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Entry	Name	Description	Category	Gene
H00077	Progressive supranuclear palsy Steele-Richardson-Olszewski syndrome	... progressing degenerative disease belonging to the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive ...	Neurodegenerative disease	(PSNP1) MAPT [HSA:4137] [KO:K04380]
H00078	Frontotemporal lobar degeneration	... degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin ...	Neurodegenerative disease	(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] (FTLDU) GRN [HSA:2896] [KO:K23879]
H00107	Other well-defined immunodeficiency syndromes	Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions of the ...	Primary immunodeficiency	WAS [HSA:7454] [KO:K05747] TBX1 [HSA:6899] [KO:K10175] STAT3 [HSA:6774] [KO:K04692] TYK2 [HSA:7297] [KO:K11219] SH2D1A [HSA:4068] [KO:K07990] XIAP [HSA:331] [KO:K04725] ITK [HSA:3702] [KO:K07363] AIRE [HSA:326] [KO:K10603] FOXP3 [HSA:50943] [KO:K10163] RMRP [HSA:6023] [KO:K14576]
H00180	Holocarboxylase synthetase deficiency Multiple carboxylase deficiency	... are known to be biotinylated by HLCS. They are pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and acetyl-CoA carboxylase. Symptoms of HLCS deficiency include metabolic acidosis ...	Inherited metabolic disorder	HLCS [HSA:3141] [KO:K01942]
H00181	3-Methylcrotonylglycinuria 3-Methylcrotonyl-CoA carboxylase deficiency	3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype.	Inherited metabolic disorder	(MCC1D) MCCC1 [HSA:56922] [KO:K01968] (MCC2D) MCCC2 [HSA:64087] [KO:K01969]
H00233	MYH9-related disease Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of ...	Cardiovascular disease	MYH9 [HSA:4627] [KO:K10352]
H00308	Vibrio vulnificus infection	... in warm coastal waters. It causes two distinct syndromes: a primary septicemia related to seafood consumption and a necrotizing wound infection acquired by exposing open wounds to contaminated seawater.	Bacterial infectious disease
H00335	Foodborne Clostridium perfringens intoxication	... diseases: Type A food poisoning and Type C food poisoning. Type A causes relatively mild diarrhea common in the industrialized countries, whereas Type C is a rare but very serious cause of necrotic enteritis.	Bacterial infectious disease
H00573	Townes-Brocks syndrome	... autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal thumbs, imperforate anus ...	Congenital malformation	(TBS1) SALL1 [HSA:6299] [KO:K19871] (TBS2) DACT1 [HSA:51339] [KO:K22154]
H00578	Epstein syndrome	Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle ...	Cardiovascular disease	MYH9 [HSA:4627] [KO:K10352]
H00678	Achondrogenesis type IA Achondrogenesis, Houston-Harris type	... growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus.	Congenital malformation	TRIP11 [HSA:9321] [KO:K23368]
H01042	Buruli ulcer	... recently been reported in some countries especially in central and western Africa. BU is a serious necrotizing cutaneous infection caused by Mycobacterium ulcerans that is related to the aquatic environment ...	Bacterial infectious disease
H01286	Microtia hearing impairment and cleft palate	Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities ...	Congenital malformation	HOXA2 [HSA:3199] [KO:K09302]
H01354	Leigh syndrome	Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with ...	Inherited metabolic disorder, Mitochondrial disease	NDUFS3 [HSA:4722] [KO:K03936] NDUFS4 [HSA:4724] [KO:K03937] NDUFS7 [HSA:374291] [KO:K03940] NDUFS8 [HSA:4728] [KO:K03941] NDUFA2 [HSA:4695] [KO:K03946] NDUFA9 [HSA:4704] [KO:K03953] NDUFA10 [HSA:4705] [KO:K03954] NDUFA12 [HSA:55967] [KO:K11352] NDUFAF2 [HSA:91942] [KO:K18160] NDUFAF6 [HSA:137682] [KO:K18163] FOXRED1 [HSA:55572] [KO:K18166] SDHA [HSA:6389] [KO:K00234] COX10 [HSA:1352] [KO:K02257] COX15 [HSA:1355] [KO:K02259] SURF1 [HSA:6834] [KO:K14998] BCS1L [HSA:617] [KO:K08900] TACO1 [HSA:51204] [KO:K18189] (LSFC) LRPPRC [HSA:10128] [KO:K17964]
H01382	Polyarteritis nodosa Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome ADA2 deficiency	... vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS), is a systemic necrotizing vasculitis that affects medium and small muscular arteries. The ensuing tissue ischemia can ...	Immune system disease	CECR1 [HSA:51816] [KO:K19572]
H01426	Invasive streptococcal disease	... occurrence of shock and multi-organ system failure early in the course of the infection. Another is necrotising fasciitis, characterized by extensive local necrosis of subcutaneous soft tissues and skin ...	Bacterial infectious disease
H01440	Acute necrotizing ulcerative gingivitis Vincent gingivitis Vincent angina Trench mouth	Acute necrotizing ulcerative gingivitis, also known as Trench mouth, Vincent angina and Vincent gingivitis is an acute bacterial infection of the gingiva caused by spirochetes, fusiform bacteria, or an ...	Bacterial infectious disease
H01455	Necrotizing fasciitis	Necrotizing fasciitis (NF) is a severe life-threatening soft tissue infection characterized by rapidly spreading necrosis of the fascia and the subcutaneous tissue. Although more common in adults, NF also ...	Bacterial infectious disease
H01469	Short bowel syndrome	... including Crohn's disease, volvulus, cancer, or significant damage (injury, trauma). In infants, necrotizing enterocolitis is the most common cause for surgical resection of the small intestines. Patients ...	Digestive system disease
H01505	Inclusion body myositis	... Muscle histopathology demonstrates endomysial inflammatory exudates surrounding and invading non-necrotic muscle fibers often times accompanied by rimmed vacuoles and protein deposits. IBM is refractory ...	Nervous system disease; Musculoskeletal disease
H01579	Congenital symmetric circumferential skin creases Kunze-Riehm syndrome Michelin tire baby syndrome	... either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule ...	Congenital malformation	(CSCSC1) TUBB [HSA:203068] [KO:K07375] (CSCSC2) MAPRE2 [HSA:10982] [KO:K10436]
H01630	Patent ductus arteriosus	... be associated with an increased incidence of chronic lung disease, intraventricular hemorrhage, and necrotizing enterocolitis. Clinicians may choose to treat the PDA in an attempt to minimize the risk of ...	Congenital malformation	(PDA2) TFAP2B [HSA:7021] [KO:K09176] (PDA3) PRDM6 [HSA:93166] [KO:K20795]
H01655	Granulomatosis with polyangiitis Wegener granulomatosis	Granulomatosis with polyangitis (GPA) is an idiopathic, systemic inflammatory disease characterized by necrotizing granulomatous inflammation and pauci-immune small- vessel vasculitis of upper and lower respiratory ...	Immune system disease
H01658	Microscopic polyangiitis	... clinically apparent as rapidly progressive glomerulonephritis and histopathologically as pauci-immune necrotizing and crescentic glomerulonephritis. Diagnosis is mainly established by clinical manifestations ...	Immune system disease
H01688	Rapidly progressive glomerulonephritis	... (anti-GBM) GN, and immune complex GN. PIGN, the most common etiology of primary RPGN, refers to a necrotizing glomerulonephritis with few or no immune deposits by immunofluorescence or electron microscopy ...	Urinary system disease
H01740	Macrothrombocytopenia	Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations ...	Hematologic disease	(MATINS) MYH9 [HSA:4627] [KO:K10352] (BSS) GP1BA [HSA:2811] [KO:K06261] (BSS) GP1BB [HSA:2812] [KO:K06262] (BSS) GP9 [HSA:2815] [KO:K06263] (BDPLT15) ACTN1 [HSA:87] [KO:K05699] (BDPLT16) ITGA2B [HSA:3674] [KO:K06476] (BDPLT19) PRKACG [HSA:5568] [KO:K04345] (BDPLT24) ITGB3 [HSA:3690] [KO:K06493] (STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683] (MACTHC1) TUBB1 [HSA:81027] [KO:K07375] (MACTHC2) TUBA8 [HSA:51807] [KO:K07374] GATA1 [HSA:2623] [KO:K09182] VWF [HSA:7450] [KO:K03900] DIAPH1 [HSA:1729] [KO:K05740]
H01889	Meier-Gorlin syndrome Ear-patella-short statute syndrome	Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings ...	Congenital malformation	(MGORS1) ORC1 [HSA:4998] [KO:K02603] (MGORS2) ORC4 [HSA:5000] [KO:K02606] (MGORS3) ORC6 [HSA:23594] [KO:K02608] (MGORS4) CDT1 [HSA:81620] [KO:K10727] (MGORS5) CDC6 [HSA:990] [KO:K02213] (MGORS6) GMNN [HSA:51053] [KO:K10749] (MGORS7) CDC45 [HSA:8318] [KO:K06628] (MGORS8) MCM5 [HSA:4174] [KO:K02209]
H02053	Fechtner syndrome	Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features ...	Cardiovascular disease	MYH9 [HSA:4627] [KO:K10352]
H02097	Gray platelet syndrome Bleeding disorder platelet-type 4	Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS is ...	Hematologic disease	NBEAL2 [HSA:23218] [KO:K23286]
H02176	Cryptorchidism	Cryptorchidism is the absence of at least one testicle from the scrotum. It is the most common birth defect involving the male genitalia. It is associated with a higher risk of developing testicular tumors ...	Congenital malformation	INSL3 [HSA:3640] [KO:K21999]
H02260	Chondrodysplasia Chassaing-Lacombe type Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	... numerous substrates, one of which is acetylated alpha tubulin. It is known that the level of alpha tubulin acetylation acts on the dynamic of microtubules, and therefore on cell motility and migration.	Congenital malformation	HDAC6 [HSA:10013] [KO:K11407]
H02261	PEBAT Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum	... disability, seizures, progressive spasticity, and early-onset cortical atrophy. Mutations in TBCD cause PEBAT. TBCD encodes one of the five co-chaperones playing a pivotal role in microtubule assembly.	Nervous system disease	TBCD [HSA:6904] [KO:K21767]
H02286	Congenital deafness with inner ear agenesis, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM)	Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a new, rare, autosomal recessive deafness syndrome. This syndrome has been linked to mutations in the FGF3 gene. Fibroblast growth ...	Congenital malformation	FGF3 [HSA:2248] [KO:K04358]
H02349	Odontochondrodysplasia Goldblatt syndrome	... anomalies. It has been shown that ODCD is caused by mutations in TRIP11 that encodes golgi-associated microtubule-binding protein (GMAP210). TRIP11 is essential for normal skeletal development and endochondral ...	Congenital malformation	(ODCD1) TRIP11 [HSA:9321] [KO:K23368] (ODCD2) MIA3 [HSA:375056] [KO:K23704]
H02496	Cerebellar, ocular, craniofacial, and genital syndrome	... recessive syndrome caused by loss of function mutations in MAB21L1. COFG is characterized by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism.	Congenital malformation	MAB21L1 [HSA:4081] [KO:K23092]
H02519	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is a neurodevelopmental disorder caused by mutations in MAST1, that encodes a microtubule associated protein.	Congenital malformation	MAST1 [HSA:22983] [KO:K08789]
H02594	Congenital facial palsy with ptosis and velopharyngeal dysfunction	... autosomal dominant disorder caused by mutations in TUBB6, a gene encoding a class V tubulin. Tubulins form microtubules, which are essential for the cytoskeleton and thereby for cell division, differentiation and ...	Nervous system disease	TUBB6 [HSA:84617] [KO:K07375]
H02606	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	... reported that PAMDDFS is caused by mutations in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2). GCP2 is a core component of gamma-tubulin ring complex that regulate the assembly of microtubules.	Congenital malformation	TUBGCP2 [HSA:10844] [KO:K16569]
H02625	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome	... protein levels were markedly reduced in patient cells. PRIM1 deficiency results in growth restriction, microtia and lymphopenia, similar to other replication-associated disorders. However, there are distinctive ...	Congenital malformation	PRIM1 [HSA:5557] [KO:K02684]
H02663	Braddock-Carey syndrome	... that mutations in KIF15 (chromosome 3p21) cause BRDCS. KIF15 is a member of the kinesin superfamily, microtubule-based motor proteins with important cellular functions ranging from intracellular transport ...	Congenital malformation	(BRDCS2) KIF15 [HSA:56992] [KO:K10400]

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