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Gene: Fam185a MGI:2140983

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Gene Summary

Name:
family with sequence similarity 185, member A
Synonyms:
N/A

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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 heart morphology Fam185aem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Fam185aem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating sodium level Fam185aem1(IMPC)Ccpcz HOM Early adult 9.85×10-05
decreased circulating creatinine level Fam185aem1(IMPC)Ccpcz HOM Early adult 4.56×10-05
hydrometra Fam185aem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fam185aem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Fam185aem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fam185aem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fam185aem1(IMPC)Ccpcz HOM Early adult 0.00
increased lung tissue damping Fam185aem1(IMPC)Ccpcz HOM Early adult 1.60×10-05
decreased startle reflex Fam185aem1(IMPC)Ccpcz HOM Early adult 9.12×10-05
abnormal spleen morphology Fam185aem1(IMPC)Ccpcz 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 Hind Leg and Hip

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Fam185a 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 Fam185a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Pulmonary em... ORPHA:94093
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo... ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo... ORPHA:529799
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Tachypnea, Jaundice, Hyperammonemia, Hyperprolinemia, H... OMIM:615751
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Abnormal pattern of ... ORPHA:3008
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Hypohomocysteine... OMIM:617744
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine conce... OMIM:617872
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Respiratory insufficiency, Leukopen... OMIM:613845
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphad... ORPHA:549
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Clitoral hypertrophy, Hypospadias, Female external genitalia in individual with 46,... ORPHA:90791
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent... OMIM:619381
Preeclampsia
Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Thrombocyt... ORPHA:275555
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Secundum atrial septal defect, Clitoral hypertrophy, Fused labia minora OMIM:608688
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
Mirage Syndrome
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Hype... OMIM:617053
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ... ORPHA:1667
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Wheezing, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, C... ORPHA:171876
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Pneumonia, Male pseudohermaphroditism, ... ORPHA:90790
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Dyspnea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromboc... ORPHA:54057
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Cryptorchidism, Precocious puberty, Hyperkalemia OMIM:614736
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Apnea OMIM:240200
Necrotizing Enterocolitis
Hyponatremia, Apnea, Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Thrombocy... ORPHA:391673
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, Re... ORPHA:100924
Colchicine Poisoning
Hyponatremia, Respiratory distress, Myocarditis, Leukocytosis, Abnormal blood ion concentration, ... ORPHA:31824
Snakebite Envenomation
Hyponatremia, Epistaxis, Respiratory failure, Respiratory paralysis, Hypopituitarism, Thrombocyto... ORPHA:449285
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level ORPHA:556037
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:168558
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Respiratory insufficiency, Hepatocell... ORPHA:79273
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, Nonproduct... ORPHA:79126
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:289548
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia ORPHA:163921
Whipple Disease
Hyponatremia, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Splenomegaly, Myocarditis,... ORPHA:3452
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Tremor OMIM:612736
Herpes Simplex Virus Encephalitis
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... ORPHA:1930
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Hypernatremia OMIM:615465
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, Dystonia, Hyperalaninemia, ... OMIM:614702
Adrenal Hypoplasia, Congenital
Hyponatremia, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia,... OMIM:300200
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Tremor, Dyspnea, ... OMIM:610505
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Respiratory distress OMIM:616733
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Respiratory insuf... ORPHA:682
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Pseudo-Torch Syndrome 3
Apnea, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, R... OMIM:618886
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Elevat... ORPHA:90060
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg... OMIM:212140
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Respiratory ... OMIM:602088
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Anemia,... OMIM:608104
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia, Goiter ORPHA:83601
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypoalbuminemia, Hypoca... OMIM:618183
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Apneic episodes in in... OMIM:619111
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... OMIM:613095
Familial Glucocorticoid Deficiency
Hyponatremia, Precocious puberty, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Az... ORPHA:361
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Congenital Myopathy 8
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly OMIM:618654
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia, Anemia OMIM:620366
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia OMIM:619064
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ca... OMIM:608800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hypercalcemia, Eosinophil... ORPHA:199299
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Cryptorchidism, Hyperkalemia, Anemia ORPHA:97362
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Relapsing Fever
Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thrombocytopenia,... ORPHA:91547
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... OMIM:619991
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Shigellosis
Hyponatremia, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal blood ion concentration... ORPHA:810
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Pulmonary arterial hypertension, Hyperalan... OMIM:619051
Adenohypophysitis
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:95512
Panhypophysitis
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:95513
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Tachypnea, Hypera... OMIM:201475
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... ORPHA:615
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Bronchiectasis, Cough OMIM:619468
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Tremor, Jaundice, Schistocytosis, Elevated circulating cre... OMIM:274150
Alg12-Cdg
Hyponatremia, Hypospadias, Cryptorchidism, Muscular ventricular septal defect, Recurrent pneumoni... ORPHA:79324
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... ORPHA:983
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentr... OMIM:608836
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Abnormality of the liver, Respiratory... ORPHA:79473
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Cardiac-Urogenital Syndrome
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Abnormal heart morphology, Parathyroid hypo... ORPHA:2237
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restri... ORPHA:99931
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Aminoaciduria, Hypocalcemia OMIM:617913
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Japanese Encephalitis
Hyponatremia, Respiratory distress, Neutrophilia, Tremor, Opisthotonus, Choreoathetosis, Pill-rol... ORPHA:79139
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... ORPHA:275761
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:2162
Cholera
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... ORPHA:173
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... ORPHA:90794
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Hypocalcemia, Pulmonary arterial hypertension... OMIM:601005
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration, Supernumerary nipple, Restrictive ve... OMIM:614376
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Pineal cyst, Iron deficiency anemia, Decreased serum cre... OMIM:618885
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... ORPHA:555874
Meacham Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... ORPHA:3097
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au... ORPHA:293978
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Diethylstilbestrol Syndrome
Central apnea, Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchi... ORPHA:1916
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Infant Botulism
Hyponatremia, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:178478
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Anisocytosis,... OMIM:618278
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... ORPHA:57777
Addison Disease
Hyponatremia, Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Hypercalcemia, T... ORPHA:85138
Sheehan Syndrome
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:91355
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Reduced blood urea nitrogen,... OMIM:219800
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... ORPHA:411634
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, External genital hypoplasia, Cardiome... ORPHA:79330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy ORPHA:391428
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Elevated circulating creatine kinase concentration, Pneumonia, M... ORPHA:36234
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Acute Intermittent Porphyria
Hyponatremia, Tremor, Respiratory insufficiency, Respiratory paralysis, Hepatocellular carcinoma,... ORPHA:79276
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Pneumonia, Myocarditis, Leukocytosis, Dyspnea, Hyperkalemia, Pleu... ORPHA:544482
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Respiratory failure, Atrial septal defect, ... OMIM:620327
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Rabin-Pappas Syndrome
Hyponatremia, Hypoventilation, Tracheomalacia OMIM:620155
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Cardiomegaly, Pericardial effusion, ... OMIM:115197
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... OMIM:306955
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Pneumonia, Nodular regenerative hyperplasia of liver, Elevated circulating cre... ORPHA:247691
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating cer... OMIM:620306
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... OMIM:601186
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly ORPHA:309155
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:228308
Renal Cysts And Diabetes Syndrome
Hypospadias, Elevated circulating creatinine concentration, Biliary tract abnormality, Hypoplasia... OMIM:137920
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Aapoaiv Amyloidosis
Hyperlipidemia, Chronic pulmonary obstruction, Elevated circulating creatinine concentration, Hyp... ORPHA:439232
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ... ORPHA:308552
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Hyperbi... ORPHA:542323
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus OMIM:617022
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... ORPHA:730
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Respiratory insufficiency, Anem... ORPHA:534
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Hypertrophic ... OMIM:616897
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Cardiomegaly ORPHA:3137
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... ORPHA:1329
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi... OMIM:201750
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly OMIM:266500
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia OMIM:618426
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia... OMIM:608013
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... OMIM:617478
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... ORPHA:439
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Elevated circulating creatinine concentration, Rhinitis, Increased blood urea nitrogen, ... ORPHA:230
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia ORPHA:79233
Familial Dysautonomia
Hyponatremia, Abnormal peritoneum morphology ORPHA:1764
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase concentration, H... ORPHA:99826
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Precocious puberty, Tremor, He... ORPHA:845
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Limb tremor, Cardiorespirato... OMIM:608643
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia ORPHA:3320
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Decreased response to growth hormone stimulation test, Central hyp... ORPHA:293987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:253800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ... ORPHA:3130
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... OMIM:615300
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Meckel Syndrome 14
Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genita... OMIM:619879
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... ORPHA:449395
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly OMIM:613320
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomeg... ORPHA:14
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Familial Aortic Dissection
Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly ORPHA:229
Hyperekplexia 3
Respiratory arrest, Exaggerated startle response, Apnea OMIM:614618
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax OMIM:619036
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Thrombocytopenia, Leukocytosis, Dyspnea, Hyperkalemia... ORPHA:340
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly OMIM:105210
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Uterine prolapse, Exaggerated startle response, Bicuspid aortic valve, Ventricul... ORPHA:438213
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Precocious ... ORPHA:96191
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response OMIM:618201
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Aspiration pneumonia, Dystonia ORPHA:79255
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim... OMIM:619534
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Respiratory failure OMIM:618252
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... ORPHA:3384
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dystonia OMIM:230000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Elevated circulating creatinine concentration, Increased bloo... OMIM:223900
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Hyperekplexia 1
Aspiration, Exaggerated startle response, Apnea OMIM:149400
Absence Of The Pulmonary Artery
Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Abnor... ORPHA:980
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Apnea, Truncal titubation OMIM:618056
Cardiogenic Shock
Increased pulmonary capillary wedge pressure, Crackles, Dyspnea, Elevated circulating creatinine ... ORPHA:97292
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic... OMIM:300855
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... OMIM:261740
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Oligomeganephronia
Secundum atrial septal defect, Elevated circulating creatinine concentration ORPHA:2260
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Polycystic ovaries, Cough ORPHA:137675
Tay-Sachs Disease
Aspiration, Exaggerated startle response OMIM:272800
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... OMIM:274000
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Upper airway obstru... ORPHA:581
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Pauci-Immune Glomerulonephritis
Dyspnea, Elevated circulating creatinine concentration, Granulomatosis, Cough, Pancreatitis ORPHA:93126
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Tremor, C... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... ORPHA:365
Tropical Endomyocardial Fibrosis
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement,... ORPHA:75565
Gm2-Gangliosidosis, Ab Variant
Aspiration, Exaggerated startle response, Dystonia OMIM:272750
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Recurrent pneumoni... OMIM:252500
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... OMIM:309801
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Dyspnea, Right ventricular hypertrophy, Abnormality of the hepatic va... ORPHA:1677
Aicardi-Goutières Syndrome
Dystonia, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Tremor, Chronic lymphatic leukemia,... ORPHA:51
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Respiratory failure, Cardiomegaly ORPHA:158687
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... OMIM:236680
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... OMIM:618419
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia OMIM:614083
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Exaggerated startle response, Dystonia ORPHA:438216
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Spontaneous pneumothorax, Repeated pneumothoraces, Cryptorchidism, Cystocele, Pn... OMIM:130050
Okamoto Syndrome
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... ORPHA:2729
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Exaggerated startle response OMIM:617301
Beckwith-Wiedemann Syndrome
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Cryptorchidism,... ORPHA:116
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Respiratory insufficiency, Hypoasparaginemia OMIM:615574
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... ORPHA:99829
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Apnea, Respiratory insufficiency, Dystonia ORPHA:521426
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Bohring-Opitz Syndrome
Apnea, Cardiomegaly, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas ORPHA:97297
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... ORPHA:69085
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Apnea, Respiratory insufficiency OMIM:617527
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea ORPHA:91387
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Enlarged polycystic ovaries, Splenom... ORPHA:744
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... ORPHA:3472
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Bil... OMIM:194190
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocele t... OMIM:619522
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... OMIM:256520
Coffin-Siris Syndrome 1
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... OMIM:135900
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... OMIM:107480
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Myocardial cal... ORPHA:51608
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Pneumothorax, Respirator... ORPHA:286
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Bicuspid pulmonary valve, Hypoplasia of the uterus, Clitoral hypopla... ORPHA:709
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Peters-Plus Syndrome
Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Cryptorch... OMIM:261540
Pallister-Killian Syndrome
Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypo... OMIM:601803
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul... OMIM:182250
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fam185a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fam185a.

No publications found that use IMPC mice or data for Fam185a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fam185atm44036(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fam185atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam185aem1(IMPC)Ccpcz Exon Deletion Mice

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