Gene Summary

Name:
a disintegrin and metallopeptidase domain 26A (testase 3)
Synonyms:
Adam26,  Dtgn4

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
abnormal testis morphology Adam26atm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating creatinine level Adam26atm1.1(KOMP)Vlcg HOM Early adult 1.25×10-08
increased circulating total protein level Adam26atm1.1(KOMP)Vlcg HOM Early adult 2.48×10-11
increased circulating alkaline phosphatase level Adam26atm1.1(KOMP)Vlcg HOM Early adult 2.89×10-08
increased circulating phosphate level Adam26atm1.1(KOMP)Vlcg HOM Early adult 1.42×10-07
enlarged epididymis Adam26atm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating serum albumin level Adam26atm1.1(KOMP)Vlcg HOM Early adult 1.28×10-14
increased circulating glucose level Adam26atm1.1(KOMP)Vlcg HOM Early adult 3.11×10-07
increased blood urea nitrogen level Adam26atm1.1(KOMP)Vlcg HOM Early adult 7.54×10-05
increased circulating calcium level Adam26atm1.1(KOMP)Vlcg HOM Early adult 2.92×10-11
increased circulating alanine transaminase level Adam26atm1.1(KOMP)Vlcg HOM Early adult 2.41×10-06
small testis Adam26atm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating cholesterol level Adam26atm1.1(KOMP)Vlcg HOM Early adult 3.89×10-05
abnormal epididymis morphology Adam26atm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased bronchoconstrictive response Adam26atm1.1(KOMP)Vlcg HOM Early adult 2.80×10-07

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.54% (3 of 556)
aorta 0.18% (1 of 553)
blood 0.0%
bone marrow 0.0%
brain 0.73% (4 of 551)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 538)
cecum 3.46% (12 of 347)
cerebellum 0.37% (2 of 539)
cerebral cortex 0.36% (2 of 550)
chest bone Unavailable
colon 9.84% (12 of 122)
diaphragm 0.0%
duodenum 1.67% (2 of 120)
epididymis 13.82% (17 of 123)
esophagus 1.82% (7 of 384)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.36% (2 of 554)
hindlimb 0.0%
hippocampus 0.56% (3 of 538)
hypothalamus 0.37% (2 of 544)
ileum 9.65% (11 of 114)
jejunum 4.96% (6 of 121)
kidney 3.44% (19 of 553)
large intestine 1.77% (10 of 566)
liver 0.0%
lower urinary tract 0.18% (1 of 549)
lung 0.37% (2 of 546)
lymph node 0.18% (1 of 550)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.89% (5 of 562)
parathyroid gland 0.19% (1 of 517)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.36% (2 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 547)
prostate gland 2.03% (11 of 543)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 550)
small intestine 1.64% (9 of 550)
spinal cord 0.55% (3 of 542)
spleen 0.54% (3 of 553)
stomach 2.01% (11 of 548)
stomach pyloric region 0.0%
striatum 0.56% (3 of 537)
sublingual gland 0.0%
submandibular gland 1.57% (2 of 127)
testis 0.92% (5 of 541)
thymus 0.18% (1 of 554)
thyroid gland 2.87% (16 of 558)
tongue 4.17% (5 of 120)
trachea 0.55% (3 of 544)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.19% (15 of 358)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

13 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Adam26a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adam26a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Pseudohypoparathyroidism Type 2
Pseudohypoparathyroidism, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic te... ORPHA:94090
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Decreased circulating T4 level, Hyperphosphatemia, Elevate... ORPHA:94086
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Morbid Obesity And Spermatogenic Failure
Infertility, Insulin resistance, Hypercholesterolemia, Azoospermia, Oligospermia, Hypertriglyceri... OMIM:615703
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hypoparathyroidism, Hyperphosphatemia, Decreased circulating parathyroid hormone level OMIM:146200
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Parathyroid agenesis, Hypocalcemia, Hyperphosphatemia, Male infertility, H... ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:603233
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Cryptorchidism, Micropenis, Adrenal hypoplasia, Decreased response to growth hormo... OMIM:614732
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Hypoplasia of penis, ... ORPHA:181393
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Decreased circul... OMIM:601198
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Cryptorchidism, Micropenis, Hypocalcemia, Hyperphosphatemia, Decreased res... OMIM:241410
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hyperparathyroidism 4
Parathyroid carcinoma, Primary hyperparathyroidism, Hypercalcemia OMIM:617343
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemic tetany, Elevated circul... OMIM:612462
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Goiter, Abnormal penis morphology, Abnormal calcium-p... ORPHA:457059
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hypercalcemia ORPHA:2123
Multiple Myeloma
Hyperproteinemia, Pleural effusion, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Dyspnea, Diabetes mellitu... ORPHA:90041
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Type II diabe... ORPHA:481
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Dyspnea, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune ... ORPHA:36913
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemic tetany, Elevated circul... OMIM:103580
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Hypogonadism ORPHA:163693
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism, Hypocalcemic seizures, Pituitary resistance to thyroid hormone, Hypocal... ORPHA:94089
Lipodystrophy, Congenital Generalized, Type 3
Primary amenorrhea, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hy... OMIM:612526
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hyperphosphatemia, Hyper... OMIM:617994
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Hypertriglyceridemia, Maturity-onset diabetes of the young,... OMIM:616222
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia, Bronchiectasis OMIM:241600
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Azotemia, Familial
Azotemia OMIM:109160
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Parathyroid adenoma, Primary hyperparathyroidism, Elevate... ORPHA:99879
Sanjad-Sakati Syndrome
Cryptorchidism, Hypocalcemia, Hypoplasia of penis, Hypoparathyroidism, Hyperphosphatemia, Congeni... ORPHA:2323
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia ORPHA:2668
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Glycosuria OMIM:614817
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Apnea, Hypoproteinemia, Respiratory insufficiency OMIM:608093
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy OMIM:313200
Calciphylaxis
Hyperphosphatemia, Secondary hyperparathyroidism ORPHA:280062
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galac... ORPHA:79237
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Cryptorchidism, Micropenis, Hypoalbuminemia,... OMIM:617575
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Thymic Neuroendocrine Tumor
Hypercalcemia, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Abnormal breath sound, ... ORPHA:97289
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Preeclampsia
Type I diabetes mellitus, Elevated circulating creatinine concentration, Polycystic ovaries ORPHA:275555
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Neonatal respiratory distress OMIM:256300
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hypercalcemia, Parathyroid adenoma, Pancreatic adenocarcinoma, Hurthle cel... OMIM:145001
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia, Elevated circulating parathyroid hormone level OMIM:619073
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemic rickets, Parathyroid hyperplasia, Hyperparathyroidism, Hypophosph... OMIM:612089
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Congenital Generalized Lipodystrophy
Increased C-peptide level, Precocious puberty in females, Insulin resistance, Polycystic ovaries,... ORPHA:528
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
46,Xy Sex Reversal 4
Hypoplastic labia majora, Elevated circulating creatinine concentration, Increased blood urea nit... OMIM:154230
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hypophosphatasia
Emphysema, Respiratory insufficiency, Hypercalcemia ORPHA:436
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Hyperuricemia, Insu... OMIM:604367
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Hypoplasia of penis, Delayed puberty, Abnormality of the endo... ORPHA:633
Addison Disease
Primary adrenal insufficiency, Hypoglycemia, Hashimoto thyroiditis, Thymoma, Premature ovarian in... ORPHA:85138
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
Rhabdoid Tumor
Respiratory insufficiency, Hypercalcemia ORPHA:69077
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Hypercholesterolemia ORPHA:254531
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Dyspnea, Elevated circulating C-reactive protein concentration, El... ORPHA:231111
Alpha-Heavy Chain Disease
Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Lethal Erythroderma
Respiratory insufficiency, Hypoalbuminemia ORPHA:1954
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Hashimoto thyroiditis, Graves disease, Decreased circu... ORPHA:199299
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Miscarriage, Hypoalbuminemia, Increased al... ORPHA:86816
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism, Hypocalcemic seizures, Pituitary resistance to thyroid hormone, Hypocal... ORPHA:79444
Oculoskeletodental Syndrome
Cryptorchidism, Hypocalcemia, Hypercalcemia, Hypothyroidism OMIM:618440
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Dent Disease 2
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypophosphatemia OMIM:300555
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Cryptorchidism, Congenital hypothyroidism, Hyperphosphatemia, Elevated ci... OMIM:101800
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... OMIM:606176
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Tachypnea, Primary hyperparathyroidism, Dyspnea, Aminoaciduria, Calcinosis, Elevat... OMIM:239200
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Adenoma sebaceum, Hypercalcemia, Thyroid adenoma, Pituitary prolactin cell adenoma,... OMIM:131100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Pneumonia, Hypocalcemia, Tachypnea, Episodic tachypnea, Elevated circulating cre... ORPHA:26793
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Cryptorchidism, Hypocalcemia, Congenital hypothyroidism, Hyperphosphate... ORPHA:280651
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Cystinuria, Hypocalcemia, Hypergonadotropic hypogonadism, Decreased respon... OMIM:606407
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Bronchiectasis, Cough OMIM:619468
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany, Abnormal circulating follicle-stim... ORPHA:93325
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Hyperkalemia, Tachypnea, Elevated creatine kinase after exercise, Hyperphosphatemia ORPHA:423
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Azoosper... OMIM:235200
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia OMIM:239000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Fanconi Renotubular Syndrome 5
Emphysema, Glycosuria, Hypophosphatemic rickets, Aminoaciduria, Decreased DLCO, Hypophosphatemia OMIM:618913
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ovotestis, Hypercholesterolemia, External genital hypoplasia, Hypertriglyceridemia, Ambiguous gen... OMIM:610644
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Pulmonary embolism, Hyperuricemia, Elevated circulating... ORPHA:94093
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Hyponatremia, Cryptorchidism, Hypocalcemia, Pleural effusion, Hypertriglyceridemi... OMIM:618183
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypoproteinemia, Abnormal vagina morphology, Hypoplasia of p... ORPHA:2315
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hyponatremia, Decreased female libido, Hypercalcemia, Increased ci... ORPHA:95409
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Restrictive ventilatory defect, Hypopituitarism, Cough, Hypoalbuminemia, Hypertri... OMIM:619013
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Hypoalbuminemia OMIM:608104
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hypergonadotropic hypogonadism, Male hypogonadism, Hyperglycemia OMIM:307500
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Hyperuricemia, Diabetes m... ORPHA:77296
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Cryptorchidism, Micropenis, Hypocalcemia, Pancreatic lymphangiectasis, Thyroid l... OMIM:235255
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasting hypoglycemia, Hy... ORPHA:2298
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia, Insulin resistance... ORPHA:230
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Parathyroid adenoma, Hypercalcemia, Hypermagnesemia OMIM:145980
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Precocious puberty, Hypercholesterolemia ORPHA:96184
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Cholesteryl Ester Storage Disease
Adrenal calcification, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Cryptorchidism, Micropenis, Hypocalcemia, Vaginal atresia, Pancreatic lymphangie... ORPHA:1655
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Pseudohypoparathyroidism Type 1A
Pseudohypoparathyroidism, Hypocalcemic seizures, Pituitary resistance to thyroid hormone, Hypocal... ORPHA:79443
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Delayed puberty, Hypercalcemia ORPHA:251004
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Hypercalcemia ORPHA:94080
Infantile Myofibromatosis
Hypercalcemia, Neoplasm of the pancreas ORPHA:2591
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Pneumonia OMIM:603554
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Hypophosphatemia, Glycosuria OMIM:613388
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hypoparathyroidism, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hypouricemia, Aminoaciduria, Diabetes mellitus, Hypophosphatemia OMIM:616026
Hypophosphatasia, Infantile
Apnea, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Primary hyperparathyroidism, Hypercalcemia OMIM:145981
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Respiratory distress OMIM:616733
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hypoproteinemia, Pneumonia, Hypoalbuminemia OMIM:226300
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Respiratory paralysis, Adrenocortical aden... ORPHA:681
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration, Hypoalbuminemia, Dec... ORPHA:79320
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Pleural effusion, Hypoalbuminemia, Hypomagnesemia ORPHA:90362
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Primary hyperparathyroidism, Hypercalcemia OMIM:600740
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Hyperthyroidism, Elevated circ... ORPHA:249
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Dengue Fever
Hypoproteinemia, Cardiorespiratory arrest, Epistaxis ORPHA:99828
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypoalbuminemia OMIM:618347
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Abnormal pattern of respiration ORPHA:428
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypophosphatemia, Hypercalcemia OMIM:156400
Coach Syndrome 2
Apneic episodes in infancy, Elevated circulating creatinine concentration OMIM:619111
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:308990
Timothy Syndrome
Hypocalcemia, Hypoglycemia, Pneumonia, Hypothyroidism OMIM:601005
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Irregular menstruation, Fasting hypoglycemia, Polycystic ovaries, Hyperchol... ORPHA:79240
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Testicular neoplasm, Infantile hypercalcemia, Primary hyperparathyroidism, Parathy... ORPHA:99880
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Pulmonary embolism, Hypoalbuminem... ORPHA:567548
Fanconi Renotubular Syndrome 1
Glycosuria, Aminoaciduria, Hypokalemia, Hypophosphatemia OMIM:134600
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Testicular neoplasm, Infantile hypercalcemia, Primary hyper... ORPHA:143
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level, Decreased circ... ORPHA:157215
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Glycosuria, Elevated circulating creatinine concentration, Pancreatic hypoplasia... OMIM:137920
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Leptospirosis
Hyperproteinemia, Pleural effusion, Cough, Respiratory distress ORPHA:509
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Acute Interstitial Pneumonia
Nonproductive cough, Hypoxemia, Elevated circulating creatinine concentration, Crackles, Tachypne... ORPHA:79126
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Hypertriglyceride... ORPHA:2088
Vipoma
Hypokalemia, Hypercalcemia, Abnormality of the thyroid gland, Parathyroid adenoma, Primary hyperp... ORPHA:97282
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hypouricemia, Hypophosphatemia OMIM:227810
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Hypercholesterolemia, Reduced radio... ORPHA:90674
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Abnormal bronchus physiology OMIM:209950
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hashimo... ORPHA:49041
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Dyspnea ORPHA:54057
Alg1-Cdg
Respiratory failure, Hypoalbuminemia ORPHA:79327
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Fasting hypoglycemia, Polycystic ovaries, Hypercholesterolemia, Dysmenorr... ORPHA:370
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Hypercalcemia, Adrenocortical carcinoma, Neuroendocrine neo... ORPHA:913
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Monosomy 13Q34
Epistaxis, Infantile hypercalcemia, Insulin resistance, Metrorrhagia ORPHA:96168
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemic tetany ORPHA:93324
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hypoglycemia, Fasting hypoglycemia, Polycystic ovaries, Hypercholesterole... ORPHA:264580
Cystinosis
Hypokalemia, Hypothyroidism, Delayed puberty, Aminoaciduria, Nephrogenic diabetes insipidus, Hypo... ORPHA:213
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Nephronophthisis 2
Hyperkalemia, Respiratory failure, Elevated circulating creatinine concentration, Respiratory ins... OMIM:602088
Mody
Glycosuria, Neonatal hypoglycemia, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Ab... ORPHA:552
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, El... ORPHA:90060
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Somatostatinoma
Hypercalcemia, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Parathyroid adenoma... ORPHA:97283
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, ... OMIM:151660
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Crackles, Tachypnea, Elevated circulating creatine kinase concentrati... ORPHA:466650
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Infertility, Hypothy... ORPHA:465508
Familial Isolated Hypoparathyroidism
Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Hypoparathyroidism ORPHA:2238
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Respiratory distress OMIM:274150
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Refractory Anemia With Excess Blasts
Exertional dyspnea, Abnormal circulating albumin concentration, Abnormal circulating protein conc... ORPHA:86839
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adre... ORPHA:276621
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Mastocytosis
Asthma, Respiratory insufficiency, Cough, Hypercalcemia ORPHA:98292
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Hypoalbuminemia... ORPHA:2070
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Cryptorchidism, Micropenis, Hypocalcemia, Hypospadias OMIM:607143
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Mccune-Albright Syndrome
Abnormal endocrine physiology, Decreased fertility, Irregular menstruation, Goiter, Increased ser... ORPHA:562
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Dyspnea, Hyperbilirubinemia, Hypoalbumine... ORPHA:88673
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Elevated circulating creatinine concentration, Hyperkalemia, Respiratory failure, Coug... ORPHA:340
Ppoma
Cholelithiasis, Intestinal carcinoid, Hypercalcemia, Abnormality of the thyroid gland, Primary hy... ORPHA:97278
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia, Hyperuricosuria ORPHA:94088
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Increased serum bile acid concentration, Hypercholesterolemia, Bile d... OMIM:619662
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Wolcott-Rallison Syndrome
Hypothyroidism, Hyponatremia, Central hypothyroidism, Hyperbilirubinemia, Neonatal insulin-depend... ORPHA:1667
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Pulmonary embolism, Pleural effusion, Dyspnea, Hypoalbuminemia, Hydrocele testis ORPHA:567546
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Decreased plasma total carnitine, Elevated circulating creatinine concentration, No... OMIM:608836
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Elevated circulating C-reactive protein con... ORPHA:454836
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypochloremia, Increased circulating renin level, Hypercalcemia, Increased serum pro... OMIM:601678
Leishmaniasis
Rhinitis, Hypoalbuminemia ORPHA:507
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia, Central apnea ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Central apnea, Hypoalbuminemia ORPHA:529799
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia ORPHA:2089
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple, Restrictive ventilatory defect, Elevated circulating creatinine concentration OMIM:614376
Grfoma
Cholelithiasis, Intestinal carcinoid, Hypercalcemia, Abnormality of the thyroid gland, Primary hy... ORPHA:97261
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Glucagonoma
Hypercalcemia, Abnormality of the thyroid gland, Parathyroid adenoma, Primary hyperparathyroidism... ORPHA:97280
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Sickle Cell Anemia
Hypoxemia, Unconjugated hyperbilirubinemia, Pigment gallstones, Elevated circulating creatinine c... ORPHA:232
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Central sleep apnea, Precocious puberty, Hypoparathyroidism, Obstructive sleep apn... ORPHA:369837
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Micropenis, Asthma, Male hypogonadism, Bilateral cryptorchidism OMIM:619471
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Decreased sensitivity to hypoxemia, Elevated circulating creatinin... OMIM:223900
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Cardiorespiratory arre... ORPHA:31824
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Respiratory failure, Elevated circulating creatine kinas... ORPHA:88618
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypophosphatemia, Hypocalcemia ORPHA:93160
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Increased blood urea nitrogen ORPHA:90321
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Respiratory failure, Hypoalbuminemia, Respiratory insuffic... OMIM:618329
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adre... ORPHA:29072
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemic seizures, Secondary hyperparathyroidism, Elevated circula... OMIM:264700
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hypothyroidism, Hyponatremia, Elevated circulating creatinine concentrat... ORPHA:411634
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Tachypne... ORPHA:173
Dysbetalipoproteinemia
Hypothyroidism, Hypercholesterolemia, Xanthelasma, Diabetes mellitus, Hypertriglyceridemia, Incre... ORPHA:412
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Hypercalcemia, Medullary thyroid carcinoma, Paraganglioma of head and... ORPHA:653
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia ORPHA:469
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaci... OMIM:619055
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Elevated circulating creatinine concentration, Tachypnea, Respiratory failure, Pleural... ORPHA:542323
Aapoaiv Amyloidosis
Chronic pulmonary obstruction, Hyperlipidemia, Elevated circulating creatinine concentration, Dia... ORPHA:439232
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Hypoparathyroidism, Hypothyroidism ORPHA:1563
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Intestinal carcinoid, Abnormal circulating aldosterone, Pul... ORPHA:652
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Hypocalcemia, Secondary hyperparathyroidism, El... ORPHA:289157
Gracile Bone Dysplasia
Micropenis, Hypocalcemia OMIM:602361
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholesterol gallstones, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperchole... ORPHA:209902
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypocalcemic seizures, Septate vagina, Uterus didelphys, Hypocalcemia, Vag... ORPHA:2237
Hypophosphatemic Rickets
Hypercalcemia, Hyperthyroidism, Precocious puberty, Parathyroid hyperplasia, Hyperparathyroidism,... ORPHA:437
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism OMIM:244460
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hypoalbuminemia, Premature ovarian insufficiency, Hypocholesterolemia, Hypergonad... OMIM:212065
Bacterial Toxic-Shock Syndrome
Sinusitis, Pneumonia, Elevated circulating creatinine concentration, Hypocalcemia, Tachypnea, Ele... ORPHA:36234
Congenital Enterovirus Infection
Respiratory distress, Hypoalbuminemia, Pleural effusion, Hyperammonemia ORPHA:292
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hypoglycemia, Hyperuricosuria, Bicarbonaturia... ORPHA:3337
Smith-Magenis Syndrome
Hypothyroidism, Hypercholesterolemia, Precocious puberty, Hypertriglyceridemia, Delayed puberty ORPHA:819
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse ... ORPHA:79102
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:278000
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemic seizures, Secondar... OMIM:277440
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Alg12-Cdg
Recurrent pneumonia, Hyponatremia, Chronic rhinitis, Cryptorchidism, Micropenis, Recurrent hypogl... ORPHA:79324
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Respiratory failure, Hypoparathyroidism, Hypoketotic hypoglycemia, Respiratory insu... ORPHA:746
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Lesch-Nyhan Syndrome
Hyperuricosuria, Hyperuricemia, Testicular atrophy OMIM:300322
Amoebiasis Due To Entamoeba Histolytica
Pleural effusion, Cough, Dyspnea, Hypoalbuminemia, Pleural empyema ORPHA:67
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Respiratory distress, Hypoalbuminemia ORPHA:367
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Irregular menstruation, Hyperlipidemia, Hypoglycemia, Polycystic ovaries, Hyperch... ORPHA:79259
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Euthyroid goiter, Hashimoto thyroiditis, Abno... ORPHA:64744
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Pleural effusion, Hy... ORPHA:167
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Pneumonia, Abnormal blood ion concentration, Hypocalcemia, Hyperthyroidism, Inter... ORPHA:37042
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Abnormal circulating serine concentration, Hyperlys... ORPHA:470
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Increased C-peptide level, Hypothyroidism, Fasting hypoglycem... ORPHA:769
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Hypoalbuminemia OMIM:610965
X-Linked Agammaglobulinemia
Sinusitis, Hypocalcemia, Recurrent pneumonia ORPHA:47
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Ami... ORPHA:411629
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hyp... OMIM:229600
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Decreased serum iron, Increased blood urea nitrogen, Pulmonary embolism, Dyspnea, Imp... ORPHA:447
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Dent Disease 1
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:300009
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Thyroid lymphangiectasia, Pleural effusion, Hypoalbuminemia OMIM:235510
Megalocornea-Mental Retardation Syndrome
Primary hypothyroidism, Hypercholesterolemia OMIM:249310
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Double Outlet Right Ventricle
Hypocalcemia, Hypoparathyroidism, Tachypnea, Aplasia/Hypoplasia of the thymus ORPHA:3426
Aicardi-Goutieres Syndrome 9
Micropenis, Hypothyroidism, Hypoalbuminemia OMIM:619487
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Micropenis, Hypocalcemia, Hyperbilirubinemia, Respiratory ins... ORPHA:163979
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Long penis, Ovarian cy... OMIM:246200
Al Amyloidosis
Nonproductive cough, Abnormal salivary gland morphology, Dyspnea, Obstructive sleep apnea, Autono... ORPHA:85443
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Small scrotum, Hypoglycemia, Bile duct proliferation, Hypocalcemia, Tachypnea, Respira... OMIM:613658
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Marburg Hemorrhagic Fever
Nonproductive cough, Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Or... ORPHA:99826
Mitchell-Riley Syndrome
Absent gallbladder, Pancreatic hypoplasia, Hyperbilirubinemia, Annular pancreas, Hyperglycemia OMIM:615710
Mandibuloacral Dysplasia With Type B Lipodystrophy