Multiple congenital anomalies-hypotonia-seizures syndrome 1

Preferred Label : Multiple congenital anomalies-hypotonia-seizures syndrome 1;

Symbol : MCAHS1;

CISMeF acronym : GPIBD3; MCAHS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycosylphosphatidylinositol biosynthesis defect 3; GPIBD3;

Description : 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). - Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol glycan, class N gene (PIGN, 606097.0001);

Laboratory abnormalities : Decreased expression of GPI-anchored proteins;

Prefixed ID : #614080;

Details

Origin ID

614080;

UMLS CUI

C3279775;

Currated CISMeF NLP mapping
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 [NCIt concept]
- multiple congenital anomalies-hypotonia-seizures syndrome 1 [DO Concept]
DO Cross reference
- multiple congenital anomalies-hypotonia-seizures syndrome 1 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class n protein [OMIM gene]
HPO term(s)
- Abnormal ilium morphology [HPO term]
- Absent speech [HPO term]
- Amblyopia [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bladder trabeculation [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Choreoathetosis [HPO term]
- Cleft palate [HPO term]
- Coarse facial features [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital onset [HPO term]
- Cupped ear [HPO term]
- Deep plantar creases [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hydrocele testis [HPO term]
- Hydronephrosis [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Large fleshy ears [HPO term]
- Large for gestational age [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Nystagmus [HPO term]
- Open mouth [HPO term]
- Overfolded helix [HPO term]
- Patent ductus arteriosus [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal dysplasia [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nose [HPO term]
- Spasticity [HPO term]
- Thin vermilion border [HPO term]
- Tremor [HPO term]
- Ureteral duplication [HPO term]
- Ureteral hypoplasia [HPO term]
- Variable expressivity [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Multiple congenital anomalies-hypotonia-seizures syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 [NCIt concept]
- Multiple congenital anomalies-hypotonia-seizures syndrome [ORDO Disease]
- multiple congenital anomalies-hypotonia-seizures syndrome 1 [DO Concept]
Validated automatic mappings to NTBT
- Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) [SNOMED CT concept]
- Multiple congenital anomalies-hypotonia-seizures syndrome [ORDO Disease]

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