Multiple congenital anomalies-hypotonia-seizures syndrome 2

Preferred Label : Multiple congenital anomalies-hypotonia-seizures syndrome 2;

Symbol : MCAHS2;

CISMeF acronym : EIEE20; GPIBD4; MCAHS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GPIBD4; EIEE20; Epileptic encephalopathy, early infantile, 20; Glycosylphosphatidylinositol biosynthesis defect 4; Developmental and epileptic encephalopathy 20; DEE20;

Description : Multiple congenital anomalies-hypotonia-seizures syndrome-2 is 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 (summary by Johnston et al., 2012). For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol glycan, class A gene (PIGA, 311770.0011);

Laboratory abnormalities : Increased serum alkaline phosphatase (in some patients);

Prefixed ID : #300868;

Details

Origin ID

300868;

UMLS CUI

C3275508;

Currated CISMeF NLP mapping
- Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder) [SNOMED CT concept]
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 [ORDO Disease]
- multiple congenital anomalies hypotonia seizures syndrome 2 [Disease (Nov.)]
- multiple congenital anomalies-hypotonia-seizures syndrome 2 [DO Concept]
DO Cross reference
- multiple congenital anomalies-hypotonia-seizures syndrome 2 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class a protein [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal pons morphology [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Absent septum pellucidum [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Birth length greater than 97th percentile [HPO term]
- Central hypotonia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Cirrhosis [HPO term]
- Coarse facial features [HPO term]
- Death in infancy [HPO term]
- Delayed myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Duplicated collecting system [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated hepatic iron concentration [HPO term]
- Epileptic encephalopathy [HPO term]
- Flexion contracture [HPO term]
- Generalized myoclonic seizure [HPO term]
- Gingival overgrowth [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- Hydrops fetalis [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Ichthyosis [HPO term]
- Increased head circumference [HPO term]
- Large fontanelles [HPO term]
- Large for gestational age [HPO term]
- Lower limb spasticity [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Narrow mouth [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Olfactory lobe agenesis [HPO term]
- Overfolded helix [HPO term]
- Overgrowth [HPO term]
- Polyhydramnios [HPO term]
- Prominent occiput [HPO term]
- Seborrheic dermatitis [HPO term]
- Secondary microcephaly [HPO term]
- Short neck [HPO term]
- Small nail [HPO term]
- Spasticity [HPO term]
- Triangular mouth [HPO term]
- Upper limb spasticity [HPO term]
- Upslanted palpebral fissure [HPO term]
- Variable expressivity [HPO term]
- Vesicoureteral reflux [HPO term]
- Widely spaced teeth [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 [ORDO Disease]
See also inter- (CISMeF)
- PIGA wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 [ORDO Disease]
- multiple congenital anomalies hypotonia seizures syndrome 2 [Disease (Nov.)]
- multiple congenital anomalies-hypotonia-seizures syndrome 2 [DO Concept]

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