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Branchiootic syndrome

The existance odf a separate entity Branchiootic syndrome (BOS) separate from Branchiootorenal syndrome (BOR) is still disputed because type 1 of both disorders is caused by the same gene. It seems however that other types deviate. Three types of BOS are known so far. Type 2 is not yet well characterized and therefore not eligible for diagnostic purposes.

Symptoms

Deafness
Branchiootic syndrome deafness is of a mixed (conductive and sensorineural) type because of malformations (atresia to stenosis) of the external auditory canal and nderdeveloped cochlea and semicircular canals, respectively.

Systematic

Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BMP7
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootic syndrome 1
EYA1
Branchiootic syndrome 3
SIX1
Branchiootorenal dysplasia
CHARGE syndrome
CHD1L
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome

References:

1.

Pagon RA et al. (1981) Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

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2.

Wheeler PG et al. (2000) Hypogonadism and CHARGE association.

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3.

Källén K et al. (1999) CHARGE Association in newborns: a registry-based study.

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4.

Devriendt K et al. (1998) Deletion in chromosome region 22q11 in a child with CHARGE association.

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5.

Tellier AL et al. (1998) CHARGE syndrome: report of 47 cases and review.

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6.

Tellier AL et al. (1996) Increased paternal age in CHARGE association.

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7.

Harris J et al. (1997) Epidemiology of choanal atresia with special reference to the CHARGE association.

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8.

Van Meter TD et al. (1996) Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism.

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9.

Wyse RK et al. (1993) Congenital heart disease in CHARGE association.

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10.

North KN et al. (1995) CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).

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11.

Koletzko B et al. (1984) Congenital anomalies in patients with choanal atresia: CHARGE-association.

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12.

Bates SH et al. (2003) STAT3 signalling is required for leptin regulation of energy balance but not reproduction.

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13.

Goldson E et al. (1986) The CHARGE association. How well can they do?

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14.

Davenport SL et al. (1986) CHARGE syndrome. Part I. External ear anomalies.

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15.

Metlay LA et al. (1987) Familial CHARGE syndrome: clinical report with autopsy findings.

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16.

Cyran SE et al. (1987) Spectrum of congenital heart disease in CHARGE association.

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17.

Oley CA et al. (1988) A reappraisal of the CHARGE association.

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18.

Gu X et al. (2017) {'i': ['S'], 'content': 'SAMTOR is an -adenosylmethionine sensor for the mTORC1 pathway.'}

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19.

Prouteau M et al. (2017) TORC1 organized in inhibited domains (TOROIDs) regulate TORC1 activity.

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20.

Di Malta C et al. (2017) Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth.

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21.

OMIM.ORG article

Omim 601771 external link
22.

NCBI article

NCBI 1545 external link
Update: Aug. 14, 2020
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