Search Result

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Entry	Name	Description	Category	Gene
H01771	Congenital ichthyosis	... additional cutaneous and/or systemic manifestations. In patients with ichthyosis, the barrier function of the skin is compromised and has a decreased ability to protect against bacterial or chemical assault and ...	Congenital malformation
H01799	Vibratory urticaria Vibratory angioedema	Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory ...	Immune system disease; Skin disease	ADGRE2 [HSA:30817] [KO:K08443]
H01805	Tricho-hepato-enteric syndrome Syndromic diarrhea	... severe liver cirrhosis. It has been linked to abnormalities in two components of the putative human ski complex: SKIV2L and TTC37. During their clinical course, most of the patients require parenteral ...	Congenital malformation	(THES1) SKIC3 [HSA:9652] [KO:K12600] (THES2) SKIC2 [HSA:6499] [KO:K12599]
H01809	Sturge-Weber syndrome	... somatic activating missense mutation in the GNAQ gene was recently identified in affected tissues (both skin and brain). This gene encodes the Q-class G protein alpha-subunit, activation of which increases ...	Congenital malformation	GNAQ [HSA:2776] [KO:K04634]
H01820	Carney complex	Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. Further manifestations ...	Endocrine and metabolic disease	PRKAR1A [HSA:5573] [KO:K04739] MYH8 [HSA:4626] [KO:K24220]
H01832	Lenz-Majewski syndrome Lenz-Majewski hyperostotic dwarfism	Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct ...	Congenital malformation	PTDSS1 [HSA:9791] [KO:K08729]
H01848	Acquired idiopathic generalized anhidrosis	Acquired idiopathic generalized anhidrosis (AIGA) is a rare condition, characterized by generalized absence of sweating without other autonomic and neurologic dysfunction. Most of the cases reported are ...	Skin disease
H01872	Microcephaly-capillary malformation syndrome	... intractable epilepsy, profound developmental delay, and multiple small capillary malformations on the skin. In addition, affected patients have variable dysmorphic facial features and hypoplastic distal ...	Congenital malformation	STAMBP [HSA:10617] [KO:K11866]
H01875	Infantile hepatic hemangioma	... syndrome. The term IHH is preferred to "hemangioendothelioma" because the clinical and biologic behavior is similar to infantile hemangiomas [DS:H01482] that affect the skin and other parts of the body.	Neoplasm
H01896	Aplasia cutis congenita	Aplasia cutis congenita (ACC) is a rare malformation characterized by localized congenital absence of the skin, mostly affecting the scalp vertex. It can occur in isolation or as part of a heterogeneous group ...	Congenital malformation	BMS1 [HSA:9790] [KO:K14569]
H01902	Brittle cornea syndrome	... leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription ...	Congenital malformation	(BCS1) ZNF469 [HSA:84627] [KO:K27861] (BCS2) PRDM5 [HSA:11107] [KO:K22534]
H01904	Microphthalmia with linear skin defects syndrome Linear skin defects with multiple congenital anomalies MIDAS syndrome	Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with ...	Congenital malformation	(LSDMCA1) HCCS [HSA:3052] [KO:K01764] (LSDMCA2) COX7B [HSA:1349] [KO:K02271] (LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351]
H01905	Trichomegaly	Eyelash trichomegaly is defined as eyelashes which are found to be of increased length, thickness, and pigmentation. It can be present at birth as part of variety congenital syndromes or as a benign familial ...	Skin disease	FGF5 [HSA:2250] [KO:K04358]
H01910	Infantile myofibromatosis	... solitary form is the commonest and occurs as a single cutaneous nodule. The multicentric form involves the skin, subcutaneous tissues, muscles, and bone. The course is generally benign, with no metastases and ...	Neoplasm	(IMF1) PDGFRB [HSA:5159] [KO:K05089] (IMF2) NOTCH3 [HSA:4854] [KO:K20995]
H01934	Barber-Say syndrome	... disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that BSS is due to mutations in TWIST2.	Congenital malformation	TWIST2 [HSA:117581] [KO:K09069]
H01989	Beare-Stevenson syndrome Beare-Stevenson cutis gyrata syndrome	... gyrata syndrome (BSTVS) is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, ...	Congenital malformation	FGFR2 [HSA:2263] [KO:K05093]
H02021	Chediak-Higashi syndrome	Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports ...	Primary immunodeficiency	LYST [HSA:1130] [KO:K22937]
H02033	Mucormycosis	... called mucormycosis. Infection sites include the lungs, rhinocerebral spaces, sinuses, soft tissue, skin, gastrointestinal tract and bloodstream. Genera from the order Entomophthorales produce a chronic ...	Fungal infectious disease
H02039	Kowarski syndrome	Kowarski syndrome is short stature associated with bioinactive growth hormone (GH). It is clinically characterized by normal or slightly increased GH secretion, pathologically low IGF-I levels, and normal ...	Endocrine and metabolic disease	GH1 [HSA:2688] [KO:K05438]
H02043	Capillary malformation-arteriovenous malformation	... dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association with AVMs or fistulas (AVF). CMs in this syndrome usually present at birth ...	Congenital malformation	(CMAVM1) RASA1 [HSA:5921] [KO:K04352] (CMAVM2) EPHB4 [HSA:2050] [KO:K05113]
H02047	Bohring-Opitz syndrome	... trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. BOPS is considered the more severe form of ...	Congenital malformation	ASXL1 [HSA:171023] [KO:K11471]
H02083	Focal facial dermal dysplasia	... dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. Four subtypes are classified by the bitemporal (FFDD1-3) ...	Congenital malformation	(FFDD3) TWIST2 [HSA:117581] [KO:K09069] (FFDD4) CYP26C1 [HSA:340665] [KO:K12665]
H02131	UV-sensitive syndrome	... is an autosomal recessive disorder characterized by mild photosensitivity in sun-exposed areas of the skin, with freckling and telangiectasia, but without the high propensity to skin cancer. UV(S)S and Cockayne ...	Skin disease	(UVSS1) ERCC6 [HSA:2074] [KO:K10841] (UVSS2) ERCC8 [HSA:1161] [KO:K10570] (UVSS3) UVSSA [HSA:57654] [KO:K23720]
H02185	Spondylometaphyseal dysplasia	... abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes ...	Congenital malformation	(SMDK) TRPV4 [HSA:59341] [KO:K04973] (SMDCF) FN1 [HSA:2335] [KO:K05717] (SMDAX) CFAP410 [HSA:755] [KO:K23456] (SMDCD) PLCB3 [HSA:5331] [KO:K05858] (SMDP) PRKG2 [HSA:5593] [KO:K19477]
H02228	Acromicric dysplasia	... dominant bone dysplasia characterised by severe short stature, short hands and feet, joint limitations, skin thickening, and distinct facial features. It has been reported that mutations in FBN1 are responsible ...	Congenital malformation	FBN1 [HSA:2200] [KO:K06825]
H02229	Terminal osseous dysplasia Terminal osseous dysplasia and pigmentary defects	... dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. TOD is caused by a mutation in the ...	Congenital malformation	FLNA [HSA:2316] [KO:K04437]
H02236	Keppen-Lubinsky syndrome	... (KPLBS) is a rare condition characterized by severely reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused by mutations in KCNJ6, ...	Inherited metabolic disorder	KCNJ6 [HSA:3763] [KO:K05000]
H02239	Ehlers-Danlos syndrome, spondylodysplastic type	... B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint ...	Congenital malformation	(EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733] (EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734] (EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719]
H02240	Ehlers-Danlos syndrome periodontal type	... characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. EDSPD is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of ...	Congenital malformation	(EDSPD1) C1R [HSA:715] [KO:K01330] (EDSPD2) C1S [HSA:716] [KO:K01331]
H02241	Ehlers-Danlos syndrome cardiac valvular type	... syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction ...	Congenital malformation	(EDSCV) COL1A2 [HSA:1278] [KO:K06236]
H02244	Ehlers-Danlos syndrome dermatosparaxis type Ehlers-Danlos syndrome type VIIC	... dermatosparaxis type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2, encoding procollagen N-endopeptidase	Congenital malformation	(EDSDERMS) ADAMTS2 [HSA:9509] [KO:K08618]
H02245	Ehlers-Danlos syndrome kyphoscoliosis type	... disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin fragility. It is caused by a deficiency of collagen lysyl hydroxylase due to mutations in PLOD1 ...	Congenital malformation	(EDSKSCL1) PLOD1 [HSA:5351] [KO:K00473] (EDSKSCL2) FKBP14 [HSA:55033] [KO:K09577]
H02248	MEND syndrome	... with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular ...	Congenital malformation	EBP [HSA:10682] [KO:K01824]
H02262	PEBEL Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy	... autosomal recessive infancy-onset disease characterized by ataxia, cerebellar edema, spinal myelopathy, and skin lesions. It is triggered by febrile infections, leading to coma and finally to death within the ...	Nervous system disease	(PABEL1) NAXE [HSA:128240] [KO:K17759] (PABEL2) NAXD [HSA:55739] [KO:K17757]
H02275	Batten disease Spielmeyer-Vogt disease Juvenile neuronal ceroid lipofuscinoses	... with vision loss, followed by seizures and progressive neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. ...	Inherited metabolic disorder, Lysosomal disease	CLN3 [HSA:1201] [KO:K12389]
H02281	Isolated anhidrosis with normal sweat glands Dann-Epstein-Sohar syndrome	Anhidrosis is defined as the absence of perspiration in the presence of an appropriate stimulus such as heat, exercise, or pharmacological agonists. Isolated anhidrosis with normal sweat glands (ANHD) ...	Skin disease	ITPR2 [HSA:3709] [KO:K04959]
H02295	Adermatoglyphia	... epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of SMARCAD1 directly or indirectly perturbs the expression of important signalling ...	Congenital malformation	SMARCAD1 [HSA:56916] [KO:K14439]
H02318	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) is a form of 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic ...	Reproductive system disease	RSPO1 [HSA:284654] [KO:K19471]
H02350	Dyschromatosis universalis hereditaria	Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early ...	Skin disease	(DUH1) SASH1 [HSA:23328] [KO:K23705] (DUH3) ABCB6 [HSA:10058] [KO:K05661]
H02385	Eumycetoma	Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma [DS:H01451]) or fungi (eumycetoma). It is endemic in tropical and subtropical regions ...	Fungal infectious disease

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