Gene Summary

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

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Lateral Orientation

12 Images

MicroCT E18.5

Embryo reconstruction

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71528
Proprotein Convertase 1/3 Deficiency
Obesity, Reactive hypoglycemia, Diarrhea 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
Obesity, Overweight, Maturity-onset diabetes of the young 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
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
Diabetes mellitus, Type I 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
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Polyphagia, Primary amenorrhea, ... OMIM:614962
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
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, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... 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
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71526
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
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Chronic oral candid... OMIM:300400
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Chronic diarrhea, Increased circulating antibody level, Enlarged kidney, Fail... OMIM:615285
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma OMIM:248100
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Eczema, Complete or near-complete absen... OMIM:607271
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance OMIM:612227
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age, Hypogonadism OMIM:617119
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Decreased circulating antibody level... OMIM:615592
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Vomiting, Diarrhea, Feeding difficulties in infancy, Failure to thrive, Hypogly... OMIM:606528
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Chronic diarrhea, Granuloma, Chilblains, Type I diabetes mellitus, Pancytopenia... OMIM:619858
Immunodeficiency 76
Chronic diarrhea, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphad... OMIM:619164
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lactose Intolerance, Adult Type
Flatulence, Abdominal pain, Diarrhea OMIM:223100
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma... OMIM:615617
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Immunodeficiency 104
Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Eczema, Recurrent otitis media, Chronic muc... OMIM:608971
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Vomiting, Diarrhea, Abdominal distention ORPHA:35122
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Chronic diarrhea, T lymphocytopenia, Erythroderma, Increased circulating antibody level, Lymphocy... ORPHA:169154
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... OMIM:614963
Immunodeficiency 46
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Failure t... OMIM:616740
Immunodeficiency 85 And Autoimmunity
Tube feeding, Oligoarthritis, Reduced natural killer cell count, Vomiting, Chronic diarrhea, Decr... OMIM:619510
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Decreased circulating total IgM, B lymphocytopenia, Neutrophilia, Recurrent sin... OMIM:619281
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, 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 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, T lymphocytopenia, Eczema, Hepatosplenomegaly, Erythroderma, Chronic diarrhea, Ps... OMIM:606367
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Chronic diarrhea, Diarrhea, Skin rash, Abdominal pain, Neutrophilia, Lymphadenopathy, Elevated ci... OMIM:617099
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Chroni... OMIM:614700
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Failure to thrive... ORPHA:181393
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Chronic diarrhea, B lymphocytopenia, Generalized lymphadenopathy, Lymph... OMIM:602450
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Polyphagia, External genital hypoplasia ORPHA:177910
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... ORPHA:324575
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Obesity, Feeding difficulties in infancy, Nausea and vomiting ORPHA:99976
Short Stature Due To Ghsr Deficiency
Vomiting, Decreased body weight, Abdominal pain, Abnormality of body weight, Decreased serum insu... ORPHA:314811
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis ORPHA:85274
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Anemia, Erythroderma, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Typ... OMIM:304790
Immunodeficiency 48
Panhypogammaglobulinemia, Diarrhea, Failure to thrive, Absence of CD8-positive T cells, Hepatomeg... OMIM:269840
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... OMIM:262700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bronchiectasis, Ulcerative co... OMIM:618394
Mody
Transient neonatal diabetes mellitus, Abnormal circulating insulin concentration, Diabetic ketoac... ORPHA:552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... OMIM:616005
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Reduced systolic function, Hepatomegaly, Chronic diarr... OMIM:618805
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Weight loss, Hepatitis, Skin rash, Arthritis,... ORPHA:47
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... OMIM:617638
Glucose/Galactose Malabsorption
Glycosuria, Abdominal distention, Failure to thrive, Hyperactive bowel sounds, Chronic diarrhea, ... OMIM:606824
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia OMIM:617885
Refractory Celiac Disease
Weight loss, Inflammatory abnormality of the skin, Normocytic anemia, Hypophosphatemia, Abdominal... ORPHA:398063
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... ORPHA:276608
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Obesity, Insulin resistance OMIM:615703
Bardet-Biedl Syndrome 5
External genital hypoplasia, Obesity, Micropenis, Hypogonadism OMIM:615983
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia, Diarrhea, Inflammatory abnormality... ORPHA:277
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Immunodeficiency 27A
Anemia, Diarrhea, Weight loss, Enlarged mesenteric lymph node, Hepatosplenomegaly, Anorexia, Lymp... OMIM:209950
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Obesity ORPHA:369873
Inflammatory Bowel Disease 11
Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Trehalase Deficiency
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:103909
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circul... ORPHA:90362
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Vomiting, Diarrhea OMIM:610370
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Immunodeficiency 69
Anemia, Diarrhea, Skin rash, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circu... OMIM:618963
Diarrhea 9
Failure to thrive, Diarrhea OMIM:618168
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Recurrent bacterial skin infections, Chronic diarr... ORPHA:911
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Absent specific antibody response, Eosinophilia, Chronic diarrhea, Hepatomegaly, Pneumo... OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Chronic diarrhea, Keratitis, Increa... OMIM:618523
Mahvash Disease
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diab... OMIM:619290
Immunodeficiency 92
Chronic diarrhea, Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esopha... OMIM:619652
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Anemia, Hepatic fibrosis, Chronic diarrhea, Erythroderma, Abdominal pain, Eczema, ... OMIM:615895
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Pyoderma, Abnormally low T cell receptor excision circle level... OMIM:242700
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Omenn Syndrome
Hypothyroidism, Anemia, Chronic diarrhea, Erythroderma, Thyroiditis, Failure to thrive, Lymphaden... ORPHA:39041
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Mirage Syndrome
Leukopenia, Anemia, Gastroesophageal reflux, Decreased body weight, Achalasia, Chronic diarrhea, ... OMIM:617053
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Cryptorchidi... ORPHA:3055
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... OMIM:262400
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Carcinoma Of Esophagus
Gastroesophageal reflux, Obesity, Weight loss, Dysphagia ORPHA:70482
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Weight loss, Projectile vomiting, Abdominal distenti... OMIM:620045
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presen... OMIM:600802
Adiposis Dolorosa
Obesity, Constipation, Abdominal distention OMIM:103200
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1, Growt... ORPHA:314802
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... OMIM:615513
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating total IgM, T lymphocytopenia, B lymphocytopenia, Chronic oral candidiasis, ... ORPHA:35078
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... OMIM:275000
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Diarrhea, Purulen... OMIM:601457
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Ulcerative colitis, Elevated circulating C-reactive protein concentratio... OMIM:619398
Schaaf-Yang Syndrome
Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Micropenis, Cryptorchi... OMIM:615547
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hypothyroidism, Gastrostomy tube feeding in infancy, Hepatitis, Hyperspl... OMIM:613385
Immunodeficiency 97 With Autoinflammation
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... OMIM:619802
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Premature ovarian insufficiency, Decreased testicular size, Failure to thrive, Cryp... ORPHA:261483
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... OMIM:300635
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Chronic diarrhea, Bronchiectasi... OMIM:208900
Cap Polyposis
Atrophic gastritis, Diarrhea, Weight loss, Abdominal pain, Abdominal distention, Constipation, He... ORPHA:160148
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... ORPHA:261529
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hepatomeg... OMIM:232700
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatic failure, Failure to thrive, Hepatomegaly, Chronic diarrhea, Feeding difficulti... OMIM:613489
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Pancyt... OMIM:617872
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Decreased proportion of class-switched memo... OMIM:617765
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, ... ORPHA:231736
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly OMIM:606445
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glycogen Storage Disease Ixb
Hyperuricemia, Diarrhea, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Splenome... OMIM:261750
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Calf muscle hypertrophy, Lipodystrophy, Decreased se... ORPHA:435651
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... OMIM:617514
Hyper-Igd Syndrome
Lymphadenitis, Vomiting, Diarrhea, Chronic oral candidiasis, Skin rash, Abdominal pain, Neutrophi... OMIM:260920
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Oligomenorrhea, Increased adipose tissue around the ... ORPHA:435660
Insulinoma
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinem... ORPHA:97279
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Neutropenia, Skin rash, Jaundice, Lymphadenopathy, Increased circulating ... OMIM:603552
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Immunodeficiency 59 And Hypoglycemia
Recurrent aphthous stomatitis, Herpes simplex encephalitis, Decreased circulating antibody level,... OMIM:233600
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Optic disc pallor, Retinal thinning, Anxiety OMIM:618970
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Proprotein Convertase 1/3 Deficiency
Obesity, Reactive hypoglycemia, Diarrhea OMIM:600955
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Reticular Dysgenesis
Leukopenia, Anemia, Diarrhea, Weight loss, Decreased circulating antibody level, Aplasia/Hypoplas... ORPHA:33355
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Vomiting, Diarrhea OMIM:605911
Summitt Syndrome
Obesity OMIM:272350
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Infectious encephalitis, Neutropenia, Fulminant hepatitis, Decreased circulating... OMIM:308240
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Diarrhea, Recurrent otiti... OMIM:613501
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Bardet-Biedl Syndrome 9
Irregular menstruation, Polyphagia, Truncal obesity, Obesity, Polydipsia OMIM:615986
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Pancytopenia, Elevated circulating creatine kinase concentration, Failure to thrive, I... OMIM:614576
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypogonadism, Short stature, Hypoglycemia, Postnatal growth retardation OMIM:616113
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Chronic oral ca... OMIM:615607
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Vomiting, Diarrhea OMIM:614265
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... OMIM:609734
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Anemia, Feeding difficulties in infancy, Hypoglycemia OMIM:610090
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Benign Cephalic Histiocytosis
Skin rash, Histiocytosis, Inflammatory abnormality of the skin ORPHA:157997
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Increased circulating ... ORPHA:507
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Weight loss, Abdominal pain, Ulcerative... OMIM:266600
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase... ORPHA:446
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398079
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive OMIM:601410
Immunodeficiency 40
Intermittent diarrhea, T lymphocytopenia, Chronic oral candidiasis, Interstitial pneumonitis, Eos... OMIM:616433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Decreased circulating antibody level, Recurrent sinusitis, Hepatosplenomegaly, Lymphadeno... OMIM:613101
Trichohepatoenteric Syndrome 2
Cirrhosis, Bloody diarrhea, Chronic diarrhea, Diarrhea, Small for gestational age, Decreased seru... OMIM:614602
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Ataxia, Difficulty walking, Depression, Anxiety OMIM:619425
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Failure to thrive, Polyphagia, Hypergonado... OMIM:606407
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity, Hypogonadism OMIM:615981
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Diarrhea, Recurrent otitis media, Failure to thrive, Autoimmune hemolyti... OMIM:618495
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Vomiting, Chronic diarrhea, Hepatitis, Abo... OMIM:614921
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Diarrhea, Chronic oral candidiasis, Increased circulating antibody level, Decreased... ORPHA:169160
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, High palate, Short stature, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... OMIM:614470
Immunodeficiency 47
Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Chronic diarrhea, Thrombocytopenia, Spleno... OMIM:300972
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Diarrhea, Bronchiectasis, Neu... OMIM:607594
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Pr... OMIM:610628
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Shor... ORPHA:1227
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Vomiting, Hyperglycinemia, Poor appetite, Feeding difficulties in ... OMIM:606054
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Polyphagia ORPHA:411515
Papular Xanthoma
Histiocytosis, Hyperlipidemia ORPHA:158008
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98793
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Decreased plasma free carnitine, Feeding difficulties in infancy, Left ventricul... OMIM:619048
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Enterocolitis, Diarrhea OMIM:260005
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea OMIM:614102
Biemond Syndrome Type 2
Hypogonadism, Hypospadias, Delayed puberty, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177904
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Leukopenia, Cerebellar hemorrhage, Vomiting, Hyperglycinemia, Methy... OMIM:251000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177901
Combined Oxidative Phosphorylation Deficiency 52
Hyperalaninemia, Hyperglycinemia, Adrenal insufficiency, Elevated circulating creatine kinase con... OMIM:619386
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Agitation, Diabetes mellitus, Cryptorchidism, O... ORPHA:85282
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Feeding difficulties in infancy, Skin r... OMIM:616050
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Secondary amenorrhea, Type II diabetes mellitus, Decreased testicular ... ORPHA:3085
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyp... OMIM:615084
Shigellosis
Bloody diarrhea, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Tenesmus, Thromboc... ORPHA:810
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Portal fibrosis, Abdominal distention, Inc... ORPHA:369
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased prealbumin level, Vomiting, Decreased circulating total IgM, Decreased circu... ORPHA:90363
Enteric Anendocrinosis
Vomiting, Type I diabetes mellitus, Diarrhea ORPHA:83620
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating a... OMIM:601495
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Microsporidiosis
Brain abscess, Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Chronic diarrhea, Decr... ORPHA:2552
Rabies
Anorexia, Diarrhea, Nausea and vomiting ORPHA:770
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-... OMIM:608594
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Central Precocious Puberty
Isosexual precocious puberty, Premature thelarche, Overgrowth, Increased circulating gonadotropin... ORPHA:759
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intestinal obstructi... ORPHA:913
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Late-Onset Isolated Acth Deficiency
Hypotension, Diarrhea, Decreased circulating cortisol level, Graves disease, Hypoglycemia, Hypopa... ORPHA:199299
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Recurrent hypoglycemia, Diarrhea, Increased body weight ORPHA:94086
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Diarrhea, Recurrent aspiration pneumonia, Hepatosplenomegaly, Chronic hepatic ... ORPHA:79124
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Huntington Disease
Weight loss, Choking episodes, Agitation, Polyphagia, Decreased body mass index, Abnormal libido,... ORPHA:399
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Bardet-Biedl Syndrome 4
External genital hypoplasia, Obesity, Hypogonadism, Cryptorchidism OMIM:615982
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Diarrhea 6
Abdominal pain, Crohn's disease, Chronic diarrhea OMIM:614616
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency 56
Cirrhosis, Hepatic failure, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurr... OMIM:615207
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyphagia, Polydipsia OMIM:222100
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Diarrhea, Sclerosing cholangitis, Decreased proportion of CD4-positive helper ... ORPHA:572
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:398073
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Hypoplas... ORPHA:2234
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Punctate keratitis, Hepatomegaly, Chronic diarrhea, Thrombocytop... OMIM:557000
Solitary Fibrous Tumor/Hemangiopericytoma
Pelvic mass, Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hyp... ORPHA:2126
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Chron... OMIM:614379
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Feeding difficulties in infancy, Neonatal hypoglycemia, Failure to thrive, Incre... OMIM:619046
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Flexion contracture, Precocious puberty, Small pituitary gland, Primary a... ORPHA:398069
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Abnormal circ... ORPHA:2298
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Diarrhea, Parathyroid adenoma, Hyperinsulinemic hypoglycemi... ORPHA:276152
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Reduced intraabdominal adi... OMIM:269700
Immunodeficiency 102
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-po... OMIM:301082
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positiv... OMIM:300853
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Oligoarthritis, Vomiting, Skin rash, Chronic constipation, Abdominal pain, Erysip... OMIM:142680
Coronary Artery Disease, Autosomal Dominant 2
Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance OMIM:610947
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Chromosome Xq26.3 Duplication Syndrome
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Overgrowth, In... OMIM:300942
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Insulin resistance, Abdominal obesity OMIM:615980
Gcgr-Related Hyperglucagonemia
Increased glucagon level, Neoplasm of the pancreas, Abdominal pain, Stomatitis, Diabetes mellitus... ORPHA:438274
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Propionic Acidemia
Hypoglycemia, Hyperammonemia, Constipation, Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia OMIM:608898
Enterokinase Deficiency
Failure to thrive, Diarrhea OMIM:226200
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Chronic diarrhea, Weight loss, Nausea and vomiting, Jaundice, Abdomina... ORPHA:65682
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Bardet-Biedl Syndrome 16
External genital hypoplasia, Obesity, Hypogonadism OMIM:615993
Hirschsprung Disease
Diarrhea, Weight loss, Nausea and vomiting, Functional abnormality of the gastrointestinal tract,... ORPHA:388
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro... OMIM:618534
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Type I diabetes melli... OMIM:301078
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... ORPHA:791
Idiopathic Hypereosinophilic Syndrome
Feeding difficulties in infancy, Supraventricular arrhythmia, Generalized lymphadenopathy, Eczema... ORPHA:3260
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Vomiting, Abnormal cardiac ventricular function, Decreased plasma carnitine, Ele... ORPHA:2394
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Vomiting, Diarrhea, Abdominal pain, Hypoglycemia, Hyperammonemia, Pancreatitis OMIM:620137
Immunodeficiency 91 And Hyperinflammation
Maculopapular exanthema, Intermittent diarrhea, Pulmonary hemorrhage, Neutrophilia, Membranoproli... OMIM:619644
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Abdominal pain, Skin rash, Lymphadeno... OMIM:611762
Solitary Rectal Ulcer Syndrome
Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Abdominal... ORPHA:209964
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function, Thrombocytopenia, Cardiomyopathy ORPHA:67048
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneu... ORPHA:276
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Neutropenia, ... ORPHA:158057
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating threonine concentration, Abnormal circulating arginine concentration, Pyrido... ORPHA:79096
Diarrhea 5, With Tufting Enteropathy, Congenital
Small for gestational age, Failure to thrive, Intractable diarrhea OMIM:613217
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Failure to thrive, Vomiting, Diarrhea OMIM:615863
Erythroderma Desquamativum
Failure to thrive, Diarrhea ORPHA:314
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Obesity, Hypogonadism, Abnormal testis morphology ORPHA:2233
Mantle Cell Lymphoma
Anorexia, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Wiskott-Aldrich Syndrome
Diarrhea, Large vessel vasculitis, Eczema, Recurrent sinusitis, Eosinophilia, Chronic diarrhea, D... OMIM:301000
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... ORPHA:739
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... ORPHA:699
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea OMIM:222900
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Aa Amyloidosis
Hypotension, Hypothyroidism, Vomiting, Chronic diarrhea, Adrenal insufficiency, Enlarged kidney, ... ORPHA:85445
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Weight loss, Abnorma... ORPHA:330001
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Calf muscle hypertrophy, Testicular atrophy, Dysphagia, Limb muscle weakness OMIM:313200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed puberty, Delayed thelarche OMIM:616033
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, High, narrow palate ORPHA:2849
Donohue Syndrome
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Postprandial hyperglycemia, Cholestasis, ... OMIM:246200
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Small for gestational age, Decreased testicular size, Decreased serum testosterone ... OMIM:300869
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, D... OMIM:612692
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased live... OMIM:246900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, H... OMIM:278000
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Abdominal pain, Splenomegaly OMIM:118830
Pituitary Hormone Deficiency, Combined, 2
Decreased circulating follicle stimulating hormone concentration, Hypothyroidism, Short stature, ... OMIM:262600
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... OMIM:618839
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... ORPHA:26792
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Alg1-Cdg
Decreased liver function, Cardiomyopathy, Chronic diarrhea, Hypoalbuminemia ORPHA:79327
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating creatine kinase concentration, Hypoglycemia, Hepatomegaly,... OMIM:232400
Brunner Syndrome
Diarrhea OMIM:300615
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypoglycemia, He... ORPHA:264580
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Macroglossia, Impaired sensitivity to thyroid h... OMIM:614450
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... OMIM:617241
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Absent isohemagglutinin level, Increased circulating antibody level, Arth... OMIM:615559
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, T lymphocytopenia, Abnormally low T cell receptor excision circle l... OMIM:618806
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Immunodeficiency 9
Recurrent aphthous stomatitis, Hypoplasia of the thymus, Stomatitis, Failure to thrive, Chronic d... OMIM:612782
Carnitine Deficiency, Systemic Primary
Microvesicular hepatic steatosis, Vomiting, Diarrhea, Impaired gluconeogenesis, Decreased plasma ... OMIM:212140
Eosinophilic Gastroenteritis
Anemia, Vomiting, Diarrhea, Weight loss, Allergic rhinitis, Abdominal pain, Steatorrhea, Elevated... ORPHA:2070
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Hypogonadism OMIM:615985
Immunodeficiency 58
Recurrent aphthous stomatitis, Bronchiectasis, Decreased circulating antibody level, Allergic rhi... OMIM:618131
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Hyperinsulinemic hypoglyce... ORPHA:263455
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Vomiting, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondri... OMIM:251880
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Acute Adrenal Insufficiency
Hypotension, Diarrhea, Decreased circulating aldosterone level, Decreased circulating cortisol le... ORPHA:95409
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy, Skeleta... ORPHA:481
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... OMIM:615160
Necrotizing Enterocolitis
Hypotension, Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Diarrhea, Small for gestati... ORPHA:391673
Isolated Agammaglobulinemia
Anemia, Diarrhea, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnormality of the l... ORPHA:229717
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Luscan-Lumish Syndrome
Irregular menstruation, Overgrowth, Polycystic ovaries, Polyphagia, Obesity OMIM:616831
Cog7-Cdg
Diarrhea, Small for gestational age, Jaundice, Hepatosplenomegaly, Elevated circulating creatine ... ORPHA:79333
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Eczema, Chronic diarrhea, Hematemesis, Thrombocyt... ORPHA:906
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Diarrhea, Decreased circula... OMIM:616100
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Failure to thrive, Inflammation of the large intestine, Decreas... OMIM:615767
Hemochromatosis, Type 2B
Anemia, Increased serum iron, Cirrhosis, Hepatic fibrosis, Hypogonadism, Elevated transferrin sat... OMIM:613313
Mu-Heavy Chain Disease
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... ORPHA:100024
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis, Rectal abscess, Elevated circula... OMIM:116920
Beta-Ketothiolase Deficiency
Hypotension, Hyperuricemia, Vomiting, Diarrhea, Weight loss, Hypertension, Anorexia, Hypoglycemia... ORPHA:134
Prader-Willi Syndrome
Precocious puberty, Adrenal insufficiency, Primary amenorrhea, Abdominal obesity, External genita... OMIM:176270
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Short stature, Postnatal growth retardation OMIM:619489
Immunodeficiency, Common Variable, 2
Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent ... OMIM:240500
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... OMIM:312863
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Combined Malonic And Methylmalonic Acidemia
Vomiting, Intermittent diarrhea, Methylmalonic acidemia, Dicarboxylic acidemia, Failure to thrive... ORPHA:289504
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Cachexia, Elevated circulating creatine kinase concentration, Hepatic steatos... ORPHA:42
Pick Disease Of Brain
Disinhibition, Polyphagia OMIM:172700
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... OMIM:615300
Hemochromatosis, Neonatal
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatic failure, Hepatocellular nec... OMIM:231100
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abdominal pain, Abdominal distention, Dyspepsia, Nausea, Chronic diarrhea ORPHA:103907
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Diarrhea, Feeding difficulties in infancy, D... ORPHA:71212
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Failure to t... OMIM:226990
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the pancreas, Abnormality of the li... ORPHA:543
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Bronchiectasis, Small for gestational age, Hypoglycemia, Hyperammonemia, Dy... OMIM:618253
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety OMIM:619191
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Coproporphyria, Hereditary
Vomiting, Diarrhea, Jaundice, Abdominal pain, Hypertension, Tachycardia, Constipation, Hepatomega... OMIM:121300
Dopamine Beta-Hydroxylase Deficiency
Anemia, Hyperinsulinemia, Vomiting, Diarrhea, Rhinitis, Abnormal EKG, Syncope, Insulin resistance... ORPHA:230
Omenn Syndrome
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Erythroderma, Failure to thrive, S... OMIM:603554
Lymphoproliferative Syndrome 2
Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Uveitis, Recurrent pneumo... OMIM:615122
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Chronic oral candidia... OMIM:150550
Dystonia 12
Emotional lability, Depression, Anxiety, Unsteady gait, Bradykinesia OMIM:128235
Addison Disease
Hypotension, Diarrhea, Decreased circulating aldosterone level, Decreased circulating cortisol le... ORPHA:85138
Trimethylaminuria
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Hereditary Central Diabetes Insipidus
Vomiting, Diarrhea, Weight loss ORPHA:30925
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Gastrointestinal hemorrhage, Hep... ORPHA:79319
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Steatorrhea, Chronic diarrhea OMIM:613291
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Abdominal pain, Chronic constipation, Hypoglycemia, Constipation OMIM:248360
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Hepatomegaly, Erythroderma, Colitis, Decreased liver functio... ORPHA:540
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Hepatic fibrosis, Dilated cardiomyopathy, Pancytopenia, Failure to thrive, Thrombocyt... OMIM:613989
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Recurrent otitis media, Au... ORPHA:444463
Galactosemia Iii
Vomiting, Hypergalactosemia, Jaundice, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:230350
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... OMIM:604367
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Diarrhea, Wei... ORPHA:54251
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l... OMIM:619220
Abetalipoproteinemia
Hypothyroidism, Keratoconjunctivitis sicca, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Chr... ORPHA:14
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Nausea and vomiting, Abdominal pain, Pancreatitis, Failure to thrive, Anorexia, Hyperammo... ORPHA:79312
Temple Syndrome
Flexion contracture, Precocious puberty, Small for gestational age, Decreased testicular size, Ma... OMIM:616222
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Arthritis, Congestive heart failure, Dilated cardiomyopathy, Inc... OMIM:602390
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Poor appetite, Weight loss, Chronic diarrhea ORPHA:2221
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Aggressive Systemic Mastocytosis
Hypotension, Diarrhea, Hepatosplenomegaly, Decreased liver function, Thrombocytopenia, Weight los... ORPHA:98850
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Hepatic steatosis, Failure to thrive, Hepatomegaly, Hypertriglyceride... OMIM:614480
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... OMIM:618838
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Carcinoid tumor, Neuroendocrine neoplasm, Chronic diarrhea ORPHA:100084
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Intrahepatic cholestasis, Failure to thrive, Chronic diarrhea, Conjugated hy... OMIM:619484
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Small for gestational age, Type I diabetes mellitus OMIM:606176
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Rec... ORPHA:217390
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... ORPHA:98855
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Diarrhea, Nausea and vomiting, Jaundice, Hepatomegaly, Hypercholester... ORPHA:75234
Marburg Hemorrhagic Fever
Hypotension, Bloody diarrhea, Diarrhea, Reticulocytosis, Elevated circulating creatine kinase con... ORPHA:99826
Neuroendocrine Tumor Of Stomach
Hypotension, Bloody diarrhea, Facial telangiectasia, Cardiogenic shock, Atypical pulmonary carcin... ORPHA:100075
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hep... ORPHA:37748
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Chylomicron Retention Disease
Vomiting, Diarrhea, Steatorrhea, Malnutrition, Failure to thrive OMIM:246700
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Hepatocellular Carcinoma
Hypotension, Diarrhea, Hypoglycemia, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobilia, Abn... ORPHA:88673
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi... OMIM:300148
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Constipation, Diarrhea OMIM:615548
Leukocyte Adhesion Deficiency Type Ii
Anemia, Chronic diarrhea, Abnormal isohemagglutinin level, Small for gestational age, Neutrophili... ORPHA:99843
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Hypoglycemia, Bile duct proliferation, Hepatomegal... OMIM:613027
Frontotemporal Dementia
Disinhibition, Polyphagia OMIM:600274
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Bronchiectasis, Decreased circulating cortisol level, Recurrent sinusitis, Hyponatre... ORPHA:293978
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive, Increase... OMIM:619868
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Anemia, Vomiting, Diarrhea, Ascites, Abdominal distention, Failure to thrive, Cho... OMIM:608104
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Small for gestational age, Ascites, Failure to thrive, Hypoglycemia, Hyperammone... OMIM:614702
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly</