MCID: MLT127
MIFTS: 39

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal 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 75 29 6 15 73
Glycosylphosphatidylinositol Biosynthesis Defect 7 57 75
Mcahs3 57 75
Gpibd7 57 75
Intellectual Disability-Seizures-Hypotonia-Ophthalmologic-Skeletal Anomalies Syndrome 59
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3 ) 40
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 59
Congenital Disorder of Glycosylation Due to Pigt Deficiency 59
Glycosylphosphatidylinositol Biosynthesis Defect 7; Gpibd7 57
Mcahs Type 3 59
Pigt-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
some features are variably expressed
one family and an unrelated patient have been reported (last curated january 2016)


HPO:

32
multiple congenital anomalies-hypotonia-seizures syndrome 3:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



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)

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 Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include eye and bone, and related phenotypes are macrocephaly and pectus excavatum

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum

Skeletal:
osteopenia
osteoporosis
delayed bone age

Skeletal Spine:
scoliosis

Head And Neck Head:
brachycephaly
macrocephaly, mild

Cardiovascular Vascular:
patent ductus arteriosus

Laboratory Abnormalities:
hypercalciuria
decreased alkaline phosphatase
increased serum calcium

Genitourinary Kidneys:
nephrocalcinosis
renal cysts

Cardiovascular Heart:
restrictive cardiomyopathy

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

Growth Other:
macrosomia, mild

Head And Neck Eyes:
nystagmus
strabismus
hyperopia
abnormal eye movements
impaired vision

Neurologic Central Nervous System:
seizures
cerebellar hypoplasia
cerebral atrophy
delayed psychomotor development
eeg abnormalities
more
Head And Neck Nose:
depressed nasal bridge

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

Chest Breasts:
inverted nipples

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

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


Clinical features from OMIM:

615398

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

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 pectus excavatum 32 HP:0000767
3 high palate 32 HP:0000218
4 nystagmus 32 HP:0000639
5 osteopenia 32 HP:0000938
6 seizures 32 HP:0001250
7 eeg abnormality 32 HP:0002353
8 scoliosis 32 HP:0002650
9 global developmental delay 32 HP:0001263
10 delayed skeletal maturation 32 HP:0002750
11 depressed nasal bridge 32 HP:0005280
12 abnormality of the dentition 32 HP:0000164
13 visual impairment 32 HP:0000505
14 osteoporosis 32 HP:0000939
15 brachycephaly 32 HP:0000248
16 long philtrum 32 HP:0000343
17 strabismus 32 HP:0000486
18 patent ductus arteriosus 32 HP:0001643
19 inverted nipples 32 HP:0003186
20 hypercalciuria 32 HP:0002150
21 cerebellar hypoplasia 32 HP:0001321
22 open mouth 32 HP:0000194
23 downturned corners of mouth 32 HP:0002714
24 nephrocalcinosis 32 HP:0000121
25 deep philtrum 32 HP:0002002
26 high forehead 32 HP:0000348
27 hypoplasia of the ulna 32 HP:0003022
28 large for gestational age 32 HP:0001520
29 cerebral atrophy 32 HP:0002059
30 renal cyst 32 HP:0000107
31 generalized hypotonia 32 HP:0001290
32 ureteral stenosis 32 HP:0000071
33 hypermetropia 32 HP:0000540
34 restrictive cardiomyopathy 32 HP:0001723
35 narrow forehead 32 HP:0000341

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


seizures

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:

41
Eye, Bone

Publications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

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

# Title Authors Year
1
Homozygous <i>PIGT</i> Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3. ( 29868109 )
2018
2
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. ( 27916860 )
2016
3
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. ( 24906948 )
2014

Variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

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

75
# Symbol AA change Variation ID SNP ID
1 PIGT p.Thr183Pro VAR_070448 rs587777027

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGT NM_015937.5(PIGT): c.547A> C (p.Thr183Pro) single nucleotide variant Pathogenic rs587777027 GRCh37 Chromosome 20, 44047988: 44047988
2 PIGT NM_015937.5(PIGT): c.547A> C (p.Thr183Pro) single nucleotide variant Pathogenic rs587777027 GRCh38 Chromosome 20, 45419348: 45419348
3 PIGT NM_015937.5(PIGT): c.1342C> T (p.Arg448Trp) single nucleotide variant Pathogenic rs527236031 GRCh37 Chromosome 20, 44052963: 44052963
4 PIGT NM_015937.5(PIGT): c.1342C> T (p.Arg448Trp) single nucleotide variant Pathogenic rs527236031 GRCh38 Chromosome 20, 45424323: 45424323
5 PIGT NM_015937.5(PIGT): c.918_919insT (p.Val307Cysfs) insertion Pathogenic rs527236032 GRCh37 Chromosome 20, 44049218: 44049219
6 PIGT NM_015937.5(PIGT): c.918_919insT (p.Val307Cysfs) insertion Pathogenic rs527236032 GRCh38 Chromosome 20, 45420578: 45420579
7 PIGT NM_015937.5(PIGT): c.250G> T (p.Glu84Ter) single nucleotide variant Pathogenic rs756632799 GRCh37 Chromosome 20, 44045219: 44045219
8 PIGT NM_015937.5(PIGT): c.250G> T (p.Glu84Ter) single nucleotide variant Pathogenic rs756632799 GRCh38 Chromosome 20, 45416579: 45416579
9 PIGT NM_015937.5(PIGT): c.1067G> A (p.Arg356Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139366969 GRCh38 Chromosome 20, 45421416: 45421416
10 PIGT NM_015937.5(PIGT): c.1067G> A (p.Arg356Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139366969 GRCh37 Chromosome 20, 44050056: 44050056
11 PIGT NM_015937.5(PIGT): c.634C> T (p.His212Tyr) single nucleotide variant Uncertain significance rs574183358 GRCh37 Chromosome 20, 44048183: 44048183
12 PIGT NM_015937.5(PIGT): c.634C> T (p.His212Tyr) single nucleotide variant Uncertain significance rs574183358 GRCh38 Chromosome 20, 45419543: 45419543
13 PIGT NM_015937.5(PIGT): c.533G> A (p.Arg178Gln) single nucleotide variant Benign rs80158178 GRCh37 Chromosome 20, 44047974: 44047974
14 PIGT NM_015937.5(PIGT): c.533G> A (p.Arg178Gln) single nucleotide variant Benign rs80158178 GRCh38 Chromosome 20, 45419334: 45419334
15 PIGT NM_015937.5(PIGT): c.494-5C> T single nucleotide variant Likely benign rs201944222 GRCh37 Chromosome 20, 44047930: 44047930
16 PIGT NM_015937.5(PIGT): c.494-5C> T single nucleotide variant Likely benign rs201944222 GRCh38 Chromosome 20, 45419290: 45419290

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

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 cell surface GO:0009986 9.33 CD55 CD59 TF
2 anchored component of membrane GO:0031225 9.26 CD55 CD59
3 transport vesicle GO:0030133 8.96 CD55 CD59
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.62 CD55 CD59

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 regulation of complement activation GO:0030449 8.62 CD55 CD59

Sources for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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