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Gene: Zscan10 MGI:3040700

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Gene Summary

Name:
zinc finger and SCAN domain containing 10
Synonyms:
Zfp206,  Zscan10

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Zscan10tm2a(EUCOMM)Wtsi HET   Early adult 3.34×10-05
preweaning lethality, incomplete penetrance Zscan10tm2a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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Legacy Phenotype Associated Images
Zscan10tm2a(EUCOMM)Wtsi
HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
HET, Male, WTSI

View all 68 images

Zscan10tm2a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
right eye, HET, Female, WTSI
Zscan10tm2a(EUCOMM)Wtsi
cornea/lens fusion, HET, Female, WTSI
Zscan10tm2a(EUCOMM)Wtsi
left eye, HET, Female, WTSI
Zscan10tm2a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Female, WTSI

View all 7 images

Zscan10tm2a(EUCOMM)Wtsi
corpus callosum, decreased corpus callosum size, HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
corpus callosum, decreased corpus callosum size, HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
corpus callosum, decreased corpus callosum size, HET, Male, WTSI
Zscan10tm2a(EUCOMM)Wtsi
HET, Male, WTSI

View all 6 images

Zscan10tm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Zscan10 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 Zscan10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Cone-Rod Dystrophy, X-Linked, 2
Cone dystrophy, Cone/cone-rod dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Fever, Leukocytosis, Splenomegaly, Hepatosplenomeg... OMIM:209950
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent fever, Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, S... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... OMIM:615559
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Alpha-Heavy Chain Disease
Fever, Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Premature... ORPHA:100025
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Leishmaniasis
Recurrent fever, Increased circulating antibody level, Rhinitis, Hepatomegaly, Splenomegaly, Leuk... ORPHA:507
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Recurrent fever, Fever, Elevated... OMIM:616050
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Pancreatitis, Hepatomegaly, Microphthalmia, Microcytic anemia, Cataract, Hypoal... OMIM:618805
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Choles... ORPHA:172
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Increased circulating f... ORPHA:26793
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Myh9-Related Disease
Neutrophil inclusion bodies, Nephritis, Nephropathy, Congenital thrombocytopenia, Menorrhagia, In... ORPHA:182050
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased circulati... OMIM:618534
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 95
Respiratory distress, Recurrent fever, Lymphopenia, Increased circulating IgG3 level, Decreased c... OMIM:619773
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Lymphopenia, Decreased circulating IgG level, Hy... ORPHA:90362
Abetalipoproteinemia
Corneal ulceration, Ataxia, Hepatomegaly, Steatorrhea, Osteopenia, Reticulocytosis, Scotoma, Resp... ORPHA:14
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Inability to walk, Hepatomegaly, Enlarged kidney, Proteinuria, Bone marrow ... OMIM:617303
Immunodeficiency 105
Decreased circulating IgA level, Fever, Lymphopenia, Decreased circulating IgG level, Hepatosplen... OMIM:619924
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Difficulty walking, Jaundice, Double outlet righ... ORPHA:1667
Drug-Induced Lupus Erythematosus
Fever, Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decr... ORPHA:231111
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Tip-toe gait, Limited knee flexion/extension, Right ventricular hypertrophy, C... ORPHA:268
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Al Amyloidosis
Hepatomegaly, Autonomic erectile dysfunction, Renal interstitial amyloid deposits, Proteinuria, P... ORPHA:85443
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumonia, Hypoxemia... ORPHA:454836
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Congenital Enterovirus Infection
Respiratory distress, Hypothermia, Fever, Leukocytosis, Hyperammonemia, Hepatic failure, Leukopen... ORPHA:292
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Hypocalcemia, Fever, Abnormality of the lymphatic system, Abnormali... ORPHA:47
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Pancytopeni... OMIM:603553
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Abnormality of th... OMIM:155100
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Small for gestational age, Abnorm... ORPHA:275555
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Failure to thrive, Ventricular hypertrophy, Hepatomegaly, Left ventricular hypertrophy, In... OMIM:619048
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Hepatomegaly, Abnormally ossified vertebrae, Micromelia, Abno... ORPHA:175
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno... OMIM:222470
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Pseudohypoparathyroidism Type 1A
Band keratopathy, Laryngeal dystonia, Hypergonadotropic hypogonadism, Elevated circulating parath... ORPHA:79443
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Fever, Increased circulating IgA level, Elevated circulating C-reactive protei... OMIM:618048
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, 3-Methylglutaconic aciduria, Cataract, Neutropenia, Respiratory failure, Dystonia,... OMIM:617248
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hepatocellular necrosis, Hypothermia, Hepatomegaly, Hyperbilirubinemia, Micron... OMIM:251880
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Increased bone mineral density, Decreased... ORPHA:94089
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Ataxia, Hepatomegaly, 3-Methylglutaric aciduria, Hyperuricemia, Weight loss, Cardiac arres... ORPHA:20
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Tremor, Proteinuri... OMIM:212065
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Blindness, Hypocalcemia, Failure to thrive, Hepatomegaly, Increased bone mineral densi... OMIM:259700
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... OMIM:241200
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Bronchiectasis, Club... OMIM:618982
Neuroleptic Malignant Syndrome
Chorea, Tremor, Proteinuria, Hyperuricemia, Hypothermia, Fever, Oculogyric crisis, Elevated circu... ORPHA:94093
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Laryngeal dystonia, Increased bone mineral dens... ORPHA:36913
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Panhypogammaglobulinemia, Abnormality of iron homeostasis, Ventricu... ORPHA:84064
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hepatic failure, Hip subluxation, Pancytopenia, Cranial hyperostosis, Respiratory f... OMIM:259720
Marburg Hemorrhagic Fever
Pancreatitis, Elevated circulating creatinine concentration, Dysesthesia, Pericarditis, Reticuloc... ORPHA:99826
Fechtner syndrome
Neutrophil inclusion bodies, Nephritis, Menorrhagia, Hematuria, Leukocyte inclusion bodies, Devel... OMIM:153640
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Failure to thrive, Hepatomegaly, Elevated circulatin... OMIM:614727
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pain insensitivity, Impaired vibration sensation in the lower limbs, Pes cavus, Hypoalbum... ORPHA:94124
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... OMIM:601678
Idiopathic Congenital Hypothyroidism
Hypothermia, Decreased circulating T4 concentration, Delayed proximal femoral epiphyseal ossifica... ORPHA:95717
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Fever, Leukocytosis, Decreased... ORPHA:90060
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypothermia, Small for gestational age, Hypertrophic cardiomyopathy, Elevated cir... OMIM:618775
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... ORPHA:36234
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Hepatomegaly, Reversible renal failure, Ab... ORPHA:90051
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Fol... OMIM:603909
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Inability to walk, Heparan sulfate excretion in urine, ... ORPHA:505248
Pelger-Huet Anomaly
Failure to thrive, Pes cavus, Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Shor... OMIM:169400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hepatomegaly, Hemophagoc... OMIM:267700
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Decreased liver function, Talipes equinovarus, Hepatomegaly, Cholestasis, Camp... OMIM:608104
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Short distal phalanx of finger, Blindness, Hypocalcemia, Abnormal ... ORPHA:53
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, A... OMIM:603278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia... ORPHA:79312
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Complete or near-complete abse... ORPHA:79324
Pseudohypoparathyroidism Type 1C
Laryngeal dystonia, Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone leve... ORPHA:79444
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, Myocardial infarction,... ORPHA:54370
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Pericarditis, Sta... OMIM:619487
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... OMIM:613101
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Cough, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic... OMIM:619013
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Autosomal Dominant Spastic Paraplegia Type 9A
Impaired vibration sensation in the lower limbs, Mitral regurgitation, Pes cavus, Urinary urgency... ORPHA:447753
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Premature fusion of the radial epiphyseal plates, Decreased... ORPHA:90794
Malaria
Respiratory distress, Gait imbalance, Fever, Elevated circulating C-reactive protein concentratio... ORPHA:673
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hyperammonemia, Elev... ORPHA:159
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Timothy Syndrome
Hypocalcemia, Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, H... OMIM:601005
Alg6-Cdg
Increased circulating androgen concentration, Failure to thrive, Ataxia, Shortening of all distal... ORPHA:79320
Pearson Syndrome
Ataxia, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Corneal stromal edema, ... ORPHA:699
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Wilson Disease
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... OMIM:277900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Decreased prealbumin level, Type I diabetes mellitus, Pneumonia, Failure to... ORPHA:37042
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... OMIM:231200
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Relapsing Fever
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Jaundic... ORPHA:91547
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Necrotizing Enterocolitis
Abnormal heart morphology, Apnea, Leukocytosis, Small for gestational age, Temperature instabilit... ORPHA:391673
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:95716
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent fever, Decreased proportion of naive T cells, Decreased circulating IgA level, Decrease... ORPHA:276
Cockayne Syndrome Type 1
Photophobia, Failure to thrive, Ataxia, Abnormality of temperature regulation, Increased blood ur... ORPHA:90321
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Fever, Decreased serum creatinine, Hematuria, Arrhythmia, Myoc... ORPHA:54057
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Fever, Transient ischemic attack, Increased blood urea nitrogen, Jaundice, ... OMIM:274150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Pes cavus, Distal sensory impairment, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Elevated circulating par... OMIM:619073
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619658
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Ataxia, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micr... OMIM:617575
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, ... OMIM:226300
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Rhabdoid Tumor
Neoplasm of the liver, Fever, Renal neoplasm, Respiratory insufficiency, Hematuria, Weight loss, ... ORPHA:69077
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Recurrent fever, Fever, Hepatomegaly, Jaundice, Hem... OMIM:603552
Autoinflammation With Arthritis And Dyskeratosis
Photophobia, Failure to thrive, Recurrent fever, Increased circulating IgA level, Elevated circul... OMIM:617388
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Orthosta... ORPHA:230
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Cataract, Abnormal circulating arginine concentrat... ORPHA:247598
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Recurrent fever, Decreased circulating IgG level, E... OMIM:613011
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Pes cavus, Elevated circulating creatine kinase concentr... OMIM:208920
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Equinus calcaneus, Tip-toe gait, Left ... ORPHA:746
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Fever, Leukocytosis, Palpitations, Abnormal mean corpuscular vol... ORPHA:86839
Amoebiasis Due To Entamoeba Histolytica
Fever, Leukocytosis, Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis,... ORPHA:67
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Tapered finge... OMIM:608836
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... ORPHA:75565
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Ataxia, Infertility, Thyroiditi... OMIM:212750
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short... OMIM:607143
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Slc35A2-Cdg
Inability to walk, Transient nephrotic syndrome, Craniosynostosis, Osteopenia, Hip subluxation, F... ORPHA:356961
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hyperactivity,... ORPHA:247585
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... OMIM:619802
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Decreased liver function, Hepatomegaly, Hepatic failure,... ORPHA:367
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased serum complement factor H, Fever, Hyperlipidemia, Decreased serum complement factor B, ... OMIM:235400
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Micropenis, Flared metaphysis, Brachydactyly, Slender long bone,... OMIM:602361
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of the calf musculature, Limitation of movement at ankles, Leukocytosis, Positive Rom... ORPHA:206594
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Pancreatitis, Hepatomegaly, Hyperammonemia, Respiratory insufficiency, Leukopenia, Macroc... ORPHA:27
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinop... ORPHA:2070
Mu-Heavy Chain Disease
Increased circulating antibody level, Fever, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly,... ORPHA:100024
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Intention tremor, Osteopenia, Hypersplenism, Hypocholesterolemia, Ane... OMIM:610539
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Subdural hemorrhage, Jaundice, Visual impairment, Hemolytic-uremic ... ORPHA:79282
Boutonneuse Fever
Photophobia, Fever, Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Vascul... ORPHA:83313
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular hypertrophy, Atrioventricular block, Hepatomegaly, Premature ventricu... OMIM:212138
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Splenomegaly, Small for gestational age, Renal agenesis, Short femora... OMIM:618440
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Ataxia, Impotence, Bradykinesia, Dysmetria, Intention trem... ORPHA:93256
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia, Lacticaciduria, Respiratory insufficiency, Hypertaurinemia, Methy... OMIM:245400
Schimke Immunoosseous Dysplasia
Osteopenia, Hypoplasia of the capital femoral epiphysis, Proteinuria, Pancytopenia, Transient isc... OMIM:242900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Sarcoidosis
Bone cyst, Hepatomegaly, Hepatic failure, Abnormal cardiac ventricular function, Cataract, Weight... ORPHA:797
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Failure to thrive, Recurrent fever, Lymphopenia, Increased circulating IgA level,... OMIM:615934
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Shock, Hypoalbuminemia, Neutropenia OMIM:600351
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, T... ORPHA:238459
Spontaneous Periodic Hypothermia
Hypothermia, Ataxia, Arrhythmia, Gait disturbance, Tremor, Abnormal pattern of respiration ORPHA:29822
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Areflexia of lower limbs, Falls OMIM:615883
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... OMIM:613090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Chor... ORPHA:289916
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... OMIM:602522
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... OMIM:617156
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Increased level of galactitol in plasma, P... ORPHA:352
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent urin... OMIM:618495
Lathosterolosis
Bilobate gallbladder, Talipes equinovarus, Hyperbilirubinemia, Micrognathia, Hepatosplenomegaly, ... OMIM:607330
Paternal Uniparental Disomy Of Chromosome 1
Photophobia, Pain insensitivity, Episodic hemolytic anemia, Increased blood urea nitrogen, Cranio... ORPHA:251004
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Respiratory insufficiency, Hyperalaninemia, Dystonia, Bradycardia OMIM:614654
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Abnormality of temperature regulation, Hepatomegaly, Splenom... ORPHA:848
Propionic Acidemia
Apnea, Failure to thrive, Hyperglycinuria, Pancreatitis, Hepatomegaly, Hyperammonemia, Cerebellar... OMIM:606054
Babesiosis
Photophobia, Fever, Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Respiratory insuffic... ORPHA:108
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... ORPHA:289157
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Hypothermia, Decreased circulating T4 conc... ORPHA:226313
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... OMIM:300400
Colchicine Poisoning
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, ... ORPHA:31824
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Alg1-Cdg
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Renal insufficiency, Hyp... ORPHA:79327
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Gitelman Syndrome
Respiratory distress, Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldoste... ORPHA:358
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Hepatomegaly, Chronic tubulointerstitial nephritis, Metaphyseal widening, Brach... OMIM:614376
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Splenomegaly,... OMIM:613327
Hypophosphatasia, Infantile
Apnea, Bowing of the legs, Metaphyseal cupping, Failure to thrive, Fever, Short ribs, Craniosynos... OMIM:241500
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis OMIM:615193
Congenital Hypothyroidism
Nephrolithiasis, Hypothermia, Sinusitis, Abnormality of the thyroid gland, Abnormal pericardium m... ORPHA:442
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Lymphopenia, Pulmonary insufficiency, B ly... ORPHA:277
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Failure to thrive secondary to recurren... OMIM:608971
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Nijmegen Breakage Syndrome
Pollakisuria, Cachexia, Hemolytic anemia, Attention deficit hyperactivity disorder, Respiratory f... ORPHA:647
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... ORPHA:171
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Osteopenia, Hyperproteinemia, ... ORPHA:29073
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Fever, Arrhythmia, Oliguria, Elevated hepatic ... ORPHA:99845
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Hematochezia, Cataract, Paresthesia, Clubbin... OMIM:175500
Immunodeficiency 91 And Hyperinflammation
Recurrent fever, Failure to thrive, Persistent fever, Nephrotic syndrome, Elevated circulating C-... OMIM:619644
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hypertension, Decreased serum complement C3, Hematuria, Elevated c... OMIM:612925
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Apnea, Abnormality of temperature regulation, Hypophosphatem... ORPHA:667
Tularemia
Respiratory distress, Increased circulating antibody level, Fever, Leukocytosis, Abnormal nasopha... ORPHA:3392
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Lujo Hemorrhagic Fever
Respiratory distress, Elevated circulating C-reactive protein concentration, Myocarditis, Rhiniti... ORPHA:319213
Griscelli Syndrome
Ataxia, Fever, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ... ORPHA:381
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Band keratopathy, Hypergonadotropic hypogonadism, Osteopenia, Catara... ORPHA:2959
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Elevated circulating parathyroid hormone level, Hypocalcemic te... ORPHA:94090
Takenouchi-Kosaki Syndrome
Overlapping toe, Ataxia, Abnormal cardiac septum morphology, Unilateral renal agenesis, Hypospadi... OMIM:616737
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypophosphatemia, Hypocalcemia, Bone cyst, Abnormal hip bone morphology, Osteoma... ORPHA:93160
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Ne... ORPHA:572
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Left ventricular hypertrophy, Renal dysplasia, A... OMIM:616733
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... OMIM:300971
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Neutrophilia, Hemoperitoneum, Hepatic failure, Hemothorax, Subdural hemorrh... ORPHA:99827
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hypertension, Decreased serum complement C3, Hematuria, Elevated c... OMIM:612922
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Myocardial fibrosis, Abnormality of the hepatic vas... ORPHA:210136
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Intestinal bleeding, Lymphopenia, Reduced circulating transferri... ORPHA:90363
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyperprosta... ORPHA:89938
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Res... ORPHA:1505
Meningococcal Meningitis
Photophobia, Hypothermia, Fever, Elevated circulating C-reactive protein concentration, Hypotensi... ORPHA:33475
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Ataxia, Hepatomegaly, Hepatic failure, Chorea, Hypothermia, Fever, Episodic respiratory di... ORPHA:255210
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypermetropia, Sleep apnea, Inability to walk, Hypothermia, Fever, Abnormality of temperature reg... OMIM:618493
Hepatocellular Carcinoma
Hepatomegaly, Pedal edema, Weight loss, Jaundice, Fever, Hyperbilirubinemia, Elevated hepatic tra... ORPHA:88673
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Myocarditis, Pneumonia, Decreased urine output, Abnormality of chemokine secretion,... ORPHA:544482
Autosomal Recessive Spastic Paraplegia Type 9B
Impaired vibration sensation at ankles, Pollakisuria, Tip-toe gait, Urinary retention, Spastic ga... ORPHA:447760
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypogonadism ORPHA:163693
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... ORPHA:439232
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulati... ORPHA:340
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Hepatomegaly, Respiratory insufficiency, Microcornea, Large for gestational age,... ORPHA:2432
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Sengers Syndrome
Hypertrophic cardiomyopathy, Respiratory insufficiency, 3-Methylglutaconic aciduria, Developmenta... OMIM:212350
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Small hand, Congenital hypoparathyroidism, Slender long bone, Decre... OMIM:244460
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Bicuspid aortic valve, Atrial septal defect, ... OMIM:617744
Immunodeficiency 89 And Autoimmunity
Asthma, Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Elevat... OMIM:619632
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Stenosis of the medullary cavity of the... ORPHA:93324
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldoster... OMIM:214700
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Decre... ORPHA:470
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Decreased liver function, Hypothermia, Respiratory insufficiency, Macrovesicul... OMIM:618329
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Endocardial fibrosis, Abn... OMIM:235550
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Acute ... ORPHA:36238
Pgm3-Cdg
Ataxia, Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Chronic sinusitis, B... ORPHA:443811
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Arachnodactyly, Micrognat... OMIM:616730
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Bone marrow hypocellularity, Nephrolithiasis, Renal tubular acidosis,... ORPHA:2785
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Cholera
Fever, Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Aspiration p... ORPHA:173
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentr... ORPHA:90674
Congenital Rubella Syndrome
Corneal opacity, Hepatomegaly, Jaundice, Atrial septal defect, Splenomegaly, Ventricular septal d... ORPHA:290
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Hypertrophic cardiomyopathy, Respiratory failure, Dystonia, Bra... OMIM:616277
Ataxia-Telangiectasia
Ataxia, Inability to walk, Progressive cerebellar ataxia, Tremor, Leukemia, Decreased circulating... OMIM:208900
Galloway-Mowat Syndrome 6
Decreased body weight, Nephrotic syndrome, Clinodactyly of the 5th finger, Decreased response to ... OMIM:618347
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysp... ORPHA:71289
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Inappropriate... OMIM:618944
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... OMIM:619313
Exercise-Induced Malignant Hyperthermia
Ataxia, Abnormal pulse pressure, Hepatic failure, Malignant hyperthermia, Prolonged QT interval, ... ORPHA:466650
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Mevalonic Aciduria
Failure to thrive, Ataxia, Fluctuating hepatomegaly, Elevated circulating C-reactive protein conc... OMIM:610377
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin, Pulmonary art... OMIM:616299
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Fever, Diffuse mesangial sclerosis, Abnormal circulating lipid concentrati... ORPHA:567548
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Paroxysmal Nocturnal Hemoglobinuria
Impotence, Hemoglobinuria, Glycosuria, Myocardial infarction, Proteinuria, Reduced haptoglobin le... ORPHA:447
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Impaired T cell function, Ventricular septal defect, Abnormali... ORPHA:567
Brucellosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Chorea, Pneumon... ORPHA:1304
Interstitial Cystitis
Dyspareunia, Abnormality of the urethra, Nocturia, Urinary urgency, Abnormality of the menstrual ... ORPHA:37202
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Hypermetropia, Hypocalcemia, Microphthalmia, Increased bone mineral density, ... OMIM:127000
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Redu... OMIM:607271
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Abnormal femora... ORPHA:1830
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Pseudohypoparathyroidism, Type Ia
Short toe, Subcutaneous ossification, Elevated circulating parathyroid hormone level, Brachydacty... OMIM:103580
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth a... ORPHA:89937
Tbck-Related Intellectual Disability Syndrome
Asthma, Corneal opacity, 2-3 toe syndactyly, Inability to walk, Central adrenal insufficiency, Hy... ORPHA:488632
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyper... OMIM:251000
Primary Erythromelalgia
Abnormality of thrombocytes, Leukemia, Hypothermia, Vasculitis ORPHA:90026
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets OMIM:137560
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Hepatomegaly... OMIM:613070
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Pedal edema, R... ORPHA:84090
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Refsum Disease
Ataxia, Microphthalmia, Nyctalopia, Splenomegaly, Respiratory insufficiency, Pes cavus, Heart blo... ORPHA:773
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia, Cachexia, Micrognathia, Tapered finger, Sandal gap, Micro... ORPHA:1438
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Decreased serum complement C3, Complement deficiency, Decreased serum complem... ORPHA:567544
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Simple Cryoglobulinemia
Spontaneous pain sensation, Complement deficiency, Monoclonal elevation of circulating IgA, Myoca... ORPHA:91139
Gombo Syndrome
Brachydactyly, Clinodactyly, Delayed puberty, Microphthalmia, Radial deviation of finger, Abnorma... OMIM:233270
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Hypocalcemia OMIM:615361
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypermetropia, Apnea, Inability to walk, Osteopenia, Ventricular septal defect, Increased circula... ORPHA:438213
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Vasculitis in the skin, B lymphocytopenia,... OMIM:619381
Systemic Lupus Erythematosus 17
Recurrent fever, Fever, Lymphopenia, Raynaud phenomenon, Decreased serum complement C3, Mitral re... OMIM:301080
Acute Interstitial Pneumonia
Fever, Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Cra... ORPHA:79126
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypothermia, Lethargy OMIM:615026
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Leukopenia, Respiratory insufficiency,... OMIM:613845
Tetanus
Respiratory distress, Fever, Opisthotonus, Elevated circulating creatine kinase concentration, Ta... ORPHA:3299
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Fever, H... ORPHA:542323
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Micrognathia, Hepatic fail... OMIM:235255
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Hypoalb... OMIM:618349
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... OMIM:615573
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypermetropia, Hepatomegaly, Craniosynostosis, Talipes equinovalgus, Ventricular septal defect, R... OMIM:301056
Transaldolase Deficiency
Telangiectasia, Atrial septal defect, Abnormality of the kidney, Hepatosplenomegaly, Cirrhosis, B... ORPHA:101028
Hypophosphatasia
Craniosynostosis, Respiratory insufficiency, Bowing of the long bones, Emphysema, Hypercalcemia, ... ORPHA:436
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Purulent rhinitis, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytope... OMIM:601457
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Hypocalcemia, Short 5th finger, Hypoplasia of the capital femoral epiphysi... ORPHA:557003
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypothermia, Ataxia, Hypocalcemia, Episodic respiratory distress, Hype... ORPHA:31826
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Microphthalmia, Small for gestatio... ORPHA:1617
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Ankle clonus, Dysdiadochokinesis, Urinary incontinence, Difficulty walking, Positional... ORPHA:171629
Double Outlet Right Ventricle
Double outlet right ventricle, Failure to thrive, Hypoparathyroidism, Hypocalcemia, Hypoplastic l... ORPHA:3426
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Heart murmur, Ventricular septal defect, Rocker bottom foot, Toe clinodactyly, Hyperbilirubinemia... ORPHA:163979
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal center, Panhypogammaglobulinem... ORPHA:79124
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Ascites, Microphthalmia, Anemia, Thrombocy... ORPHA:858
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Small for ... OMIM:256300
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... ORPHA:88618
Pudendal Neuralgia
Dysuria, Impotence, Dyspareunia, Paresthesia, Pollakisuria ORPHA:60039
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Urinary bladder sphincter dysfunction, Ataxia, Elevated alpha-fetoprotein, Elevat... ORPHA:64753
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Apnea, Recurrent fever, Cerebral hemorrhage, Leukoc... OMIM:618886
Igg4-Related Aortitis
Increased circulating antibody level, Asthma, Fever, Elevated circulating C-reactive protein conc... ORPHA:449400
Immunodeficiency 43
Radial bowing, Decreased circulating IgG level, Hypoproteinemia, Hypoplasia of the ulna, Hypoalbu... OMIM:241600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Photophobia, Failure to thrive, Cirrhosis, Elevated hepatic transaminase, Keratoconus, Hypoalbumi... OMIM:242150
Juvenile Nephropathic Cystinosis
Glycosuria, Corneal crystals, Elevated circulating creatinine concentration, Proteinuria, Proxima... ORPHA:411634
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Brachydactyly, Hyperphosphatemia, O... OMIM:603233
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increas... ORPHA:90673
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Micrognathia, Hepatospleno... ORPHA:1655
Stuve-Wiedemann Syndrome 1
Apnea, Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joi... OMIM:601559
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Cholestasis, Thin bony cortex, Pancytopenia, Bile duct proliferation, Respiratory fai... OMIM:613658
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia, Osteoporosis, Nephrotic syndrome OMIM:613606
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... OMIM:617182
Acute Bilirubin Encephalopathy
Fever, Hypernatremia, Central apnea, Hemolytic anemia, Abnormal conjunctiva morphology, Conjuncti... ORPHA:529799
Chronic Bilirubin Encephalopathy
Fever, Hypernatremia, Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva... ORPHA:529808
Igg4-Related Retroperitoneal Fibrosis
Impotence, Elevated circulating C-reactive protein concentration, Hematuria, Elevated circulating... ORPHA:49041
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Brachydactyly, Osteoporosis, Hypothyroidism, Hypo... OMIM:612462
Mpi-Cdg
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Mastocytosis
Asthma, Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arrhyt... ORPHA:98292
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Atrial septal defect, Elevated circulating propionylcarnitine concentration, M... OMIM:614857
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Chylothorax, Lymphangioma, Splenomegaly, Craniosynostosis, Pulmonary l... ORPHA:2136
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Micropenis, Hypospadias, Dilated cardiomyopathy, Developmental cataract, Hypertr... OMIM:618815
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal de... OMIM:617397
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Abnormality of the thyroid gland, Sensory ataxia, Arrhythmia, Gait disturbance, Cataract, Hypogon... OMIM:609286
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Menkes Disease
Hypothermia, Metaphyseal spurs, Metaphyseal widening, Intracranial hemorrhage, Osteoporosis, Decr... OMIM:309400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Horseshoe kidney, Pericardial lymphangiectasia, Talipes equinovarus, H... OMIM:235510
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Cerebral vasculitis, Eosinophilia, Decreased circulating total IgM, Subarachnoid hemorrha... OMIM:243700
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Sanjad-Sakati Syndrome
Aplasia/Hypoplasia affecting the eye, Hypoparathyroidism, Corneal opacity, Hypocalcemia, Hypoplas... ORPHA:2323
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Fever, Orthostatic hypotension, Eleva... ORPHA:556037
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hypertension, Hematuria, Elevated circulating creatinine concentra... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hypertension, Hematuria, Elevated circulating creatinine concentra... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hypertension, Hematuria, Elevated circulating creatinine concentra... OMIM:612926
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Abnormal fingertip morphology, Ureteral obstruction, Urinary retention, Pne... ORPHA:79404
Sheehan Syndrome
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... ORPHA:91355
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Hyperammonemia, Keratoconjunctivitis, Tachypnea, Organic aciduria, ... ORPHA:79242
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Proteinuria, Hypertension OMIM:189800
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Nephropath... ORPHA:2238
Coenzyme Q10 Deficiency, Primary, 7
Respiratory insufficiency, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Hepatomegaly, Unsteady gait, Hypothermia, Short femur, Abnormal rena... ORPHA:17
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... OMIM:146200
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent fever, Increased circulating antibody level, Sinusitis, Failure to thrive, Lymphopenia,... OMIM:617591
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Impaired vibratory sensation, Decreased LDL cholesterol concentra... OMIM:246700
Late-Onset Isolated Acth Deficiency
Graves disease, Decreased circulating cortisol level, Orthostatic hypotension, Low-grade fever, M... ORPHA:199299
Congenital Amegakaryocytic Thrombocytopenia
Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skul... ORPHA:3319
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia, Hydronephrosis OMIM:300048
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Ataxia, Hepatomegaly, Abnormality of limb bone morphology, Panhypogammaglobuli... ORPHA:251009
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Decreased liver function, Iris hypopigmentation, Cataract, 3-Methylglutaconic ... ORPHA:67048
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Exocrine pancreatic insufficiency, Craniosynostosis, Severe ... OMIM:620005
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Failure to thrive, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splen... OMIM:239200
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytope... ORPHA:2123
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... OMIM:606407
Bernard-Soulier Syndrome
Asthma, Impaired ristocetin-induced platelet aggregation, Partially duplicated kidney, Hematemesi... ORPHA:274
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen... OMIM:256040
Gaucher Disease Type 1
Hepatomegaly, Osteopenia, Hematuria, Pedal edema, Osteolysis, Proteinuria, Abnormal myocardium mo... ORPHA:77259
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Hyporeflexia of lower limbs, Third degree atrioventricular block, Dil... OMIM:601419
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Hypoparathyroidism, Hypocalcemia, Nephropathy, Brachydactyly, Hyp... ORPHA:1563
Congenital Lethal Erythroderma
Failure to thrive, Respiratory insufficiency, Hypoalbuminemia ORPHA:1954
Deafness-Lymphedema-Leukemia Syndrome
Fever, Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorr... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Atrial se... OMIM:614576
Digeorge Syndrome
Cholelithiasis, Impaired T cell function, Ventricular septal defect, Abnormality of the thymus, P... OMIM:188400
Galactokinase Deficiency
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Nuclear cataract, He... ORPHA:79237
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo... OMIM:618183
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Arrhythmia, Cat... OMIM:606069
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Decreased response to growth hormone stimulation test, Micropenis, Small hand, Micr... OMIM:241410
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Micrognathia, Decreased circulating total IgM, Short middle phal... OMIM:251190
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... ORPHA:167
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Impotence, Orthostatic hypotension, Tremor, Urinary retention, Erectile dysfunction, Impa... ORPHA:99027
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Increased circulating IgA level, Abnormal circulating lipid con... ORPHA:186
Classic Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Primary amenorrhea, Secondary amenorrhea, ... ORPHA:79239
Yellow Fever
Supraventricular arrhythmia, Neutrophilia, Pancreatic hyperplasia, Elevated circulating aspartate... ORPHA:99829
Developmental And Epileptic Encephalopathy 78
Hypothermia, Inability to walk, Chorea, Cerebral visual impairment OMIM:618557
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Atrial septal defect, Paroxysmal atrial tachycardia, Visual loss, Ventricul... ORPHA:49827
Maternally-Inherited Diabetes And Deafness
Ataxia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Cataract... ORPHA:225
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... OMIM:601198
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent fever, Fever, Hepatomegaly, Hemophagocyto... OMIM:300635
Pediatric-Onset Graves Disease
Keratitis, Graves disease, Hepatomegaly, Sinus tachycardia, Craniosynostosis, Increased circulati... ORPHA:525731
Oncogenic Osteomalacia
Renal phosphate wasting, Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypoca... ORPHA:352540
Glutamine Deficiency, Congenital
Apnea, Hyperammonemia, Micromelia, Camptodactyly, Hypoglutaminemia, Neonatal respiratory distress... OMIM:610015
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Failure to thrive, Ataxia, Loss of ambulation, ... OMIM:615838
Nephronophthisis-Like Nephropathy 2
Recurrent fever, Polyuria, Cough, Elevated circulating creatinine concentration, Periglomerular f... OMIM:619468
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Hypocalcemia, Osteopetrosis, Metaphyseal widening, Visual impairment OMIM:618476
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Intention tremor, Micrognathia, Camptodactyly of finger, Hypogonadotropic hypo... ORPHA:48431
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Visual field defect, Abnormality of the hepatic vasculature, Raynaud phenomenon, Hypertension, He... ORPHA:247691
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Micromelia, Hammertoe, Ventricular septal defect, Hip subluxation, Cataract, Epiphy... OMIM:270400
Immunodeficiency 23
Asthma, Ataxia, Failure to thrive, Lymphopenia, Vasculitis in the skin, Eosinophilia, Abscess, Me... OMIM:615816
Coccidioidomycosis
Respiratory distress, Pancreatitis, Abscess, Osteolysis, Pneumonia, Pericarditis, Abnormal sperm ... ORPHA:228123
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Pes cavus, Tremor, Cataract, Microphthalmia OMIM:278780
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Atrioventricular canal defect, Osteop... OMIM:619534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Atypical Hemolytic Uremic Syndrome
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... ORPHA:2134
Cranioectodermal Dysplasia 1
Hepatomegaly, Hepatic failure, Malformation of