54 articles
MPDU1-CDG
MPDU1-CDG (CDG-If, congenital disorder of glycosylation type If, OMIM 609180) is an ultra-rare autosomal recessive glycosylation disorder from MPDU1 gene mutations at 17p13.1, causing psychomotor delay, seizures, cardiomyopathy, and ichthyosis-like skin changes in neonates and infants.
MPI-CDG
MPI-CDG, formerly CDG-Ib, is a rare autosomal recessive congenital disorder of glycosylation causing liver and intestinal disease in infants, and it is treatable with oral mannose.
Multiple and combined glycosylation defects
Multiple and combined glycosylation defects are rare congenital disorders of glycosylation in which one genetic fault, often in Golgi transport or ion pumps, disrupts multiple glycosylation pathways simultaneously.
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS), also PIGN-CDG/MCAHS1 (OMIM 614080), a rare autosomal recessive GPI-anchor glycosylation defect with severe developmental delay, hypotonia, early seizures, and cardiac, genitourinary, and gastrointestinal anomalies.
NANS-CDG
NANS-CDG (OMIM#605202), N-acetylneuraminic acid synthase deficiency, is a rare autosomal recessive congenital disorder of glycosylation causing intellectual disability, short limbs, skeletal dysplasia, thrombocytopenia, and elevated urinary ManNAc; experimental oral sialic acid therapy is under study.
Peters plus syndrome
Peters plus syndrome (Krause-Kivlin syndrome, PTRPLS, OMIM 261540) is a rare autosomal recessive congenital disorder of glycosylation caused by B3GLCT variants, featuring Peters anomaly with corneal opacity, rhizomelic short stature, cleft lip/palate, and intellectual disability.
PGM3 deficiency
PGM3 deficiency (PGM3-CDG) is a rare autosomal recessive congenital disorder of glycosylation first reported in 2014, caused by hypomorphic PGM3 mutations that reduce UDP-GlcNAc and glycosylation, causing immunodeficiency, severe atopy with high IgE, autoimmunity, skeletal dysplasia, and hypomyelination.
PMM2-CDG
PMM2-CDG, also known as Jaeken syndrome, is an autosomal recessive inherited disorder caused by deficient phosphomannomutase 2, accounting for about 60% of congenital disorders of glycosylation.
Precocious puberty
Precocious puberty: development of secondary sex characteristics before age 8 in girls and 9 in boys; central (GnRH-dependent) versus peripheral forms, diagnosis with basal LH and MRI, GnRHa treatment, secular trends.
Rare disease
Rare disease: condition affecting few people; defined as under 1/2,000 prevalence in Europe, under 200,000 US patients, under 1/10,000 in Japan and China; over 7,000 diseases, 300 million people, treated via incentivized orphan drugs.
Sam Berns
Sam Berns (1996–2014), American Massachusetts teenager with Hutchinson-Gilford progeria syndrome; son of PRF founders Leslie Gordon and Scott Berns, subject of HBO's Life According to Sam and the TEDx talk My philosophy for a happy life.
Sammy Basso
Sammy Basso (1995–2024), Italian molecular biologist with Hutchinson-Gilford progeria; oldest known classic progeria patient, lonafarnib trial participant, CRISPR therapy researcher, AIPROSAB co-founder, first progeria aortic valve replacement patient.
SLC35A1-CDG
SLC35A1-CDG (CDG-IIf, CMP-sialic acid transporter deficiency) is an ultrarare autosomal recessive glycosylation disorder from SLC35A1 mutations, with about six reported cases, causing seizures, ataxia, and macrothrombocytopenia.
SLC35A2-CDG
SLC35A2-CDG, formerly CDG-IIm or DEE22, is a rare X-linked dominant glycosylation disorder caused by SLC35A2 variants affecting the Golgi UDP-galactose transporter, causing infantile epileptic encephalopathy, hypotonia, and severe developmental delay, treatable in trials with galactose supplementation.
SLC35C1-CDG (CDG type IIc, LAD II)
SLC35C1-CDG, also called LAD II or CDG-IIc, is a rare autosomal recessive glycosylation disorder caused by SLC35C1 mutations at 11p11.2 that disable the Golgi GDP-fucose transporter, abolishing sialyl Lewis X, impairing leukocyte rolling, and treatable in part with oral L-fucose.
SRD5A3-CDG
SRD5A3-CDG (formerly CDG type Iq, OMIM 612379) is a rare autosomal recessive glycosylation disorder from SRD5A3 gene variants blocking polyprenol-to-dolichol conversion, causing early vision loss, intellectual disability, hypotonia, and ataxia.
SSR4-CDG
SSR4-CDG (CDG1Y, congenital disorder of glycosylation type Iy) is an ultra-rare X-linked recessive disorder caused by SSR4 gene variants at Xq28 disrupting the TRAP complex and N-linked glycosylation, causing developmental delay, hypotonia, microcephaly, and distinctive facial features.
STT3A-CDG
STT3A-CDG (CDG type Iw, OMIM 615596) is an ultra-rare congenital disorder of N-linked glycosylation from STT3A gene mutations, causing developmental delay, intellectual disability, failure to thrive, hypotonia, and seizures; recessive and dominant forms exist.
STT3B-CDG
STT3B-CDG (CDG-Ix, OMIM 615597) is a rare autosomal recessive N-glycosylation disorder caused by STT3B mutations, with hypotonia, developmental delay, seizures, and near-normal transferrin, so exome sequencing is often needed.
TMEM165-CDG
TMEM165-CDG (CDG type IIk, OMIM 614727) is a rare autosomal recessive glycosylation disorder caused by TMEM165 mutations, marked by skeletal dysplasia, psychomotor delay, and treatable in part with oral galactose.
TMEM199-CDG
TMEM199-CDG (CDG-IIp, CDG2P, OMIM 616829) is a rare autosomal recessive congenital disorder of glycosylation caused by TMEM199/VMA12 variants, causing mild non-progressive liver disease, hypercholesterolemia, low ceruloplasmin, and type 2 transferrin patterns mimicking Wilson disease.
Trisomy
Trisomy (trisomy 21, Down syndrome; also trisomy 13, 18, sex chromosome trisomies): an extra third copy of a chromosome, usually from nondisjunction, detectable by cfDNA screening and diagnostic testing.
XXYYY syndrome
XXYYY syndrome (49,XXYYY, 2X 3Y syndrome) is an extremely rare male sex chromosome aneuploidy with 49 chromosomes, two extra Y and one extra X, causing hypotonia, genital anomalies, tall stature, intellectual disability, and developmental delay.
XYY syndrome
XYY syndrome (47,XYY, Jacob's syndrome) is a male sex chromosome aneuploidy with an extra Y chromosome, occurring in about 1 in 1,000 newborns, causing tall stature, learning and speech difficulties, usually normal fertility, and frequent underdiagnosis.