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Gene: Mta2 MGI:1346340

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
metastasis-associated gene family, member 2
Synonyms:
Mta1l1,  mmta2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mta2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mta2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro... ORPHA:567544
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy... OMIM:617006
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... OMIM:613496
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Hepatomegaly, Alopecia, Elevated circulati... OMIM:615559
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Lipodystrophy, Autoimmunity, Proteinuria, Mesangial hyp... ORPHA:329918
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... ORPHA:3261
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Generalized li... ORPHA:79086
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive... OMIM:608709
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Hyperkeratosis,... ORPHA:454
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia OMIM:247800
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Skin rash, Eczema, Elevated c... OMIM:615688
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... OMIM:613779
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Systemic lupus erythe... ORPHA:498359
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Lipodystrophy, Hyper... OMIM:617591
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... ORPHA:3243
Immunodeficiency 22
Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ... OMIM:615758
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... OMIM:300635
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... OMIM:616414
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the... ORPHA:33577
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Complement Component 4A Deficiency
Purpura, Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal ... ORPHA:634
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ... ORPHA:101330
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... ORPHA:37042
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... OMIM:613913
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:444463
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema,... OMIM:619183
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concentration, Increased circul... OMIM:617099
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Death in infancy, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:619644
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, S... OMIM:619375
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super... ORPHA:284426
Ulerythema Ophryogenesis
Acne, Miscarriage, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... ORPHA:3406
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn... ORPHA:228119
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Increased circulating IgE leve... OMIM:304790
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anti-thyroid p... ORPHA:49041
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Pruritu... OMIM:620010
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Death in infancy, Hypoalbuminemia, Ichthyosis, Dry skin ORPHA:1954
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Autoimmunit... ORPHA:47
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin ORPHA:140933
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatomegaly, Proteinuria,... OMIM:613404
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Acral ulceration, Alopec... ORPHA:90291
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... OMIM:613953
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Recurrent pneumonia, Increased circ... OMIM:610163
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Abnormal ... ORPHA:90159
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... ORPHA:91139
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Dissecting Cellulitis Of The Scalp
Pruritus, Abnormal hair morphology, Recurrent skin infections, Cellulitis ORPHA:345
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Pro... OMIM:619858
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Say-Barber-Miller Syndrome
Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Cry... ORPHA:3132
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Lamellar Ichthyosis
Renal insufficiency, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Sparse hair, ... ORPHA:313
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Postinfectious Vasculitis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin... ORPHA:48435
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Omenn Syndrome
Hepatomegaly, Alopecia, Autoimmunity, Pneumonia, Pruritus, Thickened skin, Splenomegaly, Thyroidi... ORPHA:39041
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullou... ORPHA:312
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis... ORPHA:100976
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Acquired Partial Lipodystrophy
Glomerulopathy, Lipoatrophy, Autoimmunity, Proteinuria, Microscopic hematuria, Hepatic steatosis,... ORPHA:79087
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Chilblain Lupus 1
Antinuclear antibody positivity, Chilblains, Skin ulcer OMIM:610448
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Autoimmunity, ... ORPHA:51
Thymoma
Myositis, Glomerulonephritis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyt... ORPHA:99867
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, H... OMIM:615508
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au... ORPHA:99931
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Acantholysis, Pruritus, Pustule, Crusting erythematous der... ORPHA:79481
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Skin ulcer, Hepatosplenomegaly ORPHA:86884
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz... OMIM:256500
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h... ORPHA:90368
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Psoriasiform lesion, Anti-histo... ORPHA:163525
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Palmoplantar kerat... ORPHA:3162
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... OMIM:170100
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperker... ORPHA:2584
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated ci... OMIM:614376
Pgm3-Cdg
Rheumatoid factor positive, Increased circulating IgG level, Chronic otitis media, Membranoprolif... ORPHA:443811
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn... ORPHA:275555
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... OMIM:242300
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Hypoalbuminemia, Death in infancy OMIM:227090
Immunodeficiency 58
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... OMIM:618131
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Increase... ORPHA:169160
Chronic Mucocutaneous Candidiasis
Dyspareunia, Recurrent urinary tract infections, Skin rash, Abnormal dental enamel morphology, Pr... ORPHA:1334
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu... ORPHA:572
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ... OMIM:612281
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Skin ulcer, Arthritis, Inc... ORPHA:69126
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... OMIM:615598
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Flexion contracture, Renal cortical cysts, Hyperkeratosis, Scaling skin, Erythr... OMIM:609180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Decreased lymphocyte proliferation ... OMIM:606367
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Thickened skin, Leukonychia,... ORPHA:2526
Ichthyosis With Confetti
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nipples, Erythroderm... OMIM:609165
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic rhinitis, Eczema, ... OMIM:615816
Trichothiodystrophy 1, Photosensitive
Death in infancy, Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, ... OMIM:601675
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal testis morphology, Abnormal hair morphology, Erythema, Patchy palmo... ORPHA:317
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Schimke Immuno-Osseous Dysplasia
Proteinuria, Autoimmunity, Impaired T cell function, Minimal change glomerulonephritis, Abnormal ... ORPHA:1830
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Increased circulating IgE level, Nail dystrophy, Palmoplantar hyperhidros... OMIM:270300
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr... OMIM:614455
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Conjugated hyperbilirubine... OMIM:208085
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... ORPHA:87503
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Purpura ORPHA:375
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Hypospadias, Bilateral cryptorchidism, Erythroderma, Ichthyosis, Micropenis OMIM:618840
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Elevated circulating creatine kina... OMIM:614576
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis ORPHA:69125
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... ORPHA:139402
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Pruritus, Antinuclear antibod... ORPHA:186
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Autoimmune thrombocytopenia, Increased circulating IgA level, Incr... ORPHA:169154
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Recurrent urinary tract infections, Perianal abscess, Cryptorchidi... OMIM:612541
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula... OMIM:619428
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrit... OMIM:161950
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Hepatomegaly, Dysgammaglobulinemia, Impaired Ig class switch rec... OMIM:308230
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Erythro... OMIM:113800
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophic scars, Dystrophic toenail ORPHA:89838
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Panniculitis, Eczema, Dry skin ORPHA:508542
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alo... OMIM:608649
Pediatric Systemic Lupus Erythematosus
Dark urine, Myositis, Antiphospholipid antibody positivity, Skin rash, Alopecia, Renal insufficie... ORPHA:93552
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma OMIM:615022
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep... OMIM:137940
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma ORPHA:79394
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... ORPHA:33110
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Cryoglobulinemic Vasculitis
Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Hepatomegaly, Splenomegaly, Sk... ORPHA:91138
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Dent Disease 2
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:300555
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Absent eyelashes, Hyperkeratosis, Sparse hair, N... OMIM:618625
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Lichen Planopilaris
Alopecia, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis ORPHA:525
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Skin ulcer, Arth... ORPHA:231
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Skin ulcer,... ORPHA:229717
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Increased circulating IgE level, Perioral erythema, Erythroderma, Ble... OMIM:614328
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p... OMIM:616576
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Lipodystrophy OMIM:305800
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria OMIM:189800
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati... ORPHA:79303
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Cednik Syndrome
Proteinuria, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, Hypogonadism, Ichthyosis ORPHA:66631
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... OMIM:212360
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... ORPHA:505
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... ORPHA:1855
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Phenylketonuria
Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Elevated urinary phenylp... OMIM:261600
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Alopecia, Autoimmunity, Hypergonadotrop... ORPHA:227990
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, N... OMIM:618999
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Pyoderma ... OMIM:604416
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Abnorma... ORPHA:848
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scarring, Antinuclear antibody positivity, Auto... ORPHA:90283
Systemic Lupus Erythematosus
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody positivi... ORPHA:536
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Pruritus, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, Nail dystrophy ORPHA:89843
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt... OMIM:617575
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Galactosemia I
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:230400
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Alopecia, Autoimmunity, Hypergonadotrop... ORPHA:227982
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Palmoplantar hyperkeratosis, Hypohidrosis, Enamel hypoplasia, Sparse lateral eyebrow ORPHA:363523
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:615023
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated circulating C-reactive... ORPHA:79099
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy OMIM:131850
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... ORPHA:549
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Avian Influenza
Elevated hepatic transaminase, Miscarriage, Pneumonia, Elevated circulating creatine kinase conce... ORPHA:454836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... OMIM:615895
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem... ORPHA:369
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Scarring, Keratitis, Erythema, P... ORPHA:330058
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Autoimmunity, Portal hypertension, Hypersplenism, Anti-thyroi... ORPHA:228426
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Heme Oxygenase 1 Deficiency
Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circulatin... OMIM:614034
Immunodeficiency 50
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... OMIM:619510
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Coarse hair, Hypoalbuminemia, Macrovesicul... OMIM:617303
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Eczema, Cryptorchidism, Ichthyosis, Aplasia/Hypoplasia of the testes, Hernia... ORPHA:3055
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... OMIM:603909
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom... ORPHA:381
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Pemphigus Erythematosus
Autoimmunity, Acantholysis, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody... ORPHA:79480
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E... ORPHA:171
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc... OMIM:238970
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Chronic active ... OMIM:203800
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Increased cir... ORPHA:48104
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Death in infancy, Eczema, Elevated circulating creatine kinase concentration, I... OMIM:272300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Jaundice, Hepatitis, He... OMIM:194380
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Skin rash, Autoimmunity, Protein... ORPHA:36412
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Skin rash, Maculopapular exanthema, S... ORPHA:398124
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma ORPHA:457
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory a... ORPHA:816
Proteasome-Associated Autoinflammatory Syndrome 2
Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Elevated circulating C-reactive ... OMIM:618048
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Death in infancy, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity... OMIM:243150
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Autoimmunity, Hypocalcemic tetany, Atyp... ORPHA:83471
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... OMIM:245900
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt... ORPHA:90036
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Miscarriage, Abnormality of the kidney, Antinuclear antibody positivity, Systemic l... OMIM:609939
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Reticular Dysgenesis
Chronic otitis media, Skin rash, Skin ulcer, Decreased circulating antibody level ORPHA:33355
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental... ORPHA:251004
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... OMIM:209920
Insulin-Resistance Syndrome Type B
Alopecia, Abnormal circulating lipid concentration, Skin rash, Autoimmunity, Pneumonia, Increased... ORPHA:2298
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Abnormal hair morpholog... ORPHA:346
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Myasthenia Gravis
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... ORPHA:589
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Absence o... ORPHA:90160
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Pruritus, Thickened skin, Abnormality of the spleen, Abnormality of the liver, Scal... ORPHA:79456
Atypical Hemolytic Uremic Syndrome
Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria ORPHA:2134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic muc... ORPHA:98813
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc... OMIM:619487
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis, Thickened skin, Hyperhidrosis, Hypoalbuminemia OMIM:614441
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Atrophoderma Vermiculata
Pruritus, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Abnormality of the kidney, Bili... ORPHA:289390
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Miscarriage, Abnormality of the kidney, Anticardiolipin IgG... ORPHA:464343
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Decreased serum iron, Chronic hepatitis, Colitis, Uncombable hair, Ci... OMIM:614602
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... ORPHA:293173
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Anuria, Protein... ORPHA:340
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... OMIM:610199
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614921
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... ORPHA:2364
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Decreased seru... ORPHA:54057
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Low a... ORPHA:742
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertri... OMIM:612379
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... ORPHA:2199
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... OMIM:253260
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda... OMIM:613385
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Autoimmunity, Acantholysis ORPHA:704
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti... ORPHA:90060
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Rhinitis, Hypoalbuminemia,... ORPHA:507
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Autoimmune hemolytic ... ORPHA:391487
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Increa... OMIM:618282
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Conge... OMIM:302960
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia... OMIM:210210
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymp... OMIM:618495
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchie... OMIM:240500
Bazex Syndrome
Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na... ORPHA:166113
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... ORPHA:2035
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis, Elevated circulating creatine kinase concentration, He... ORPHA:300179
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Sparse eye... OMIM:604173
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conc... OMIM:614204
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Hepatic fibrosis, Sparse hair, Hepatomegaly, Alopecia, Portal hypertension, Sparse... OMIM:607626
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positive, Elevated c... OMIM:615934
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Increased circulating ... ORPHA:1163
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Seborrheic dermatitis, Renal cyst, Uveitis, Sec... ORPHA:488618
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Scaling skin, Death in childhood, Neonatal death, Dystrophic f... OMIM:308205
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... OMIM:227810
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... OMIM:308800
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis,... ORPHA:79395
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased cir... OMIM:610768
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Thickened skin, Splenomegaly, Erythroderma, Hypoproteinemia OMIM:603554
Porphyria Cutanea Tarda, Type I
Porphyrinuria, Hepatic fibrosis, Eczema, Hypertrichosis OMIM:176090
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Glomerulopathy, Re... ORPHA:183
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Autoimmunity,... ORPHA:542643
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Ag... OMIM:300400
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure,... ORPHA:292
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Skin ulcer, Atrophic scars, Abnormality of neutro... ORPHA:542592
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology ORPHA:222
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Recurrent skin infections, Parti... OMIM:301082
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia, Scarring OMIM:247100
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Hyp... ORPHA:281090
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Dowling-Degos Disease
Penile freckling, Pruritus, Arthritis, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne ... ORPHA:79145
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Death in infancy, Pericarditis, Premature ovarian insufficiency, P... OMIM:212065
Genetic Recurrent Myoglobinuria
Dark urine, Elevated hepatic transaminase, Myositis, Renal insufficiency, Recurrent myoglobinuria... ORPHA:99845
Late-Onset Isolated Acth Deficiency
Hyponatremia, Premature ovarian insufficiency, Hypercalcemia, Autoimmunity, Hyperkalemia, Hepatit... ORPHA:199299
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Subcorneal Pustular Dermatosis
Autoimmunity, Pruritus, Pustule, Erythema, Systemic lupus erythematosus, Increased circulating an... ORPHA:48377
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Miscarriage, Jaundice, Hepatitis, Uveitis, Hematuria, I... ORPHA:319251
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... ORPHA:263455
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Gou... OMIM:232800
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Hepatomeg... ORPHA:77297
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, E... ORPHA:767
Recessive X-Linked Ichthyosis
Cryptorchidism, Hypohidrosis, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... OMIM:602400
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduce... OMIM:308240
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Menorrhagia, Nephropathy, Nephritis ORPHA:182050
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevate... OMIM:620300
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Irregular menstruation, Hepatitis, Decreased ... ORPHA:562
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Hypergo... OMIM:607426
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... OMIM:616295
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Alopecia, Premature ovarian insufficiency, Female h... OMIM:240300
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... OMIM:615207
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P... ORPHA:436159
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Pericarditis, Alopecia, Renal insufficiency, Chondritis of pinna, P... ORPHA:728
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Elevated circu... ORPHA:900
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Proteus Syndrome
Lipoma, Multiple lipomas, Hyperkeratosis, Splenomegaly OMIM:176920
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Death in infancy, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tu... OMIM:616901
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Autoimmunity, Alopecia, Elevated circulating creat... ORPHA:93672
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha... ORPHA:94059
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Hypogonadism ORPHA:2574
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Increased circulating IgE l... ORPHA:2314
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hypohidrosis, Aplasia/Hypoplasia of... ORPHA:238468
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, ... ORPHA:436252
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... OMIM:618549
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullou... OMIM:614457
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Foot joint contracture, Recurrent skin infections, Glome... ORPHA:79408
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa... OMIM:615704
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Renal insufficiency, Portal hypertension, Flexion contracture, Hepatitis, Choles... ORPHA:440713
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Elevated circulating C-reactive protein concentrat... ORPHA:449400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity... ORPHA:331206
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... OMIM:268200
Pseudo-Torch Syndrome 3
Death in infancy, Proteinuria, Lymphadenitis, Increased circulating ferritin concentration, Acute... OMIM:618886
Copper Deficiency, Familial Benign
Curly hair, Decreased circulating copper concentration, Early balding, Seborrheic dermatitis OMIM:121270
Bullous Impetigo
Recurrent bacterial skin infections, Glomerulopathy, Pustule, Erythema, Septic arthritis ORPHA:36237
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... OMIM:610965
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Abnormality of the menstru... ORPHA:556
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea... ORPHA:85414
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis, Thickened skin, Hyperhidrosis, Elevated urinary prostaglandin E2 level OMIM:167100
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... OMIM:616100
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... OMIM:300755
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Cryptorchidism, Follicular hyperkeratosis, Dry skin, Mildly elevated... ORPHA:486815
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Hepatomegaly, Elevated circul... OMIM:201475
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula... ORPHA:2890
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple... OMIM:603552
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Autoimmunity, Flexion contracture, Oliguria, Skin ulcer, Arthritis ORPHA:220393
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Death in infancy, Hepatic cysts, Erythroderma OMIM:617425
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Recurrent skin infections, Eczema, Recurrent u... OMIM:619802
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Increased circulating lactate dehydrogenase concentration, Autoimmunity, Eczema, Recurrent pneumo... OMIM:617780
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Lipoid Proteinosis
Acne, Scarring, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Skin rash, Autoimmunity, Pruritus, Abnormality of the pancreas, Pr... ORPHA:69665
Werner Syndrome
Sparse scalp hair, Renal neoplasm, Lipoatrophy, Lipodystrophy, Miscarriage, Abnormal hair whorl, ... ORPHA:902
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... OMIM:307200
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... OMIM:617744
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hyperhidrosi... ORPHA:90068
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Recurrent pneumonia, Increased circulating IgE level, Erythema, Chronic mucocutaneous ... OMIM:147060
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronc... OMIM:301220
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Arth... OMIM:259100
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Splenomegaly, Skin ulcer, Nephrotic syndrome ORPHA:834
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... ORPHA:171851
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
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