Gene Summary

Name:
NADH:ubiquinone oxidoreductase core subunit S1
Synonyms:
9930026A05Rik,  5830412M15Rik

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
increased circulating calcium level Ndufs1tm1b(EUCOMM)Hmgu HET   Early adult 5.60×10-05
abnormal vitreous body morphology Ndufs1tm1b(EUCOMM)Hmgu HET   Early adult 9.95×10-06
decreased vertical activity Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 2.75×10-05
decreased circulating triglyceride level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 1.77×10-06
increased circulating phosphate level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 9.53×10-09
increased circulating lipase level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 3.44×10-06
preweaning lethality, complete penetrance Ndufs1tm1b(EUCOMM)Hmgu HOM   Early adult 4.24×10-05
increased circulating sodium level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.51×10-07
abnormal lens morphology Ndufs1tm1b(EUCOMM)Hmgu HET   Early adult 4.30×10-07
increased circulating creatinine level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 5.32×10-06
decreased locomotor activity Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.78×10-07
decreased total retina thickness Ndufs1tm1b(EUCOMM)Hmgu HET   Early adult 7.47×10-05
cataract Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.91×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Penis  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 2)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Urinary bladder  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 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)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Striatum 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)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland 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 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ndufs1 mutations

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

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

The table below shows human diseases associated to Ndufs1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Ataxia, Lethargy OMIM:618226
Isolated Complex I Deficiency
Increased serum pyruvate, Optic neuropathy, Ataxia, Lethargy, Optic disc pallor ORPHA:2609

The table below shows human diseases predicted to be associated to Ndufs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:146200
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:36913
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Adamantinoma
Hypercalcemia ORPHA:55881
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Falls OMIM:615883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:94089
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia OMIM:612462
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Developmental catar... OMIM:127000
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529799
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Hypercalcemia, Infantile, 1
Hypercalcemia, Lethargy OMIM:143880
Genetic Recurrent Myoglobinuria
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Retinal degeneratio... OMIM:239000
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Retinopathy, Hypophosphatemia, Cataract, Abnormal cornea morphol... ORPHA:2611
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Hypo... OMIM:610600
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Angioid streaks of the fundus, Conjunctival whitish salt-like deposits, Hypercalcemia... OMIM:211900
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Tip-toe gait, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Central Diabetes Insipidus
Hyponatremia, Lethargy ORPHA:178029
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Hyponatremia, Cataract OMIM:620157
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Developmental cataract ORPHA:557003
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity ORPHA:2323
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Retinal calcification, Papilledema, Developmental cataract, Hypocalcemic t... ORPHA:93325
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614307
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Unsteady gait, Cataract OMIM:620312
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals, Abnormal retinal morphology OMIM:219750
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreon... OMIM:204000
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Tip-toe gait, Elevated circulating creatine kinase concentration, Gait disturbance OMIM:617404
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:177735
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Lethargy OMIM:620423
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Ataxia ORPHA:163921
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 42
Cataract, Developmental cataract OMIM:115900
Alg8-Cdg
Optic atrophy, Retinopathy, Hyponatremia, Ataxia, Cataract ORPHA:79325
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypophosphatasia
Hypercalcemia ORPHA:436
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Cystinosis
Hypokalemia, Corneal opacity, Gait disturbance, Retinopathy, Hypophosphatemia, Aminoaciduria ORPHA:213
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Non-Functioning Paraganglioma
Hypertensive retinopathy, Hypercalcemia ORPHA:94080
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ... ORPHA:682
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hyponatremia, Cataract, ... OMIM:617913
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Pheochromocytoma
Hypercalcemia, Hypertensive retinopathy, Developmental cataract OMIM:171300
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism OMIM:264350
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Developmental cataract OMIM:618440
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ... ORPHA:90050
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:428
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, H... ORPHA:79444
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Loss of ambulation, Cataract, Retinal degeneration, Rod-cone... OMIM:204200
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Band keratopathy, Hypocalcemic tetany, Conjuncti... ORPHA:79443
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Hypercalcemia OMIM:171420
Familial Dysautonomia
Optic atrophy, Corneal erosion, Corneal opacity, Heterochromia iridis, Gait disturbance, Hyponatr... ORPHA:1764
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid macular edema, ... OMIM:611040
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Dent Disease 2
Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract, Inability to walk, Ataxia, Elevated circulating creatine kinase concentration OMIM:615350
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Lethargy ORPHA:199299
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macular dystrophy, Hypercalcemia, Abnormal retinal morphology on m... ORPHA:251004
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Papilledema, Elevated circulating creatinine concentration OMIM:620366
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atr... ORPHA:414
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level OMIM:614736
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia, Blue irides OMIM:101800
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Rabin-Pappas Syndrome
Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Hyponatremia, Cataract OMIM:620155
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia, Glucocortocoid-insensitive primary... ORPHA:171876
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Spastic gait, Abnormal circulating cholesterol concentration, Limb dysmetria, Cata... OMIM:270800
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Cataract, Lethargy ORPHA:469
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Lethargy, Increased circulating renin level ORPHA:427
C3 Glomerulopathy
Elevated circulating creatinine concentration, Drusen, Yellow/white lesions of the retina, Centra... ORPHA:329918
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level ORPHA:199296
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Corneal crystals, Hypophosphatemia, Hypoca... ORPHA:411634
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hyperaldosteronism OMIM:214700
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Aica-Ribosiduria Due To Atic Deficiency
Optic atrophy, Hyponatremia OMIM:608688
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Truncal ataxia, Waddling gait, Cataract, Abnormal circulating creatine kinase... ORPHA:369840
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Vitreous hemorrhage, Chorioretinal atroph... ORPHA:891
Prune1-Related Neurological Syndrome
Optic atrophy, Inability to walk, Elevated circulating creatine kinase concentration, Retinopathy... ORPHA:544469
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia, Astigmatism, Lethargy ORPHA:97362
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Waddling gait, Hypophosphatemia, Increased circulating beta-C-terminal ... ORPHA:157215
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hyperphos... ORPHA:466650
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum... OMIM:603553
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypomagnesemia 3, Renal
Astigmatism, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentrati... OMIM:248250
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Elevated circulating creatinine concentration, Attenuation of retinal blood vessels OMIM:614376
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Ataxia, Retinal dystrophy ORPHA:3156
Coach Syndrome 2
Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Papillorenal Syndrome
Retinal detachment, Macular degeneration, Lens luxation, Chorioretinal atrophy, Retinal coloboma,... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, C... OMIM:615181
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Acute Adrenal Insufficiency
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Decreased circulati... ORPHA:95409
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Hyperamylasemia, Hypokalemia OMIM:604278
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Tip-toe gait, Retinal dystrophy, Gait ataxia, Elevated circulating phytanic acid c... OMIM:614877
Muscle-Eye-Brain Disease
Optic atrophy, Gait disturbance, Elevated circulating creatine kinase concentration, Cataract ORPHA:588
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Lethargy ORPHA:173
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Retinal capillary hemangioma, Hypercalcemia, Aniridia ORPHA:29072
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Ataxia OMIM:614879
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Hypercalcemia ORPHA:276621
Fibrous Dysplasia Of Bone
Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait, Increased circulating cortiso... ORPHA:249
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Elevated circulating creatine kinase concentration, Optic neuropathy, Hyperammonem... OMIM:610505
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Hypophosphatemia OMIM:308990
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Infant Botulism
Mydriasis, Hyponatremia, Keratoconjunctivitis sicca ORPHA:178478
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Difficulty walking, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia OMIM:264700
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Gait ataxia ORPHA:476126
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Macular degeneration, Truncal ataxia, Progressive gai... ORPHA:284289
Alport Syndrome 3A, Autosomal Dominant
Lenticonus, Azotemia, Hypophosphatemia, Anterior polar cataract OMIM:104200
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Infantile Nephropathic Cystinosis
Hypokalemia, Corneal crystals, Hypophosphatemia, Abnormal blood ion concentration, Abnormal corne... ORPHA:411629
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Ataxia, Cataract, Retinal degeneration, Rod-con... OMIM:266500
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Lissencephaly 8
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract OMIM:617255
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia, Difficult... OMIM:241530
Infantile Refsum Disease
Optic atrophy, Elevated circulating phytanic acid concentration, Ataxia, Cataract, Rod-cone dystr... ORPHA:772
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level OMIM:300200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Snakebite Envenomation
Hyponatremia ORPHA:449285
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia, Broad-based gait OMIM:618805
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Addison Disease
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Decreased circulati... ORPHA:85138
Isolated Atp Synthase Deficiency
Optic atrophy, Hyperalaninemia, Hyperammonemia, Ataxia, Cataract, Rod-cone dystrophy, Lethargy ORPHA:254913
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Ataxia, Cataract, Rod-cone dystrophy, Dysmetria OMIM:612674
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism OMIM:613090
Hypophosphatemic Rickets, X-Linked Dominant
Waddling gait, Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphat... OMIM:307800
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:606069
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Astigmatism, Hypercalcemia ORPHA:369837
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Inability to walk, Hypoproteinemia, Gait disturbance, Hyponatremia, Iris hy... ORPHA:167
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Cystinosis, Nephropathic
Recurrent corneal erosions, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, D... OMIM:219800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia, Steatorrhea OMIM:605911
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Hartsfield Syndrome
Hypernatremia OMIM:615465
Fanconi Renotubular Syndrome 1
Aminoaciduria, Hypophosphatemia, Hypokalemia OMIM:134600
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Necrotizing Enterocolitis
Hyponatremia, Lethargy ORPHA:391673
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan... OMIM:609049
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Albers-Schönberg Osteopetrosis
Optic atrophy, Hypocalcemia ORPHA:53
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Legionnaires Disease
Hyponatremia, Ataxia ORPHA:549
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Hypophosphatemia OMIM:616026
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Ataxia, Elevated circulating creatine kinase concentration, Pigmentary retinopathy ORPHA:79095
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Tip-toe gait, Lethargy, Pigmentary retinopathy ORPHA:746
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Difficulty walking, Hypophosphatemia OMIM:277440
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia, Decreased circulating cortisol level ORPHA:90791
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Broad-based gait, Attenuation of retinal ... OMIM:609033
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Lethargy, Hypocalcemia OMIM:607143
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Whipple Disease
Hyponatremia, Ataxia ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level ORPHA:361
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hypouricemia, Hy... OMIM:227810
Pituitary Apoplexy
Mydriasis, Hyponatremia, Increased circulating cortisol level ORPHA:95613
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Ataxia, Hypocalcemia OMIM:618476
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Difficulty walking, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia ORPHA:289157
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:223900
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria OMIM:613388
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Astigmatism, Hypotriglycerid... OMIM:618885
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Alg12-Cdg
Retinal detachment, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia, Generalized aminoaciduria ORPHA:2088
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level ORPHA:90790
Pearson Syndrome
Steatorrhea, Hypokalemia, Hypocalcemia, Corneal stromal edema, Hyperalaninemia, Hypomagnesemia, H... ORPHA:699
Gracile Bone Dysplasia
Hypocalcemia, Aniridia OMIM:602361
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Iris atrophy, Heterochromia iridis, Chori... ORPHA:263479
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Cataract, Nuclear cataract, Hyperchol... ORPHA:79237
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Chor... OMIM:612109
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Microcornea, Corneal opa... ORPHA:899
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
X-Linked Agammaglobulinemia
Hypocalcemia, Conjunctivitis ORPHA:47
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Abnormal retinal vascular morphology, Eleva... ORPHA:247691
Intermediate Uveitis
Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V... ORPHA:279914
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar... OMIM:615986
Shigellosis
Abnormal blood ion concentration, Hyponatremia, Corneal ulceration, Conjunctivitis ORPHA:810
Vipoma
Hypercalcemia, Hypokalemia, Increased circulating cortisol level ORPHA:97282
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:247598
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95512
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Elevated circulating creatine kinase concentration, Retinal dystrophy ORPHA:370997
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Dysmetria OMIM:619780
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Hypokalemia, Corneal opacity, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, ... ORPHA:534
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Inability to walk, Ataxia, Conjugated hyperbilirubinemia, Cataract, Nuclear cataract OMIM:608885
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, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Alpha-aminoadipic aciduria, Gait ataxia, Ataxia, Loss of ambulation, Opto-chiasmat... OMIM:620089
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Somatostatinoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97283
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95513
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Timothy Syndrome
Hypocalcemia OMIM:601005
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia, Hype... ORPHA:89938
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Werner Syndrome
Cataract, Retinal degeneration, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hypocalcemia OMIM:259700
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Choroidal neovascularization, Iris nevus, Elevated circulating C-reactive pr... ORPHA:91500
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia, Hypokalemia OMIM:618426
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Glucagonoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97280
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism OMIM:602522
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Williams Syndrome
Abnormal circulating lipid concentration, Retinal arteriolar tortuosity, Gait imbalance, Corneal ... ORPHA:904
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hyponatremia, Hypercholesterolemia ORPHA:275761
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating renin level, ... ORPHA:168558
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Gait disturbance, Gait ataxia, Ataxia, Cataract, Rod-con... ORPHA:88628
Cataract 47
Cataract, Microcornea OMIM:612018
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Hypophosphatemia, Let... OMIM:229600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating renin level, ... ORPHA:289548
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Japanese Encephalitis
Hyponatremia, Choreoathetosis ORPHA:79139
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Holoprosencephaly
Optic atrophy, Retinopathy, Hyponatremia, Chorioretinal coloboma, Iris coloboma ORPHA:2162
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Hypocalcemia, Hyperbilirubinemia, Optic disc pallor OMIM:259720
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Ataxia OMIM:212750
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Retinal dystrophy OMIM:266900
Dent Disease
Cataract, Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Cerebrotendinous Xanthomatosis