Search Result

2681 to 2709 of 2709 Prev 1 ... 63 64 65 66 67 68

Entry	Name	Description	Category	Gene
H02737	Familial multinodular goiter	Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland. As opposed to toxic MNG, the non-toxic subtype does not result from an inflammatory or neoplastic ...	Endocrine and metabolic disease	(MNG1) DICER1 [HSA:23405] [KO:K11592]
H02738	Childhood-onset neurodegeneration with cerebellar atrophy	Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a lower motor neuron disorder due to biallelic loss-of-function mutations in AGTPBP1. Patients generally presented with muscular hypotonia ...	Nervous system disease	(CONDCA) AGTPBP1 [HSA:23287] [KO:K23435]
H02739	Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline	Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is a neurodegenerative disease caused by mutations in the SLC44A1 gene encoding choline transporter-like ...	Nervous system disease	(CONATOC) SLC44A1 [HSA:23446] [KO:K06515]
H02740	Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities	Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) is a rare early-onset neurodegeneration caused by gain-of-function mutations in CLCN6 ...	Nervous system disease	(CONRIBA) CLCN6 [HSA:1185] [KO:K05015]
H02741	Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline	Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is a novel early-onset disorder caused by the gain-of-function mutation in CAPRIN1. CAPRIN1 is a ubiquitously expressed ...	Nervous system disease	(CONDCAC) CAPRIN1 [HSA:4076] [KO:K18743]
H02742	Congenital neuromuscular disorder with dysmorphic facies	Congenital neuromuscular disorder with dysmorphic facies (NMDF) is a novel autosomal recessive disorder caused by loss-of-function mutations in FILIP1. Patients exhibit a broad spectrum of neurological ...	Congenital malformation	FILIP1 [HSA:27145]
H02743	KINSSHIP syndrome	... seizures, hypertrichosis, intellectual disability, and pulmonary involvement. It has been reported that variants in the degron of AFF3 cause this disease. AFF3 encodes a component of the transcriptional ...	Congenital malformation	AFF3 [HSA:3899] [KO:K15195]
H02744	Neurofacioskeletal syndrome with or without renal agenesis	Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is a syndrome characterized by developmental delay, corpus callosum agenesis or hypoplasia, facial dysmorphism, short stature, and other ...	Congenital malformation	HS2ST1 [HSA:9653] [KO:K02513]
H02745	Neuromuscular oculoauditory syndrome	... anomalies and seizures. NMOAS can have varied presentations and can be suspected in a young infant with weakness, seizures, blindness and deafness. DHX16 is a member of the spliceosome complex B and is ...	Congenital malformation	DHX16 [HSA:8449] [KO:K12813]
H02746	Alfadhel syndrome	... characterized by dysmorphic feature, intellectual disability, and speech delay. It has been reported that mutations in RAP1GDS1 cause this syndrome. RAP1GDS1 is a guanine nucleotide exchange factor (GEF) ...	Congenital malformation	RAP1GDS1 [HSA:5910]
H02747	Oculogastrointestinal neurodevelopmental syndrome	... congenital malformations, in addition to eye abnormalities. CAPN15 encodes a non-classical calpain. The Calpain family consists of intracellular calcium-dependent cysteine proteases with essential functions ...	Congenital malformation	CAPN15 [HSA:8449] [KO:K12813]
H02748	Hepatorenocardiac degenerative fibrosis	... present progressive fibrotic liver disease and variable kidney and heart disease. It has been reported that mutations in TULP3 cause this disease. TULP3 encodes a critical adaptor protein for ciliary trafficking	Congenital malformation	TULP3 [HSA:7289] [KO:K19600]
H02749	Bleeding disorder vascular-type	Bleeding disorder vascular-type (BDVAS) is a novel autosomal dominant disorder associated with episodic impaired microcirculation. Patients present a severe atypical bleeding diathesis despite unaltered ...	Hematologic disease	APOLD1 [HSA:81575]
H02750	Glutathionuria	Glutathionuria is a rare disease caused by mutations in GGT1. Most patients presented involvement of the central nervous system in the form of moderate mental retardation, behavioral disturbance, and seizures ...	Inherited metabolic disorder	GGT1 [HSA:2678] [KO:K18592]
H02751	Orthostatic hypotension	Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and ...	Cardiovascular disease	(ORTHYP1) DBH [HSA:1621] [KO:K00503] (ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
H02752	Tan-Almurshedi syndrome	Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature, and craniofacial anomalies. It has been reported ...	Congenital malformation	DRG1 [HSA:4733] [KO:K06944]
H02754	Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate	Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a very rare condition caused by mutations in SLC13A3. Patients exhibit a reversible leukoencephalopathy and urinary ...	Inherited metabolic disorder	SLC13A3 [HSA:64849] [KO:K14445]
H02755	Lui-Jee-Baron syndrome	Lui-Jee-Baron syndrome (LJBS) is an X-linked overgrowth syndrome caused by mutations in SPIN4. Clinical presentation includes extreme tall stature, enlarged liver and spleen, and macrocephaly. It has been ...	Congenital malformation	SPIN4 [HSA:139886]
H02756	Congenital juvenile recurrent respiratory papillomatosis	Juvenile recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. JRRP is associated with infection ...	Neoplasm	NLRP1 [HSA:22861] [KO:K12798]
H02757	Recurrent respiratory infections and failure to thrive with or without diarrhea	Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is a rare genetic disorder characterized by recurrent lower respiratory infections, chronic diarrhoea, and failure ...	Respiratory system disease	AGR2 [HSA:10551] [KO:K20356]
H02758	ACCES syndrome	ACCES syndrome is associated with a variable phenotype that includes aplasia cutis congenita and ectrodactyly as specific features. It has been reported that mutations in UBA2 cause this syndrome. UBA2 ...	Congenital malformation	UBA2 [HSA:10054] [KO:K10685]
H02759	Suleiman-El-Hattab syndrome	... and multiple congenital anomalies involving skeletal, cardiac, and renal systems. It has been reported that homozygous loss-of-function mutations in TASP1 cause this syndrome. TASP1 encodes an activator of ...	Congenital malformation	TASP1 [HSA:55617] [KO:K08657]
H02760	BDV syndrome	... intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism. It has been reported that mutations in CPE cause this syndrome. CPE encodes carboxypeptidase E, an enzyme that converts proneuropeptides ...	Inherited metabolic disorder	CPE [HSA:1363] [KO:K01294]
H02761	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) is a severe combined immunodeficiency resulting from MTHFD1 mutations. Variable phenotypes, including megaloblastic ...	Inherited metabolic disorder	(CIMAH) MTHFD1 [HSA:4522] [KO:K00288]
H02762	Osteo-oto-hepato-enteric syndrome	... syndrome associating cholestasis, diarrhea, impaired hearing, and bone fragility. It has been reported that mutations in UNC45A cause this syndrome. UNC45A belongs to the conserved UCS protein family of myosin ...	Congenital malformation	UNC45A [HSA:55898] [KO:K21991]
H02763	Neurocardiofaciodigital syndrome	... defects, dysmorphic facial features, and a distinctive type of synpolydactyly. It has been reported that mutations in MAPKAPK5 cause this syndrome. MAPKAPK5 is an essential enzyme for diverse cellular ...	Congenital malformation	MAPKAPK5 [HSA:8550] [KO:K04442]
H02764	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	... recognizable facial gestalt, premature skin aging and mild intellectual disability. EXOSC2 encodes a cap protein of the RNA exosome, the main cellular machinery responsible for degrading RNA molecules.	Congenital malformation	EXOSC2 [HSA:23404] [KO:K03679]
H02765	Prieto syndrome	Prieto syndrome (PRS) is a rare X-linked intellectual disability with variable epilepsy and structural brain abnormalities. It has been reported that mutations in WNK3 cause this syndrome. WNK3 is a chloride ...	Congenital malformation	WNK3 [HSA:65267] [KO:K08867]
H02766	Radiohumeral fusions with other skeletal and craniofacial anomalies	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) is a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies. It has been reported that mutations ...	Congenital malformation	CYP26B1 [HSA:56603] [KO:K12664]

2681 to 2709 of 2709 Prev 1 ... 63 64 65 66 67 68