Gene: Bag3 MGI:1352493

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Gene Summary

Name:
BCL2-associated athanogene 3
Synonyms:
Bis,  Bcl-2-interacting death suppressor

IMPC Data Collections

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 blood urea nitrogen level Bag3tm1b(EUCOMM)Hmgu HET Early adult 1.92×10-05
increased circulating serum albumin level Bag3tm1a(EUCOMM)Hmgu HET Early adult 5.77×10-05
increased circulating calcium level Bag3tm1a(EUCOMM)Hmgu HET Early adult 2.83×10-05
preweaning lethality, complete penetrance Bag3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (4 of 4)
Aorta  Wholemount images heterozygote 100% (4 of 4)
Bone  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Esophagus  Wholemount images heterozygote 100% (4 of 4)
Eye  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 100% (4 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images heterozygote 100% (4 of 4)
Ovary  Wholemount images heterozygote 25% (1 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Peyer's patch  Wholemount images heterozygote 75% (3 of 4)
Pituitary gland  Wholemount images heterozygote 50% (2 of 4)
Prostate gland  Wholemount images heterozygote 50% (2 of 4)
Skin  Wholemount images heterozygote 100% (4 of 4)
Small intestine  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Stomach  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vascular system  Wholemount images heterozygote 100% (4 of 4)
Brainstem N/A heterozygote 50% (2 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 25% (1 of 4)
Hippocampus N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 25% (1 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote 100% (1 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote Not available
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote Not available
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Skull Dorso Ventral Orientation

10 Images

Echo

M-Mode Images

28 Images

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Bag3 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 Bag3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Bag3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hirsuti... OMIM:612526
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatic fibrosis, Hypertrig... ORPHA:280356
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Hepatic steatosis, Diabetes mellitus OMIM:613877
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Pancytopenia, Hepatomegaly, Failu... OMIM:617872
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hirsutism, Hype... OMIM:604367
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Generalized hirsutism ORPHA:79087
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Peripheral edema, Abnormal left ventricular function, Atrial fibrill... ORPHA:75249
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, A... OMIM:615980
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Decreased body weight, ... ORPHA:314811
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Griscelli Syndrome Type 2
Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neutropenia, Pancytopenia,... ORPHA:79477
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Failure to thrive OMIM:616022
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:435660
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Specific Granule Deficiency 2
Absent neutrophil specific granules, Hirsutism, Neutropenia, Thrombocytopenia, Failure to thrive,... OMIM:617475
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Short stature, Postnatal growth retardation, Abdominal obesity OMIM:618160
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:300400
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest... OMIM:617156
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po... ORPHA:435651
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Lymphopen... OMIM:604250
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Failure to thrive OMIM:613501
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Low anterior hairline, Low posterior hairline, Hyperinsulinemia,... ORPHA:528
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia ORPHA:90023
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... ORPHA:330001
Immunodeficiency 8
Lymphopenia OMIM:615401
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Red hair, Pituitary hypothyroid... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Red hair, Pituitary hypothyroid... ORPHA:71526
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... ORPHA:446
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Polycystic ovaries... ORPHA:2348
Immunodeficiency 19
Lymphopenia, Failure to thrive OMIM:615617
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:617241
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Failure to thriv... ORPHA:79312
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy, Ragged-red muscle fibers, Abnormalit... ORPHA:270
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Ketotic hypoglycemia, Failur... ORPHA:26792
Mu-Heavy Chain Disease
Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Right ventricular failure, Pulmonary capillary hemangiomatosis, Eleva... ORPHA:199241
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Failure to thrive, Decreased liver function, Hypoglycemia ORPHA:67048
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Hyponatremia, Hypoglycemia, Decrease... OMIM:617053
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:264580
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Polycystic ovaries,... ORPHA:90970
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Pu... ORPHA:70587
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic fibrosis, Elevated circulating... OMIM:232400
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Cellulitis, Lymphadenitis, Lymphopenia, Abnormally low T cell r... OMIM:618986
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Weight loss, Increased serum sero... ORPHA:100083
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrop... OMIM:615381
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglyce... OMIM:212140
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Microcytic anemia, Hepatic steatosis, Hypothyroidism, Hypopituitar... OMIM:619013
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine aminotransferas... OMIM:619386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
X-Linked Agammaglobulinemia
Hypocalcemia, Cellulitis, Neutropenia, Weight loss, Thrombocytopenia, Hepatitis, Recurrent cutane... ORPHA:47
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, Lymph... OMIM:304790
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hirsutism, Abnormal circulating lipid concentration, Weight loss, ... ORPHA:2298
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombo... ORPHA:507
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Acute pancreatitis, Increased circulating chylomicron c... ORPHA:444490
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Small for gestatio... ORPHA:699
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Hypotension, Pleural effusion, Pedal edema, Pulmonary edema, Myocarditis ORPHA:188
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Increased facial adipose tissue, Insulin resistance, Increased adipose... ORPHA:280365
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:98293
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... ORPHA:98850
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hypothyroidism, Neutropenia, Hepatomegaly, Elevated circulating creatine kinas... OMIM:251900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abnormal testis morphology, Weight loss, Liver abscess, Abnormalit... ORPHA:54251
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Bilia... ORPHA:567983
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystr... OMIM:613327
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Felty Syndrome
Cellulitis, Abnormal lymphocyte morphology, Neutropenia, Weight loss, Thrombocytopenia, Hepatomeg... ORPHA:47612
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, ... OMIM:209950
Wolman Disease
Bone-marrow foam cells, Steatorrhea, Hepatomegaly, Adrenal insufficiency, Cachexia, Anemia, Splen... ORPHA:75233
Adult Acute Respiratory Distress Syndrome
Hypotension, Pneumonia, Pulmonary edema, Shock, Vasculitis, Pulmonary infiltrates ORPHA:70578
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Elevated hepatic transa... ORPHA:1667
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Elevate... OMIM:255120
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Elevated hepatic transaminase, Ne... ORPHA:540
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia ORPHA:289916
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Propionic Acidemia
Hyperglycinemia, Neutropenia, Hypoglycemia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia,... OMIM:606054
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes insipidus, Di... OMIM:598500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Jaundice, Hepatic failure, S... ORPHA:75234
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intra... OMIM:608594
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated hepatic transaminase, Elevated circulating sebacic acid concentration, I... OMIM:615160
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Interface hepatitis, Autoimmune hemolytic anemia, Omphalocele, Hypoplasia of t... OMIM:243150
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... ORPHA:66529
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Pancytopenia, Thrombocytopenia, Hep... ORPHA:398124
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Failure to thrive OMIM:618958
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Truncus Arteriosus
Abnormal heart valve physiology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery stenosi... ORPHA:3384
Ovarian Hyperstimulation Syndrome
Hypovolemia, Pleural effusion, Peripheral edema, Ascites, Pulmonary edema, Generalized edema, Cap... ORPHA:64739
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Camptodactyly, Elevated circulating long chain fatty acid concentration, Intrahep... OMIM:214110
Reticular Dysgenesis
Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Weight loss, Anemia, Leukopenia, Fa... ORPHA:33355
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypopigmentation of hair, Abnormality of iron homeostasis, Hypothyroid... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis,... OMIM:212065
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Neonatal hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Failure to thr... OMIM:619046
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Neoplasm of the liver, Reduced C-peptide... ORPHA:2126
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Failure to thrive, Hepatic fail... OMIM:617049
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low anterior hairline, Highly arched eyebrow, Microvesicular hepatic steatosis, Increased hepatoc... OMIM:220111
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Weight loss, Thrombocytopenia, Hepatomegaly, Abnormal ... ORPHA:3226
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intra... OMIM:269700
Follicular Lymphoma
Abnormality of the peritoneum, Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Immunodeficiency 46
Failure to thrive, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Mpi-Cdg
Hepatic failure, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:246900
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branched chain amino a... ORPHA:2394
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Pfapa Syndrome
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:42642
Myopathy, Congenital Proximal, With Minicore Lesions
Oligohydramnios, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-... OMIM:618823
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ab... ORPHA:2686
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Pleural effusion, Tachycardia, Pulmonary edem... ORPHA:542323
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaun... OMIM:201400
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficie... OMIM:307030
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Ele... ORPHA:263455
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Carcinoma Of Esophagus
Weight loss, Lymphadenopathy, Obesity ORPHA:70482
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Decreased liver function, Ane... OMIM:618835
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Lipodystrophy, Panniculitis, Flexion contracture, Thr... OMIM:617591
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Adrenal insuffic... OMIM:617575
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Decreased liver function, Ane... OMIM:618839
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Failure to thrive, Leukopenia OMIM:229050
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Elevated circulating aspartate aminotransferase concentra... ORPHA:2088
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimuation test, Hypoglycemia, Delayed pu... OMIM:300148
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Hypoglycemia ORPHA:35
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Hypophosphatasia
Hypercalcemia ORPHA:436
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Flexion contracture, Macrovesicular hepatic steatosis, Neutropenia, Hirsut... OMIM:617303
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Necrotizing Enterocolitis
Peritonitis, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Small for gestational age... ORPHA:391673
Ataxia-Telangiectasia
T lymphocytopenia, Glucose intolerance, Abnormal hair morphology, Decreased proportion of CD4-pos... OMIM:208900
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hyperbilirubinemia, Macrovesicul... OMIM:613070
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Hypopigmentation of hair, Impaired neutrophil bacteric... OMIM:214500
Barth Syndrome
Granulocytopenia, Neutropenia, Failure to thrive OMIM:302060
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Neutropenia, Hyperuricemia,... OMIM:232220
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Thrombocytopenia, Elevated ... ORPHA:811
Ataxia-Telangiectasia
Hypopigmentation of hair, Elevated hepatic transaminase, Premature graying of hair, Abnormal test... ORPHA:100
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Gracile Bone Dysplasia
Hypocalcemia, Failure to thrive, Hypoplastic spleen, Asplenia OMIM:602361
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Pelger-Huet Anomaly
Abnormality of neutrophils, Neutropenia, Umbilical hernia, Hyposegmentation of neutrophil nuclei,... OMIM:169400
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Postnatal growth retardation, Small for gestational age, ... ORPHA:231144
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Muscular dystrophy, Pneumonia, Muscle fiber hypertrophy, Shoulder girdle muscle w... ORPHA:98905
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neutrope... ORPHA:445038
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Elevated hepatic transaminase, ... ORPHA:247585
Methylmalonic Aciduria, Cblb Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Methylmalonic acidemi... OMIM:251110
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Bilater... OMIM:618156
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Elevated hepatic transaminase, H... OMIM:203800
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Elevated hepatic transaminase, Ne... OMIM:260400
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Primary hypothyroidism, Failure ... ORPHA:300536
Aredyld Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the eyebrow, Lipoatrophy, Hepatomegaly, ... ORPHA:1133
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Failu... ORPHA:289504
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Fail... ORPHA:2089
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive, Hypocholesterolemia OMIM:616834
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Thyroiditis, Neutropenia, Abnormal blood ion concentrat... ORPHA:37042
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglyc... ORPHA:99901
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... OMIM:609452
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopenia, Hepatit... ORPHA:292
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Chronic noninfectious lym... ORPHA:97289
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia, Failure to thrive OMIM:601495
Ethylene Glycol Poisoning
Hypotension, Renal tubular epithelial necrosis, Atrial fibrillation, Hypertension, Congestive hea... ORPHA:31826
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Sparse eyebrow, Hypocholesterolemia, Hepatomegaly, Neonatal death, Brittle hair OMIM:618810
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Lack of facial subcutaneous fat, Elevated hepatic transaminase, Microcytic ane... ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hyperalaninemia, Small for gestational age, Hypoglycemia OMIM:614702
Methylmalonic Aciduria, Cbla Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Methylmalonic acidemi... OMIM:251100
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Failure to thrive, Hepatosplenome... OMIM:242700
Developmental And Epileptic Encephalopathy 66
Synophrys, Cryptorchidism, Neutropenia, Anemia OMIM:618067
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Hypothyroidism, Acute pancreatitis, Hepatom... ORPHA:412
Methylcobalamin Deficiency Type Cble