MCAHS2
MCID: MLT128
MIFTS: 47

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 56 12 73 29 13 6 15 71
Glycosylphosphatidylinositol Biosynthesis Defect 4 56 12 73
Mcahs2 56 52 73
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2 52 58
Epileptic Encephalopathy, Early Infantile, 20 56 73
Early Infantile Epileptic Encephalopathy 20 12 52
Mcahs Type 2 52 58
Eiee20 56 73
Gpibd4 56 73
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2 39
Glycosylphosphatidylinositol Biosynthesis Defect 4; Gpibd4 56
Epileptic Encephalopathy, Early Infantile, 20; Eiee20 56
Ferro-Cerebro-Cutaneous Syndrome 73
Fccs 73

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:

56
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:
Clinical modifier death in infancy
Onset and clinical course 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

NIH Rare Diseases : 52 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 hypotonia and 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. Affiliated tissues include heart, pons and eye, 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 : 56 Multiple congenital anomalies-hypotonia-seizures syndrome-2 is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, 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 (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 genetic heterogeneity of EIEE, see 308350; and for a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (300868)

UniProtKB/Swiss-Prot : 73 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

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 hypotonia 30.8 PIGG PIGA
2 hemoglobinuria 30.1 PIGT PIGA CD59 CD55
3 paroxysmal nocturnal hemoglobinuria 30.1 PIGT PIGA CD59 CD55
4 hemolytic anemia 29.9 PIGA CD59 CD55
5 multiple congenital anomalies-hypotonia-seizures syndrome 27.8 PIGV PIGT PIGO PIGM PIGG PIGA
6 ferro-cerebro-cutaneous syndrome 12.9
7 visual epilepsy 10.4
8 seizure disorder 10.4
9 hemosiderosis 10.3
10 encephalopathy 10.3
11 rare hereditary hemochromatosis 10.3
12 colorectal cancer 10.3
13 paroxysmal nocturnal hemoglobinuria 1 10.2 PIGT PIGA
14 bleeding disorder, platelet-type, 9 10.2 PIGT PIGA
15 burkitt lymphoma 10.1
16 human immunodeficiency virus type 1 10.1
17 gastric cancer 10.1
18 familial adenomatous polyposis 10.1
19 lymphoma 10.1
20 cholelithiasis 10.1
21 gastric ulcer 10.1
22 lynch syndrome 10.1
23 47,xyy 10.1
24 familial colorectal cancer 10.1
25 rapidly involuting congenital hemangioma 10.1
26 primary cutaneous b-cell lymphoma 10.0 CD59 CD55
27 anemia, autoimmune hemolytic 9.9 CD59 CD55
28 hemolytic uremic syndrome, atypical 1 9.9 PIGA CD59 CD55
29 multiple congenital anomalies-hypotonia-seizures syndrome 3 9.9 PIGT PGAP2
30 hyperphosphatasia with mental retardation syndrome 1 9.7 PIGV PIGO PIGG
31 coloboma of macula 9.5 PIGV PIGO PGAP2
32 aplastic anemia 9.5 PIGA CD59 CD55
33 hyperphosphatasia-intellectual disability syndrome 9.3 PIGV PIGO PGAP3 PGAP2
34 multiple congenital anomalies-hypotonia-seizures syndrome 1 9.1 PIGV PIGT PIGO PIGG PGAP2
35 autosomal recessive non-syndromic intellectual disability 8.6 PIGO PIGG PGAP3 PGAP2 PGAP1
36 anterior segment dysgenesis 4 8.1 PIGV PIGT PIGO PIGM 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 60)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 occasional (7.5%) HP:0002240
2 ichthyosis 31 occasional (7.5%) HP:0008064
3 polyhydramnios 31 occasional (7.5%) HP:0001561
4 cirrhosis 31 occasional (7.5%) HP:0001394
5 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
6 seborrheic dermatitis 31 occasional (7.5%) HP:0001051
7 elevated alkaline phosphatase 31 occasional (7.5%) HP:0003155
8 duplicated collecting system 31 occasional (7.5%) HP:0000081
9 atrial septal defect 31 very rare (1%) HP:0001631
10 macrocephaly 31 HP:0000256
11 malar flattening 31 HP:0000272
12 hypertelorism 31 HP:0000316
13 short neck 31 HP:0000470
14 spasticity 31 HP:0001257
15 hyperreflexia 31 HP:0001347
16 high palate 31 HP:0000218
17 coarse facial features 31 HP:0000280
18 hearing impairment 31 HP:0000365
19 global developmental delay 31 HP:0001263
20 depressed nasal bridge 31 HP:0005280
21 gingival overgrowth 31 HP:0000212
22 widely spaced teeth 31 HP:0000687
23 micrognathia 31 HP:0000347
24 small nail 31 HP:0001792
25 cerebral cortical atrophy 31 HP:0002120
26 anteverted nares 31 HP:0000463
27 flexion contracture 31 HP:0001371
28 generalized myoclonic seizures 31 HP:0002123
29 microdontia 31 HP:0000691
30 absent speech 31 HP:0001344
31 prominent occiput 31 HP:0000269
32 narrow mouth 31 HP:0000160
33 abnormality of skin pigmentation 31 HP:0001000
34 hydrops fetalis 31 HP:0001789
35 cerebellar hypoplasia 31 HP:0001321
36 micropenis 31 HP:0000054
37 upslanted palpebral fissure 31 HP:0000582
38 downturned corners of mouth 31 HP:0002714
39 epileptic encephalopathy 31 HP:0200134
40 overfolded helix 31 HP:0000396
41 hypsarrhythmia 31 HP:0002521
42 central hypotonia 31 HP:0011398
43 large fontanelles 31 HP:0000239
44 absent septum pellucidum 31 HP:0001331
45 hypoplasia of the corpus callosum 31 HP:0002079
46 large for gestational age 31 HP:0001520
47 lower limb spasticity 31 HP:0002061
48 abnormality of the pons 31 HP:0007361
49 overgrowth 31 HP:0001548
50 delayed myelination 31 HP:0012448

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
malar flattening
micrognathia
coarse facies

Neurologic Peripheral Nervous System:
hyperreflexia

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

Genitourinary Bladder:
vesicoureteral reflux

Head And Neck Ears:
overfolded helix
deafness

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

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 Nose:
depressed nasal bridge
short, anteverted nose

Skeletal Skull:
prominent occiput
enlarged fontanel

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

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

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


myoclonic seizures

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Communication Functions in Children With Cerebral Palsy Recruiting NCT04149561

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
Heart, Pons, Eye, Brain, Cerebellum, Skin, Olfactory Bulb

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 56 6
26545172 2016
2
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. 61 56 6
24357517 2014
3
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. 56 6
24706016 2014
4
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. 56 6
24259184 2014
5
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. 56 6
24259288 2014
6
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. 56 6
22305531 2012
7
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. 56 6
9307258 1997
8
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. 56 6
8599356 1995
9
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
10
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. 56
21507589 2012
11
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
12
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. 56
10441586 1999
13
A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins. 52
29502866 2018
14
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay. 52
29414593 2018
15
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
16
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
17
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model. 61
28441409 2017
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 all 45) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGA NM_002641.3(PIGA):c.76dup (p.Tyr26fs)duplication Pathogenic 132815 rs587777397 X:15349976-15349977 X:15331854-15331855
2 PIGA NM_002641.3(PIGA):c.230G>T (p.Arg77Leu)SNV Pathogenic 132816 rs587777398 X:15349823-15349823 X:15331701-15331701
3 PIGA NM_002641.3(PIGA):c.616A>T (p.Ile206Phe)SNV Pathogenic 132817 rs201119959 X:15349437-15349437 X:15331315-15331315
4 PIGA NM_002641.3(PIGA):c.1030_1032del (p.Leu344del)deletion Pathogenic 132818 rs587777399 X:15342943-15342945 X:15324821-15324823
5 PIGA NM_002641.3(PIGA):c.278C>T (p.Pro93Leu)SNV Pathogenic 132819 rs587777400 X:15349775-15349775 X:15331653-15331653
6 PIGA NM_002641.3(PIGA):c.1234C>T (p.Arg412Ter)SNV Pathogenic 29988 rs387906726 X:15339849-15339849 X:15321727-15321727
7 PIGA NM_002641.3(PIGA):c.355C>T (p.Arg119Trp)SNV Pathogenic/Likely pathogenic 132814 rs587777396 X:15349698-15349698 X:15331576-15331576
8 PIGA NM_002641.3(PIGA):c.56G>A (p.Arg19Gln)SNV Likely pathogenic 488577 rs1555945553 X:15349997-15349997 X:15331875-15331875
9 PIGA NM_002641.3(PIGA):c.193C>T (p.His65Tyr)SNV Likely pathogenic 656542 X:15349860-15349860 X:15331738-15331738
10 PIGA NM_002641.3(PIGA):c.395C>G (p.Ser132Cys)SNV Likely pathogenic 393551 rs1060499625 X:15349658-15349658 X:15331536-15331536
11 PIGA NM_002641.3(PIGA):c.1183G>A (p.Glu395Lys)SNV Likely pathogenic 397534 rs1060499666 X:15342792-15342792 X:15324670-15324670
12 PIGA NM_002641.3(PIGA):c.1386_1393dup (p.Thr465fs)duplication Likely pathogenic 803711 X:15339689-15339690 X:15321567-15321568
13 PIGA NM_002641.3(PIGA):c.232A>G (p.Lys78Glu)SNV Conflicting interpretations of pathogenicity 211904 rs776182358 X:15349821-15349821 X:15331699-15331699
14 PIGA NM_002641.3(PIGA):c.1235G>A (p.Arg412Gln)SNV Uncertain significance 803712 X:15339848-15339848 X:15321726-15321726
15 PIGA NM_002641.3(PIGA):c.1447A>G (p.Thr483Ala)SNV Uncertain significance 539323 rs745560847 X:15339636-15339636 X:15321514-15321514
16 PIGA NM_002641.3(PIGA):c.1369G>A (p.Ala457Thr)SNV Uncertain significance 539320 rs1440750558 X:15339714-15339714 X:15321592-15321592
17 PIGA NM_002641.3(PIGA):c.61A>G (p.Ser21Gly)SNV Uncertain significance 430403 rs375401655 X:15349992-15349992 X:15331870-15331870
18 PIGA NM_002641.3(PIGA):c.307G>A (p.Ala103Thr)SNV Uncertain significance 450374 rs777795093 X:15349746-15349746 X:15331624-15331624
19 PIGA NM_002641.3(PIGA):c.877A>G (p.Lys293Glu)SNV Uncertain significance 471953 rs202161781 X:15343246-15343246 X:15325124-15325124
20 PIGA NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser)SNV Uncertain significance 471950 rs372966902 X:15342927-15342927 X:15324805-15324805
21 PIGA NM_002641.3(PIGA):c.348A>G (p.Ile116Met)SNV Uncertain significance 471951 rs1555945484 X:15349705-15349705 X:15331583-15331583
22 PIGA NM_002641.3(PIGA):c.23G>A (p.Gly8Glu)SNV Uncertain significance 656727 X:15350030-15350030 X:15331908-15331908
23 PIGA NM_002641.3(PIGA):c.1188+4T>CSNV Uncertain significance 663262 X:15342783-15342783 X:15324661-15324661
24 PIGA NM_002641.3(PIGA):c.715+5T>CSNV Uncertain significance 647223 X:15349333-15349333 X:15331211-15331211
25 PIGA NM_002641.3(PIGA):c.247C>G (p.Leu83Val)SNV Uncertain significance 800486 rs1335237092 X:15349806-15349806 X:15331684-15331684
26 PIGA NM_002641.3(PIGA):c.761A>G (p.Tyr254Cys)SNV Uncertain significance 539322 rs1279450118 X:15344123-15344123 X:15326001-15326001
27 PIGA NM_002641.3(PIGA):c.112G>A (p.Val38Ile)SNV Uncertain significance 539321 rs1555945533 X:15349941-15349941 X:15331819-15331819
28 PIGA NM_002641.3(PIGA):c.241C>T (p.Arg81Cys)SNV Uncertain significance 561081 rs1569180071 X:15349812-15349812 X:15331690-15331690
29 PIGA NM_002641.3(PIGA):c.92G>A (p.Arg31His)SNV Uncertain significance 582423 rs758863767 X:15349961-15349961 X:15331839-15331839
30 PIGA NM_002641.3(PIGA):c.854G>A (p.Arg285His)SNV Uncertain significance 572648 rs1569178381 X:15343269-15343269 X:15325147-15325147
31 PIGA NM_002641.3(PIGA):c.481G>T (p.Asp161Tyr)SNV Uncertain significance 574958 rs1569179975 X:15349572-15349572 X:15331450-15331450
32 PIGA NM_002641.3(PIGA):c.342G>T (p.Arg114Ser)SNV Uncertain significance 571728 rs1569180012 X:15349711-15349711 X:15331589-15331589
33 PIGA NM_002641.3(PIGA):c.955G>A (p.Val319Met)SNV Uncertain significance 589479 rs765961204 X:15343168-15343168 X:15325046-15325046
34 PIGA NM_002641.3(PIGA):c.145G>A (p.Val49Met)SNV Uncertain significance 623369 rs1569180100 X:15349908-15349908 X:15331786-15331786
35 PIGA NM_002641.3(PIGA):c.248T>C (p.Leu83Pro)SNV Uncertain significance 625990 rs1569180063 X:15349805-15349805 X:15331683-15331683
36 PIGA NM_002641.3(PIGA):c.1427A>G (p.Glu476Gly)SNV Uncertain significance 653615 X:15339656-15339656 X:15321534-15321534
37 PIGA NM_002641.3(PIGA):c.908A>C (p.His303Pro)SNV Uncertain significance 655263 X:15343215-15343215 X:15325093-15325093
38 PIGA NM_002641.3(PIGA):c.661A>G (p.Arg221Gly)SNV Uncertain significance 656423 X:15349392-15349392 X:15331270-15331270
39 PIGA NM_002641.3(PIGA):c.526T>G (p.Cys176Gly)SNV Uncertain significance 655615 X:15349527-15349527 X:15331405-15331405
40 PIGA NM_002641.3(PIGA):c.407A>G (p.His136Arg)SNV Uncertain significance 664308 X:15349646-15349646 X:15331524-15331524
41 PIGA NM_002641.3(PIGA):c.250A>G (p.Thr84Ala)SNV Uncertain significance 644227 X:15349803-15349803 X:15331681-15331681
42 PIGA NM_002641.3(PIGA):c.982-4T>ASNV Likely benign 539326 rs1555944399 X:15342997-15342997 X:15324875-15324875
43 PIGA NM_002641.3(PIGA):c.982-9deldeletion Likely benign 539324 rs1555944408 X:15343002-15343002 X:15324880-15324880
44 PIGA NM_002641.3(PIGA):c.1095A>G (p.Gln365=)SNV Likely benign 539325 rs1555944375 X:15342880-15342880 X:15324758-15324758
45 PIGA NM_002641.3(PIGA):c.55C>T (p.Arg19Trp)SNV Benign 380857 rs34422225 X:15349998-15349998 X:15331876-15331876

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

73
# 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
13.23 PIGV PIGT PIGO PIGM PIGG PIGA
2
Show member pathways
11.5 PIGV PIGT PIGO PIGM PIGG PIGA
3
Show member pathways
10.78 PIGV PIGT PIGO PIGM 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 integral component of membrane GO:0016021 9.91 PIGV PIGT PIGO PIGM PIGG PIGA
2 membrane GO:0016020 9.9 PIGV PIGT PIGO PIGM PIGG PIGA
3 Golgi membrane GO:0000139 9.62 PGAP3 PGAP2 CD59 CD55
4 endoplasmic reticulum GO:0005783 9.56 PIGV PIGT PIGO PIGG PIGA PGAP3
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.37 CD59 CD55
6 endoplasmic reticulum membrane GO:0005789 9.32 PIGV PIGT PIGO PIGM 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 9.54 PGAP1 CD59 CD55
2 regulation of complement-dependent cytotoxicity GO:1903659 9.32 CD59 CD55
3 GPI anchor biosynthetic process GO:0006506 9.28 PIGV PIGT PIGO PIGM PIGG PIGA
4 attachment of GPI anchor to protein GO:0016255 9.26 PIGT PGAP1
5 preassembly of GPI anchor in ER membrane GO:0016254 9.26 PIGV PIGM PIGG PIGA
6 GPI anchor metabolic process GO:0006505 9.16 PGAP3 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 transferase activity, transferring glycosyl groups GO:0016757 9.33 PIGV PIGM PIGA
2 hydrolase activity, acting on ester bonds GO:0016788 8.96 PGAP3 PGAP1
3 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
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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