UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 男性不妊症の原因causes of male infertility [show details]
… disorder with delayed onset (age 30 to 40 years) of impaired motor function, cataracts, premature frontal balding, mild mental retardation, and infertility due to impaired spermatogenesis. Approximately 20 percent …hypogonadotropic hypogonadism (2 to 5 percent) – Any hypothalamic or pituitary disease can cause gonadotropin-releasing hormone (GnRH) or gonadotropin deficiency (hypogonadotropic hypogonadism) and,…
2. 知的障害（精神遅滞）のある成人のプライマリケアprimary care of the adult with intellectual and developmental disabilities [show details]
… Intellectual disability (ID, formerly referred to as mental retardation) affects up to 2.5… and may be diagnosed in childhood. Visual impairments, including amblyopia, refractive errors, cataracts, and glaucoma, are common. Hearing impairments are also common. Annual ophthalmologic and auditory … Prader-Willi syndrome is characterized by infantile hypotonia and failure to thrive. Later in life hypogonadism, mental impairment, and short stature are seen and despite early trouble with maintaining weight…
3. ターナー症候群の臨床症状と診断clinical manifestations and diagnosis of turner syndrome [show details]
… as well as two genes encoding fragile X mental retardation protein or FMRP (FMR1 and FMR2),… 10 percent) have been noted in small case series . Keratoconus, glaucoma, anterior lenticonus, cataracts, retinal vascular changes, and retinal detachment have been noted in case reports . Hearing loss … Primary hypogonadism (gonadal dysgenesis) is one of the most common features of Turner syndrome,…
4. ペリツェウス・メルツバッハー病pelizaeus merzbacher disease [show details]
…congenital cataracts (MIM 610532) is characterized by bilateral congenital cataracts, developmental delay and slowly progressive neurological impairment, with spasticity, ataxia and mental retardation.… and include: Hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) Leukodystrophy with oligodontia ; Ataxia,…
5. 筋強直性ジストロフィー：病因、臨床的特徴、および診断myotonic dystrophy etiology clinical features and diagnosis [show details]
… cataracts, cardiac arrhythmias, and excessive daytime sleepiness (EDS). Average lifespan is reduced. The mild form of DM1 is characterized by mild weakness, myotonia, or cataracts.… Primary hypogonadism (low-serum testosterone, elevated serum follicle-stimulating hormone [FSH] concentration, oligospermia, and infertility), testicular atrophy,… dysfunction in a pattern consistent with intellectual disability . Intellectual disability is a prominent feature of the congenital…

English Journal

Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.

Koparir A, Karatas OF, Yilmaz SS, Suer I, Ozer B, Yuceturk B, Ozen M.
American journal of medical genetics. Part A. 2019 Apr;179(4)579-587.
Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal recessive inherited allelic disorders, which share similar clinical features including microcephaly, intellectual disability, brain malformations, ocular abnormalities, and spasticity. Here, we revealed the functions of novel mutat
PMID 30730599

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR.
PLoS genetics. 2019 03;15(3)e1007605.
Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Genetic analysis of 85 unrelated "mutation negative" probands with Martsolf or Martsolf-like s
PMID 30856165

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?

, G G, E E, E E, 0 0, .
Ophthalmic genetics. 2018 06;39(3)391-395.
Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth
PMID 29419336