122 GRCh37: X:15342798-15342798
GRCh38: X:15324676-15324676
44 PIGA NM_002641.4(PIGA):c.599C>T (p.Pro200Leu) SNV Uncertain significance 944230 GRCh37: X:15349454-15349454
GRCh38: X:15331332-15331332
45 PIGA NM_002641.4(PIGA):c.1131_1139del (p.His378_Ile380del) Deletion Uncertain significance 945388 GRCh37: X:15342836-15342844
GRCh38: X:15324714-15324722
46 PIGA NM_002641.4(PIGA):c.565A>G (p.Lys189Glu) SNV Uncertain significance 945994 GRCh37: X:15349488-15349488
GRCh38: X:15331366-15331366
47 PIGA NM_002641.4(PIGA):c.1418G>C (p.Arg473Thr) SNV Uncertain significance 972192 GRCh37: X:15339665-15339665
GRCh38: X:15321543-15321543
48 PIGA NM_002641.3(PIGA):c.1235G>A (p.Arg412Gln) SNV Uncertain significance 803712 rs1602206653 GRCh37: X:15339848-15339848
GRCh38: X:15321726-15321726
49 PIGA NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln) SNV Uncertain significance 1001338 GRCh37: X:15339884-15339884
GRCh38: X:15321762-15321762
50 PIGA NM_002641.4(PIGA):c.680C>G (p.Thr227Ser) SNV Uncertain significance 1002339 GRCh37: X:15349373-15349373
GRCh38: X:15331251-15331251

UniProtKB/Swiss-Prot genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 PIGA p.Arg77Leu VAR_071069 rs587777398
2 PIGA p.Pro93Leu VAR_071070 rs587777400
3 PIGA p.Arg119Trp VAR_071071 rs587777396
4 PIGA p.Ile206Phe VAR_071072 rs201119959

Expression for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Search GEO for disease gene expression data for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2.

Pathways for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Pathways related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 PIGV PIGT PIGO PIGL PIGG PIGA
2
Show member pathways
11.5 PIGV PIGT PIGO PIGL PIGG PIGA
3
Show member pathways
10.78 PIGV PIGT PIGO PIGL PIGG PIGA

GO Terms for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Cellular components related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.96 PIGV PIGT PIGO PIGL PIGG PIGA
2 integral component of membrane GO:0016021 9.81 PIGV PIGT PIGO PIGL PIGG PIGA
3 endoplasmic reticulum GO:0005783 9.56 PIGV PIGT PIGO PIGL PIGG PIGA
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.32 MPPE1 CD59
5 endoplasmic reticulum membrane GO:0005789 9.28 PIGV PIGT PIGO PIGL PIGG PIGA

Biological processes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.43 PGAP1 MPPE1 CD59
2 GPI anchor biosynthetic process GO:0006506 9.28 PIGV PIGT PIGO PIGL PIGG PIGA
3 preassembly of GPI anchor in ER membrane GO:0016254 9.26 PIGV PIGL PIGG PIGA
4 attachment of GPI anchor to protein GO:0016255 9.16 PIGT PGAP1

Molecular functions related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannose-ethanolamine phosphotransferase activity GO:0051377 8.62 PIGO PIGG

Sources for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
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61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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