Search Result

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Entry	Name	Description	Category	Gene
H00045	Pancreatic neuroendocrine tumor	... or in association with a genetic syndrome, such as multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Landau (VHL) syndrome, neurofibromatosis type 1, or tuberous sclerosis. The most frequent genetic ...	Cancer	MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779]
H00247	Multiple endocrine neoplasia syndrome Wermer syndrome Sipple syndrome	... H01522). MEN2 is characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. Patients with MEN2A develop MTC in association with ...	Cancer	(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN2A MEN2B) RET [HSA:5979] [KO:K05126] (MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00352	Whipple disease	Whipple disease (WD) is a rare chronic multi-system disease associated with the bacterium Tropheryma whipplei that is ubiquitously present in the environment. The clinical features of WD are non-specific ...	Bacterial infectious disease
H00517	Spondylocostal dysostosis	Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation ...	Congenital malformation	(SCDO1) DLL3 [HSA:10683] [KO:K06051] (SCDO2) MESP2 [HSA:145873] [KO:K09076] (SCDO3) LNFG [HSA:3955] [KO:K05948] (SCDO4) HES7 [HSA:84667] [KO:K09087] (SCDO5) TBX6 [HSA:6911] [KO:K10180] (SCDO6) RIPPLY2 [HSA:134701]
H00559	von Hippel-Lindau syndrome	von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas ...	Congenital malformation	VHL [HSA:7428] [KO:K03871] CCND1 [HSA:595] [KO:K04503]
H00640	Limb-mammary syndrome	... condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects.	Congenital malformation	TP63 [HSA:8626] [KO:K10149]
H00852	Klippel-Feil syndrome	Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or ...	Congenital malformation	(KFS1) GDF6 [HSA:392255] [KO:K20012] (KFS2) MEOX1 [HSA:4222] [KO:K09322] (KFS3) GDF3 [HSA:9573] [KO:K22672] (KFS4) MYO18B [HSA:84700] [KO:K10362]
H01720	Southeast Asian ovalocytosis	... very common condition in the aboriginal peoples from Papua New Guinea, Indonesia, Malaysia, the Philippines, and southern Thailand, in areas where malaria is endemic, with prevalence varying between 5% ...	Hematologic disease	(SAO) SLC4A1 [HSA:6521] [KO:K06573]
H01727	Primary alveolar hypoventilation syndrome	... an underlying genetic mechanism. It has been represented that some adult onset PAHS may be a mild type of CCHS. Recently, noninvasive positive pressure ventilation (NIPPV) has become available for PAHS.	Respiratory system disease
H01788	Klippel-Trenaunay-Weber syndrome	Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas ...	Congenital malformation
H01817	Beukes hip dysplasia Beukes type hip dysplasia	... joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, and height is not significantly reduced. The condition ...	Congenital malformation	UFSP2 [HSA:55325] [KO:K01376]
H01826	Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a group of chronic disorders characterized by prominent neuronal loss and gliosis in the hippocampus and amygdala. MTLE-HS is restricted ...	Nervous system disease
H01833	Hemimegalencephaly	... a syndrome, such as hypomelanosis of Ito, tuberous sclerosis complex, epidermal nevus syndrome or Klippel-Trenaunay syndrome. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug resistant ...	Congenital malformation
H01857	Filippi syndrome Syndactyly type 1 with microcephaly and intellectual disability	Filippi syndrome is a rare autosomal-recessive disorder characterized by mild to severe mental retardation, syndactyly of the fingers and toes, microcephaly, pre and postnatal growth retardation, and unusual ...	Congenital malformation	CKAP2L [HSA:150468] [KO:K16769]
H02089	Winchester syndrome	... is a rare skeletal disorder originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Previously, Winchester syndrome and multicentric osteolysis, nodulosis, and arthropathy ...	Musculoskeletal disease	MMP14 [HSA:4323] [KO:K07763]
H02179	Rippling muscle disease	Rippling muscle disease (RMD) is an autosomal-dominant disorder of skeletal muscle characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced ...	Nervous system disease; Musculoskeletal disease	CAV3 [HSA:859] [KO:K12959]
H02404	Capillariasis	... caused by nematode worms of the genus Capillaria. Intestinal capillariasis caused by Capillaria philippinensis appeared first in the Philippines in 1964. Major outbreaks have occurred in the Philippines ...	Parasitic infectious disease
H02658	X-linked congenital hemolytic anemia	... is a recently reported hemolytic anemia caused by mutations in the ATP11C. ATP11C encodes a major flippase in human erythrocytes. Flippase transports phospholipids from the outer to the inner leaflet of ...	Hematologic disease	ATP11C [HSA:286410] [KO:K26934]
H02679	Miura-type epiphyseal chondrodysplasia	... tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis. The disease is caused by heterozygous mutation in the NPR2 gene on chromosome ...	Congenital malformation	NPR2 [HSA:4882] [KO:K12324]
H02691	Scalp-ear-nipple syndrome	Scalp-ear-nipple syndrome (SENS) is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. It has been reported ...	Congenital malformation	KCTD1 [HSA:284252] [KO:K21754]
H02710	Yuksel-Vogel-Bauer syndrome	... disease and craniofacial malformations. DLG5 is a member of the membrane-associated guanylate kinase family of proteins and participates in regulation of Hippo, sonic Hedgehog, and TGF beta signaling.	Congenital malformation	DLG5 [HSA:9231] [KO:K24050]

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