Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Synonyms:
Ggtb,  Ggtb2,  B-1,4-GalT1,  beta-1,4-GalT1,  GalT,  beta 1,4-Galactosyltransferase I,  b1,4-Galactosyltransferase I

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 B4galt1 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.

The table below shows human diseases associated to B4galt1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Iid
OMIM:607091
B4Galt1-Cdg
ORPHA:79332

The table below shows human diseases predicted to be associated to B4galt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Hematuria, Depletion of components of the alte... OMIM:609814
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Decreased specific pneumococcal antibody level, Colitis, Nephro... OMIM:617006
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Decreased serum complement C4, Synovitis, Abnormal glomerular mes... ORPHA:567544
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Decreased serum complement C3, Nep... OMIM:613779
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased serum compleme... OMIM:613913
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
C1Q Deficiency
Membranoproliferative glomerulonephritis, Decreased serum complement factor I OMIM:613652
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Decreased serum complement factor B, Decreased serum complement f... ORPHA:2134
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased serum compleme... OMIM:608709
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
C3 Glomerulopathy
Hematuria, Acute kidney injury, Decreased serum complement C4, Membranoproliferative glomerulonep... ORPHA:329918
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Complement Component 4A Deficiency
Glomerulonephritis, Complement deficiency OMIM:614380
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Uveitis, Circulating immune complexes, Glomerulonephritis, ... OMIM:607665
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... ORPHA:567548
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Nondisjunction
Decreased fertility OMIM:158250
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Hydroxyprolinemia
Microscopic hematuria OMIM:237000
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Acquired Partial Lipodystrophy
Microscopic hematuria, Decreased serum complement C3, Proteinuria, Glomerulopathy ORPHA:79087
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Nephrotic syndrome, Proteinuria OMIM:105200
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:617575
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Thin skin, Menometrorrhagia, Macronodular adrenal hyperplasia, Generalized hirsutism, Diabetes me... ORPHA:189427
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Methylmalonic aciduria, Decreased circ... ORPHA:859
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Complement Factor I Deficiency
Pyelonephritis, Decreased serum complement factor B, Decreased serum complement factor H, Recurre... OMIM:610984
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Ichthyosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis m... OMIM:618495
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Gout, Renal cyst, Chronic kidney disease OMIM:617056
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Cryoglobulinemia, Chronic kidney disease, Proteinuria OMIM:123550
Oliver-Mcfarlane Syndrome
Cryptorchidism, Sparse hair, Long eyelashes, Severe short stature, Delayed puberty, Alopecia, Hyp... OMIM:275400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Hirsutism, Dehydration... ORPHA:90791
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Nephroblastoma, Stage 5 chronic kidney disease, ... OMIM:194080
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C3, Increased circulating antibody level, Decreased serum complement C... OMIM:615559
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Abnormality of t... ORPHA:100025
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Primary Pigmented Nodular Adrenocortical Disease
Thin skin, Striae distensae, Diabetes mellitus, Short stature, Hypogonadism, Adrenal hyperplasia,... ORPHA:189439
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Short stature, Hypoplasia of penis, Sparse body hair, Hypogonadism, Micropenis ORPHA:85274
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE level, Erythroder... OMIM:610163
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Acute kidney injury, Pericarditis, Interstitial pneu... ORPHA:449395
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Reduced isohemagglutinin level, Decreased circulating total I... OMIM:614699
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Complement deficiency, Ma... ORPHA:567546
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Sparse hair, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, Cafe... OMIM:618625
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Intrauterine growth retardation, Short stature, Sparse body hair, D... ORPHA:261483
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria OMIM:120433
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis OMIM:616414
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Glomerular sclerosis, Dec... ORPHA:93126
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria ORPHA:510
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormality of the tonsils, Abnormal lymphocyte morphology... ORPHA:229717
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy,... ORPHA:824
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgG2 level, Pneumonia, Absent specific ant... OMIM:102700
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Cellulitis, Thin skin, Xanthomatosis, Lipoatrophy, Lipodystrophy, Polycy... ORPHA:2348
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Sparse axillary hair, Primary amenorrhea, Sparse pubic hair, Hypogon... OMIM:146110
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Adrenal Hypoplasia, Congenital
Cryptorchidism, Adrenal hypoplasia, Azoospermia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Cushing Disease
Infertility, Thin skin, Lipodystrophy, Menorrhagia, Metrorrhagia, Diabetes mellitus, Generalized ... ORPHA:96253
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephrolithiasis, Nephropathy ORPHA:2196
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Bulbous nose, Oligohydramnios, Thin skin, Lipoatrophy, Skin dimple, Wide nasal bridg... ORPHA:261304
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Oligomenorrhea, Thin skin, Xanthomatosis, Lipoatrophy, Insulin-resistant diabe... ORPHA:79083
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Classic Mycosis Fungoides
Skin rash, Hyperkeratosis, Abnormal lymphocyte morphology, Erythema, Lymphadenopathy, Hepatomegal... ORPHA:2584
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Thin skin, Atypical scarring of skin, Atrophic scars, Growth delay, Flexion contr... ORPHA:75496
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Abnormality of the lymph nodes, Hepatomegaly, Petechi... OMIM:612840
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Elevated hepatic iron concentration, Cirrhosis, Extramedul... ORPHA:231222
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy, Gout, Increased urinary ura... ORPHA:79233
Lcat Deficiency
Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Bronchiectasis, Increased circul... OMIM:618534
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Bladder Diverticulum
Dysuria, Urethral sphincter sclerosis, Hematuria, Urinary hesitancy, Recurrent urinary tract infe... OMIM:109820
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Hematuria, Acute kidney injury, Proteinuria ORPHA:54057
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Thin skin, Growth delay, Absent eyebrow, Sparse and thin eyebrow, ... ORPHA:2985
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria ORPHA:284400
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria OMIM:230400
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level, Nephrotic syndrome OMIM:215250
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Nephrotic syndrome, Increased c... OMIM:603909
Necrobiosis Lipoidica
Granuloma, Erythema, Abnormality of neutrophil physiology, Skin ulcer, Inflammatory abnormality o... ORPHA:542592
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Paraproteinemia, Chronic kidney disease, Abnormal renal ... ORPHA:439232
Cryoglobulinemic Vasculitis
Hematuria, Cryoglobulinemia, Viral hepatitis, Circulating immune complexes, Glomerulopathy, Arthr... ORPHA:91138
Chilblain Lupus
Skin rash, Hyperkeratosis, Increased circulating antibody level, Discoid lupus rash, Chronic myel... ORPHA:90280
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hydrocele testis, Abnormality of the nail, Sparse hair, Absent eyelashes, Palpebral edema, Thin s... OMIM:607823
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Aplasia cutis congenita, Sparse hair, Bifid scrotum, Underdeveloped nasal alae, T... ORPHA:217346
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis ORPHA:214
X-Linked Agammaglobulinemia
Skin rash, Neutropenia, Weight loss, Anemia, Sinusitis, Abnormality of the tonsils, Osteomyelitis... ORPHA:47
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Short stature... OMIM:266265
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Autoinflammation, Immune Dysregulation, And Eosinophilia
Colonic eosinophilia, Atopic dermatitis, Membranous nephropathy, Nephrotic syndrome OMIM:618999
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Intrau... ORPHA:99886
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor... ORPHA:251623
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating IgE level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin, Sparse scalp hair, Microcephaly, Prominent nasal bridge, Fragile nails, Depressed nasa... OMIM:617364
Alopecia-Intellectual Disability Syndrome
Hypergonadotropic hypogonadism, Growth delay, Flexion contracture, Sparse scalp hair, Alopecia, A... ORPHA:2850
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Thin skin, Secondary amenorrhea, Increased facial adipose tissue, Incr... ORPHA:280365
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcerative colit... ORPHA:555905
Dermoodontodysplasia
Trichodysplasia, Hypohidrosis, Thin skin, Melanocytic nevus, Fingernail dysplasia, Sparse scalp h... ORPHA:1660
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose, Intrauterine growth retar... OMIM:300869
Moynahan Syndrome
Sparse hair, Short stature, Alopecia, Microcephaly, Hypogonadism ORPHA:2574
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Bilateral breast hyp... ORPHA:52901
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Hypohidrosis, Cirrhosis, Decreased specific anti-polysacchar... OMIM:614576
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Growth Factors, Combined Defect Of
Thin skin, Lipodystrophy, Flexion contracture, Insulin-resistant diabetes mellitus, Dermal atroph... OMIM:233805
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Dehydration, Decreased circulating aldosterone level, Female ext... ORPHA:289548
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Abnormal stomach morphology, Hypohidrosis, Ichthyosis, Hyperkeratosis, Testicular... ORPHA:281090
Immunodeficiency 50
Decreased circulating antibody level, Recurrent urinary tract infections, Eczema OMIM:300988
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Mu-Heavy Chain Disease
Increased circulating antibody level, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Inflammatory Skin And Bowel Disease, Neonatal, 2
Long eyelashes, Recurrent bronchiolitis, Dehydration, Edema, Recurrent pneumonia, Papule OMIM:616069
Mandibuloacral Dysplasia
Increased intraabdominal fat, Sparse hair, Hyperinsulinemia, Reduced intrathoracic adipose tissue... ORPHA:2457
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Dehydration, Decreased circulating aldosterone level, Female ext... ORPHA:168558
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Growth delay, Short stature ORPHA:2812
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Weight loss, Lymphadenopath... ORPHA:507
Xp22.3 Microdeletion Syndrome
Sacral dimple, Polycystic ovaries, Secondary amenorrhea, Aplasia/Hypoplasia of the skin, Short st... ORPHA:1643
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abno... ORPHA:90695
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Hypohidrosis, Small nail, Sparse hair, Underdeveloped nasal ala... OMIM:129400
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Delayed puberty ORPHA:2297
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Growth delay, Uveitis,... OMIM:617388
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ichthyosis, Splenomegaly ORPHA:2274
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617729
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia, Sparse hair, Underdeveloped nasal alae, Postnatal growth ret... OMIM:272440
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Viral hepatitis, Increased circulating anti... ORPHA:2137
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Villous atrophy, Growth delay, Delayed ... OMIM:614162
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Arthritis, Myosit... ORPHA:69126
Pituitary Adenoma 4, Acth-Secreting
Oligomenorrhea, Thin skin, Hirsutism, Increased circulating ACTH level, Edema, Striae distensae, ... OMIM:219090
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Erythroderma, Glomerulonephritis, Hepatitis, Eczema, Arthritis OMIM:304790
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, An... OMIM:616050
Cole Disease
Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma OMIM:615522
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, IgA deposition in the glomerulus OMIM:178610
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Severe Combined Immunodeficiency, X-Linked
Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Pneumonia, Agammaglobulinemia, De... OMIM:300400
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, R... OMIM:248250
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Pear-shaped nose, Sparse hair, Widow's peak, Thick eyebrow, Interphalangeal joint contracture of ... OMIM:606242
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Elevated hepatic transaminase, Dehydration, Intrauterine growth retardation, Micr... OMIM:618958
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis OMIM:131800
Acrogeria
Thin skin, Lipoatrophy, Short stature, Aplasia/Hypoplasia of the skin, Fine hair, Skin ulcer ORPHA:2500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Thyroiditis OMIM:619375
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Abnormal immunoglobu... OMIM:242900
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Failure to thrive, Sple... OMIM:269840
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Hypereosinophi... OMIM:256500
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Sparse hair, Thin skin, Sparse body hair, Abnormal fingernail morphology ORPHA:1810
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Growth delay, Pancytopenia, Thrombocytopenia, Hepatomeg... OMIM:259720
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Crandall Syndrome
Hypoplasia of penis, Abnormal testis morphology, Brittle hair, Alopecia, Aplasia/Hypoplasia of th... ORPHA:202
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Toxic Epidermal Necrolysis
Intestinal perforation, Acantholysis, Gastrointestinal hemorrhage, Dysphagia, Neutropenia, Weight... ORPHA:537
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Neutropenia,... ORPHA:98850
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Short stature, Anemia ORPHA:3319
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Macroscopic hematuria ORPHA:849
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Dehydration, Intrauterine growth retardation OMIM:601410
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis OMIM:615598
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Hypotrichosis 7
Sparse hair, Sparse and thin eyebrow, Comedo, Woolly hair, Sparse eyelashes OMIM:604379
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Hypohidrosis, Cryptorchidism, Abnormal dental enamel morphology, Agenesis of corp... ORPHA:1812
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Thin skin, Primary hyperc... OMIM:219080
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmoplantar hyperhidrosis, Palmoplantar kerato... ORPHA:498359
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Orotic Aciduria
Oroticaciduria, Impaired T cell function, Hematuria, Orotic acid crystalluria OMIM:258900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria ORPHA:1473
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Pulmonary fibrosis, Abnormality of secondary sexual hai... ORPHA:243
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Hypocomplementemic Urticarial Vasculitis
Skin rash, Hematuria, Uveitis, Glomerulopathy, Arthritis, Complement deficiency, Conjunctivitis, ... ORPHA:36412
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized hyperkeratosis, Palmoplantar keratoderma ORPHA:737
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, ... OMIM:608971
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Corpus callosum atrophy, Abnormal sperm head morphology, Abn... ORPHA:320391
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Impaired T cell fun... ORPHA:1830
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Ambiguous genitalia, Infertility, Increased circulating cortiso... ORPHA:786
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin, Microcephaly, Disproportionate short-limb short stature, Stillbirth OMIM:259410
Ciliary Dyskinesia, Primary, 41
Infertility, Recurrent sinusitis, Immotile sperm, Bronchiectasis OMIM:618449
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Short statur... ORPHA:2183
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Increased circulating IgE le... ORPHA:217390
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Microcytic anemia, Hyperkeratosis, Cutis laxa, Polymicrogyria, Eczema OMIM:612379
Neonatal Lupus Erythematosus
Skin rash, Parakeratosis, Hemolytic anemia, Hyperkeratosis, Neutropenia, Maculopapular exanthema,... ORPHA:398124
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Short stature, Postnatal growth retardation OMIM:616113
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 55
Ichthyosis, Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retarda... OMIM:617827
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Drug-Induced Lupus Erythematosus
Hematuria, Pericarditis, Decreased serum complement C4, Malar rash, Decreased serum complement C3... ORPHA:231111
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Pancytopenia, Thromboc... OMIM:259710
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Pyoderma gangre... OMIM:604416
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Decreased serum complement C4, Dark urine, Abnormality of the urinary syste... ORPHA:93552
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Reduced sperm motility, Short stature, Recurrent pneumonia OMIM:602271
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Aplasia cutis congenita, Sparse hair, Absent eyelashes, Bulbous nose, Spot... ORPHA:79133
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Dermoodontodysplasia
Trichodysplasia, Thin skin, Nail dysplasia OMIM:125640
Stevens-Johnson Syndrome
Acantholysis, Gastrointestinal hemorrhage, Abnormality of neutrophils, Dysphagia, Weight loss, Es... ORPHA:36426
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Abnormality of sec... ORPHA:95619
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin, Scarring, Severe short stature, Inguinal hernia, Abnormality of subcutaneous fat tissu... ORPHA:1899
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Shagreen patch, Abnormal eyebrow morphology, Delayed puberty, Short stature, Hypoplasia of penis,... ORPHA:1816
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria OMIM:134610
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Growth delay, Hypogonadism, Hepatomegaly, Anemia, Splenomegaly, Decreas... OMIM:615234
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Abnormality of the gastrointest... ORPHA:2070
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis OMIM:615028
Functioning Gonadotropic Adenoma
Abnormality of secondary sexual hair, Pituitary hypothyroidism, Delayed puberty, Decreased female... ORPHA:91348
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased... ORPHA:169154
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Scrotal hypoplasia, Decreased fertility, Abnormality of the thyroid gland, Type II diabetes melli... ORPHA:2234
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:225
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Irregular menstruation, Absent eyebrow, Nail dysplasia, Sparse... ORPHA:1809
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Increased circulating IgM level, Focal segmental glomerulosclerosis, Enlarge... OMIM:617303
Basan Syndrome
Hyperkeratosis OMIM:129200
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormality of secondary sexual hair, Pituitary hypothyroidism, Anterior pituitary hypoplasia, De... ORPHA:95494
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Al Amyloidosis
Albuminuria, Increased circulating antibody level, Nephrotic syndrome, Renal insufficiency, Abnor... ORPHA:85443
Ataxia-Telangiectasia
Hypopigmentation of hair, Elevated hepatic transaminase, Premature graying of hair, Abnormal test... ORPHA:100
Multiple Myeloma
Acute kidney injury, Decreased circulating antibody level, Nephropathy, Abnormality of the bladde... ORPHA:29073
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency, Common Variable, 1
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Impaired T cell function,... OMIM:607594
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Lymphadenitis, Renal angiomyolipoma, Elevated uri... OMIM:260920
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Cerebral atrophy, Ins... OMIM:268020
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Delayed puberty, Aplasia of the ovary, Hypergonadotropic hypogonadism, Sparse fac... ORPHA:2232
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Scaling skin, Failure to thri... OMIM:606367
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Failure to thrive, H... OMIM:618963
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Sparse axillary hair, Delayed puberty, Female external genitalia in individual wi... ORPHA:90796
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Hepatomegaly, Splen... ORPHA:98848
Lessel-Kubisch Syndrome
Premature graying of hair, Sparse pubic hair, Short stature, Hypogonadism, Narrow nasal bridge OMIM:618681
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Patent ductus arteriosus, Protein-losing enteropathy, Thrombocyto... OMIM:608104
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Recurrent b... OMIM:214500
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Nail pits, Thin skin, Choanal atresia, Sparse axillary hair, Xerostomia, Rectovag... OMIM:129900
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Hypothyroidism, Alopecia, Broad nasal tip, Short stature, Anteverted nares OMIM:617763
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... ORPHA:99429
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Ichthyosis, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Rhabdoid Tumor
Renal neoplasm, Hematuria ORPHA:69077
Erythrokeratodermia Variabilis
Skin rash, Patchy palmoplantar hyperkeratosis, Abnormal testis morphology, Hyperkeratosis, Weight... ORPHA:317
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Allergic rhinitis, Bronchiectas... OMIM:615816
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Bazex Syndrome
Palmoplantar keratoderma, Acanthosis nigricans, Hyperkeratosis, Scaling skin, Anemia, Parakeratosis ORPHA:166113
Adult Syndrome
Nail pits, Abnormality of the nail, Absent nipple, Breast hypoplasia, Thin skin, Melanocytic nevu... ORPHA:978
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Short nose, Thin skin, Camptodactyly, Short stature, Congenital diaphragmatic her... OMIM:617602
Acquired Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infections, Dry skin ORPHA:454
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sc... OMIM:251300
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Inguinal hernia, Intrauterine growth retardatio... ORPHA:96181
Non-Functioning Paraganglioma
Elevated urinary norepinephrine, Elevated urinary dopamine, Hematuria, Elevated urinary epinephrine ORPHA:94080
Lymphatic Filariasis
Epididymitis, Urethral obstruction, Hematuria, Lymphadenitis, Orchitis, Circulating immune comple... ORPHA:2035
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Thrombocytopenia, Crusting erythematou... OMIM:170100
Popov-Chang syndrome
Hyperkeratosis, Decreased circulating antibody level, Lymphopenia, Gastroesophageal reflux, Recur... OMIM:618428
Netherton Syndrome
Abnormal hair morphology, Emphysema, Recurrent respiratory infections, Sparse scalp hair, Dehydra... ORPHA:634
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Atypical Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Thin skin, Decreased fertility, Delayed puberty, Sec... ORPHA:79474
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Sparse hair, Chordee, Thin skin, Choanal atresia, Inguinal hernia, Short stature,... OMIM:151050
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis ORPHA:89838
Nephroblastoma
Nephroblastoma, Hematuria ORPHA:654
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Blind vagina, Labial hypoplasia, Sparse axillary ... OMIM:300068
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Absent toenail, Hypoplastic toenails, Aplasia cutis congenita, Absent fingernail, Absent thumbnai... ORPHA:79499
X-Linked Ehlers-Danlos Syndrome
Thin skin, Umbilical hernia, Inguinal hernia, Hernia, Short stature ORPHA:75497
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatitis, Decreased glomerular filtrat... OMIM:232240
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Bronchiectasi... OMIM:300853
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Delayed puberty, Secon... ORPHA:432
Noonan Syndrome 6
Polyhydramnios, Cryptorchidism, Sparse hair, Webbed neck, Curly hair, Growth delay, Wide nasal br... OMIM:613224
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hirsutism, Primary hypercortisolism, Dorsocervical fat pad,... OMIM:615830
Psoriasis 14, Pustular
Pustule, Geographic tongue, Leukocytosis, Erythema, Furrowed tongue, Cholangitis, Oligoarthritis,... OMIM:614204
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Hypohidrosis, Camptodactyly of finger, Milia ORPHA:1658
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegal... OMIM:603552
Systemic Sclerosis
Osteomyelitis, Acute kidney injury, Albuminuria, Pericarditis, Glomerulonephritis, Arthritis, Chr... ORPHA:90291
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Bulbous nose, Abnormal response to hu... ORPHA:95699
Short Syndrome
Underdeveloped nasal alae, Thin skin, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mell... OMIM:269880
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Johnson Neuroectodermal Syndrome
Hypohidrosis, Sparse hair, Absent eyelashes, Bulbous nose, Choanal atresia, Absent eyebrow, Sever... ORPHA:2316
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck,... OMIM:612350
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydration, Pseudohypoaldosteronism, R... OMIM:264350
Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Abnormality of the nail, Generalized hypopigmentation of hair, Abnormal hair quanti... ORPHA:238468
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Microscopic Polyangiitis
Peritonitis, Skin rash, Hematuria, Pericarditis, Increased inflammatory response, Uveitis, Glomer... ORPHA:727
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Weight loss, Normocy... ORPHA:98849
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... OMIM:240500
Johnson Neuroectodermal Syndrome
Hypohidrosis, Absent eyelashes, Sparse hair, Growth delay, Microcephaly, Absent eyebrow, Alopecia... OMIM:147770
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin, Adrenal hypoplasia ORPHA:230839
Glucose-Galactose Malabsorption
Renal insufficiency, Hematuria, Nephrolithiasis ORPHA:35710
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Sparse axillary hair, Abnormal internal genitalia, Delayed puberty, Female extern... ORPHA:251510
Glass Syndrome
Sparse hair, Bulbous nose, Thin skin, Camptodactyly, Nail dysplasia, Inguinal hernia, Short statu... OMIM:612313
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Microcephaly, Sparse hair, Alopecia OMIM:203600
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Gout, ... OMIM:232200
Silver-Russell Syndrome 2
Thin skin, Hyperhidrosis, Short stature, Intrauterine growth retardation OMIM:618905
Fetal Hemoglobin Quantitative Trait Locus 1