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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00617 | Desmosterolosis | Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are caused ... | Inherited metabolic disorder | DHCR24 [HSA:1718] [KO:K09828] | |
| H00620 | Axenfeld-Rieger syndrome | ... dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of the iris, and ectopic pupils. Open-angle glaucoma can lead ... | Congenital malformation |
(RIEG1) PITX2 [HSA:5308] [KO:K04686] (RIEG3) FOXC1 [HSA:2296] [KO:K09396] |
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| H00621 |
Alopecia neurologic defects and endocrinopathy syndrome ANE syndrome |
... autosomal recessive disease that is clinically heterogeneous. ANE syndrome patients display multiple signs including a varied amount of hair loss, mental retardation, progressive loss of motor ability beginning ... | Ribosomopathy | RBM28 [HSA:55131] [KO:K14573] | |
| H00622 |
Hypoparathyroidism-retardation-dysmorphism syndrome Sanjad-Sakati syndrome |
... hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial anomalies. The dysmorphic features include deep-set eyes, depressed nasal bridge, thin upper lip, and ear anomalies. | Congenital malformation | TBCE [HSA:6905] [KO:K21768] | |
| H00626 | Focal segmental glomerulosclerosis | ... cause of primary FSGS has been ill-defined. Secondary FSGS is with recognized etiologic associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial ... | Urinary system disease |
(FSGS1) ACTN4 [HSA:81] [KO:K05699] (FSGS2) TRPC6 [HSA:7225] [KO:K04969] (FSGS3) CD2AP [HSA:23607] [KO:K13738] (FSGS4) APOL1 [HSA:8542] [KO:K23585] (FSGS5) INF2 [HSA:64423] [KO:K23958] (FSGS6) MYO1E [HSA:4643] [KO:K10356] (FSGS7) PAX2 [HSA:5076] [KO:K15608] (FSGS8) ANLN [HSA:54443] [KO:K18621] (FSGS9) CRB2 [HSA:286204] [KO:K16681] (FSGS10) LMX1B [HSA:4010] [KO:K09371] (FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001] |
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| H00627 | Premature ovarian failure | ... environmental mechanisms. X chromosome defects such as Turner syndrome or trisomy X as well as many genes including BMP15 andFMR1 are associated with POF development. For the environmental causes, medical intervention ... | Reproductive system disease |
(POF1) FMR1 [HSA:2332] [KO:K15516] (POF2A) DIAPH2 [HSA:1730] [KO:K05741] (POF2B) POF1B [HSA:79983] [KO:K23917] (POF3) FOXL2 [HSA:668] [KO:K09405] (POF4) BMP15 [HSA:9210] [KO:K05498] (POF5) NOBOX [HSA:135935] [KO:K24199] (POF6) FIGLA [HSA:344018] [KO:K09066] (POF7) NR5A1 [HSA:2516] [KO:K08560] (POF8) STAG3 [HSA:10734] [KO:K13055] (POF9) HFM1 [HSA:164045] [KO:K15271] (POF10) MCM8 [HSA:84515] [KO:K10737] (POF11) ERCC6 [HSA:2074] [KO:K10841] (POF12) SYCE1 [HSA:93426] [KO:K19534] (POF13) MSH5 [HSA:4439] [KO:K08741] (POF14) GDF9 [HSA:2661] [KO:K22673] (POF15) FANCM [HSA:57697] [KO:K10896] (POF16) BNC1 [HSA:646] [KO:K24146] (POF17) XRCC2 [HSA:7516] [KO:K10879] (POF18) C14orf39 [HSA:317761] [KO:K25705] (POF19) HSF2BP [HSA:11077] [KO:K25791] (POF20) MSH4 [HSA:4438] [KO:K08740] (POF21) TP63 [HSA:8626] [KO:K10149] (POF22) KASH5 [HSA:147872] [KO:K22595] (POF23) MEIOB [HSA:254528] [KO:K22420] (POF24) SYCP2L [HSA:221711] [KO:K19529] |
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| H00631 | Cornelia de Lange syndrome | ... hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. | Congenital malformation |
(CDLS1) NIPBL [HSA:25836] [KO:K06672] (CDLS2) SMC1A [HSA:8243] [KO:K06636] (CDLS3) SMC3 [HSA:9126] [KO:K06669] (CDLS4) RAD21 [HSA:5885] [KO:K06670] (CDLS5) HDAC8 [HSA:55869] [KO:K11405] (CDLS6) BRD4 [HSA:23476] [KO:K11722] |
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| H00638 |
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome EEC syndrome |
... claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of eyes and urinary tract. | Congenital malformation | TP63 [HSA:8626] [KO:K10149] | |
| H00655 | McLeod syndrome | McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late ... | Nervous system disease | (MCLDS) XK [HSA:7504] [KO:K19522] | |
| H00660 |
Congenital contractural arachnodactyly Beals syndrome |
... individuals have 'crumpled' ears, contractures of major joints, and camptodactyly. Additional features include muscular hypoplasia and scoliosis. In contrast to Marfan syndrome, CCA does not affect the aorta ... | Congenital malformation | FBN2 [HSA:2201] [KO:K23342] | |
| H00663 | Restrictive dermopathy | ... autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles ... | Congenital malformation |
(RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013] (RSDM2) LMNA [HSA:4000] [KO:K12641] |
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| H00681 |
Acne inversa Hidradenitis suppurativa |
... of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include recurrent formation of painful skin abscesses, fistulating sinuses, and disfiguring scars. | Skin disease |
(ACNINV1) NCSTN [HSA:23385] [KO:K06171] (ACNINV2) PSENEN [HSA:55851] [KO:K06170] (ACNINV3) PSEN1 [HSA:5663] [KO:K04505] |
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| H00682 |
Woodhouse-Sakati syndrome Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome |
... hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome ... | Congenital malformation | C2orf37 [HSA:80067] [KO:K23331] | |
| H00684 | Pachyonychia congenita | ... of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and ... | Congenital malformation |
(PC1) KRT16 [HSA:3868] [KO:K07604] (PC2) KRT17 [HSA:3872] [KO:K07604] (PC3) KRT6A [HSA:3853] [KO:K07605] (PC4) KRT6B [HSA:3854] [KO:K07605] |
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| H00692 |
Lowe syndrome Oculocerebrorenal Dystrophy (OCRL) |
... phosphatidylinositol (4, 5) biphosphate 5-phosphatase, present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and ... | Inherited metabolic disorder | OCRL [HSA:4952] [KO:K01099] | |
| H00694 | Dent disease | ... disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive ... | Urinary system disease |
(DENT1) CLCN5 [HSA:1184] [KO:K05012] (DENT2) OCRL [HSA:4952] [KO:K01099] |
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| H00696 |
Haim-Munk syndrome Keratosis palmoplantaris periodontopathia onychogryposis |
... keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly, nail dysplasia, pes planus, and acroosteolysis. Mutations in cathepsin ... | Congenital malformation | CTSC [HSA:1075] [KO:K01275] | |
| H00698 | Nemaline myopathy | ... recessive manner. It is characterized by the presence of rods or nemaline bodies, which are red-purple inclusions in myofibers detected by modified Gomori trichrome technique. The hallmark symptoms are generalized ... | Nervous system disease; Musculoskeletal disease |
(NEM1) TPM3 [HSA:7170] [KO:K09290] (NEM2) NEB [HSA:4703] [KO:K18267] (NEM3) ACTA1 [HSA:58] [KO:K10354] (NEM4) TPM2 [HSA:7169] [KO:K10374] (NEM5A/5B/5C) TNNT1 [HSA:7138] [KO:K10372] (NEM6) KBTBD13 [HSA:390594] [KO:K21913] (NEM7) CFL2 [HSA:1073] [KO:K05765] (NEM8) KLHL40 [HSA:131377] [KO:K10473] (NEM9) KLHL41 [HSA:10324] [KO:K10473] (NEM10) LMOD3 [HSA:56203] [KO:K22030] (NEM11) MYPN [HSA:84665] [KO:K22028] |
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| H00699 | Central core disease | ... dominantly inherited CCD is variable but usually mild and non-progressive; however, more severe forms including the fetal akinesia syndrome have also been reported associated with recessive or de novo dominant ... | Nervous system disease; Musculoskeletal disease | RYR1 [HSA:6261] [KO:K04961] | |
| H00703 |
Myosin storage myopathy Hyaline body myopathy |
... ranging from birth through childhood, and occasionally middle age. Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency ... | Nervous system disease; Musculoskeletal disease | MYH7 [HSA:4625] [KO:K17751] | |
| H00704 | Oculopharyngeal muscular dystrophy | ... associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is caused by expansions of the short (GCG) trinucleotide repeat ... | Nervous system disease; Musculoskeletal disease |
(OPMD1) PABPN1 [HSA:8106] [KO:K14396] (OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158] |
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| H00712 | KID/HID syndrome | ... a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe ... | Congenital malformation |
(KIDAD/HID) GJB2 [HSA:2706] [KO:K07621] (KIDAR) AP1B1 [HSA:162] [KO:K12392] |
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| H00713 | Beckwith-Wiedemann syndrome | ... predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in a cluster of imprinted genes found within a genomic region of approximately one megabase on chromosome ... | Congenital malformation |
CDKN1C [HSA:1028] [KO:K09993] IGF2 [HSA:3481] [KO:K13769] KCNQ1 [HSA:3784] [KO:K04926] |
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| H00721 | Pyogenic bacterial infections, recurrent, due to MYD88 deficiency | Autosomal recessive MyD88 deficiency predisposes affected patients to recurrent pyogenic bacterial infections, including invasive pneumococcal disease. The patients are resistant to other microbes. | Immune system disease | MYD88 [HSA:4615] [KO:K04729] | |
| H00729 |
Sick sinus syndrome Sinus node dysfunction |
... syncope, pre-syncope, palpitations, or dizziness. SSS has multiple manifestations on electrocardiogram, including sinus bradycardia, sinus arrest, sinoatrial block, and alternating patterns of bradycardia and ... | Cardiovascular disease |
(SSS1) SCN5A [HSA:6331] [KO:K04838] (SSS2) HCN4 [HSA:10021] [KO:K04957] (SSS3) MYH6 [HSA:4624] [KO:K17751] (SSS4) GNB2 [HSA:2783] [KO:K04537] |
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| H00734 | Autosomal recessive congenital ichthyosis | ... comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows ... | Congenital malformation |
(ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619] (ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021] (ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684] (ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646] (ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731] (ARCI6) NIPAL4 [HSA:348938] [KO:K22733] (ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210] (ARCI9) CERS3 [HSA:204219] [KO:K24622] (ARCI10) PNPLA1 [HSA:285848] [KO:K16813] (ARCI11) ST14 [HSA:6768] [KO:K08670] (ARCI12) CASP14 [HSA:23581] [KO:K04401] (ARCI13) SDR9C7 [HSA:121214] [KO:K24425] (ARCI14) SULT2B1 [HSA:6820] [KO:K01015] |
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| H00736 |
Dorfman-Chanarin syndrome Chanarin-Dorfman syndrome |
... ichthyosis similar to that of non-bullous congenital ichthyosiform erythroderma. Other characteristics include hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 ... | Inherited metabolic disorder | ABHD5 [HSA:51099] [KO:K13699] | |
| H00740 | Ichthyosis follicularis, alopecia, and photophobia syndrome | ... noncicatricial universal alopecia. Photophobia is also present in early childhood. Other features include short stature, seizures, and mental retardation. The causative gene is MBTPS2 which encodes a membrane-embedded ... | Congenital malformation |
(IFAP1) MBTPS2 [HSA:51360] [KO:K07765] (IFAP2) SREBF1 [HSA:6720] [KO:K07197] |
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| H00744 |
Potassium-aggravated myotonia Sodium channel myotonia |
... channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with very similar phenotypes: myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive ... | Nervous system disease; Musculoskeletal disease | SCN4A [HSA:6329] [KO:K04837] | |
| H00745 | Hyperkalemic periodic paralysis | ... attacks of flaccid limb paralysis or, rarely, weakness of the eye and throat muscles. Triggers for these attacks include ingestion of potassium-rich food, rest after strenuous exercise, and cold exposure. | Nervous system disease; Musculoskeletal disease | (HYPP) SCN4A [HSA:6329] [KO:K04837] | |
| H00749 | Episodic ataxias | ... system manifestations in both conditions. The current classification is based on genetics and actually includes seven distinct subtypes. But these variants other than EA1 and EA2 are rare, some only occurring ... | Nervous system disease |
(EA1) KCNA1 [HSA:3736] [KO:K04874] (EA2) CACNA1A [HSA:773] [KO:K04344] (EA5) CACNB4 [HSA:785] [KO:K04865] (EA6) SLC1A3 [HSA:6507] [KO:K05614] (EA9) SCN2A [HSA:6326] [KO:K04834] |
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| H00752 | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome | ... Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme adnatum and cleft lip/palate. Ectodermal findings include hair, nail, teeth and sweat gland dystrophies. | Congenital malformation | TP63 [HSA:8626] [KO:K10149] | |
| H00756 | Pitt-Hopkins syndrome | Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ... | Congenital malformation |
(PTHS) TCF4 [HSA:6925] [KO:K15603] (PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380] (PTHSL2) NRXN1 [HSA:9378] [KO:K07377] |
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| H00766 | Wolcott-Rallison syndrome | ... growth retardation. Diabetes appears during the first months of life in most patients and major skeletal manifestations include the long bones, pelvis and vertebrae. Liver is also affected in the disease. | Endocrine and metabolic disease | EIF2AK3 [HSA:9451] [KO:K08860] | |
| H00769 |
Hyperekplexia Startle disease |
... Genetic analysis has revealed mutations in genes for several postsynaptic proteins involved in orchestrating glycinergic neurotransmission, including the glycine receptor (GlyR) alpha1 and beta subunits. | Nervous system disease |
(HKPX1) GLRA1 [HSA:2741] [KO:K05193] (HKPX2) GLRB [HSA:2743] [KO:K05196] (HKPX3) SLC6A5 [HSA:9152] [KO:K05038] (HKPX4) ATAD1 [HSA:84896] [KO:K22530] |
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| H00776 |
Congenital motor nystagmus (CMN) Idiopathic congenital nystagmus (ICN) |
... autosomal recessive, or an X-linked trait. At least six genetic loci for CMN have been suggested, including three loci for autosomal dominant CMN, and three loci for X-linked CMN. A variety of mutations ... | Nervous system disease |
(NYS1) FRMD7 [HSA:90167] [KO:K23971] (NYS6) GPR143 [HSA:4935] [KO:K08470] |
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| H00777 |
SEMD, short limb-hand type SEMD, short limb-abnormal calcification type |
... limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition include short stature with typical short hands and broad, puffy fingers, a narrow chest, and a characteristic ... | Congenital malformation | DDR2 [HSA:4921] [KO:K05125] | |
| H00783 | Febrile seizures | ... epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes including FS. Severe epilepsy phenotypes such as Dravet syndrome (SMEI) have also been described within ... | Nervous system disease |
(FEB2) HCN2 [HSA:610] [KO:K04955] (FEB3) SCN1A [HSA:6323] [KO:K04833] (FEB4) ADGRV1 [HSA:84059] [KO:K18263] (FEB8) GABRG2 [HSA:2566] [KO:K05186] (FEB11) CPA6 [HSA:57094] [KO:K08782] |
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| H00784 | Localized autosomal recessive hypotrichosis | ... Affected individuals display short, sparse hairs on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of hypotrichosis from almost normal to ... | Skin disease |
(LAH1) DSG4 [HSA:147409] [KO:K07599] (LAH2) LIPH [HSA:200879] [KO:K19404] (LAH3) P2Y5 [HSA:10161] [KO:K04273] |
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| H00786 | Hypotrichosis | Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH) ... | Skin disease |
(HYPT1) APCDD1 [HSA:147495] [KO:K25812] (HYPT2) CDSN [HSA:1041] [KO:K23457] (HYPT3) KRT74 [HSA:121391] [KO:K07605] (HYPT4) HRURF [HSA:120766137] (HYPT4/MUHH1) HR [HSA:55806] [KO:K00478] (HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277] (HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599] (HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404] (HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273] (HYPT11) SNRPE [HSA:6635] [KO:K11097] (HYPT12) RPL21 [HSA:6144] [KO:K02889] (HYPT13) KRT71 [HSA:112802] [KO:K07605] (HYPT14) LSS [HSA:4047] [KO:K01852] (HYPT15) C3orf52 [HSA:79669] [KO:K26953] |
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