Gene Summary

Name:
proprotein convertase subtilisin/kexin type 1
Synonyms:
SPC3,  prohormone convertase 1/3,  Phpp-1,  PC3,  PC1,  Nec1,  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
decreased locomotor activity Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 6.85×10-18
abnormal freezing behavior Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 5.39×10-05
abnormal retina vasculature morphology Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 6.00×10-05
preweaning lethality, incomplete penetrance Pcsk1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal retina blood vessel morphology Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 6.05×10-05
persistence of hyaloid vascular system Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 1.58×10-07
abnormal vitreous body morphology Pcsk1tm1b(EUCOMM)Wtsi HET Early adult 5.31×10-07

Download data as:  TSV  XLS

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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

MicroCT E18.5

Embryo reconstruction

2 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
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... 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
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
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 2
Type I diabetes mellitus OMIM:125852
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
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, 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
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic ... OMIM:615592
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Failure to t... OMIM:606528
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro... OMIM:619858
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... OMIM:615617
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... ORPHA:98813
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating ... OMIM:616740
Immunodeficiency 85 And Autoimmunity
Tube feeding, Lymphopenia, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis... OMIM:619510
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Decreased circulating total Ig... OMIM:619281
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportio... OMIM:606367
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Gastroesophageal reflux, Obesity ORPHA:99976
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co... OMIM:617099
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Abdominal... ORPHA:314811
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity OMIM:103200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... OMIM:304790
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm... OMIM:269840
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Reduced systolic function, Microcytic anemia, Chronic... OMIM:618805
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lymphatic ... OMIM:616005
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... OMIM:617638
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Glucose/Galactose Malabsorption
Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Failure to thrive, ... OMIM:606824
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Ab... ORPHA:398063
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... ORPHA:3055
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Pulmonary insufficiency, Absence of... ORPHA:277
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin OMIM:617885
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... OMIM:209950
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Diarrhea 9
Diarrhea, Failure to thrive OMIM:618168
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Abdominal pain, Chronic diarrhea, Functional abnormality of the... ORPHA:90362
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevat... OMIM:617872
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Chronic diarrhea, Bronchiectasi... OMIM:618523
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli... OMIM:619290
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, Obesity, External genital hypoplasia OMIM:615983
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, ... OMIM:242700
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Splenom... OMIM:615895
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic dia... ORPHA:39041
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona... OMIM:615547
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Thrombocytopenia,... OMIM:617053
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure... ORPHA:276556
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... OMIM:262400
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... ORPHA:314802
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... OMIM:620045
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Gastrostomy tube f... OMIM:613385
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... OMIM:300635
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Diabetes mellitus, Fe... OMIM:208900
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H... OMIM:232700
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Lipodystro... ORPHA:435660
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen con... OMIM:261750
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple... OMIM:603552
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto... OMIM:260920
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Diarrhea, Weight loss, Decreased circulating antibody leve... ORPHA:33355
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98793
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Summitt Syndrome
Obesity OMIM:272350
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98754
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis, Hepatic failure, F... OMIM:613489
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... ORPHA:398079
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul... ORPHA:79237
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Narcolepsy Type 1
Obesity ORPHA:2073
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177904
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Bardet-Biedl Syndrome 9
Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia OMIM:615986
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177901
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Chr... OMIM:614576
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Huntington Disease
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol u... ORPHA:399
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency 40
Hepatomegaly, Recurrent pneumonia, Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, I... OMIM:616433
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu... OMIM:613101
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, ... ORPHA:507
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci... OMIM:618108
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... OMIM:618495
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Hypoglycemia, Elevated c... OMIM:614921
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Chroni... OMIM:614602
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... OMIM:606407
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Agi... ORPHA:85282
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Anorexia, Diarrhea, Recurrent pne... ORPHA:169160
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Poor appetite, Feeding difficulties in infancy,... OMIM:606054
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsuli... OMIM:262190
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weight, Clitoral ... ORPHA:398069
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ... OMIM:607594
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Feeding difficulties in infancy, Congestive heart failure, Decreased ... OMIM:619048
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Leukop... OMIM:251000
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration... OMIM:616050
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Enteric Anendocrinosis
Type I diabetes mellitus, Diarrhea, Vomiting ORPHA:83620
Shigellosis
Anorexia, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemi... ORPHA:810
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... ORPHA:2552
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... ORPHA:158061
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Abdominal distention, Hyperlipidemia, Increased hepatic glycogen cont... ORPHA:369
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Dilated cardi... OMIM:615084
Blue Diaper Syndrome
Diarrhea, Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Abdominal colic, Intestinal obstruction, Right ven... ORPHA:90363
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Adre... OMIM:619386
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat... ORPHA:199299
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Hepatic failure, Recurrent pneumo... OMIM:615207
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Tall stature, Diabetes mellitus, Lipodystrophy, Reduced intr... OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Feeding difficulties in infancy, Splenomegaly, Hyper... OMIM:619046
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abdominal pain, Increased glucagon level, Stomatitis... ORPHA:438274
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia OMIM:615982
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... ORPHA:2126
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... ORPHA:2298
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Constipation, Arrhythmia ORPHA:35
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypoplastic anemia, Hep... OMIM:557000
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,... ORPHA:2234
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... OMIM:142680
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Abdominal obesity OMIM:615980
Solitary Rectal Ulcer Syndrome
Abdominal pain, Episodic abdominal pain, Hematochezia, Chronic constipation, Tenesmus, Bloody dia... ORPHA:209964
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Luscan-Lumish Syndrome
Aggressive behavior, Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, Polyphagia OMIM:616831
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou... ORPHA:228402
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu... OMIM:611762
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Tall stature, Lipodystrophy, Reduced intraabdominal adipose ... OMIM:269700
Hirschsprung Disease
Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh... ORPHA:388
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Wolfram-Like Syndrome
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... ORPHA:411590
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Elevated circulating branched chain amino ac... ORPHA:2394
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
X-Linked Acrogigantism
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... ORPHA:300373
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Calf muscle hypertrophy, Dysphagia, Limb muscle weakness, Testicular atrophy OMIM:313200
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis OMIM:620137
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Macu... OMIM:619644
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Acholic s... ORPHA:65682
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Absent micr... OMIM:301000
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, In... ORPHA:3260
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cardiomyopathy, Decreased liver function, Failure to thrive, Thrombocytopenia ORPHA:67048
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Small for gestational age OMIM:613217
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Failure to thrive, Vomiting, Diarrhea OMIM:615863
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Brunner Syndrome
Diarrhea OMIM:300615
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity ORPHA:2233
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Short stature, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity, External genital hypoplasia OMIM:615993
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te... ORPHA:481
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Feeding difficulties, Decreased liver funct... OMIM:246900
Perlman Syndrome
Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Aa Amyloidosis
Hepatomegaly, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Vomiting, Adrenal insu... ORPHA:85445
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Feeding difficulties, Car... ORPHA:26792
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, He... OMIM:246200
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain OMIM:118830
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi... ORPHA:264580
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Bowel incontinence, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Prader-Willi Syndrome
Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulation test, Exte... OMIM:176270
Alg1-Cdg
Cardiomyopathy, Chronic diarrhea, Hypoalbuminemia, Decreased liver function ORPHA:79327
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... OMIM:300148
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, C... OMIM:232400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance OMIM:613877
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhe... OMIM:620233
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
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Ab... OMIM:620282
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Anorexia, Weight loss ORPHA:52416
Morm Syndrome
Truncal obesity, Hyperactivity, Micropenis, Aggressive behavior ORPHA:75858
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Episodic vomiting, Hyperammone... OMIM:615160
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th... ORPHA:229717
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Precocious puberty, ... OMIM:616222
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... OMIM:212140
Wagro Syndrome
Decreased testicular size, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polypha... OMIM:612469
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten... OMIM:251880
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Hypertension, Vomiti... OMIM:121300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... ORPHA:263455
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Cardiom... ORPHA:42
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Vomiting, Intermittent diarrhea, Fai... ORPHA:289504
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Abdominal... ORPHA:2070
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit... OMIM:616100
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop... OMIM:615767
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Necrotizing Enterocolitis
Hyponatremia, Shock, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, ... ORPHA:391673
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Adrenal hypoplasia, Myocardial... ORPHA:95409
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis... OMIM:240500
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul... ORPHA:100024
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Cog7-Cdg
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Jaun... ORPHA:79333
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... OMIM:116920
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Bronchiectasis, Hyperammonemia, Dysphagia, Feeding diffi... OMIM:618253
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Leukocytosis, Diarrhea, Hyperammonemia, Weight loss, Hypert... ORPHA:134
Burkitt Lymphoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi... ORPHA:71212
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Diarrhea, Insulin resistance, Hyperinsulinem... ORPHA:230
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... ORPHA:79319
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Vomiting, Hypergalactosemia, Failure to thrive OMIM:230350
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Failure to thrive, Steatorrhea OMIM:613291
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal... ORPHA:85138
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Thrombocytopenia, Splenomegaly, Hype... ORPHA:79312
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Chronic diarrhea, Dilated cardiomyopathy, Leukopenia, Hepatic fibr... OMIM:613989
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity OMIM:615985
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... ORPHA:98855
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, ... OMIM:614480
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic diarrhea, Periportal fibrosis, F... OMIM:619484
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Congenital Myopathy 9A
Cryptorchidism, EMG: myopathic abnormalities, Obesity OMIM:618822
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Vomitin... ORPHA:14
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi... ORPHA:3077
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu... ORPHA:37748
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Trisomy 18P
Bilateral cryptorchidism, Polyphagia, Facial palsy, Attention deficit hyperactivity disorder ORPHA:1715
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Lymphadenopathy, Poor appetite, Weight loss ORPHA:2221
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jau... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Atypical ... ORPHA:100075
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Cardiomegaly, Hyperammonemia, Feeding difficulties, Asci... OMIM:614702
Marburg Hemorrhagic Fever