Testing Criteria

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Testing criteria Disorders Genes Date
P63 Related Disorders
  • ADULT Syndrome
    • Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
  • tumor protein p63
    • tumor protein P53-competing protein
    • tumor protein P53-like
    • tumor protein P73-like
2011
P63 Related Disorders
  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
    • Aec Syndrome
    • Hay-Wells Syndrome
  • tumor protein p63
    • tumor protein P53-competing protein
    • tumor protein P53-like
    • tumor protein P73-like
2011
P63 Related Disorders
  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
    • Eec Syndrome 3
  • tumor protein p63
    • tumor protein P53-competing protein
    • tumor protein P53-like
    • tumor protein P73-like
2011
P63 Related Disorders
  • Limb-Mammary Syndrome
  • tumor protein p63
    • tumor protein P53-competing protein
    • tumor protein P53-like
    • tumor protein P73-like
2011
P63 Related Disorders
  • Rapp-Hodgkin Syndrome
    • Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/palate
  • tumor protein p63
    • tumor protein P53-competing protein
    • tumor protein P53-like
    • tumor protein P73-like
2011
P63 Related Disorders
  • Split-Hand/Foot Malformation 4
  • tumor protein p63
    • tumor protein P53-competing protein
    • tumor protein P53-like
    • tumor protein P73-like
2011
Palmoplantar Keratodermas and Cornification Mendelian Disorders 51 Gene Exome Panel
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
    • Arrhythmogenic Right Ventricular Cardiomyopathy 11
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
    • Arc Syndrome
    • Arthrogryposis, Renal Dysfunction, And Cholestasis
  • Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
    • Cednik Syndrome
  • Chanarin-Dorfman Syndrome
    • Chanarin-Dorfman Disease
    • Dorfman-Chanarin Syndrome
    • Ichthyosiform Erythroderma With Leukocyte Vacuolation
    • Ichthyotic Neutral Lipid Storage Disease
    • Neutral Lipid Storage Disease With Ichthyosis
    • Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation
  • Chondrodysplasia Punctata 1, X-Linked Recessive
    • Chondrodysplasia Punctata, Brachytelephalangic
    • Cpxr
  • Chondrodysplasia Punctata 2, X-Linked Dominant
    • Conradi-Hunermann Syndrome
    • Conradi-Hunermann-Happle Syndrome
    • Happle Syndrome
  • Ectodermal Dysplasia/Skin Fragility Syndrome
    • McGrath Syndrome
  • Epidermolytic Hyperkeratosis
    • Bullous Congenital Ichthyosiform Erythroderma
    • Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
    • Bullous Ichthyosiform Erythroderma
    • Epidermolytic Hyperkeratosis
    • Epidermolytic Hyperkeratosis, Late-Onset, Included
  • Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE
    • Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome
  • Erythroderma, Ichthyosiform, Congenital Reticular
  • Hypotrichosis 2
    • .
  • Hypotrichosis 6
  • Hypotrichosis And Recurrent Skin Vesicles
  • Ichthyosis Bullosa Of Siemens
    • Ichthyosis Exfoliativa, Included
    • Ichthyosis, Bullous Type
  • Ichthyosis Hystrix, Curth-Macklin Type
  • Ichthyosis Prematurity Syndrome
    • Ichthyosis Congenita Iv
  • Ichthyosis Vulgaris
    • Ichthyosis Simplex
  • Ichthyosis, Congenital, Autosomal Recessive 1
    • Collodion Baby, Self-Healing
    • Collodion Fetus
    • Desquamation Of Newborn
    • Ichthyosis Congenita
    • Ichthyosis Congenita II
    • Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution
    • Ichthyosis, Lamellar, 1
    • Lamellar Exfoliation Of Newborn
  • Ichthyosis, Congenital, Autosomal Recessive 10
    • 0
  • Ichthyosis, Congenital, Autosomal Recessive 11
  • Ichthyosis, Congenital, Autosomal Recessive 2
    • Collodion Baby, Self-Healing
    • Ichthyosiform Erythroderma, BROCQ Congenital, Nonbullous Form
    • Ichthyosiform Erythroderma, Nonbullous Congenital, 1
  • Ichthyosis, Congenital, Autosomal Recessive 3
    • Collodion Baby, Self-Healing
    • Ichthyosis, Lamellar, 5, Formerly; LI5, Formerly
  • Ichthyosis, Congenital, Autosomal Recessive 4a
  • Ichthyosis, Congenital, Autosomal Recessive 4b
  • Ichthyosis, Congenital, Autosomal Recessive 5
    • Ichthyosis Congenita III
    • Ichthyosis, Lamellar, 3, Formerly; LI3, Formerly
    • Ichthyosis, Nonlamellar And Nonerythrodermic, Congenital, Autosomal Recessive
  • Ichthyosis, Congenital, Autosomal Recessive 6
    • Ichthyosis, Congenital, Autosomal Recessive, NIPAL4-Related
  • Ichthyosis, Congenital, Autosomal Recessive 8
    • Ichthyosis, Lamellar, 4, Formerly
    • Lamellar Ichthyosis, Late-Onset
  • Ichthyosis, Congenital, Autosomal Recessive 9
  • Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
  • Ichthyosis, Hystrix-Like, With Deafness
    • HID Syndrome
    • Hystrix-like Ichthyosis With Deafness
  • Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
  • Ichthyosis, Spastic Quadriplegia, And Mental Retardation
  • Ichthyosis, X-Linked
    • Arsc, S Form, Included
    • Arylsulfatase C, Isozyme S, Included
    • Placental Steroid Sulfatase Deficiency
    • Steroid Sulfatase Deficiency
    • Steroid Sulfatase Deficiency Disease
  • IFAP Syndrome With Or Without BRESHECK Syndrome
    • Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia
  • Inflammatory Skin And Bowel Disease, Neonatal, 1
  • Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
    • KID Syndrome, Autosomal Dominant
  • Keratoderma, Palmoplantar, With Deafness
    • 0
  • Keratosis Follicularis Spinulosa Decalvans, X-Linked
  • Keratosis Palmoplantaris Striata II
    • Keratoderma, Palmoplantar, Striate Form II
    • Striate Palmoplantar Keratoderma II
  • Keratosis Palmoplantaris Striata III
    • .
  • Knuckle Pads, Leukonychia, And Sensorineural Deafness
    • Bart-Pumphrey syndrome
  • Mal De Meleda
    • .
  • Mend Syndrome
  • Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
  • Naxos Disease
    • Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities
    • Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy
    • Mal De Naxos
    • Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair
    • Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
  • Netherton Syndrome
    • ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE|NS|NETHERTON DISEASE|COMEL-NETHERTON SYNDROME
  • Palmoplantar Keratoderma And Woolly Hair
  • Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
  • Palmoplantar Keratoderma, Bothnian Type
    • .
  • Palmoplantar Keratoderma, Epidermolytic
    • Hyperkeratosis, Localized Epidermolytic
    • Keratoderma, Epidermolytic Palmoplantar
    • Keratosis Of Greither
    • Keratosis Palmaris Et Plantaris Familiaris
    • Palmoplantar Keratoderma, Epidermolytic, With Knuckle Pads, Included
    • Palmoplantar Keratoderma, Vorner Type
    • Tylosis
    • Unilateral Palmoplantar Verrucous Nevus, Included
    • Unna-Thost Disease, Epidermolytic
  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques
    • Olmsted Syndrome
  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked
  • Palmoplantar Keratoderma, Nonepidermolytic
  • Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
  • Palmoplantar Keratoderma, Punctate Type Ia
  • Papillon-Lefevre Syndrome
    • Pls|Keratosis Palmoplantaris With Periodontopathia
  • Peeling Skin Syndrome 1
  • Peeling Skin Syndrome 4
    • Ichthyosis Bullosa Of Siemens-Like
    • Ichthyosis, Exfoliative, Autosomal Recessive
  • Peroxisome Biogenesis Disorder 9b
    • Peroxisome Biogenesis Disorder, PEX7-Related, Atypical
    • Refsum Disease, Adult, 2
  • Refsum Disease, Classic
    • Hereditary Motor And Sensory Neuropathy IV
    • Heredopathia Atactica Polyneuritiformis
    • Phytanic Acid Oxidase Deficiency
    • Refsum Disease, Adult, 1
  • Sjogren-Larsson Syndrome
    • Faldh Deficiency
    • Fatty Alcohol:Nad+ Oxidoreductase Deficiency
    • Fatty Aldehyde Dehydrogenase Deficiency
    • Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
  • Tylosis With Esophageal Cancer
    • Keratosis Palmaris Et Plantaris With Esophageal Cancer
    • Palmoplantar Keratoderma With Esophageal Cancer
  • Vohwinkel Syndrome, Variant Form
  • abhydrolase domain containing 5
    • CGI-58
    • NCIE2
  • ADAM metallopeptidase domain 17
    • tumor necrosis factor, alpha, converting enzyme
  • adaptor related protein complex 1 sigma 1 subunit
    • AP19
    • SIGMA1A
    • WUGSC:H_DJ0747G18.2
  • aldehyde dehydrogenase 3 family, member A2
    • FALDH
  • alpha and gamma adaptin binding protein
  • aquaporin 5
    • 0
  • arachidonate 12-lipoxygenase, 12R type
  • arachidonate lipoxygenase 3
  • arylsulfatase E (chondrodysplasia punctata 1)
  • ATP-binding cassette, sub-family A, member 12
    • ATP-binding cassette, sub-family A (ABC1), member 12
    • ichthyosis congenita II, lamellar ichthyosis B
  • cathepsin C
    • DPP1
  • ceramide synthase 3
    • MGC27091
  • claudin 1
    • ILVASC
    • SEMP1
  • corneodesmosin
    • D6S586E
  • cystatin A
    • 0
  • cytochrome P450, family 4, subfamily F, member 22
    • cytochrome P450, family 4, subfamily F, polypeptide 22
    • cytochrome P450, subfamily IVF, polypeptide 22
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmocollin 3
    • CDHF3
    • DSC
    • DSC1
    • DSC2
  • desmoglein 1
    • CDHF4
  • desmoglein 4
    • CDHF13
    • LAH
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • ELOVL fatty acid elongase 4
    • elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
    • elongation of very long chain fatty acids-like 4
  • emopamil binding protein (sterol isomerase)
    • 3-@beta-hydroxysteroid-delta-8,delta-7 isomerase
    • emopamil-binding protein
  • filaggrin
  • gap junction protein, beta 2
    • connexin 26
    • gap junction protein, 26-kd
    • gap junction protein, beta 2, 26kDa
    • gap junction protein, beta 2, 26kda (connexin 26)
    • gap junction protein, beta-2
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • keratin 1
    • cytokeratin 1
    • epidermolytic hyperkeratosis
    • keratin 1
  • keratin 10
    • (epidermolytic hyperkeratosis
    • cytokeratin 10
    • keratin 10
    • keratosis palmaris et plantaris
  • keratin 2
    • keratin 2a
    • keratin 2a (epidermal ichthyosis bullosa of siemens)
    • keratin 2e
  • keratin 6C
    • 0
  • keratin 9
    • epidermolytic palmoplantar keratoderma
    • keratin 9
  • KN motif and ankyrin repeat domains 2
    • KIAA1518
  • lipase family member N
    • bA186O14.3
  • loricrin
    • 0
  • membrane bound transcription factor peptidase, site 2
    • keratosis follicularis spinulosa decalvans
    • membrane-bound transcription factor protease, site 2
  • NIPA-like domain containing 4
    • NIPA-like 4
  • patatin-like phospholipase domain containing 1
    • dJ50J22.1
    • FLJ38755
  • peroxisomal biogenesis factor 7
    • peroxin 7
    • peroxisomal pts2 receptor
    • peroxisome biogenesis factor 7
  • phytanoyl-CoA 2-hydroxylase
    • phytanoyl-CoA hydroxylase
    • phytanoyl-CoA hydroxylase (Refsum disease)
  • plakophilin 1
    • plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
  • rhomboid 5 homolog 2
    • rhomboid 5 homolog 2 (Drosophila)
    • rhomboid, veinlet-like 6 (Drosophila)
    • tylosis with oesophageal cancer
  • SAM and SH3 domain containing 1
    • dJ323M4.1
    • KIAA0790
    • SH3D6A
  • secreted LY6/PLAUR domain containing 1
    • ANUP
    • ARS
    • ArsB
    • LY6LS
    • MDM
  • serine peptidase inhibitor, Kazal type 5
    • serine protease inhibitor, Kazal type 5
  • solute carrier family 27 member 4
    • ACSVL4
    • FATP4
  • steroid sulfatase
    • ARSC, S form, included
    • arylsulfatase C, isozyme S, included
    • ichthyosis, X-linked
    • placental steroid sulfatase deficiency
    • steroid sulfatase (microsomal), arylsulfatase C, isozyme S
    • steroid sulfatase (microsomal), isozyme S
    • steroid sulfatase deficiency
    • steroid sulfatase deficiency disease
  • suppression of tumorigenicity 14
    • HAI
    • MT-SP1
    • SNC19
    • TMPRSS14
  • synaptosome associated protein 29
    • CEDNIK
    • SNAP-29
  • transglutaminase 1
    • transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
  • transient receptor potential cation channel, subfamily V, member 3
    • VRL3
  • VPS33B, late endosome and lysosome associated
    • vacuolar protein sorting 33 homolog B (yeast)
2017
Pancreatic And Cerebellar Agenesis
  • Pancreatic And Cerebellar Agenesis
    • Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis
  • pancreas specific transcription factor, 1A
2008
Pancreatic Cancer, Familial, 8 Gene Panel
  • Melanoma-Astrocytoma Syndrome
    • Melanoma And Neural System Tumor Syndrome
  • Melanoma-Pancreatic Cancer Syndrome
    • Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome
  • Pancreatic Cancer
    • Pancreatic Acinar Carcinoma
    • Pancreatic Carcinoma
  • Pancreatitis, Hereditary
    • Hp
    • Hpc
    • Pancreatitis, Calcific, Included
    • Pancreatitis, Chronic
  • Tropical Calcific Pancreatitis
  • BRCA2, DNA repair associated
    • brca1/brca2-containing complex, subunit 2
    • breast cancer 2 gene
    • breast cancer 2, early onset
    • breast cancer 2, early-onset, included
    • breast cancer, type 2, included
    • fanconi anaemia, complementation group d1
    • fanconi anemia, complementation group d1
  • chymotrypsin C
    • chymotrypsin C (caldecrin)
  • cyclin-dependent kinase 4
    • cell division kinase 4
  • cyclin-dependent kinase inhibitor 2A
    • CDK4 inhibitor
    • cyclin-dependent kinase inhibitor 2A
    • cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
    • multiple tumor suppressor 1
  • protease, serine 1
    • protease, serine 1 (trypsin 1)
    • protease, serine, 1
    • trypsin 1
    • trypsinogen 1
    • trypsinogen deficiency, included
    • trypsinogen, cationic
  • protease, serine 2
    • protease, serine 2 (trypsin 2)
  • serine peptidase inhibitor, Kazal type 1
    • pancreatic secretory trypsin inhibitor
    • tumor-associated trypsin inhibitor
  • serine/threonine kinase 11
    • serine/threonine kinase 11 (peutz-jeghers syndrome)
    • serine/threonine protein kinase 11
2016
Pancreatitis, Hereditary
  • Pancreatitis, Hereditary
    • Hp
    • Hpc
    • Pancreatitis, Calcific, Included
    • Pancreatitis, Chronic
  • protease, serine 1
    • protease, serine 1 (trypsin 1)
    • protease, serine, 1
    • trypsin 1
    • trypsinogen 1
    • trypsinogen deficiency, included
    • trypsinogen, cationic
  • serine peptidase inhibitor, Kazal type 1
    • pancreatic secretory trypsin inhibitor
    • tumor-associated trypsin inhibitor
2009

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