Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MAP/microtubule affinity regulating kinase 2
Synonyms:
Emk,  Par-1

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 Mark2 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 Mark2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
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
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Lip... OMIM:619858
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Failure to thrive, Complete or near-complete absence of speci... OMIM:607271
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Isolated Growth Hormone Deficiency, Type Ib
Micropenis, Short stature, Decreased response to growth hormone stimulation test, Reduced circula... OMIM:612781
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... OMIM:608709
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... OMIM:300400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Decreased response t... ORPHA:157954
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... ORPHA:424019
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G... OMIM:613496
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:98813
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp... OMIM:620210
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Bloom Syndrome
Bronchitis, Adipose tissue loss, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, ... ORPHA:125
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Short stature, De... ORPHA:90695
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... OMIM:619824
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron defici... ORPHA:37042
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Thrombocy... OMIM:304790
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:66628
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Malabsorption, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Hematochezia, Decreased body weight, Stercoral ulcer ORPHA:209964
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Desmoid Disease, Hereditary
Colorectal polyposis, Colon cancer, Desmoid tumors OMIM:135290
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... OMIM:173100
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:179494
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Premature ovarian insufficiency, Increased circulating gonadotropin ... ORPHA:243
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Short sta... ORPHA:314811
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Elevated circulating C-reactive protein concentration, Hepatomegaly, Neutr... OMIM:619644
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... ORPHA:329918
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ... ORPHA:3261
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... OMIM:611881
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... ORPHA:2410
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin... ORPHA:2298
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to g... OMIM:275400
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... ORPHA:398069
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... OMIM:618987
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased circulating IgG2 lev... OMIM:615897
Joubert Syndrome 26
Short stature, Decreased response to growth hormone stimulation test, Recurrent upper respiratory... OMIM:616784
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Hemoglobinuria, Vomiting, Acute... ORPHA:90038
Pituitary Dwarfism With Large Sella Turcica
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... OMIM:262710
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism, Short stature ORPHA:631
Endocardial Fibroelastosis
Hypoplasia of penis, Cryptorchidism, Endocardial fibroelastosis, Restrictive cardiomyopathy, Ante... ORPHA:2022
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Intrauterine growth retardation, Nephrotic ra... ORPHA:1830
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Crypt... OMIM:615849
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... ORPHA:280365
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... OMIM:603909
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... OMIM:102700
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio... ORPHA:79237
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Ovarian Dysgenesis 4
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... OMIM:616185
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Short stature, Decreased response to growth hormone stimulation test, Panhypopitu... OMIM:300123
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... OMIM:618459
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... ORPHA:171706
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia, 3-Methylglutaconic aciduria ORPHA:67046
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... ORPHA:369
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:331206
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Short stature, Decreased response to growth ho... OMIM:614963
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Villous atrophy, Failure to th... OMIM:619510
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... OMIM:613913
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... ORPHA:859
Leprechaunism
Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypogly... ORPHA:508
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, A... OMIM:606528
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... OMIM:618078
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, High pala... ORPHA:443811
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... ORPHA:432
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Anorexia, Knee ... ORPHA:1304
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... ORPHA:400
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Helicobacter pylori infection, Small fo... ORPHA:275555
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Panhypopituitarism, X-Linked
Pituitary dwarfism, Panhypopituitarism OMIM:312000
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lipoatrophy, Insulin resistance, Decreased circulating complement C3... ORPHA:79087
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Asthma, Atopic dermatitis, Hepatosp... OMIM:618999
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody... OMIM:614069
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased respons... ORPHA:95494
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
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
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... OMIM:209950
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Hypoalbuminemia, Protein-losi... OMIM:235510
Lowe-Kohn-Cohen Syndrome
Nephropathy, Anorectal anomaly, Anal atresia ORPHA:2408
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Pituitary dwarfism, Ectopic posterior pituitary, Hyp... ORPHA:226307
Alg12-Cdg
Recurrent hypoglycemia, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Micropenis... ORPHA:79324
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... OMIM:617638
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hy... ORPHA:447
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... ORPHA:163971
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... ORPHA:264580
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... OMIM:262400
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short stature, Neoplasm of... ORPHA:54595
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Flexion contracture, Renal cyst, Hepatic fibrosis, Hypoalbuminemia, Vomiting, Hy... OMIM:212065
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... ORPHA:99867
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocalcemia, ... ORPHA:90362
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased response to growth hormo... OMIM:615577
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... OMIM:620282
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Mesangial hypercellularity, Abnormal lung morphology, Pa... ORPHA:91139
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ... ORPHA:314802
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, M... OMIM:219700
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, E... OMIM:614034
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Severe short stature, Decreased circulating total IgM, Neutrope... ORPHA:2643
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Apnea, Hypoglycemia, Elevated circulating aspartat... OMIM:619048
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis... ORPHA:69126
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... OMIM:300635
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Short stature, Neutropenia OMIM:610798
Septooptic Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:182230
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... OMIM:619386
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... OMIM:300148
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic st... OMIM:617303
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... OMIM:619752
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, De... OMIM:606367
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... ORPHA:100024
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Short stature, Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulatin... OMIM:615139
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Crackles, Diff... ORPHA:99931
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Recurrent respiratory in... OMIM:615816
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Morgagni diaphragmatic hernia, Rectal prolapse, Hypoplasia of the thymus, Gas... OMIM:613177
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Short stature, Elevated circulating aspartate aminotransferase concent... OMIM:620010
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Acute otitis media, T lymphocytopenia, Decreased circulating IgG level, A... ORPHA:35078
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:254516
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... ORPHA:85450
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Ataxia-Telangiectasia
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive, Diabetes mell... ORPHA:100
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Celiac disease, ... OMIM:615952
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... OMIM:210900
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... ORPHA:3157
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Intrauterine growth retardation, Decreased cir... OMIM:620005
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Eth... ORPHA:26792
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... ORPHA:33355
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concen... OMIM:618048
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... OMIM:617575
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis OMIM:216950
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevat... OMIM:614376
Cog2-Cdg
Small pituitary gland ORPHA:435934
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Anorexia, Dia... ORPHA:169160
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Respiratory distress, Small for gestational age, Hypospadias, Hy... OMIM:607143
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... ORPHA:263455
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 22
Decreased circulating IgG level, Pericarditis, Abscess, Diarrhea, Recurrent upper respiratory tra... OMIM:615758
Bonnemann-Meinecke-Reich Syndrome
Short stature, Decreased response to growth hormone stimulation test ORPHA:1261
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevat... OMIM:617872
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Roifman Syndrome
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Short stature, Postnatal gr... ORPHA:353298
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Constipation, Type II diabetes m... ORPHA:225
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Dysmenorrhea, Increased... ORPHA:79240
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... OMIM:240500
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... OMIM:308230
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Fg Syndrome Type 1
Hypospadias, Short stature, Cryptorchidism, Mitral valve prolapse, Small pituitary gland, Atrial ... ORPHA:93932
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Dubowitz Syndrome
Abnormality of neutrophils, Rectal prolapse, High palate, Spina bifida occulta, Hypoparathyroidis... ORPHA:235
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Lupus nephritis, Decreased circulating complem... OMIM:614420
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... OMIM:619476
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Abnormality of the lower urinary tract, Hiatus hernia ORPHA:101009
Legionnaires Disease
Anorexia, Abnormal lung morphology, Cough, Infectious encephalitis, Hyponatremia, Recurrent phary... ORPHA:549
Riddle Syndrome
Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Otitis media, Decreased circulating I... ORPHA:420741
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Short stature, Abnormal repet... OMIM:618347
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th... ORPHA:229717
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... OMIM:613179
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... ORPHA:424016
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, I... ORPHA:90363
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux OMIM:619793
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Hamartomatous polyposis, Int... OMIM:175200
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U... ORPHA:48435
Mirage Syndrome
Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Acha... OMIM:617053
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Malabsorption, Nephrogenic ... ORPHA:213
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... ORPHA:340
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... ORPHA:2126
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoriasif... ORPHA:221139
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental... ORPHA:251004
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Ethanolaminosis
Cardiomegaly OMIM:227150
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Abnormal repe... OMIM:610883
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma... OMIM:242900
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... OMIM:245400
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Chronic kidney dis... ORPHA:261222
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, 3-Methylglutaconic aciduria, Decreased liver function, Failure to thrive, Thrombocy... ORPHA:67048
Short Stature-Wormian Bones-Dextrocardia Syndrome
Short stature, Dextrocardia, Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism ORPHA:2863
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Proteinuria, Acne, Cachexia, ... ORPHA:77297
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Hypocalcemia, Failure to t... ORPHA:163693
Kennedy Disease
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Decreased circulating complement factor I concentration OMIM:613652
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Short stature, Primary amenorrhea OMIM:233400
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomeg... ORPHA:100025
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly,... ORPHA:77259
X-Linked Agammaglobulinemia
Sinusitis, Abnormal lung morphology, Glossoptosis, Conjunctivitis, Hypocalcemia, Neutropenia, Chr... ORPHA:47
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Dyspnea, Tachy... OMIM:616414
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Short stature, Growth delay, Gastroesophageal reflux, Type I diabetes... ORPHA:251009
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Short stature, Minimal change glomerulonephriti... OMIM:618348
Silver-Russell Syndrome Due To 11P15 Microduplication
Small for gestational age, Short stature, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Seckel Syndrome 7
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra... OMIM:614851
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat... ORPHA:79444
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... OMIM:614732
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal... ORPHA:446
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Nephritis, Lym... ORPHA:93552
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Short stature, Decreased response to growth hormone stimulation t... OMIM:300845
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Short stature, Cryptorchidism, Nephrotic syndrome, Type I diabetes mellitus, Nephrop... ORPHA:1192
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Chronic constipat... OMIM:619428
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Hepa... OMIM:232220
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Recurrent upper respiratory tract infections, Obesit... OMIM:614962
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... OMIM:618495
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Apnea, Hypoglycemi... OMIM:606054
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, T lymphocytopenia, Leukopenia, Neutropenia, Decreased... OMIM:618986
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Respiratory distress, Hypoglycemia, Organic aciduria OMIM:614741
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabe... OMIM:613404
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia, Decreased response t... OMIM:245590
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Small for gestational age, Apnea, Hypoglycemia, Neutropenia, Bronchiectasis, Hyperam... OMIM:618253
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Left ventricular hypertroph... ORPHA:79330
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sho... ORPHA:96180