Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along the lateral ventricles.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the nervous system
LA05 Cerebral structural developmental anomalies
H00270 Periventricular nodular heterotopia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06541 Cytoskeleton in neurons
H00270 Periventricular nodular heterotopia
nt06548 Integrin signaling
H00270 Periventricular nodular heterotopia
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R
Title
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M
Title
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity. The cardinal features of the syndrome are congenital hypotonia, delayed development of speech, relative macrocephaly (as compared to height and weight), anal anomalies or severe constipation, and dysmorphic facial features. Five loci have so far been linked to this phenotype on the X chromosome. A recurrent missense mutation in the MED12 gene has been identified as the cause for the subset of FGS cases. Filamin A gene (FLNA) and CASK gene mutations could be another causes of FG syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H00894 FG syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06546 IgSF CAM signaling
H00894 FG syndrome
nt06548 Integrin signaling
H00894 FG syndrome
Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal motility. The typical clinical manifestation is characterized by recurrent episodes of abdominal pain, abdominal distension, and inability to defecate. CIIP is one of the most important causes of chronic intestinal failure both in pediatric and adult cases, since affected individuals are often unable to maintain normal body weight and/or normal oral nutrition. CIIP is generally sporadic, but familial forms have also been described. It has been reported that flamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction.
Category
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
Diseases of small intestine
DA90 Nonstructural developmental anomalies of small intestine
H01276 Chronic idiopathic intestinal pseudo-obstruction
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H01276 Chronic idiopathic intestinal pseudo-obstruction
Terminal osseous dysplasia; Terminal osseous dysplasia and pigmentary defects
Description
Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. TOD is caused by a mutation in the FLNA gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02229 Terminal osseous dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02229 Terminal osseous dysplasia
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH
Title
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
X-linked cardiac valvular dysplasia (CVDPX) is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It has been reported that mutations in FLNA encoding filamin A cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the circulatory system
Structural developmental anomaly of heart or great vessels
LA87 Congenital anomaly of an atrioventricular valve or atrioventricular septum
H02230 X-linked cardiac valvular dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02230 X-linked cardiac valvular dysplasia
Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ
Title
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
