MCAHS1
MCID: MLT126
MIFTS: 46

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1)

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 1

MalaCards integrated aliases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:

Name: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 57 12 72 29 13 6 15 70
Glycosylphosphatidylinositol Biosynthesis Defect 3 57 72
Mcahs1 57 72
Gpibd3 57 72
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1 39
Congenital Disorder of Glycosylation Due to Pign Deficiency 58
Glycosylphosphatidylinositol Biosynthesis Defect 3; Gpibd3 57
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 58
Pign-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
multiple congenital anomalies-hypotonia-seizures syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth or in utero


HPO:

31
multiple congenital anomalies-hypotonia-seizures syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:

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


Summaries for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

OMIM® : 57 Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). (614080) (Updated 05-Apr-2021)

MalaCards based summary : Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1, also known as glycosylphosphatidylinositol biosynthesis defect 3, is related to multiple congenital anomalies-hypotonia-seizures syndrome 3 and hypotonia, and has symptoms including seizures, tremor and muscle spasticity. An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. Affiliated tissues include testis, kidney and lung, and related phenotypes are hyperreflexia and macrocephaly

Disease Ontology : 12 A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has material basis in homozygous mutation in the PIGN gene on chromosome 18q21.

UniProtKB/Swiss-Prot : 72 Multiple congenital anomalies-hypotonia-seizures syndrome 1: An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age.

Related Diseases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 multiple congenital anomalies-hypotonia-seizures syndrome 3 30.9 PIGT PGAP2
2 hypotonia 30.2 PIGT PIGN PIGG
3 multiple congenital anomalies-hypotonia-seizures syndrome 30.2 PIGV PIGT PIGO PIGN PIGL PIGG
4 multiple congenital anomalies-hypotonia-seizures syndrome 2 29.4 PIGV PIGT PIGO PIGL PIGG PGAP2
5 multiple congenital anomalies-hypotonia-seizures syndrome 4 10.9
6 seizure disorder 10.5
7 encephalopathy 10.4
8 paroxysmal nocturnal hemoglobinuria 10.3
9 hemoglobinuria 10.3
10 pectus excavatum 10.2
11 cryptorchidism, unilateral or bilateral 10.2
12 cerebral visual impairment 10.2
13 anorectal anomalies 10.2
14 chorea, childhood-onset, with psychomotor retardation 10.2
15 west syndrome 10.2
16 choreatic disease 10.2
17 hypophosphatasia 10.2
18 hemolytic anemia 10.2
19 gastroesophageal reflux 9.9
20 hypertelorism 9.9
21 alacrima, achalasia, and mental retardation syndrome 9.9
22 epilepsy 9.9
23 bleeding disorder, platelet-type, 9 9.8 PIGT PIGL
24 congenital muscular dystrophy-dystroglycanopathy type a2 9.7 PIGV PIGL
25 diaphragmatic hernia, congenital 9.6 PIGV PIGN
26 hyperphosphatasia with mental retardation syndrome 1 9.5 PIGV PIGO PIGG
27 coloboma of macula 9.2 PIGV PIGO PIGL PGAP2
28 hyperphosphatasia-intellectual disability syndrome 9.0 PIGV PIGO PIGL PIGG PGAP2
29 autosomal recessive non-syndromic intellectual disability 8.8 PIGV PIGO PIGN PIGL PIGG PGAP2
30 anterior segment dysgenesis 4 8.5 PIGV PIGT PIGO PIGN PIGL PIGG

Graphical network of the top 20 diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:



Diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Symptoms & Phenotypes for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Human phenotypes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:

58 31 (show top 50) (show all 117)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Occasional (29-5%) HP:0001347
2 macrocephaly 31 frequent (33%) HP:0000256
3 choreoathetosis 31 frequent (33%) HP:0001266
4 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
5 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
6 congenital diaphragmatic hernia 31 occasional (7.5%) HP:0000776
7 pulmonary hypoplasia 31 occasional (7.5%) HP:0002089
8 ureteral hypoplasia 31 very rare (1%) HP:0032464
9 nystagmus 58 31 Very frequent (99-80%) HP:0000639
10 tremor 58 31 Frequent (79-30%) HP:0001337
11 high palate 58 31 Frequent (79-30%) HP:0000218
12 coarse facial features 58 31 Frequent (79-30%) HP:0000280
13 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
14 hypertelorism 58 31 Occasional (29-5%) HP:0000316
15 short nose 58 31 Occasional (29-5%) HP:0003196
16 anteverted nares 58 31 Occasional (29-5%) HP:0000463
17 gastroesophageal reflux 58 31 Frequent (79-30%) HP:0002020
18 epicanthus 58 31 Occasional (29-5%) HP:0000286
19 atrial septal defect 58 31 Occasional (29-5%) HP:0001631
20 anal atresia 58 31 Occasional (29-5%) HP:0002023
21 overfolded helix 58 31 Occasional (29-5%) HP:0000396
22 patent ductus arteriosus 58 31 Occasional (29-5%) HP:0001643
23 hydronephrosis 58 31 Occasional (29-5%) HP:0000126
24 amblyopia 58 31 Occasional (29-5%) HP:0000646
25 hyporeflexia 58 31 Frequent (79-30%) HP:0001265
26 anal stenosis 58 31 Occasional (29-5%) HP:0002025
27 hydrocele testis 58 31 Occasional (29-5%) HP:0000034
28 large fleshy ears 58 31 Occasional (29-5%) HP:0002265
29 intellectual disability 31 HP:0001249
30 seizures 58 Very frequent (99-80%)
31 spasticity 31 HP:0001257
32 frontal bossing 31 HP:0002007
33 dysphagia 58 Occasional (29-5%)
34 short neck 58 Occasional (29-5%)
35 depressed nasal bridge 31 HP:0005280
36 gingival overgrowth 58 Occasional (29-5%)
37 microtia 58 Occasional (29-5%)
38 smooth philtrum 58 Occasional (29-5%)
39 feeding difficulties in infancy 58 Frequent (79-30%)
40 full cheeks 58 Occasional (29-5%)
41 strabismus 58 Frequent (79-30%)
42 absent speech 31 HP:0001344
43 cleft palate 31 HP:0000175
44 prominent occiput 58 Occasional (29-5%)
45 micrognathia 31 HP:0000347
46 low-set ears 31 HP:0000369
47 proximal muscle weakness in lower limbs 58 Occasional (29-5%)
48 wide mouth 58 Occasional (29-5%)
49 narrow mouth 58 Occasional (29-5%)
50 open mouth 31 HP:0000194

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
spasticity
hyperreflexia
tremor
more
Head And Neck Eyes:
nystagmus
hypertelorism
epicanthal folds
wandering eyes

Abdomen Gastrointestinal:
gastroesophageal reflux
anal stenosis
imperforate anus

Head And Neck Ears:
low-set ears
posteriorly rotated ears
cupped ears
overfolded helices
large, fleshy ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary Kidneys:
hydronephrosis
hydrocele
dysplastic kidney (in some patients)

Growth Weight:
increased birth weight

Skeletal Feet:
hypoplasia of the distal phalanges

Respiratory Lung:
lung hypoplasia (in some patients)

Genitourinary Ureters:
hypoplasia of the ureter (1 patient)
redundant ureter (1 patient)

Skeletal Pelvis:
narrow inferior iliacs

Laboratory Abnormalities:
decreased expression of gpi-anchored proteins

Head And Neck Face:
frontal bossing
micrognathia
long philtrum
coarse facies
bitemporal narrowing

Head And Neck Nose:
depressed nasal bridge
small nose
upturned nares

Head And Neck Mouth:
cleft palate
open mouth
high-arched palate
thin lips

Cardiovascular Heart:
atrial septal defect
persistent foramen ovale

Cardiovascular Vascular:
patent ductus arteriosus

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
hypoplasia of the distal phalanges

Chest Diaphragm:
diaphragmatic hernia (in some patients)

Head And Neck Head:
macrocephaly (2 patients)
prominent sutures

Genitourinary Bladder:
vesicoureteral reflux (1 patient)
trabecular bladder (2 patients)

Skin Nails Hair Skin:
deep plantar crease

Clinical features from OMIM®:

614080 (Updated 05-Apr-2021)

UMLS symptoms related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:


seizures; tremor; muscle spasticity

Drugs & Therapeutics for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Search Clinical Trials , NIH Clinical Center for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Genetic Tests for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Genetic tests related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:

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

Anatomical Context for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

MalaCards organs/tissues related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:

40
Testis, Kidney, Lung

Publications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Articles related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:

(show all 16)
# Title Authors PMID Year
1
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 6 57 61
26394714 2016
2
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. 61 57 6
26364997 2016
3
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 6 57
27038415 2016
4
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 57 6
26419326 2016
5
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. 6 57
24253414 2014
6
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. 6 57
21493957 2011
7
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. 61 6
29330547 2018
8
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. 57
29310717 2018
9
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. 6
29096607 2017
10
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. 6
28327575 2017
11
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. 6
26879448 2016
12
Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1. 61
33193741 2020
13
[Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature]. 61
28273706 2017
14
PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis. 61
27980068 2017
15
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. 61
27891564 2017
16
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 61
25920937 2015

Variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

ClinVar genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:

6 (show top 50) (show all 315)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGN NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) SNV Pathogenic 30549 rs397514475 GRCh37: 18:59763135-59763135
GRCh38: 18:62095902-62095902
2 PIGN NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter) SNV Pathogenic 264635 rs749334082 GRCh37: 18:59756019-59756019
GRCh38: 18:62088786-62088786
3 PIGN NM_176787.5(PIGN):c.694A>T (p.Lys232Ter) SNV Pathogenic 264641 rs886039218 GRCh37: 18:59814315-59814315
GRCh38: 18:62147082-62147082
4 PIGN NM_176787.5(PIGN):c.324_549+196del Deletion Pathogenic 264638 GRCh37: 18:59821582-59824939
GRCh38: 18:62154349-62157706
5 PIGN NM_176787.5(PIGN):c.1966C>T (p.Gln656Ter) SNV Pathogenic 264639 rs886039217 GRCh37: 18:59770029-59770029
GRCh38: 18:62102796-62102796
6 PIGN NM_176787.5(PIGN):c.755A>T (p.Asp252Val) SNV Pathogenic 264634 rs886039216 GRCh37: 18:59814254-59814254
GRCh38: 18:62147021-62147021
7 overlap with 3 genes NC_000018.10:g.(?_62045836)_(62464074_?)del Deletion Pathogenic 833006 GRCh37: 18:59713069-60131307
GRCh38:
8 PIGN NM_176787.5(PIGN):c.2439_2440CT[1] (p.Ser814fs) Microsatellite Pathogenic 843074 GRCh37: 18:59751824-59751825
GRCh38: 18:62084591-62084592
9 PIGN NM_176787.5(PIGN):c.329_549+1907del Deletion Pathogenic 856025 GRCh37: 18:59819871-59824934
GRCh38: 18:62152638-62157701
10 PIGN NM_176787.5(PIGN):c.2189_2190CT[2] (p.Phe732fs) Microsatellite Pathogenic 850806 GRCh37: 18:59757798-59757799
GRCh38: 18:62090565-62090566
11 PIGN NM_176787.5(PIGN):c.1494dup (p.Leu499fs) Duplication Pathogenic 658963 rs750418747 GRCh37: 18:59777146-59777147
GRCh38: 18:62109913-62109914
12 PIGN NC_000018.10:g.(?_62154545)_(62157808_?)del Deletion Pathogenic 659593 GRCh37: 18:59821778-59825041
GRCh38: 18:62154545-62157808
13 PIGN NM_176787.5(PIGN):c.1688dup (p.Tyr564fs) Duplication Pathogenic 641992 rs768557691 GRCh37: 18:59774100-59774101
GRCh38: 18:62106867-62106868
14 PIGN NC_000018.10:g.(?_62088736)_(62143366_?)del Deletion Pathogenic 583957 GRCh37: 18:59755969-59810599
GRCh38: 18:62088736-62143366
15 PIGN NM_176787.5(PIGN):c.1258del (p.Leu420fs) Deletion Pathogenic 472207 rs1555685797 GRCh37: 18:59780543-59780543
GRCh38: 18:62113310-62113310
16 PIGN NM_176787.5(PIGN):c.1485del (p.Ala496fs) Deletion Pathogenic 935634 GRCh37: 18:59777156-59777156
GRCh38: 18:62109923-62109923
17 PIGN NM_176787.5(PIGN):c.2443_2450del (p.Val815fs) Deletion Pathogenic 935812 GRCh37: 18:59751816-59751823
GRCh38: 18:62084583-62084590
18 PIGN NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs) Deletion Pathogenic 871597 GRCh37: 18:59781794-59781798
GRCh38: 18:62114561-62114565
19 PIGN NM_176787.5(PIGN):c.421dup (p.Ile141fs) Duplication Pathogenic 446119 rs1555696769 GRCh37: 18:59824382-59824383
GRCh38: 18:62157149-62157150
20 PIGN Deletion Pathogenic 446120 GRCh37: 18:59819870-59824934
GRCh38: 18:62152637-62157701
21 PIGN NM_176787.5(PIGN):c.808T>C (p.Ser270Pro) SNV Pathogenic 101047 rs587777186 GRCh37: 18:59813256-59813256
GRCh38: 18:62146023-62146023
22 PIGN NM_176787.5(PIGN):c.505C>T (p.Gln169Ter) SNV Pathogenic 944243 GRCh37: 18:59821822-59821822
GRCh38: 18:62154589-62154589
23 PIGN NM_176787.5(PIGN):c.620del (p.Phe207fs) Deletion Pathogenic 965177 GRCh37: 18:59815501-59815501
GRCh38: 18:62148268-62148268
24 PIGN NM_176787.5(PIGN):c.1674+1G>C SNV Pathogenic 264640 rs376355678 GRCh37: 18:59774218-59774218
GRCh38: 18:62106985-62106985
25 PIGN NM_176787.5(PIGN):c.1717dup (p.Thr573fs) Duplication Pathogenic 488578 rs1555683948 GRCh37: 18:59774071-59774072
GRCh38: 18:62106838-62106839
26 PIGN NM_176787.5(PIGN):c.963G>A (p.Gln321=) SNV Pathogenic 101048 rs587777187 GRCh37: 18:59810539-59810539
GRCh38: 18:62143306-62143306
27 PIGN NM_176787.5(PIGN):c.548_549+6del Deletion Pathogenic 264637 rs779636222 GRCh37: 18:59821772-59821779
GRCh38: 18:62154539-62154546
28 PIGN NM_176787.5(PIGN):c.981dup (p.Met328fs) Duplication Pathogenic 598225 rs776697598 GRCh37: 18:59807694-59807695
GRCh38: 18:62140461-62140462
29 PIGN NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) SNV Pathogenic 426983 rs746882521 GRCh37: 18:59810570-59810570
GRCh38: 18:62143337-62143337
30 PIGN NM_176787.5(PIGN):c.2397dup (p.Gly800fs) Duplication Pathogenic 846655 GRCh37: 18:59752470-59752471
GRCh38: 18:62085237-62085238
31 PIGN NM_176787.5(PIGN):c.1189A>T (p.Lys397Ter) SNV Pathogenic 851133 GRCh37: 18:59781856-59781856
GRCh38: 18:62114623-62114623
32 PIGN NM_176787.5(PIGN):c.2672+1G>T SNV Pathogenic 449284 rs1287655964 GRCh37: 18:59739905-59739905
GRCh38: 18:62072672-62072672
33 PIGN NM_176787.5(PIGN):c.1434+5G>A SNV Pathogenic 264636 rs369486176 GRCh37: 18:59780362-59780362
GRCh38: 18:62113129-62113129
34 PIGN NM_176787.5(PIGN):c.1660G>A (p.Gly554Arg) SNV Pathogenic 1027678 GRCh37: 18:59774233-59774233
GRCh38: 18:62107000-62107000
35 PIGN NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) SNV Pathogenic/Likely pathogenic 581123 rs376226764 GRCh37: 18:59774030-59774030
GRCh38: 18:62106797-62106797
36 PIGN NM_176787.5(PIGN):c.2284-1G>C SNV Pathogenic/Likely pathogenic 426235 rs760977825 GRCh37: 18:59756076-59756076
GRCh38: 18:62088843-62088843
37 PIGN NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) SNV Pathogenic/Likely pathogenic 944547 GRCh37: 18:59828424-59828424
GRCh38: 18:62161191-62161191
38 PIGN NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) SNV Likely pathogenic 648403 rs374704368 GRCh37: 18:59824979-59824979
GRCh38: 18:62157746-62157746
39 PIGN NM_176787.5(PIGN):c.674+1G>A SNV Likely pathogenic 505688 rs1555694770 GRCh37: 18:59815446-59815446
GRCh38: 18:62148213-62148213
40 PIGN NM_176787.5(PIGN):c.548_549+6del Deletion Likely pathogenic 264637 rs779636222 GRCh37: 18:59821772-59821779
GRCh38: 18:62154539-62154546
41 PIGN NM_176787.5(PIGN):c.2062A>C (p.Ser688Arg) SNV Likely pathogenic 807656 rs1251827296 GRCh37: 18:59768323-59768323
GRCh38: 18:62101090-62101090
42 PIGN NM_176787.5(PIGN):c.2271_2283+1del Deletion Likely pathogenic 970289 GRCh37: 18:59757708-59757721
GRCh38: 18:62090475-62090488
43 PIGN NM_176787.5(PIGN):c.328_549+1908del Deletion Likely pathogenic 970613 GRCh37: 18:59819870-59824935
GRCh38: 18:62152637-62157702
44 PIGN NM_176787.5(PIGN):c.1557G>A (p.Trp519Ter) SNV Likely pathogenic 982424 GRCh37: 18:59777084-59777084
GRCh38: 18:62109851-62109851
45 PIGN NM_176787.5(PIGN):c.344-1G>T SNV Likely pathogenic 948202 GRCh37: 18:59824461-59824461
GRCh38: 18:62157228-62157228
46 PIGN NM_176787.5(PIGN):c.805+2T>C SNV Likely pathogenic 937221 GRCh37: 18:59814202-59814202
GRCh38: 18:62146969-62146969
47 PIGN NM_176787.5(PIGN):c.160C>T (p.Leu54Phe) SNV Likely pathogenic 803506 rs1599663316 GRCh37: 18:59828427-59828427
GRCh38: 18:62161194-62161194
48 PIGN NC_000018.9:g.(?_59755969)_(59770155_?)dup Duplication Likely pathogenic 641553 GRCh37: 18:59755969-59770155
GRCh38: 18:62088736-62102922
49 PIGN NM_176787.5(PIGN):c.963+1G>T SNV Likely pathogenic 582440 rs1568224018 GRCh37: 18:59810538-59810538
GRCh38: 18:62143305-62143305
50 PIGN NM_176787.5(PIGN):c.1860-1G>A SNV Likely pathogenic 662809 rs1599525360 GRCh37: 18:59770136-59770136
GRCh38: 18:62102903-62102903

UniProtKB/Swiss-Prot genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 PIGN p.Arg709Gln VAR_066402 rs397514475

Expression for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Search GEO for disease gene expression data for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1.

Pathways for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Pathways related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 PIGV PIGT PIGO PIGN PIGL PIGG
2
Show member pathways
11.43 PIGV PIGT PIGO PIGN PIGL PIGG
3
Show member pathways
10.71 PIGV PIGT PIGO PIGN PIGL PIGG

GO Terms for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Cellular components related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.8 PIGV PIGT PIGO PIGN PIGL PIGG
2 integral component of membrane GO:0016021 9.7 PIGV PIGT PIGO PIGN PIGL PIGG
3 endoplasmic reticulum GO:0005783 9.5 PIGV PIGT PIGO PIGN PIGL PIGG
4 integral component of endoplasmic reticulum membrane GO:0030176 9.32 PIGT PIGG
5 endoplasmic reticulum membrane GO:0005789 9.17 PIGV PIGT PIGO PIGN PIGL PIGG

Biological processes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 9.26 PIGV PIGN PIGL PIGG
2 GPI anchor biosynthetic process GO:0006506 9.17 PIGV PIGT PIGO PIGN PIGL PIGG

Molecular functions related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.46 PIGV PIGO PIGN PIGG
2 catalytic activity GO:0003824 9.13 PIGO PIGN PIGG
3 mannose-ethanolamine phosphotransferase activity GO:0051377 8.8 PIGO PIGN PIGG

Sources for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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