MCAHS3
MCID: MLT127
MIFTS: 45

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3)

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 3

MalaCards integrated aliases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:

Name: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 57 12 72 29 6 15 70
Glycosylphosphatidylinositol Biosynthesis Defect 7 57 72
Mcahs3 57 72
Gpibd7 57 72
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome 58
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3 39
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 58
Congenital Disorder of Glycosylation Due to Pigt Deficiency 58
Glycosylphosphatidylinositol Biosynthesis Defect 7; Gpibd7 57
Mcahs Type 3 58
Pigt-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy
some features are variably expressed


HPO:

31
multiple congenital anomalies-hypotonia-seizures syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

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


Summaries for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

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 (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (615398) (Updated 05-Apr-2021)

MalaCards based summary : Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3, also known as glycosylphosphatidylinositol biosynthesis defect 7, is related to multiple congenital anomalies-hypotonia-seizures syndrome and hypotonia, and has symptoms including seizures An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 is PIGT (Phosphatidylinositol Glycan Anchor Biosynthesis Class T), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include bone, eye and brain, and related phenotypes are nystagmus and osteopenia

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 that has material basis in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.

UniProtKB/Swiss-Prot : 72 Multiple congenital anomalies-hypotonia-seizures syndrome 3: An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes.

Related Diseases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Graphical network of the top 20 diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:



Diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Symptoms & Phenotypes for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Human phenotypes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:

58 31 (show top 50) (show all 99)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
7 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
8 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
9 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
10 cerebral visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100704
11 narrow forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000341
12 hypotonia 31 hallmark (90%) HP:0001252
13 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
14 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
15 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
16 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
17 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
18 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
19 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
20 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
21 hypercalciuria 58 31 frequent (33%) Frequent (79-30%) HP:0002150
22 hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0003072
23 congenital megaureter 58 31 frequent (33%) Frequent (79-30%) HP:0008676
24 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
25 upper limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009824
26 low alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003282
27 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
28 generalized tonic seizure 31 frequent (33%) HP:0010818
29 generalized myoclonic seizure 31 frequent (33%) HP:0002123
30 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
31 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
32 hypertriglyceridemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002155
33 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
34 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
35 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
36 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
37 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
38 inverted nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0003186
39 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
40 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
41 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
42 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
43 hypoparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000829
44 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
45 tented upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010804
46 abnormal lung lobation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002101
47 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
48 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
49 renal cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0000107
50 obstructive sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002870

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
cerebellar hypoplasia
babinski sign
cerebellar atrophy
more
Head And Neck Eyes:
nystagmus
strabismus
esotropia
hyperopia
abnormal eye movements
more
Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares

Head And Neck Ears:
low-set ears

Chest Breasts:
inverted nipples

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
long philtrum
deep philtrum
high forehead
bitemporal narrowing

Genitourinary Ureters:
ureteral stenosis
ureteral dilation

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
tooth abnormalities
premature loss of incisors

Skeletal Skull:
abnormal skull shape
premature close of sutures

Skeletal Spine:
scoliosis

Skeletal:
osteopenia
osteoporosis
delayed bone age

Head And Neck Head:
brachycephaly
macrocephaly, mild

Chest External Features:
pectus excavatum

Head And Neck Mouth:
open mouth
high-arched palate
downturned corners of the mouth
tented lips

Genitourinary Kidneys:
nephrocalcinosis
renal cysts

Laboratory Abnormalities:
hypercalciuria
decreased alkaline phosphatase
increased serum calcium

Cardiovascular Heart:
restrictive cardiomyopathy

Skeletal Limbs:
short ulnae
secondary ossification centers
wide and long femoral necks

Growth Other:
macrosomia, mild

Clinical features from OMIM®:

615398 (Updated 05-Apr-2021)

UMLS symptoms related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:


seizures

GenomeRNAi Phenotypes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased p24 protein expression GR00163-A-1 8.62 PIGK PIGY

Drugs & Therapeutics for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Search Clinical Trials , NIH Clinical Center for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Genetic Tests for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Genetic tests related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:

# Genetic test Affiliating Genes
1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 29 PIGT

Anatomical Context for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

MalaCards organs/tissues related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:

40
Bone, Eye, Brain, Lung, Heart, Retina

Publications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Articles related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:

# Title Authors PMID Year
1
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. 61 57 6
27916860 2016
2
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. 61 6 57
25943031 2015
3
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. 6 57 61
24906948 2014
4
Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. 6 57
28728837 2018
5
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. 6 57
23636107 2013
6
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. 57
21493957 2011
7
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3. 61
33620284 2021
8
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients. 61
32725661 2020
9
Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS). 61
32220244 2020
10
Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3. 61
29868109 2018

Variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

ClinVar genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:

6 (show all 45)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGT NM_015937.6(PIGT):c.918_919insT (p.Val307fs) Insertion Pathogenic 143195 rs527236032 GRCh37: 20:44049218-44049219
GRCh38: 20:45420578-45420579
2 PIGT NM_015937.6(PIGT):c.250G>T (p.Glu84Ter) SNV Pathogenic 225546 rs756632799 GRCh37: 20:44045219-44045219
GRCh38: 20:45416579-45416579
3 PIGT NM_015937.6(PIGT):c.547A>C (p.Thr183Pro) SNV Pathogenic 64649 rs587777027 GRCh37: 20:44047988-44047988
GRCh38: 20:45419348-45419348
4 PIGT NM_015937.6(PIGT):c.57del (p.Trp20fs) Deletion Pathogenic 576071 rs763009552 GRCh37: 20:44044853-44044853
GRCh38: 20:45416213-45416213
5 PIGT NM_015937.6(PIGT):c.835C>T (p.Arg279Ter) SNV Pathogenic 660514 rs199968454 GRCh37: 20:44049037-44049037
GRCh38: 20:45420397-45420397
6 PIGT NM_015937.6(PIGT):c.1096G>T (p.Gly366Trp) SNV Pathogenic 619956 rs571714796 GRCh37: 20:44050085-44050085
GRCh38: 20:45421445-45421445
7 PIGT NM_015937.6(PIGT):c.796C>T (p.Arg266Ter) SNV Pathogenic 639214 rs754517456 GRCh37: 20:44048998-44048998
GRCh38: 20:45420358-45420358
8 PIGT NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) SNV Pathogenic 451026 rs1277383877 GRCh37: 20:44050068-44050068
GRCh38: 20:45421428-45421428
9 PIGT NM_015937.6(PIGT):c.918dup (p.Val307fs) Duplication Pathogenic 503770 rs751861982 GRCh37: 20:44049217-44049218
GRCh38: 20:45420577-45420578
10 PIGT NM_015937.6(PIGT):c.494-2A>G SNV Pathogenic/Likely pathogenic 583283 rs200790673 GRCh37: 20:44047933-44047933
GRCh38: 20:45419293-45419293
11 PIGT NM_015937.6(PIGT):c.1582G>A (p.Val528Met) SNV Likely pathogenic 440973 rs771157170 GRCh37: 20:44054311-44054311
GRCh38: 20:45425671-45425671
12 PIGT NM_015937.6(PIGT):c.550G>A (p.Glu184Lys) SNV Likely pathogenic 547166 rs774753616 GRCh37: 20:44047991-44047991
GRCh38: 20:45419351-45419351
13 PIGT NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) SNV Likely pathogenic 143194 rs527236031 GRCh37: 20:44052963-44052963
GRCh38: 20:45424323-45424323
14 PIGT NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) SNV Conflicting interpretations of pathogenicity 576072 rs778531326 GRCh37: 20:44047955-44047955
GRCh38: 20:45419315-45419315
15 PIGT NM_015937.6(PIGT):c.22G>T (p.Ala8Ser) SNV Uncertain significance 580412 rs569386009 GRCh37: 20:44044818-44044818
GRCh38: 20:45416178-45416178
16 PIGT NM_015937.6(PIGT):c.612_613delinsTT (p.Leu204_Leu205=) Indel Uncertain significance 999278 GRCh37: 20:44048161-44048162
GRCh38: 20:45419521-45419522
17 PIGT NM_015937.6(PIGT):c.1519C>T (p.Arg507Trp) SNV Uncertain significance 1003026 GRCh37: 20:44054248-44054248
GRCh38: 20:45425608-45425608
18 PIGT NM_015937.6(PIGT):c.1455C>G (p.Asp485Glu) SNV Uncertain significance 1004318 GRCh37: 20:44053190-44053190
GRCh38: 20:45424550-45424550
19 PIGT NM_015937.6(PIGT):c.1528A>T (p.Thr510Ser) SNV Uncertain significance 644490 rs1600827703 GRCh37: 20:44054257-44054257
GRCh38: 20:45425617-45425617
20 PIGT NM_015937.6(PIGT):c.1711C>T (p.Arg571Cys) SNV Uncertain significance 839867 GRCh37: 20:44054440-44054440
GRCh38: 20:45425800-45425800
21 PIGT NM_015937.6(PIGT):c.1691G>A (p.Arg564Gln) SNV Uncertain significance 983091 GRCh37: 20:44054420-44054420
GRCh38: 20:45425780-45425780
22 PIGT NM_015937.6(PIGT):c.634C>T (p.His212Tyr) SNV Uncertain significance 417893 rs574183358 GRCh37: 20:44048183-44048183
GRCh38: 20:45419543-45419543
23 PIGT NM_015937.6(PIGT):c.949A>G (p.Ile317Val) SNV Uncertain significance 547916 rs773624614 GRCh37: 20:44049249-44049249
GRCh38: 20:45420609-45420609
24 PIGT NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) SNV Uncertain significance 548620 rs1555876854 GRCh37: 20:44048151-44048151
GRCh38: 20:45419511-45419511
25 PIGT NM_015937.6(PIGT):c.806C>T (p.Thr269Met) SNV Uncertain significance 377166 rs149740779 GRCh37: 20:44049008-44049008
GRCh38: 20:45420368-45420368
26 PIGT NM_015937.6(PIGT):c.1045G>A (p.Val349Met) SNV Uncertain significance 1016243 GRCh37: 20:44050034-44050034
GRCh38: 20:45421394-45421394
27 PIGT NM_015937.6(PIGT):c.74C>T (p.Pro25Leu) SNV Uncertain significance 1020310 GRCh37: 20:44044870-44044870
GRCh38: 20:45416230-45416230
28 PIGT NM_015937.6(PIGT):c.1597T>G (p.Cys533Gly) SNV Uncertain significance 1026040 GRCh37: 20:44054326-44054326
GRCh38: 20:45425686-45425686
29 PIGT NM_015937.6(PIGT):c.1730dup (p.Leu578fs) Duplication Uncertain significance 1029418 GRCh37: 20:44054453-44054454
GRCh38: 20:45425813-45425814
30 PIGT NM_015937.6(PIGT):c.1729C>G (p.Pro577Ala) SNV Uncertain significance 1032712 GRCh37: 20:44054458-44054458
GRCh38: 20:45425818-45425818
31 PIGT NM_015937.6(PIGT):c.848A>T (p.Asp283Val) SNV Uncertain significance 1032713 GRCh37: 20:44049050-44049050
GRCh38: 20:45420410-45420410
32 PIGT NM_015937.6(PIGT):c.689G>A (p.Arg230His) SNV Uncertain significance 1041968 GRCh37: 20:44048783-44048783
GRCh38: 20:45420143-45420143
33 PIGT NM_015937.6(PIGT):c.634C>T (p.His212Tyr) SNV Likely benign 417893 rs574183358 GRCh37: 20:44048183-44048183
GRCh38: 20:45419543-45419543
34 PIGT NM_015937.6(PIGT):c.918C>T (p.Asp306=) SNV Likely benign 714586 rs145469946 GRCh37: 20:44049218-44049218
GRCh38: 20:45420578-45420578
35 PIGT NM_015937.6(PIGT):c.494-5C>T SNV Likely benign 541407 rs201944222 GRCh37: 20:44047930-44047930
GRCh38: 20:45419290-45419290
36 PIGT NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln) SNV Likely benign 252703 rs139366969 GRCh37: 20:44050056-44050056
GRCh38: 20:45421416-45421416
37 PIGT NM_015937.6(PIGT):c.531G>A (p.Pro177=) SNV Likely benign 788254 rs138301099 GRCh37: 20:44047972-44047972
GRCh38: 20:45419332-45419332
38 PIGT NM_015937.6(PIGT):c.753G>A (p.Thr251=) SNV Likely benign 747636 rs374179368 GRCh37: 20:44048847-44048847
GRCh38: 20:45420207-45420207
39 PIGT NM_015937.6(PIGT):c.367G>T (p.Val123Leu) SNV Likely benign 252704 rs141420243 GRCh37: 20:44047493-44047493
GRCh38: 20:45418853-45418853
40 PIGT NM_015937.6(PIGT):c.969C>T (p.Thr323=) SNV Benign 784609 rs116312756 GRCh37: 20:44049269-44049269
GRCh38: 20:45420629-45420629
41 PIGT NM_015937.6(PIGT):c.1061C>T (p.Ala354Val) SNV Benign 786683 rs146896700 GRCh37: 20:44050050-44050050
GRCh38: 20:45421410-45421410
42 PIGT NM_015937.6(PIGT):c.675T>C (p.Val225=) SNV Benign 791752 rs147475258 GRCh37: 20:44048224-44048224
GRCh38: 20:45419584-45419584
43 PIGT NM_015937.6(PIGT):c.533G>A (p.Arg178Gln) SNV Benign 474456 rs80158178 GRCh37: 20:44047974-44047974
GRCh38: 20:45419334-45419334
44 PIGT NM_015937.6(PIGT):c.1417G>A (p.Ala473Thr) SNV Benign 714819 rs36056071 GRCh37: 20:44053152-44053152
GRCh38: 20:45424512-45424512
45 PIGT NM_015937.6(PIGT):c.12T>C (p.Ala4=) SNV Benign 741217 rs371353348 GRCh37: 20:44044808-44044808
GRCh38: 20:45416168-45416168

UniProtKB/Swiss-Prot genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 PIGT p.Thr183Pro VAR_070448 rs587777027

Expression for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Search GEO for disease gene expression data for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3.

Pathways for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Pathways related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 PIGY PIGT PIGQ PIGK GPAA1
2
Show member pathways
12.98 PIGT PIGQ PIGK GPAA1
3
Show member pathways
11.25 PIGT PIGQ PIGK GPAA1
4
Show member pathways
10.63 PIGY PIGT PIGQ PIGK GPAA1

GO Terms for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Cellular components related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.85 PIGY PIGT PIGQ PIGK PGAP2 GPAA1
2 integral component of membrane GO:0016021 9.8 PIGY PIGT PIGQ PIGK PGAP2 GPAA1
3 endoplasmic reticulum GO:0005783 9.65 PIGY PIGT PIGK PGAP2 GPAA1
4 endoplasmic reticulum membrane GO:0005789 9.43 PIGY PIGT PIGQ PIGK PGAP2 GPAA1
5 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.16 PIGY PIGQ
6 GPI-anchor transamidase complex GO:0042765 8.8 PIGT PIGK GPAA1

Biological processes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 9.16 PIGY PIGQ
2 attachment of GPI anchor to protein GO:0016255 9.13 PIGT PIGK GPAA1
3 GPI anchor biosynthetic process GO:0006506 9.1 PIGY PIGT PIGQ PIGK PGAP2 GPAA1

Molecular functions related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GPI anchor binding GO:0034235 9.16 PIGK GPAA1
2 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 8.96 PIGY PIGQ
3 GPI-anchor transamidase activity GO:0003923 8.62 PIGK GPAA1

Sources for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

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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