Simpson–Golabi–Behmel syndrome

Simpson–Golabi–Behmel syndrome: Simpson–Golabi–Behmel syndrome

Classification and external resources

X-linked recessive inheritance.

ICD-10 Q89.9

ICD-9 759.89

OMIM 312870

DiseasesDB 32640

Simpson–Golabi–Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplasia gigantism syndrome (DGSX),^[1] is a rare inherited congenital disorder with widely variable expression, causing craniofacial and other abnormalities.

It is inherited in an X-linked recessive fashion,^[2] meaning that generally only males are affected, but females are carriers.

Types include:

Type OMIM Gene Locus

SGBS1 312870 GPC3 Xq26

SGBS2 300209 CXORF5 Xp22

Characteristics

Affected individuals typically have pre- or postnatal overgrowth leading to coarse ("bulldog-like") faces with protruding jaw and tongue, widened nasal bridge, and upturned nasal tip. They often are quite tall. Intelligence is usually normal, although mental retardation does occur. They often have abnormalities of the extremities, such as broad, short hands and feet, occasionally with polydactyly. Other abnormalities may include pectus excavatum, ventricular septal defect (or other congenital heart defects), Meckel diverticulum, intestinal malrotation, and congenital diaphragmatic hernia.

People with this syndrome may have an increased risk of tumors, such as neuroblastoma or Wilms tumor^[3].

SGBS is somewhat similar to another overgrowth syndrome called Beckwith–Wiedemann syndrome.

SGBS Cells is a unique tool to study the function of Human adipocyte biology. These cells are similar to human primary preadipocytes, and will become a popular model instead of Mouse 3T3-L1 cells to study the secretion and adipokine proﬁle in the future.

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 312870

^ Garganta CL, Bodurtha JN (1992). "Report of another family with Simpson–Golabi–Behmel syndrome and a review of the literature". Am J Med Genet 44 (2): 129–135. doi:10.1002/ajmg.1320440202. PMID 1456279.

^ Neri, G., Gurrieri, F., Zanni, G., Lin, A. (1998). "Clinical and molecular aspects of Simpson–Golabi–Behmel sydrome."American Journal of Medical Genetics.79(4): 279-283. [1]

External links

Simpson–Golabi–Behmel syndrome at NIH's Office of Rare Diseases

GeneReview/NCBI/NIH/UW entry on Simpson–Golabi–Behmel Syndrome

v · d · eSex linkage: X-linked disorders

X-linked recessive

Immune
Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiency

Hematologic
Haemophilia A · Haemophilia B · X-linked sideroblastic anemia

Endocrine
Androgen insensitivity syndrome/Kennedy disease · KAL1 Kallmann syndrome · X-linked adrenal hypoplasia congenita

Metabolic

amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome

dyslipidemia: Adrenoleukodystrophy

carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb

lipid storage disorder: Fabry's disease

mucopolysaccharidosis: Hunter syndrome

purine-pyrimidine metabolism: Lesch–Nyhan syndrome
mineral: Menkes disease/Occipital horn syndrome

Nervous system

X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome

eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia
other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2

Skin and related tissue

Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) ·
X-linked ichthyosis · X-linked endothelial corneal dystrophy

Neuromuscular
Becker's muscular dystrophy/Duchenne · Centronuclear myopathy (MTM1) · Conradi–Hünermann syndrome · Emery–Dreifuss muscular dystrophy 1

Urologic
Alport syndrome · Dent's disease · X-linked nephrogenic diabetes insipidus

Bone/tooth
AMELX Amelogenesis imperfecta

No primary system
Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson–Golabi–Behmel syndrome · Mohr–Tranebjærg syndrome · Nasodigitoacoustic syndrome

X-linked dominant

X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan–Fryns syndrome · Orofaciodigital syndrome 1

Categories:
X-linked recessive disorders
Rare diseases
Syndromes
Congenital disorders
Genetic disorder stubs

Simpson–Golabi–Behmel syndrome
Classification and external resources
X-linked recessive inheritance.
ICD-10	Q89.9
ICD-9	759.89
OMIM	312870
DiseasesDB	32640

Type	OMIM	Gene	Locus
SGBS1	312870	GPC3	Xq26
SGBS2	300209	CXORF5	Xp22

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Look at other dictionaries:

Simpson-Golabi-Behmel syndrome — Simpson Golabi Behmel syndrome. См. синдром Симпсона Голаби Бемеля. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Simpson-Golabi-Behmel syndrome — Infobox Disease Name = PAGENAME Caption = X linked recessive inheritance. DiseasesDB = 32640 ICD10 = ICD10|Q|89|9|q|80 ICD9 = ICD9|759.89 ICDO = OMIM = 312870 MedlinePlus = eMedicineSubj = eMedicineTopic = Simpson Golabi Behmel syndrome (SGBS),… … Wikipedia
Syndrome de simpson-golabi-behmel — Autre nom {{{Autre nom}}} Référence MIM … Wikipédia en Français
Syndrome de Simpson-Golabi-Behmel — Référence MIM 312870 Transmission Récessive à l X Chromosome Xq26 Gène GPC3 Lis … Wikipédia en Français
Simpson-Golabi-Behmel-Syndrom — Klassifikation nach ICD 10 Q87.8 Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, andernorts nicht klassifiziert … Deutsch Wikipedia
Simpson-Golabi-Behmel syndrome — (= SGBS) Human disorder leading to overgrowth. Arises through mutation in glycipan 3 gene on X chromosome probably reducing the extent to which IGF 2 is bound and unavailable for growth stimulation … Dictionary of molecular biology
Syndrome de char — Le syndrome de Char est l’association d’anomalies du cinquième doigt, d’une cardiopathie congénitale à type de persistance du canal artériel et d’un visage caractéristique. Sommaire 1 Autres noms de la maladie 2 Etiologie 3 Incidence … Wikipédia en Français
Syndrome de smith-lemli-opitz — Le syndrome de Smith Lemli Opitz est une maladie génétique rare en rapport avec un déficit en 7 déhydrocholestérol réductase, une enzyme. Ce déficit entraîne une large variété d’anomalies morphologiques. Les principales anomalies sont une… … Wikipédia en Français
Syndrome de Char — Le syndrome de Char est l’association d’anomalies du cinquième doigt, d’une cardiopathie congénitale à type de persistance du canal artériel et d’un visage caractéristique. Sommaire 1 Autres noms de la maladie 2 Etiologie 3 Incidence … Wikipédia en Français
Syndrome de Smith-Lemli-Opitz — Le syndrome de Smith Lemli Opitz est une maladie génétique rare en rapport avec un déficit en 7 déhydrocholestérol réductase, une enzyme. Ce déficit entraîne une large variété d’anomalies morphologiques. Les principales anomalies sont une… … Wikipédia en Français

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Simpson–Golabi–Behmel syndrome

Characteristics

References

External links

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Simpson–Golabi–Behmel syndrome

Characteristics

References

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