Neuroblastoma, and Generalized seizures

Low match NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2

NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2 Is also known as ;

• Autosomal dominant inheritance
• Seizures
• Neoplasm
• Arrhythmia
• Hyperhidrosis

SOURCES: UMLS GARD MESH ORPHANET MONDO OMIM

Low match EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1

Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). Genetic Heterogeneity of Temporal Lobe EpilepsySee also ETL2 (OMIM ), which maps to chromosome 12q; ETL3 (OMIM ), which maps to chromosome 4q; ETL4 (OMIM ), which maps to chromosome 9q; ETL5 (OMIM ), caused by mutation in the CPA6 gene (OMIM ) on chromosome 8q13; ETL6 (OMIM ), which maps to chromosome 3q25-q26; ETL7 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; and ETL8 (OMIM ), caused by mutation in the GAL gene (OMIM ) on chromosome 11q13.

EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 Is also known as epilepsy, lateral temporal lobe, autosomal dominant;adlte, epilepsy, partial, with auditory features;adpeaf;adeaf; adlte; adpeaf; autosomal dominant lateral temporal lobe epilepsy; partial epilepsy with auditory aura; partial epilepsy with auditory features

• Autosomal dominant inheritance
• Seizures
• Focal seizures
• Febrile seizures
• Generalized seizures

SOURCES: OMIM UMLS ORPHANET

Low match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome; ondine-hirschsprung disease; ondine-hirschsprung syndrome

• Intellectual disability
• Seizures
• Strabismus
• Failure to thrive
• Sensorineural hearing impairment

SOURCES: ORPHANET SCTID

Low match CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS

Idiopathic congenital central hypoventilation syndrome, also known as 'Ondine's curse' (Deonna et al., 1974), is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. Patients breathe normally while awake, but hypoventilate with normal respiratory rates and shallow breathing during sleep; more severely affected patients hypoventilate both awake and asleep. These patients typically present in the first hours of life with cyanosis and increased carbon dioxide during sleep. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999).Congenital central hypoventilation syndrome has been associated with several disorders classified as neurocristopathies, that is, aberrant phenotypes arising from a defect of migration or differentiation of neural crest cells. These include neuroblastoma (Haddad et al., 1978), ganglioneuroma (Swaminathan et al., 1989), and most frequently Hirschsprung disease (HSCR) which appears in 16% of CCHS patients. The association of CCHS and HSCR is referred to as Haddad syndrome.Congenital central hypoventilation can be a feature of other developmental disorders, such as those caused by mutation in the MECP2 gene (OMIM ).

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS Is also known as autonomic control, congenital failure of, ondine curse, congenital;cchs; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome; ondine curse

• Autosomal dominant inheritance
• Seizures
• Muscular hypotonia
• Milia
• Cognitive impairment

SOURCES: MONDO ORPHANET OMIM

Low match TUBEROUS SCLEROSIS 2; TSC2

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (OMIM ), caused by mutation in the TSC1 gene (OMIM ) on chromosome 9q34.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Motor delay

SOURCES: NCIT MONDO OMIM GARD UMLS

Low match COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 Is also known as colon cancer, familial nonpolyposis, type 2;fcc2, coca2;

• Autosomal dominant inheritance
• Seizures
• Muscular hypotonia
• Flexion contracture
• Neoplasm

SOURCES: ORPHANET OMIM

Low match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1 Is also known as skin creases, multiple benign ring-shaped, of limbs, circumferential skin creases, kunze type, michelin tire baby syndrome;ccsf; circumferential skin creases, kunze type; congenital circumferential skin folds; kunze-riehm syndrome

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: ORPHANET OMIM UMLS SCTID

Low match TUBEROUS SCLEROSIS 1; TSC1

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex;tsc, tuberose sclerosis;ts;bourneville syndrome; tuberous sclerosis

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Pica

SOURCES: ORPHANET OMIM GARD MONDO NCIT SCTID ICD10 UMLS

Low match SOTOS SYNDROME 1; SOTOS1

SOTOS SYNDROME 1; SOTOS1 Is also known as sotos syndrome, cerebral gigantism, chromosome 5q35 deletion syndrome

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: NCIT MONDO OMIM

Low match NOONAN SYNDROME 1; NS1

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair (NSLH ), caused by mutation in the SHOC2 gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as noonan syndrome, male turner syndrome, female pseudo-turner syndrome, turner phenotype with normal karyotype

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: OMIM