MCAHS2
MCID: MLT128
MIFTS: 43

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 74 29 13 6 15 72
Glycosylphosphatidylinositol Biosynthesis Defect 4 57 12 74
Mcahs2 57 53 74
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2 53 59
Epileptic Encephalopathy, Early Infantile, 20 57 74
Early Infantile Epileptic Encephalopathy 20 12 53
Mcahs Type 2 53 59
Eiee20 57 74
Gpibd4 57 74
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2 40
Glycosylphosphatidylinositol Biosynthesis Defect 4; Gpibd4 57
Epileptic Encephalopathy, Early Infantile, 20; Eiee20 57
Ferro-Cerebro-Cutaneous Syndrome 74
Fccs 74

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
multiple congenital anomalies-hypotonia-seizures syndrome 2:
Clinical modifier death in infancy
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080139
ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA300496
MedGen 42 C3275508
UMLS 72 C3275508

Summaries for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

NIH Rare Diseases : 53 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 Creation of C4 and C2 activators. Affiliated tissues include heart, pons and brain, 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, 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 : 74 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 30)
# Related Disease Score Top Affiliating Genes
1 hemoglobinuria 29.0 PIGA CD59 CD55
2 paroxysmal nocturnal hemoglobinuria 29.0 PIGA CD59 CD55
3 ferro-cerebro-cutaneous syndrome 12.9
4 hemosiderosis 10.3
5 encephalopathy 10.3
6 rare hereditary hemochromatosis 10.3
7 multiple congenital anomalies-hypotonia-seizures syndrome 10.3
8 visual epilepsy 10.3
9 hypotonia 10.3
10 seizure disorder 10.3
11 colorectal cancer 10.2
12 burkitt lymphoma 10.1
13 human immunodeficiency virus type 1 10.1
14 gastric cancer 10.1
15 immunodeficiency, common variable, 10 10.1
16 familial adenomatous polyposis 10.1
17 lymphoma 10.1
18 cholelithiasis 10.1
19 gastric ulcer 10.1
20 adenocarcinoma 10.1
21 lynch syndrome 10.1
22 47,xyy 10.1
23 familial colorectal cancer 10.1
24 rapidly involuting congenital hemangioma 10.1
25 multiple congenital anomalies-hypotonia-seizures syndrome 3 9.5 CD59 CD55
26 anemia, autoimmune hemolytic 9.4 CD59 CD55
27 lymphopenia 9.2 CD59 CD55
28 hemolytic anemia 9.0 PIGA CD59 CD55
29 aplastic anemia 9.0 PIGA CD59 CD55
30 myelodysplastic syndrome 8.9 PIGA CD59 CD55

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:

32 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 occasional (7.5%) HP:0002240
2 ichthyosis 32 occasional (7.5%) HP:0008064
3 cirrhosis 32 occasional (7.5%) HP:0001394
4 atrial septal defect 32 occasional (7.5%) HP:0001631
5 polyhydramnios 32 occasional (7.5%) HP:0001561
6 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
7 seborrheic dermatitis 32 occasional (7.5%) HP:0001051
8 elevated alkaline phosphatase 32 occasional (7.5%) HP:0003155
9 duplicated collecting system 32 occasional (7.5%) HP:0000081
10 macrocephaly 32 HP:0000256
11 malar flattening 32 HP:0000272
12 hypertelorism 32 HP:0000316
13 short neck 32 HP:0000470
14 high palate 32 HP:0000218
15 spasticity 32 HP:0001257
16 hyperreflexia 32 HP:0001347
17 gingival overgrowth 32 HP:0000212
18 coarse facial features 32 HP:0000280
19 hearing impairment 32 HP:0000365
20 widely spaced teeth 32 HP:0000687
21 global developmental delay 32 HP:0001263
22 depressed nasal bridge 32 HP:0005280
23 anteverted nares 32 HP:0000463
24 flexion contracture 32 HP:0001371
25 micrognathia 32 HP:0000347
26 generalized myoclonic seizures 32 HP:0002123
27 microdontia 32 HP:0000691
28 absent speech 32 HP:0001344
29 prominent occiput 32 HP:0000269
30 narrow mouth 32 HP:0000160
31 abnormality of skin pigmentation 32 HP:0001000
32 hydrops fetalis 32 HP:0001789
33 cerebral cortical atrophy 32 HP:0002120
34 cerebellar hypoplasia 32 HP:0001321
35 small nail 32 HP:0001792
36 epileptic encephalopathy 32 HP:0200134
37 micropenis 32 HP:0000054
38 overfolded helix 32 HP:0000396
39 hypsarrhythmia 32 HP:0002521
40 upslanted palpebral fissure 32 HP:0000582
41 downturned corners of mouth 32 HP:0002714
42 large fontanelles 32 HP:0000239
43 absent septum pellucidum 32 HP:0001331
44 large for gestational age 32 HP:0001520
45 lower limb spasticity 32 HP:0002061
46 abnormality of the pons 32 HP:0007361
47 hypoplasia of the corpus callosum 32 HP:0002079
48 overgrowth 32 HP:0001548
49 postnatal microcephaly 32 HP:0005484
50 neuronal loss in central nervous system 32 HP:0002529

Symptoms via clinical synopsis from OMIM:

57
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

Neurologic Central Nervous System:
epileptic encephalopathy
hypsarrhythmia
delayed myelination
myoclonic seizures
neuronal loss
more
Genitourinary Bladder:
vesicoureteral reflux

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

Head And Neck Ears:
overfolded helix
deafness

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

Search Clinical Trials , 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:

41
Heart, Pons, Brain, Skin, Eye, Cerebellum, Olfactory Bulb

Publications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

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

(show all 17)
# Title Authors PMID Year
1
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. 38 8 71
26545172 2016
2
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. 38 8 71
24357517 2014
3
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. 8 71
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. 8 71
24259184 2014
5
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. 8 71
24259288 2014
6
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. 8 71
22305531 2012
7
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. 8 71
9307258 1997
8
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. 8 71
8599356 1995
9
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
10
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. 8
21507589 2012
11
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
12
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. 8
10441586 1999
13
A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins. 6
29502866 2018
14
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay. 6
29414593 2018
15
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. 38
29974678 2018
16
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model. 38
28441409 2017
17
Paroxysmal nocturnal hemoglobinuria. 38
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 48)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PIGA NM_002641.3(PIGA): c.76dup (p.Tyr26fs) duplication Pathogenic rs587777397 X:15349977-15349977 X:15331855-15331855
2 PIGA NM_002641.3(PIGA): c.230G> T (p.Arg77Leu) single nucleotide variant Pathogenic rs587777398 X:15349823-15349823 X:15331701-15331701
3 PIGA NM_002641.3(PIGA): c.616A> T (p.Ile206Phe) single nucleotide variant Pathogenic rs201119959 X:15349437-15349437 X:15331315-15331315
4 PIGA NM_002641.3(PIGA): c.1030_1032del (p.Leu344del) deletion Pathogenic rs587777399 X:15342943-15342945 X:15324821-15324823
5 PIGA NM_002641.3(PIGA): c.278C> T (p.Pro93Leu) single nucleotide variant Pathogenic rs587777400 X:15349775-15349775 X:15331653-15331653
6 PIGA NM_002641.3(PIGA): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic rs387906726 X:15339849-15339849 X:15321727-15321727
7 PIGA NM_002641.3(PIGA): c.355C> T (p.Arg119Trp) single nucleotide variant Likely pathogenic rs587777396 X:15349698-15349698 X:15331576-15331576
8 PIGA NM_002641.3(PIGA): c.193C> T (p.His65Tyr) single nucleotide variant Likely pathogenic X:15349860-15349860 X:15331738-15331738
9 PIGA NM_002641.3(PIGA): c.395C> G (p.Ser132Cys) single nucleotide variant Likely pathogenic rs1060499625 X:15349658-15349658 X:15331536-15331536
10 PIGA NM_002641.3(PIGA): c.1183G> A (p.Glu395Lys) single nucleotide variant Likely pathogenic rs1060499666 X:15342792-15342792 X:15324670-15324670
11 PIGA NM_002641.3(PIGA): c.56G> A (p.Arg19Gln) single nucleotide variant Likely pathogenic rs1555945553 X:15349997-15349997 X:15331875-15331875
12 PIGA NM_002641.3(PIGA): c.232A> G (p.Lys78Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs776182358 X:15349821-15349821 X:15331699-15331699
13 PIGA NM_002641.3(PIGA): c.92G> A (p.Arg31His) single nucleotide variant Uncertain significance X:15349961-15349961 X:15331839-15331839
14 PIGA NM_002641.3(PIGA): c.854G> A (p.Arg285His) single nucleotide variant Uncertain significance X:15343269-15343269 X:15325147-15325147
15 PIGA NM_002641.3(PIGA): c.481G> T (p.Asp161Tyr) single nucleotide variant Uncertain significance X:15349572-15349572 X:15331450-15331450
16 PIGA NM_002641.3(PIGA): c.342G> T (p.Arg114Ser) single nucleotide variant Uncertain significance X:15349711-15349711 X:15331589-15331589
17 PIGA NM_002641.3(PIGA): c.145G> A (p.Val49Met) single nucleotide variant Uncertain significance X:15349908-15349908 X:15331786-15331786
18 PIGA NM_002641.3(PIGA): c.248T> C (p.Leu83Pro) single nucleotide variant Uncertain significance X:15349805-15349805 X:15331683-15331683
19 PIGA NM_002641.3(PIGA): c.1427A> G (p.Glu476Gly) single nucleotide variant Uncertain significance X:15339656-15339656 X:15321534-15321534
20 PIGA NM_002641.3(PIGA): c.908A> C (p.His303Pro) single nucleotide variant Uncertain significance X:15343215-15343215 X:15325093-15325093
21 PIGA NM_002641.3(PIGA): c.661A> G (p.Arg221Gly) single nucleotide variant Uncertain significance X:15349392-15349392 X:15331270-15331270
22 PIGA NM_002641.3(PIGA): c.526T> G (p.Cys176Gly) single nucleotide variant Uncertain significance X:15349527-15349527 X:15331405-15331405
23 PIGA NM_002641.3(PIGA): c.407A> G (p.His136Arg) single nucleotide variant Uncertain significance X:15349646-15349646 X:15331524-15331524
24 PIGA NM_002641.3(PIGA): c.250A> G (p.Thr84Ala) single nucleotide variant Uncertain significance X:15349803-15349803 X:15331681-15331681
25 PIGA NM_002641.3(PIGA): c.1447A> G (p.Thr483Ala) single nucleotide variant Uncertain significance rs745560847 X:15339636-15339636 X:15321514-15321514
26 PIGA NM_002641.3(PIGA): c.1369G> A (p.Ala457Thr) single nucleotide variant Uncertain significance rs1440750558 X:15339714-15339714 X:15321592-15321592
27 PIGA NM_002641.3(PIGA): c.61A> G (p.Ser21Gly) single nucleotide variant Uncertain significance rs375401655 X:15349992-15349992 X:15331870-15331870
28 PIGA NM_002641.3(PIGA): c.307G> A (p.Ala103Thr) single nucleotide variant Uncertain significance rs777795093 X:15349746-15349746 X:15331624-15331624
29 PIGA NM_002641.3(PIGA): c.877A> G (p.Lys293Glu) single nucleotide variant Uncertain significance rs202161781 X:15343246-15343246 X:15325124-15325124
30 PIGA NM_002641.3(PIGA): c.1048C> T (p.Pro350Ser) single nucleotide variant Uncertain significance rs372966902 X:15342927-15342927 X:15324805-15324805
31 PIGA NM_002641.3(PIGA): c.348A> G (p.Ile116Met) single nucleotide variant Uncertain significance rs1555945484 X:15349705-15349705 X:15331583-15331583
32 PIGA NM_002641.3(PIGA): c.23G> A (p.Gly8Glu) single nucleotide variant Uncertain significance X:15350030-15350030 X:15331908-15331908
33 PIGA NM_002641.3(PIGA): c.1188+4T> C single nucleotide variant Uncertain significance X:15342783-15342783 X:15324661-15324661
34 PIGA NM_002641.3(PIGA): c.715+5T> C single nucleotide variant Uncertain significance X:15349333-15349333 X:15331211-15331211
35 PIGA NM_002641.3(PIGA): c.761A> G (p.Tyr254Cys) single nucleotide variant Uncertain significance rs1279450118 X:15344123-15344123 X:15326001-15326001
36 PIGA NM_002641.3(PIGA): c.112G> A (p.Val38Ile) single nucleotide variant Uncertain significance rs1555945533 X:15349941-15349941 X:15331819-15331819
37 PIGA NM_002641.3(PIGA): c.241C> T (p.Arg81Cys) single nucleotide variant Uncertain significance X:15349812-15349812 X:15331690-15331690
38 PIGA NM_002641.3(PIGA): c.1095A> G (p.Gln365=) single nucleotide variant Likely benign rs1555944375 X:15342880-15342880 X:15324758-15324758
39 PIGA NM_002641.3(PIGA): c.982-4T> A single nucleotide variant Likely benign rs1555944399 X:15342997-15342997 X:15324875-15324875
40 PIGA NM_002641.3(PIGA): c.982-9del deletion Likely benign rs1555944408 X:15343002-15343002 X:15324880-15324880
41 PIGA NM_002641.3(PIGA): c.1422G> A (p.Gly474=) single nucleotide variant Likely benign rs1381482858 X:15339661-15339661 X:15321539-15321539
42 PIGA NM_002641.3(PIGA): c.1420G> A (p.Gly474Arg) single nucleotide variant Benign/Likely benign rs61760986 X:15339663-15339663 X:15321541-15321541
43 PIGA NM_002641.3(PIGA): c.981+8G> A single nucleotide variant Benign/Likely benign rs778602062 X:15343134-15343134 X:15325012-15325012
44 PIGA NM_002641.3(PIGA): c.716-10A> G single nucleotide variant Benign/Likely benign rs375371562 X:15344178-15344178 X:15326056-15326056
45 PIGA NM_002641.3(PIGA): c.273C> T (p.Tyr91=) single nucleotide variant Benign/Likely benign rs61730284 X:15349780-15349780 X:15331658-15331658
46 PIGA NM_002641.3(PIGA): c.1214C> T (p.Ala405Val) single nucleotide variant Benign/Likely benign rs201361742 X:15339869-15339869 X:15321747-15321747
47 PIGA NM_002641.3(PIGA): c.55C> T (p.Arg19Trp) single nucleotide variant Benign rs34422225 X:15349998-15349998 X:15331876-15331876
48 PIGA NM_002641.3(PIGA): c.525T> C (p.Leu175=) single nucleotide variant Benign rs61751426 X:15349528-15349528 X:15331406-15331406

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

74
# 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

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 anchored component of membrane GO:0031225 9.16 CD59 CD55
2 transport vesicle GO:0030133 8.96 CD59 CD55
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.62 CD59 CD55

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 neutrophil degranulation GO:0043312 9.16 CD59 CD55
2 ER to Golgi vesicle-mediated transport GO:0006888 8.96 CD59 CD55
3 regulation of complement activation GO:0030449 8.62 CD59 CD55

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....