Gene Summary

Name:
proprotein convertase subtilisin/kexin type 1
Synonyms:
SPC3,  prohormone convertase 1/3,  PC3,  Phpp-1,  Nec1,  PC1,  Nec-1

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina vasculature morphology Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 6.00×10-05
abnormal retina blood vessel morphology Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 6.05×10-05
decreased locomotor activity Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 8.17×10-18
abnormal vitreous body morphology Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 5.31×10-07
abnormal freezing behavior Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 5.39×10-05
preweaning lethality, incomplete penetrance Pcsk1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
persistence of hyaloid vascular system Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 1.58×10-07

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Pcsk1 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 Pcsk1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Pituitary hypothyroidism, Hyperinsulinemia, Obesity, Central adrenal ins... ORPHA:71528
Proprotein Convertase 1/3 Deficiency
Obesity, Diarrhea, Reactive hypoglycemia OMIM:600955

The table below shows human diseases predicted to be associated to Pcsk1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Leptin Deficiency Or Dysfunction
Primary amenorrhea, Micropenis, Obesity, Polyphagia, Decreased serum leptin, Abnormal eating beha... OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Pituitary hypothyroidism, Hyperinsulinemia, Obesity, Central adrenal ins... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Pituitary hypothyroidism, Hyperinsulinemia, Obesity, Central adrenal ins... ORPHA:71526
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Prader-Willi syndrome (Type 1)
Feeding difficulties in infancy, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Feeding difficulties in infancy, Truncal obesity DECIPHER:53
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Macrosomia Adiposa Congenita
Large for gestational age, Polyphagia, Obesity, Adrenocortical adenoma OMIM:248100
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Caspase 8 Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Pneumonia, Decreased CD4:CD8 ra... OMIM:607271
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Hypoglycemia, Hyperinsulinemia, Failure to thrive, Diarrhea, Vom... OMIM:606528
Lactose Intolerance, Adult Type
Abdominal pain, Flatulence, Diarrhea OMIM:223100
Diarrhea 6
Abdominal pain, Diarrhea OMIM:614616
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Chronic diarrhea, B lymphocytopeni... OMIM:619164
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Immunodeficiency 19
Failure to thrive, Diarrhea OMIM:615617
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Leptin Receptor Deficiency
Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Abnormal eating behavior, Diabetes mell... OMIM:614963
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased testicular si... ORPHA:66628
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Diarrhea, Vomiting ORPHA:35122
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testost... ORPHA:179494
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Leukocytos... OMIM:619281
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni... OMIM:616740
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Failure to thrive in infancy, Autoimmune hemolytic anemia, Decreased specific ant... OMIM:606367
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Lymphadenopathy, Otitis media, ... OMIM:608971
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Hypothyroidism, Recurrent otitis media, Uveitis, C... OMIM:614700
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased circulating IgM level, Increased circulatin... OMIM:617099
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Obesity, Adrenal hypoplasia, Adrenocorticotropic ... OMIM:609734
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Hypothyroidism, Arthritis, Coombs-positive hemolytic anemia, Autoimmune thro... OMIM:304790
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia ORPHA:177910
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Failure to thrive, Panhypogammaglobulinemia, Eczematoid de... OMIM:269840
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight, Abdominal pain, Decreased serum ... ORPHA:314811
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, Diabetes mellitus, Type II ... ORPHA:181393
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Reduced systolic function, Failure ... OMIM:618805
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Obesity, Hypoplasia of penis, Hypogonadism ORPHA:85274
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Pituita... OMIM:262700
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Severe short stature, Pituitary dwarfism, Decreased response to growth hormone stim... OMIM:262400
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Arthri... ORPHA:47
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Pulmonary insufficienc... ORPHA:277
Adenocarcinoma Of The Esophagus
Feeding difficulties in infancy, Gastroesophageal reflux, Obesity, Nausea and vomiting ORPHA:99976
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Immunodeficiency 36
Splenomegaly, Decreased circulating antibody level, Chronic diarrhea, Bronchiectasis, Chronic lym... OMIM:616005
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Glucose/Galactose Malabsorption
Glycosuria, Chronic diarrhea, Hyperactive bowel sounds, Failure to thrive, Abdominal distention, ... OMIM:606824
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:369873
Bardet-Biedl Syndrome 5
Micropenis, Obesity, Hypogonadism, External genital hypoplasia OMIM:615983
Morbid Obesity And Spermatogenic Failure
Obesity, Insulin resistance, Type II diabetes mellitus OMIM:615703
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Angioedema, Hereditary, 8
Abdominal pain, Episodic vomiting, Diarrhea OMIM:619367
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Trehalase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Stomatitis,... ORPHA:911
Diarrhea 9
Failure to thrive, Diarrhea OMIM:618168
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Aplasia of the thymus, Lymphopenia, Diarrhea, Recurrent pneumonia, R... OMIM:102700
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Diarrhea, Vomiting OMIM:610370
Inflammatory Bowel Disease 11
Hematochezia, Weight loss, Inflammation of the large intestine, Abdominal pain, Diarrhea OMIM:191390
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased circulating IgG level, Hypoproteinemia, Decreased proporti... ORPHA:90362
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... ORPHA:276575
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Diabet... ORPHA:79084
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Pneumonia, Splenomega... ORPHA:39041
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Precocious puberty, Type II diabetes mellitus... ORPHA:254516
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Arthritis, Conjunctivitis, Failure to thrive, Pa... OMIM:601457
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... ORPHA:276556
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Chronic diarrhea, Bronchiectasis, Eczema, Keratitis, Increa... OMIM:618523
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Palpitations, Abdominal pain, Type II diabetes ... OMIM:619290
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Otitis... ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Absent natural killer cells, Chronic diarrh... OMIM:600802
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Hypoglycemia, Leukopenia, Hyponatremia, Achalasia, Dec... OMIM:617053
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Chronic diarrhea, Bronchiectasis, Failure to thrive, Ecz... OMIM:242700
Anal Sphincter Dysplasia
Constipation, Encopresis, Bowel incontinence, Chronic constipation, Diarrhea OMIM:105563
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity, Hernia of the abdominal wall, Hypoplas... ORPHA:3055
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Adiposis Dolorosa
Constipation, Abdominal distention, Obesity OMIM:103200
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Feeding difficulties in infancy, Hypothyroidism, Portal hypertension, Failure to th... OMIM:613385
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Neutropenia, Failure to thrive, Diarrhea OMIM:613501
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Short stature, Decreased serum insulin-like growth factor 1, Delayed ... ORPHA:314802
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Cryptorchidism, Micropenis, Obesity, Arthrogry... OMIM:615547
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Carcinoma Of Esophagus
Gastroesophageal reflux, Obesity, Weight loss, Dysphagia ORPHA:70482
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:617765
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Splenomegaly, Hepatomegaly, Feeding difficulties, Chronic diarrhea, Recurrent in... OMIM:613489
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Recurrent skin infections, Erythema n... OMIM:300635
Cap Polyposis
Hematochezia, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Atrophic gastritis, W... ORPHA:160148
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Arthritis, Increased circulating IgA level, Neut... OMIM:260920
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Recurrent skin infections, Acne inversa, Decreased circulating antibody level, Hepa... OMIM:233600
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Optic disc pallor, Ataxia, Retinal thinning OMIM:618970
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea, Precocious puberty OMIM:604931
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dy... ORPHA:231736
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Premature ovarian insufficiency, Hypogonadism... ORPHA:261483
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Splenomegaly, Hepatomegaly, Chronic diarrhea, Inflammation of the larg... OMIM:614576
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Zollinger-Ellison syndrome, Pituitary prolactin cell a... ORPHA:97279
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Proximal muscle weakness in upper limbs, Lipodystrophy, Polycys... ORPHA:435660
Reticular Dysgenesis
Leukopenia, Weight loss, Decreased circulating antibody level, Abnormality of neutrophils, Anemia... ORPHA:33355
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Obesity, Truncal obesity, Polyphagia OMIM:615986
Proprotein Convertase 1/3 Deficiency
Obesity, Diarrhea, Reactive hypoglycemia OMIM:600955
Summitt Syndrome
Obesity OMIM:272350
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Diarrhea, Vomiting OMIM:614265
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Feeding difficulties in infancy, Anemia, Failure to thrive, Hypoglycemia OMIM:610090
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism, External genital hypoplasia OMIM:615996
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Polycystic ovaries, Loss of gluteal subcutaneous adipose tissue, Loss of subcutane... ORPHA:435651
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Obesity, Diabetes ... OMIM:610628
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Smal... ORPHA:79237
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398079
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Small for gestational age OMIM:613217
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Hypoglycemia, Recurrent otitis media, Chronic hepatiti... OMIM:614921
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity OMIM:616521
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anorexia, I... ORPHA:507
Narcolepsy Type 1
Obesity ORPHA:2073
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... ORPHA:446
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Hemophagocytosis, Increased circu... OMIM:308240
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:98754
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abdominal pain, Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:98793
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Anxiety, Ataxia, Depression, Difficulty walking, Optic atrophy OMIM:619425
Immunodeficiency 47
Exocrine pancreatic insufficiency, Cholestasis, Accessory spleen, Decreased circulating total IgG... OMIM:300972
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Recurrent pneumonia, Hepatosplenomegaly, Decreased... ORPHA:169160
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Feeding difficulties in infancy, Hepatic steatosis, Hypoglycemia, Congestive heart failure, Hepat... OMIM:619048
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Decreased circul... OMIM:601495
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hepatic steatosis, Hypoglycemia, Primary adrenal insufficiency, Hepatic failure, He... OMIM:617872
Microsporidiosis
Nausea, Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis,... ORPHA:2552
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure, Cholestasis, Jaundice, Failure t... OMIM:617156
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Insulin... OMIM:262190
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Failure to thrive, Polyphagia, Facial palsy, Decreased response t... OMIM:606407
Immunodeficiency 56
Recurrent otitis media, Hepatic failure, Recurrent pneumonia, Cholangitis, Chronic diarrhea, Bron... OMIM:615207
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Intrauterine growth retardation, Hyperinsulinemia,... ORPHA:1227
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:177904
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Constrictive pericarditis, Decreased circulating IgG1 level, Dec... ORPHA:90363
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:177901
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Delayed puberty, Hypospadias, Hypogonadism ORPHA:141333
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism, External genital hypoplasia OMIM:615993
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Hyperamylasemia, Anorexia, Hypertrophic c... OMIM:619386
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:158061
Shigellosis
Nausea, Hypoglycemia, Hepatic failure, Uveitis, Cholestasis, Failure to thrive in infancy, Bloody... ORPHA:810
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Enteric Anendocrinosis
Diarrhea, Type I diabetes mellitus, Vomiting ORPHA:83620
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Feeding difficulties in infancy, Hepatic steatosis, Hypoglycemia, Portal hypertension, Hepatic fa... OMIM:251880
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Feeding difficulties in infancy, Diff... OMIM:616050
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Blue Diaper Syndrome
Recurrent hypoglycemia, Diarrhea, Increased proinsulin:insulin ratio, Increased body weight ORPHA:94086
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, A... OMIM:603554
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Obesity, Secondary amenorrhea, Typ... ORPHA:3085
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Rabies
Nausea and vomiting, Anorexia, Diarrhea ORPHA:770
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hepatic failure, Hypoplastic anemia, Macronodula... OMIM:557000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty, Increased hepatic glycogen content, Hypertrophic c... ORPHA:369
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Orthostatic hypotension, Hashimoto thyroiditis, Constipation, Adrenocorticotropin d... ORPHA:199299
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Nausea, Gastrointestinal hemorrhage, Adrenocortical carcino... ORPHA:913
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased fertility, Generalized muscular appearance from birth, ... OMIM:269700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Protracted diarrhea, Autoimmune hemolytic anemia, Decreased proportion of CD4-posit... ORPHA:572
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Gastrointestinal hemorrhage, Maculopapular exanthema, Hepatomegaly, Cervica... OMIM:142680
Propionic Acidemia
Pancytopenia, Feeding difficulties in infancy, Hypoglycemia, Constipation, Cerebellar hemorrhage,... OMIM:606054
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Anemia, Ascites, Thrombocytopenia, Diarrhea, Chronic ... ORPHA:79124
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Increased glucagon level, Abdominal pain, Gluc... ORPHA:438274
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Lipodystrophy, Generalized muscular appearance from birth, Reduce... OMIM:608594
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Decreased body weight, Intermittent diarrhea, Bloody mucoid diarrh... ORPHA:209964
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Thrombocytopenia, Abnormal oral glucos... ORPHA:2298
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Anorexia, Chronic diarrhea, Jaundice, Nausea and vomiting, Abdominal pain, Choles... ORPHA:65682
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Graves Disease, Susceptibility To, 1
Goiter, Graves disease, Polyphagia, Weight loss OMIM:275000
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Papular Xanthoma
Histiocytosis ORPHA:158008
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hepatic steatosis, Polycystic ovaries, Hyperinsulinem... ORPHA:280356
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy, Hepatomegaly OMIM:609016
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Diabetes mellitus OMIM:222100
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Small scrotum, Abnormality of the thyroid gland, Obesity, Hypoplasia of peni... ORPHA:2234
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Neonatal hypoglycemia, Hyperprolinemia, Increased serum pyruvate... OMIM:619046
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis, Chronic activ... OMIM:614379
Central Precocious Puberty
Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, Increased circulating gon... ORPHA:759
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Pelvic mass, Constipation, Recurrent hypoglycemia, Hypophosphatemic ri... ORPHA:2126
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Small for gestational age, Arrhythmia, Hypertrophic cardiomyopathy, Feeding difficu... OMIM:614702
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Congestive heart failure, Recurrent hy... OMIM:212140
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:398073
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398069
Bardet-Biedl Syndrome 4
Cryptorchidism, Obesity, Hypogonadism, External genital hypoplasia OMIM:615982
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Esophagitis, Neuroendoc... ORPHA:276152
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportio... OMIM:300853
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Failure to thrive, Neonatal insulin-dependent diabetes mellitu... OMIM:260370
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Enterokinase Deficiency
Failure to thrive, Diarrhea OMIM:226200
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Abdominal distention, Portal fibrosis, Dysphagia, Inflamm... ORPHA:3260
Hirschsprung Disease
Failure to thrive in infancy, Constipation, Nausea and vomiting, Abdominal pain, Functional abnor... ORPHA:388
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:612692
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hypothyroidism, Glycosuria, Hypokalemia, Hepatic... ORPHA:699
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy,... OMIM:615980
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity, Foot dorsiflexor weakness OMIM:618124
Propionic Acidemia
Hypoglycemia, Arrhythmia, Constipation, Hepatomegaly, Cardiomyopathy, Hyperammonemia ORPHA:35
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism, Nausea, Enlarged kidney, Cholestasis, Hypotension, Hepatom... ORPHA:85445
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Immunodeficiency 61
Obesity, Frequent Giardia lamblia infestation OMIM:300310
Mantle Cell Lymphoma
Weight loss, Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Inertia, Anxiety, Bradykinesia, Inappropriate behav... ORPHA:412066
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Hypoargininemia, Abnormal circulating tyrosine concentration, Feeding difficulties,... ORPHA:79096
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Hypoplasia of penis, Type II diabetes melli... ORPHA:791
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Intermittent diarrhea, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Ma... OMIM:619644
X-Linked Acrogigantism
Diabetes insipidus, Delayed puberty, Increased serum insulin-like growth factor 1, Hypopituitaris... ORPHA:300373
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, Failure to thrive, Cardiomyopathy, Thrombocytopenia ORPHA:67048
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Erythroderma Desquamativum
Failure to thrive, Diarrhea ORPHA:314
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Recurrent otitis media, Abnormal size of pituitary gland, Hyponat... ORPHA:293978
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Decreased circula... ORPHA:2585
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Dilated cardiomyopathy, Leukopenia, Bone marrow hypocellularity, Chronic diarrhea, ... OMIM:613989
Wild Type Attr Amyloidosis
Intermittent diarrhea, Arrhythmia, Congestive heart failure, Gastrointestinal dysmotility, Abnorm... ORPHA:330001
Pyruvate Dehydrogenase E3 Deficiency
Elevated plasma branched chain amino acids, Hypoglycemia, Hepatic failure, Hyperisoleucinemia, De... ORPHA:2394
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Failure to thrive in infancy, Cryptorchidism, External genital h... OMIM:176270
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Elevated circulating C-reactive protein concentration, Splenomega... OMIM:611762
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea OMIM:222900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Abnormal circulating interleukin conc... ORPHA:158057
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Decreased fertility, Obesity, Hypogonadism ORPHA:2233
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Elevated circulating acylcarnitine concentration, Feedin... ORPHA:26792
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Nausea, Hypoglycemia, Cholestasis, Anemia, Portal fibrosis, Diarrhea, Fasting hypoglycemia, Hepat... ORPHA:264580
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperinsulinemia, Cholestasis, Pancreatic ... OMIM:246200
Lysosomal Acid Lipase Deficiency
Hepatic failure, Anemia, Hypersplenism, Thrombocytopenia, Diarrhea, Adrenal calcification, Decrea... OMIM:278000
Huntington Disease
Choking episodes, Abnormal libido, Oral-pharyngeal dysphagia, Decreased body mass index, Polyphag... ORPHA:399
Immunodeficiency 58
Recurrent pneumonia, Helicobacter pylori infection, Cutaneous abscess, Colitis, Decreased circula... OMIM:618131
Immunodeficiency 31C
Hypothyroidism, Autoimmune hemolytic anemia, Eczema, Diabetes mellitus, Delayed puberty, Lymphope... OMIM:614162
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, High, narrow palate ORPHA:2849
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune th... OMIM:615559
Alg1-Cdg
Cardiomyopathy, Decreased liver function, Chronic diarrhea, Hypoalbuminemia ORPHA:79327
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:739
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level, Hypertrophic cardiomyopathy, Decreased liver ... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... OMIM:618839
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Decreased serum testosterone concentration, Abdominal ... OMIM:300869
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hypoglycemia, Orthostatic hypotension, Constipation, Diarrhea, Nor... ORPHA:95409
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, C... OMIM:232400
Kennedy Disease
Skeletal muscle atrophy, Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Dec... ORPHA:481
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Macrog... OMIM:614450
Short Stature, Dauber-Argente Type
Short stature, Fasting hyperinsulinemia, Postnatal growth retardation OMIM:619489
Mehmo Syndrome
Cryptorchidism, Micropenis, Obesity, Hypoplasia of penis, External genital hypoplasia, Diabetes m... ORPHA:85282
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Limb muscle weakness, Testicular atrophy, Dysphagia, Calf muscle hypertrophy OMIM:313200
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Lymphangiectasis, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Cirrhosis, H... OMIM:602579
Cog7-Cdg
Hepatosplenomegaly, Small for gestational age, Feeding difficulties, Hepatomegaly, Jaundice, Elev... ORPHA:79333
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Arth... ORPHA:229717
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Congestive heart failure, Splenomegaly, Hepatomegal... OMIM:613313
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Hematemesis, Otitis media, Abnormal platelet morphology, ... ORPHA:906
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Anorexia, Neutropenia, Hypoalbuminemia, Secreto... OMIM:600351
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Necrotizing Enterocolitis
Bloody diarrhea, Leukocytosis, Hyponatremia, Small for gestational age, Shock, Peritonitis, Hypot... ORPHA:391673
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Arthritis, Aut... OMIM:616100
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Intermittent diarrhea, Hypoglycemia, Methylmalonic acidemia, Failure to th... ORPHA:289504
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Eosinophilic Gastroenteritis
Eosinophilia, Hematochezia, Leukocytosis, Weight loss, Elevated circulating C-reactive protein co... ORPHA:2070
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Increased circulating IgM level, Failure to thrive in infancy, Decreas... OMIM:617241
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Dyspepsia, Chronic diarrhea, Abdominal pain, Abdominal distention, Vomiting ORPHA:103907
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Anorexia, Hepatomegaly, Hypotension, Hyp... ORPHA:134
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Hepatic failure, Cholestasis, Hepatoc... OMIM:231100
Brunner Syndrome
Diarrhea OMIM:300615
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries, Obesity, Overgrowth, Polyphagia OMIM:616831
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Poor suck, Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fu... OMIM:615160
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Hepatic necrosis, Diarrhea, Hyperammonemia, Neo... ORPHA:71212
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Splenomegaly, Hepat... OMIM:240500
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Decreased plasma total carnitine, Arrhythmia, Decreased liver fu... ORPHA:42
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Gastrointestinal hemorrhage, Decreased pro... ORPHA:543
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Abetalipoproteinemia
Hypothyroidism, Anemia, Hyperbilirubinemia, Cardiomegaly, Decreased LDL cholesterol concentration... ORPHA:14
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Diarrhea, Vomiting OMIM:615863
Coproporphyria, Hereditary
Constipation, Splenomegaly, Hepatomegaly, Jaundice, Abdominal pain, Hypertension, Tachycardia, Di... OMIM:121300
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Vomiting ORPHA:30925
Temple Syndrome
Flexion contracture, Small for gestational age, Cryptorchidism, Overweight, Truncal obesity, Matu... OMIM:616222
Addison Disease
Hypoglycemia, Primary adrenal insufficiency, Orthostatic hypotension, Hashimoto thyroiditis, Cons... ORPHA:85138
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Abnormality of the pancreas, Neutrophilia, Elevated circulating C-reactive protein c... ORPHA:54251
Middle Ear Neuroendocrine Tumor
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Chronic diarrhea ORPHA:100084
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... ORPHA:444463
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Mehmo Syndrome
Small for gestational age, Delayed puberty, Micropenis, Obesity, Male hypogonadism, Decreased res... OMIM:300148
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Vomiting OMIM:230350
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Hepatosplenomegaly, Uveitis, Hemophagocytosis, Splenomegaly, H... OMIM:615122
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Orthostatic hypotension, Elevated circulating creatinine concentration, Insulin res... ORPHA:230
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Lymphadenopathy, Weight loss ORPHA:2221
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Lymph... OMIM:617575
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Chronic diarrhea, Steatorrhea OMIM:613291
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Dilated cardiomyopat... OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Chronic diarrhea, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, F... OMIM:619484
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Maculopapular exanthema, Anemia, Increased serum ... ORPHA:540
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Recurre... OMIM:150550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Feeding difficulties, Anorexia, Neutropenia, Anemia, Abdominal pain, ... ORPHA:79312
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Insulin-resistant di... OMIM:604367
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Obesity, Progressive distal muscular atrophy ORPHA:459033
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, ... OMIM:615300
Aggressive Systemic Mastocytosis
Pancytopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Anemia, Ascites, Hypersplenis... ORPHA:98850
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Mpi-Cdg
Hypothyroidism, Portal hypertension, Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing en... ORPHA:79319
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Vasculitis, Ly... ORPHA:37748
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypokalemia, Hypoglycemia, Nausea, Elevated circulating creatinine co... ORPHA:99826
Dystonia 12
Anxiety, Bradykinesia, Unsteady gait, Emotional lability, Depression OMIM:128235
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking OMIM:619191
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... OMIM:618838
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Recurrent pneumonia, Leukocytosis, Small for gestation... ORPHA:99843
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Nausea and vomiting,... ORPHA:75234
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent sinusitis, Atopic dermatitis, Chronic otitis media, B lym... ORPHA:217390
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Constipation, Abdominal pain, Chronic constipation, Diarrhea, Vomiting OMIM:248360
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Chylomicron Retention Disease
Failure to thrive, Malnutrition, Diarrhea, Steatorrhea, Vomiting OMIM:246700
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Diarrhea, Vomiting OMIM:616069
Ménétrier Disease
Nausea, Weight loss, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylo... ORPHA:2494
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Dengue Fever
Hypoproteinemia, Leukopenia, Gastrointestinal hemorrhage, Hypotension, Hepatomegaly, Abdominal pa... ORPHA:99828
Carnitine Palmitoyltransferase I Deficiency
Feeding difficulties in infancy, Hepatic steatosis, Transient hyperlipidemia, Arrhythmia, Hepatom... OMIM:255120
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618858
Pick Disease Of Brain
Polyphagia OMIM:172700
Huntington Disease-Like 2
Anxiety, Bradykinesia, Apathy, Irritability, Depression OMIM:606438
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly, Increased serum pyruvate OMIM:614741
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Anemia, Abdomi