Gene Summary

Name:
endothelin 2
Synonyms:
VIC,  vasoactive intestinal contractor peptide

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
preweaning lethality, complete penetrance Edn2tm1b(KOMP)Mbp HOM   Early adult 0.00

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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
Bone  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Duodenum  Wholemount images heterozygote 100% (4 of 4)
Epididymis  Wholemount images heterozygote Not available
Gall bladder  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images heterozygote 100% (4 of 4)
Jejunum  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 0.0% (0 of 4)
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote Not available
Parotid gland  Wholemount images heterozygote Ambiguous
Peyer's patch  Wholemount images heterozygote 100% (4 of 4)
Prostate gland  Wholemount images heterozygote Not available
Skin  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images heterozygote Ambiguous
Tongue  Wholemount images heterozygote Ambiguous
Trachea  Wholemount images heterozygote 0.0% (0 of 4)
Urinary bladder  Wholemount images heterozygote Ambiguous
Uterus  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Colon N/A heterozygote 100% (4 of 4)
Cranium N/A heterozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Ambiguous
Lymph node N/A heterozygote 0.0% (0 of 4)
Main olfactory bulb N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thalamus N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote Not available
Vascular system 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
Embryo N/A heterozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Ear N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 3)
Forearm N/A heterozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower leg N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Upper arm N/A heterozygote 0.0% (0 of 3)
Upper leg N/A heterozygote 0.0% (0 of 3)

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 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 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 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

102 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

6 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Edn2 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 Edn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hypoglycemia, Intrauterine growth retardation, Elevated lactate:pyruvate ratio, ... OMIM:245400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Recurrent respiratory infections, Short stature ORPHA:364
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hypochloremic metabolic alkalosis, Respiratory failure, Hyperuricemia, ... OMIM:613845
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Acute Interstitial Pneumonia
Hypoxemia, Elevated circulating creatinine concentration, Crackles, Tachypnea, Nodular pattern on... ORPHA:79126
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Thrombocytosis, Tachypnea, Cough, Fever, Hyperuricemia, Increased ser... ORPHA:134
Malignant Hyperthermia Of Anesthesia
Malignant hyperthermia, Hypercapnia, Hyperkalemia, Tachypnea, Elevated creatine kinase after exer... ORPHA:423
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidos... OMIM:615026
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Apneic episodes in infancy, Neonatal hypoglycemia, Fasting hypoglycemia, Episodic t... ORPHA:348
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Decreased plasma carnitine, Fever, Hyperuricemia, Anemia, Metabolic acidosis, Hyper... OMIM:246450
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea, Hyperinsulinemia OMIM:615363
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, ... ORPHA:95409
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Weight loss, Hashimot... ORPHA:199299
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Nonketotic hypoglycemia, Thrombocytosis, Recurrent hypoglycemia, Tachyp... ORPHA:20
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism, Hypercapnia, Reduced forced vital capacity, Reduced maximal inspiratory pressure,... ORPHA:505395
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, Hyperuricemia, D... ORPHA:77296
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Splenomegaly, Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Insu... ORPHA:79083
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorc... ORPHA:432
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Elevated circulating creatine kinase concentration, Short stature, Increased serum lactate OMIM:616209
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture, Hypoxemia, Elbow flexion contracture, Hypercapnia, Respiratory failure, Ankl... ORPHA:2020
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Alstrom Syndrome
Recurrent pneumonia, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Asthma, Hypergonadotro... OMIM:203800
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Increased serum lactate, Hyperalaninemia OMIM:618250
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Neonatal respiratory distress, Increased serum pyruvate, Increased serum lactate OMIM:619062
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Increased circulating androgen concentration, Hyperactive renin-an... ORPHA:90794
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Increased hematocrit, Polycythemia, Abnormality of the ... ORPHA:284227
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Pneumonia, Small for gestational age, Episodic tachypnea, Tachypnea, Hypocalcemi... ORPHA:26793
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Leukocytosis, Hypoxemia, Bronchial... ORPHA:1302
Addison Disease
Hypoglycemia, Primary adrenal insufficiency, Hashimoto thyroiditis, Thymoma, Adrenal calcificatio... ORPHA:85138
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Hypoxemia, Nocturnal hypoventilation, Hypercapnia, Apnea, Abnormality of tempera... OMIM:209880
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, ... ORPHA:3130
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Pneumonia, Hypoxemia, Incr... ORPHA:36238
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Oculopharyngodistal Myopathy 1
Restrictive ventilatory defect, Aspiration, Hypercapnia, Reduced forced vital capacity, Elevated ... OMIM:164310
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Lactic Acidosis, Chronic Adult Form
Chronic lactic acidosis, Hyperuricemia OMIM:150170
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Leukocytosis, Hypoxemia, Increased DLCO, Rest... ORPHA:90060
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased hematocrit, Elevated circulating erythropoietin concentration, Pu... OMIM:263400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Intrauterine growth retardation, Hyperuricemia, Neutropenia, Anemia, Short stature OMIM:617056
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... ORPHA:785
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Stress/infection-induced lactic acidosis, Intrauterine growth retardation, Small for gestational ... OMIM:618775
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Malignant Hyperthermia, Susceptibility To, 5
Fever, Hypercapnia OMIM:601887
Gaisböck Syndrome
Increased hematocrit, Hypercholesterolemia, Increased circulating renin level, Obesity, Increased... ORPHA:90041
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Metabolic acidosis, Ab... ORPHA:70578
Malignant Hyperthermia, Susceptibility To, 4
Acidosis, Malignant hyperthermia OMIM:600467
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, N... ORPHA:95717
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Splenomegaly, Growth delay, Failure to thrive, Hyperbilirubinemia, Lactic acidosis,... OMIM:251880
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Reduc... OMIM:613673
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Pulmonary embolism, Hypocalcemia, Fever... ORPHA:94093
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia ORPHA:510
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Fasting hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasm... ORPHA:159
Glycogen Storage Disease Vii
Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increa... OMIM:232800
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Thyroid defect in oxidati... ORPHA:95716
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... ORPHA:2235
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Fever, Dyspnea, Chronic lun... ORPHA:140896
Mitochondrial Complex I Deficiency, Nuclear Type 32
Metabolic acidosis, Respiratory insufficiency, Failure to thrive, Increased serum lactate OMIM:618252
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Neutropenia, Xanthelasma, Short stature, Lactic acid... OMIM:232220
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased hematocrit, Splenomegaly, Exertional dyspnea, Increased red blood... OMIM:133100
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Hypothyroidism, Hypercholesterolemia, Chroni... ORPHA:79259
Acute Liver Failure
Abnormal respiratory system physiology, Adrenal insufficiency, Hypoglycemia, Alkalosis, Abnormal ... ORPHA:90062
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Pleural effusion, Fever, Neutropenia, A... ORPHA:292
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Fa... ORPHA:264675
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia, Insulin resistance... ORPHA:230
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Increased serum pyruvate, Increased serum lacta... OMIM:300816
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma, Short stature, Lactic acidosis, Delayed... OMIM:232200
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Respiratory failure, Failure to thrive, Increased serum lactate, Lactic acidosis, H... OMIM:618329
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory failure, ... ORPHA:79138
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia OMIM:613092
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Anemia, Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:610090
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Metabolic acidosis, Tachypnea, Lactic acidosis, Hypothermia OMIM:616501
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Elevated lactate:pyruvate ratio, Hyperprolinemia, Neonatal respi... OMIM:619003
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Fev... OMIM:274150
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Cyanosis, Honeycom... OMIM:610921
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Congenital hypothyroidism, Decreased circulating T4 level, Elevated ci... ORPHA:226313
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Apneic episodes in infancy, Hypothermia OMIM:610006
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Fever, Dysp... ORPHA:231111
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Lat... ORPHA:2302
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Short stature, Restrictive ventilatory defect, Mildly elevated creatine kinase, Increased serum l... ORPHA:457050
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia, Hypothermia ORPHA:90026
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Hypoglycemia, Hypouricemia, Short stature, Diabetes mellit... OMIM:616026
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Juvenile Paget Disease
Short stature, Hyperuricemia ORPHA:2801
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Intrauterine growth retardation, Elevated circulating acylcarnitine concent... ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 39
Increased serum lactate, Flexion contracture, Intrauterine growth retardation, Arthrogryposis mul... OMIM:618397
Glycogen Storage Disease Ic
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Pulmonary arterial hypertension, Xanthelasma, Lactic... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 43
Elevated circulating creatine kinase concentration, Increased serum lactate, Intrauterine growth ... OMIM:618851
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Adrenocorticotropic hormon... ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Small for gestational age, Failure to thrive, Increased serum lactate, Lactic acido... OMIM:614702
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypoglycemia, Intrauterine growth retardation, Megaloblastic anemia, Pulmona... ORPHA:79282
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Cra... ORPHA:747
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Increased serum lactate, Decrea... OMIM:619048
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Increased serum lactate, Lactic acidosis, Respiratory distress, Meta... ORPHA:91130
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory failure, Elevated circu... ORPHA:178320
Distal 16P11.2 Microdeletion Syndrome
Obesity, Hyperuricemia ORPHA:261222
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Hypercholesterolemia, Reduced radio... ORPHA:90674
Fanconi-Bickel Syndrome
Glycosuria, Hypokalemia, Chronic acidosis, Reduced subcutaneous adipose tissue, Hypouricemia, Fai... OMIM:227810
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
Ethylene Glycol Poisoning
Cyanosis, Hyperkalemia, Hypocalcemia, Tachypnea, Abnormal pattern of respiration, Episodic respir... ORPHA:31826
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Interstitial Lung And Liver Disease
Hypothyroidism, Hypoxemia, Thrombocytosis, Intraalveolar phospholipid accumulation, Cough, Dyspne... OMIM:615486
Exercise-Induced Malignant Hyperthermia
Malignant hyperthermia, Hyperkalemia, Hypocalcemia, Crackles, Tachypnea, Hypocapnia, Elevated cir... ORPHA:466650
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Increased serum lactate, Respiratory distress, Respiratory insufficienc... ORPHA:238329
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Growth delay, Short stature, Adre... OMIM:307030
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Failure to thrive, Ketoacidosis, Aci... ORPHA:289504
Hereditary Fructose Intolerance
Growth delay, Reactive hypoglycemia, Hyperuricemia, Metabolic acidosis, Hypermagnesemia, Hypophos... ORPHA:469
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Autoimmune thrombocytopenia, ... OMIM:613179
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Hypoxemia, Elevated circula... ORPHA:232
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:3222
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Recurrent pneumonia, Sleep apnea, Obesity, Fever, Short stature, Hip contracture, Hypoventilation... OMIM:618493
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 44
Increased serum lactate OMIM:618855
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Failure to thrive, Hype... OMIM:229600
Developmental And Epileptic Encephalopathy 53
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617389
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Short stature, Goiter, Umbilical hernia, Hypothermia ORPHA:226292
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Spontaneous Periodic Hypothermia
Abnormal pattern of respiration, Hypothermia ORPHA:29822
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hyperuricemia, Failure to thrive, Short stature, Hydroxyprolinemia, Hyperphosphatemia OMIM:239000
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Increased circulating ferritin concentration, Sideroblasti... OMIM:600462
Adenosine deaminase, elevated, hemolytic anemia due to
Hyperuricemia, Elevated red cell adenosine deaminase level, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Epistaxis, Hyperuricemia ORPHA:35909
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Metabolic acidosis, Hypoglycemia, Increased serum lactate OMIM:615158
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Crackles, Tachypnea, Cong... OMIM:610978
Chronic Thromboembolic Pulmonary Hypertension
Reduced FEV1/FVC ratio, Increased HDL cholesterol concentration, Myeloproliferative disorder, Pul... ORPHA:70591
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Infertility, Primary amenorrhea, Delayed pu... ORPHA:2232
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Hypoplasia... OMIM:241080
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Increased serum lactate, Growth delay OMIM:617613
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Weight loss, Hypoxemia, Subpleural interstitial thickening, Crack... ORPHA:79128
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Meconium Aspiration Syndrome
Hypoxemia, Intrauterine growth retardation, Atelectasis, Pulmonary arterial hypertension, Neonata... ORPHA:70588
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Sleep apnea, Abnormal pattern of respiration, Hypothermia ORPHA:168593
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Metabolic acidosis, Hyperamylasemia, Respiratory failure, El... OMIM:619386
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Recurrent pneumonia, Growth delay, Bronchiectasis, Hypocapnia, Rec... ORPHA:980
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Hypoargininemia, Abnormal circulating tyrosine concentration, Metabolic acidosis, P... ORPHA:79096
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Elevated circulating creatinine concentration, Increased bloo... OMIM:223900
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Slc35A1-Cdg
Cellulitis, Pneumonia, Hypoxemia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granul... ORPHA:238459
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Increased serum lactate, Lactic acidosis, Respiratory dis... OMIM:614741
Pyruvate Dehydrogenase E1-Alpha Deficiency
Severe lactic acidosis, Small for gestational age, Chronic lactic acidosis, Increased serum lacta... OMIM:312170
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Growth delay, Hypoglycemia, Lactic acidosis, Increased serum lactate OMIM:616111
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Menkes Disease
Short stature, Decreased circulating ceruloplasmin concentration, Intrauterine growth retardation... OMIM:309400
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Severe lactic acidosis, Increased serum lactate, Increased serum pyruvate OMIM:616794
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Metabolic acidosis, Short stature, Adrenocort... ORPHA:408
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Restrictive ventilatory defect, Mildly elevated creatine kinase, Respiratory insu... ORPHA:663
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Metabolic acidosis, Respiratory failure, Intrauterine growth retardation OMIM:301021
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Decreased plasma carnitine, Elevated circulating creatine kinase concen... OMIM:500009
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Failure to thrive... OMIM:619046
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Flexion contracture, Methylmalonic acidemia, Growth delay, Recurrent respiratory in... ORPHA:17
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypokalemia, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets,... ORPHA:3337
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Increased serum lactate, Lactic acidosis, Pulmonary hypoplasia OMIM:614096
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Increased circulating thyroglobulin level, Impaired sensitivit... ORPHA:90673
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Intrauterine growth retardation, Metabolic acidosis, Respiratory insufficiency, Hyp... OMIM:618253
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Obesity, Episodic hemolytic anemia, Short stature, ... ORPHA:251004
Lesch-Nyhan Syndrome
Hyperuricosuria, Megaloblastic anemia, Hyperuricemia, Testicular atrophy, Short stature OMIM:300322
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Intermittent lactic acidemia, Growth delay, Failure to thrive, Shor... ORPHA:369
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Small for gestational age, Acidosis, Neutropenia, Increased serum lac... ORPHA:391673
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Increased serum lactate, Postprandial hyperglycemia OMIM:240600
Meningococcal Meningitis
Neonatal respiratory distress, Elevated circulating C-reactive protein concentration, Fever, Hypo... ORPHA:33475
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Abnormal circulating aldosterone, Failure to thrive in infancy, Increased circulati... ORPHA:171876
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Increased serum lactate OMIM:618951
Leigh Syndrome With Leukodystrophy
Anemia, Failure to thrive, Increased serum lactate, Apnea, Acidosis ORPHA:255241
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Fever, Failure to thrive, H... ORPHA:91359
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Decrea... ORPHA:226316
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intrauterine growth retardation, Asthma, Abn... ORPHA:2257
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Short stature, Increased serum lactate OMIM:614947
46,Xy Sex Reversal 4
Hypoplastic labia majora, Gonadal dysgenesis, Sex reversal, Hypergonadotropic hypogonadism, Hypop... OMIM:154230
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Enamel hypoplasia, Increased blood urea nitrogen, ... ORPHA:90321
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased serum lactate OMIM:619196
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Glycosuria OMIM:614817
Pulmonary Alveolar Microlithiasis
Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis, Cyanosis, Respiratory ... ORPHA:60025
Congenital Hypothyroidism
Sinusitis, Hypothyroidism, Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopit... ORPHA:442
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum pyruvate, Increased serum lactate OMIM:614055
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Dyspnea, Episodic respiratory distress, Failure to thrive, Low plasma citrulline, Hyperven... ORPHA:255210
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:609441
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Increased serum lactate, Lactic acidosis, Hyperalaninemia OMIM:617228
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Hyperalaninemia ORPHA:2597
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Dyspnea, Respiratory distress, Methemoglobinemia, Acidosis ORPHA:464453
Avian Influenza
Nonproductive cough, Leukopenia, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Thrombocyt... ORPHA:454836
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary ORPHA:110
Placental Insufficiency
Intrauterine growth retardation, Small for gestational age, Hypoxemia, Insulin resistance, Propor... ORPHA:439167
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Respiratory alkalosis, Tachypnea, Increased serum lactate, Lactic acidosis, Ketoaci... OMIM:615751
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Mitochondrial Myopathy With Lactic Acidosis
Increased serum pyruvate, Growth delay, Increased serum lactate, Lactic acidosis, Postnatal growt... OMIM:251950
Propionic Acidemia
Pancytopenia, Hypoglycemia, Metabolic acidosis, Tachypnea, Neutropenia, Anemia, Failure to thrive... OMIM:606054
Goodpasture Syndrome
Cyanosis, Restrictive ventilatory defect, Reticular pattern on pulmonary HRCT, Increased DLCO, In... OMIM:233450
Sengers Syndrome
Exercise-induced lactic acidemia, Growth delay, Increased serum lactate, Respiratory insufficienc... OMIM:212350
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Mitochondrial Complex I Deficiency, Nuclear Type 13
Metabolic acidosis, Apnea OMIM:618235
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Recurrent respiratory infections, Hyperuricemia, Hyperuricosuria ORPHA:411543
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Increased serum lactate, Lactic acidosis, Hyperalaninemia OMIM:616974
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Increased serum lactate, Lactic acidosis, Respiratory insufficie... OMIM:614654
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Paraganglioma, Increased hematocrit, Elevated circulating growth hormone co... ORPHA:100076
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Epilepsy, Early-Onset, Vitamin B6-Dependent
Metabolic acidosis, Apnea, Respiratory insufficiency OMIM:617290
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Increased serum lactate OMIM:545000
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Reduced C-peptide level, Ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618856
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Nonproductive cough, Hypokalemia, Leukopenia, Elevated circulatin... ORPHA:99826
Hyperglycinemia, Lactic Acidosis, And Seizures
Flexion contracture, Respiratory insufficiency, Growth delay, Increased serum lactate, Lactic aci... OMIM:614462
Mitochondrial Complex I Deficiency, Nuclear Type 34
Metabolic acidosis, Respiratory failure requiring assisted ventilation, Lactic acidosis, Intraute... OMIM:618776
Combined Oxidative Phosphorylation Deficiency 16
Increased serum lactate OMIM:615395
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Pyruvate Dehydrogenase E3 Deficiency
Elevated plasma branched chain amino acids, Hypoglycemia, Hyperisoleucinemia, Decreased plasma ca... ORPHA:2394
Developmental And Epileptic Encephalopathy 82
Short stature, Increased serum lactate, Hyperammonemia, Decreased body weight OMIM:618721
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hyperchloremic metabolic acidosis, Distal renal tubular acidosis... OMIM:611590
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia, Growth delay, Failure to thrive, Lactic acidosis, Hypogonadism ORPHA:163693
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Decreased circulating T4 level, Hyperphosphatemia, Elevate... ORPHA:94086
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Lactic acidosis, Arthrogryposis multiplex c... OMIM:615330
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Growth delay, Increased serum lactate, Lactic a... OMIM:613027
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Recurrent respiratory infections, Failure to thrive, Hyperactive reni... OMIM:264350
Hypomagnesemia 3, Renal
Failure to thrive, Renal tubular acidosis, Hypomagnesemia, Hyperuricemia OMIM:248250
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Hypercalcemia, Anemia, Short stature, Respiratory insuff... ORPHA:436
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Dyspnea, Failure to thrive, Increased serum lactate, Ketoacidosi... OMIM:614582
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Elevated circulating creatinine concentration, Respiratory failure, Tachypnea, Pleural... ORPHA:542323
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperprolinemia, Increased serum lactate, Lactic acidosis, Hyperalaninemia ORPHA:79246
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, A... ORPHA:1772
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Hyperlipidemia, Delayed puberty, Progressive ... ORPHA:77293
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hypothyroidism, Hyponatremia, Elevated circulating creatinine concentrat... ORPHA:411634
Acute Peripheral Arterial Occlusion
Acidosis, Leukocytosis ORPHA:90064
Sarcoidosis
Hypothyroidism, Diabetes insipidus, Increased T cell count, Anemia, Abnormality of the adrenal gl... ORPHA:797
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Increased serum lactate, Lactic acidosis, Ketoacidosis, Hyperammonemia, Episodic ketoacidosis OMIM:615453
Perrault Syndrome 5
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Hypergonadotropic h... OMIM:616138
Mitochondrial Complex I Deficiency, Nuclear Type 11
Metabolic acidosis, Failure to thrive, Increased serum lactate OMIM:618234
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Increased serum lactate OMIM:616277
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617069
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration, Lactic acidosis OMIM:207720
Cockayne Syndrome
Enamel hypoplasia, Severe short stature, Contractures of the large joints, Splenomegaly, Growth d... ORPHA:191
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Pyruvate Carboxylase Deficiency
Hypoglycemia, Increased serum pyruvate, Increased serum lactate, Lactic acidosis, Proximal renal ... OMIM:266150
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Decreased serum bicarbonate concentration, Hyperamylasemia, Growth delay, Hyperchlor... OMIM:604278
Coenzyme Q10 Deficiency, Primary, 3
Increased serum lactate OMIM:614652
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Ketoacidosis, Insulin resistance, Diabetes mellitus OMIM:612227
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal circulating pyruvate family amino acid concentration, Failure to thrive, Increased serum... ORPHA:255182
Hyperuricemia, Hprt-Related
Hyperuricemia, Hyperuricosuria OMIM:300323
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Hypoxemia, Intrauterine growth retardation, Reduced haptog... ORPHA:71275
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Short stature, Failure to thrive, Increased serum lactate, Lactic acidosis, Hyperammonemia OMIM:604273
Eisenmenger Syndrome
Cyanosis, Hypoxemia, Aortopulmonary window, Abnormal B-type natriuretic peptide level, Increased ... ORPHA:97214
Fanconi Renotubular Syndrome 5
Emphysema, Glycosuria, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis, Decreas... OMIM:618913
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Hyperuricosuria OMIM:300661
Hawkinsinuria
Metabolic acidosis, Failure to thrive, Hypothyroidism, Abnormal circulating tyrosine concentration ORPHA:2118
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Galactosemia I
Hypergalactosemia, Hyperchloremic metabolic acidosis, Increased level of galactitol in plasma, Fa... OMIM:230400
Lethal Ataxia With Deafness And Optic Atrophy
Respiratory failure requiring assisted ventilation, Abnormal erythrocyte enzyme level, Recurrent ... ORPHA:1187
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Hyperuricosuria ORPHA:411536
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Increased serum lactate, Metabo... OMIM:618958
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Short stature, Lactic acidosis,... OMIM:618120
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Failure to thrive, Increased serum lactate, Lactic acidosis, Hyperammonemia OMIM:614739
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617070
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Tachypne... ORPHA:173
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Irregular menstruation, Premature pubarche, ... ORPHA:90795
Combined Oxidative Phosphorylation Deficiency 38
Respiratory insufficiency, Failure to thrive, Increased serum lactate, Lactic acidosis OMIM:618378
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Renal Fanconi syndrome, Hyperuricemia, Diabetes mellitus, Abnormality of endocrin... ORPHA:93111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Intrauterine growth retardation, Small for gestational age, Increased serum ... ORPHA:79243
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Asthma, Abnormal circulating lipid concentration, Hyperthyroidism, Central adrena... ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Intrauterine growth retardation, Decreased circulating cortisol level, Elevated cir... OMIM:618838
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Growth delay, Failure to thrive, Respiratory insufficiency due to muscle we... OMIM:613561
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis, Respiratory insufficiency OMIM:618224
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Increased serum lactate, Lactic acidosis, Increased total bilirubin OMIM:616299
Mitochondrial Dna Depletion Syndrome 17
Acidosis, Low plasma citrulline, Hyperammonemia OMIM:618567
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Hyp... OMIM:618416
Combined Oxidative Phosphorylation Deficiency 1
Metabolic acidosis, Increased serum lactate, Intrauterine growth retardation, Elevated lactate:py... OMIM:609060
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Recurrent respiratory infections, Increased serum lactate OMIM:619063
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Failure to thrive in infancy, Respirato... ORPHA:6
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropic ... ORPHA:2965
Renal Cysts And Diabetes Syndrome
Glycosuria, Elevated circulating creatinine concentration, Hyperuricemia, Glucose intolerance, Di... OMIM:137920
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Short stature, Increased serum lactate, Lactic acidosis, Hypergl... OMIM:619059
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum lactate, Lactic acidosis, Respiratory distress OMIM:604377
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Intrauterine growth retardation, Decreased circulating cortisol level, Elevated cir... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Increased serum lactate, Lactic acidosis, M... OMIM:610678
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Intrauterine growth retardation, Decreased circulating cortisol level, Elevated cir... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia, Primary adrenal insufficiency, Failure to thrive, Lactic acidosis, Hy... OMIM:617872
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Growth delay, Neutropenia, Increased serum lactate, Apnea OMIM:617248
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Thyroid agenesis, Growth delay, Congenital hypothyroidism, Stridor, Hyperbilirubi... OMIM:218700
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Anemia, Increased serum lactate, Lactic acidosis, Thrombocytopenia OMIM:614946
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Elevated circulating creatine kinase concentration, Increased serum lactate, Small for gestationa... OMIM:619054
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Glycosuria, Leukopenia, Renal Fanconi syndrome, Decreased serum iron, Reduced hapto... ORPHA:447
Fanconi-Bickel Syndrome
Glycosuria, Renal tubular acidosis, Fasting hypoglycemia, Growth delay, Failure to thrive, Diabet... ORPHA:2088
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Pulmonary arterial hypertension, Increased serum lactate, Lactic... OMIM:619051
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Neonatal hypoglycemia, Intrauterine growth reta... ORPHA:71212
Alexander Disease
Hypothyroidism, Sleep apnea, Failure to thrive, Precocious puberty, Diabetes mellitus, Respirator... ORPHA:58
Mitochondrial Complex I Deficiency, Nuclear Type 12
Increased serum lactate OMIM:301020
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia ORPHA:391428
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Failure to thrive, Obstructive sleep apnea, Increased s... ORPHA:70472
Cystinuria
Hyperuricemia ORPHA:214
Pontocerebellar Hypoplasia, Type 6
Apnea, Failure to thrive, Increased serum lactate OMIM:611523
Tiglic Acidemia
Acidosis OMIM:275190
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Acidosis OMIM:204730
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Normocytic anemia, Increased blood urea nitrogen, ... ORPHA:49041
Coenzyme Q10 Deficiency, Primary, 7
Respiratory insufficiency, Increased serum lactate, Intrauterine growth retardation OMIM:616276
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Smal... ORPHA:79237
Sepsis In Premature Infants
Abnormal respiratory system physiology, Cyanosis, Decreased body weight, Leukocytosis, Small for ... ORPHA:90051
Combined Oxidative Phosphorylation Deficiency 48
Failure to thrive, Increased serum lactate, Lactic acidosis OMIM:619012
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Elevated circulating glutaric acid concentration, Respiratory distress,... OMIM:231680