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Gene: Fads6 MGI:3039592

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Gene Summary

Name:
fatty acid desaturase domain family, member 6
Synonyms:
OTTMUSG00000021749,  BC050213

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
persistence of hyaloid vascular system Fads6tm1b(EUCOMM)Wtsi HOM Early adult 9.61×10-15
abnormal retina morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 5.98×10-10
abnormal retina blood vessel morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 2.04×10-07
increased circulating calcium level Fads6tm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-06
increased circulating potassium level Fads6tm1b(EUCOMM)Wtsi HOM Early adult 3.92×10-10
abnormal skin morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal vitreous body morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 4.21×10-06
enlarged uterus Fads6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased blood urea nitrogen level Fads6tm1b(EUCOMM)Wtsi HOM Early adult 3.99×10-10
abnormal cecum morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal retina vasculature morphology Fads6tm1b(EUCOMM)Wtsi HOM   Early adult 8.04×10-06
abnormal duodenum morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating creatinine level Fads6tm1b(EUCOMM)Wtsi HOM Early adult 7.09×10-07

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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 Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Fads6 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 Fads6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Abnormal vagina morphology ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypergonadotropic h... OMIM:617872
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Anal... OMIM:154230
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Papilledema, Hyperkalemia OMIM:620366
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Infantile Myofibromatosis
Abnormal intestine morphology, Tracheoesophageal fistula, Hypercalcemia, Intestinal obstruction ORPHA:2591
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalcemia, Cryptorchidism OMIM:614732
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Donnai-Barrow Syndrome
Abnormality of the uterus, Intestinal malrotation, Retinal detachment, Bicornuate uterus, Iris co... ORPHA:2143
Coach Syndrome 2
Elevated circulating creatinine concentration, Coloboma, Chorioretinal coloboma OMIM:619111
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hypocalcemia ORPHA:100025
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Non-Functioning Paraganglioma
Hypertensive retinopathy, Hypercalcemia ORPHA:94080
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Rhabdoid Tumor
Neoplasm of the liver, Hypercalcemia ORPHA:69077
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular OCT, Macular... ORPHA:251004
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hypocalcemia, Cryptorchidism, Macroglossia, Hypercalcemia OMIM:618440
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Hypercalcemia OMIM:171420
Abetalipoproteinemia
Fat malabsorption, Retinopathy, Abetalipoproteinemia, Retinal degeneration OMIM:200100
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Retinal degeneration, Decreased LDL cholesterol conc... ORPHA:79320
C3 Glomerulopathy
Elevated circulating creatinine concentration, Yellow/white lesions of the retina, Central serous... ORPHA:329918
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Peptic ulcer, Hypercalcemia OMIM:145981
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hypophosphatasia
Hypercalcemia ORPHA:436
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Abnormal retinal morphology OMIM:219750
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Angioid streaks of the fundus, Calcinosis OMIM:211900
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Hypomagnesemia,... OMIM:175500
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Peptic ulcer, Hypophosphatemia, Hypercalcemia OMIM:600740
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
2P21 Microdeletion Syndrome
Hypogonadism, Cystinuria, Hypocalcemia ORPHA:163693
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Refractory Celiac Disease
Hypoalbuminemia, Protein-losing enteropathy, Hypomagnesemia, Jejunitis, Villous atrophy, Hypocalc... ORPHA:398063
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Microphthalmia, Syndromic 12
Intestinal malrotation, Bicornuate uterus, Cryptorchidism, Cleft palate OMIM:615524
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, High palate, Increased blood urea ... OMIM:223360
Spinal Cord Injury
Paralytic ileus, Hypercalcemia ORPHA:90058
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Late-Onset Isolated Acth Deficiency
Hyponatremia, Celiac disease, Hypercalcemia, Hyperuricemia ORPHA:199299
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Protein-losing enteropathy, Crypt... OMIM:608104
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Hypercalcemia ORPHA:276621
Pheochromocytoma
Hypertensive retinopathy, Hypercalcemia OMIM:171300
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia ORPHA:29072
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Cryptorchidism, Precocious puberty OMIM:614736
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Macular edema, Elevated circulating creatinine concentration, Abnorm... ORPHA:247691
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Esophageal stricture, Decreased testicular size, Cryptorch... OMIM:617053
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Hypomagnesemia, Hypocalcemia, Cryptorc... OMIM:618183
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Accumulation of lipid droplets in smal... OMIM:246700
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Papillorenal Syndrome
Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creatinine conc... OMIM:120330
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Abnormal labia majora morphology, Decreased testicular size, Ambiguous geni... ORPHA:90791
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Addison Disease
Celiac disease, Hyperuricemia, Hyponatremia, Primary testicular failure, Hyperkalemia, Hypercalce... ORPHA:85138
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Functional abnorm... ORPHA:29073
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Pigmentary retinopathy, Cryptorchidism, Increased blood urea ni... ORPHA:90321
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Mitchell-Riley Syndrome
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Hyperbilirubinemia, Jejunal ... OMIM:615710
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Hypocalcemia, Aplasia of the uterus, Rod-cone dystrophy, Vagina... ORPHA:2237
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Birk-Landau-Perez Syndrome
Optic atrophy, Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Preeclampsia
Elevated circulating creatinine concentration, Helicobacter pylori infection, Polycystic ovaries ORPHA:275555
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Retinal degeneration, Decreased LDL... OMIM:615558
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjug... ORPHA:90038
Monosomy 13Q34
Hematochezia, Hypercalcemia ORPHA:96168
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Hypocalcemia ORPHA:1438
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Esophagitis, Hypercalcemia, Zollinger-Ellison syndrome OMIM:131100
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... ORPHA:103910
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Attenuation of retinal blood vessels OMIM:614376
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Decreased HDL cholesterol concentration, Hy... ORPHA:85450
Albers-Schönberg Osteopetrosis
Optic atrophy, Hypocalcemia ORPHA:53
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Esophagitis, Intestinal obstruction, Zol... ORPHA:913
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Hypophosphatemia, Dysphagia, Testicular neoplasm, Hypercalcemia, Uterine leiomyoma ORPHA:99880
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Hyponatremia, Male pseudohermaphrodi... OMIM:201810
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:95409
Parathyroid Carcinoma
Peptic ulcer, Hypophosphatemia, Dysphagia, Testicular neoplasm, Hypercalcemia, Uterine leiomyoma ORPHA:143
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, High, narrow palate, Gastroesophageal reflux, Abnormal gastrointestinal tract... ORPHA:369837
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Hypomagnesemia, Intestinal lym... ORPHA:90362
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Gastroesophageal reflux, Hypocalcemia, Hypokalemia, Hyponatremia, C... OMIM:617913
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Hypocalcemia, Cryptorchidism, Abnormal fal... ORPHA:1655
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Gastroesophageal reflux, Increased blood urea nitr... OMIM:223900
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Hypercalcemia ORPHA:476126
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Sex reversal, Clitoral hypertrophy, Abnormal circulating cholesterol concen... ORPHA:168558
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Intussusception, Duodenal adenocarcinoma, Hypokalemia, Multiple ga... OMIM:174900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Jej... OMIM:243150
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypocalcemia, Cryptorchidism, Retinal detachment, Micropenis, Hypospadias OMIM:607143
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Sex reversal, Clitoral hypertrophy, Abnormal circulating cholesterol concen... ORPHA:289548
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Papilledema, Transient hypophosphatemia, Retinal calcification OMIM:127000
Donnai-Barrow Syndrome
Intestinal malrotation, Retinal detachment, Bicornuate uterus, Iris coloboma, Retinal dystrophy OMIM:222448
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Hyposp... OMIM:601346
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism ORPHA:1756
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level OMIM:218030
Fibrous Dysplasia Of Bone
Precocious puberty in females, Ovarian cyst, Hypophosphatemia, Testicular neoplasm, Hypercalcemia ORPHA:249
Hypotonia-Cystinuria Syndrome
Cystinuria, Hypocalcemia, Hypergonadotropic hypogonadism OMIM:606407
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Chorioretinal scar OMIM:277175
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Hyponatremia, Male pseudohe... ORPHA:90790
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Esophagitis, Zollinger-Ellison syndrome, Testicular neoplasm, Cervix cancer, Hyperc... ORPHA:276152
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Hyperphosphatemia, Hypocalcemia, Cryptorchidism, Micropenis, Hypocalcemic seizures OMIM:241410
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Gracile Bone Dysplasia
Micropenis, Ankyloglossia, Aniridia, Hypocalcemia OMIM:602361
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Stromme Syndrome
Retinal vascular tortuosity, Intestinal malrotation, Jejunal atresia, Iris coloboma, Duodenal atr... OMIM:243605
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Ganglioneuromatosis, Cervical neoplasm, Aganglionic megacolon, Neopla... ORPHA:653
Ppoma
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the small intestine, Intestinal ... ORPHA:97278
Fanconi Anemia, Complementation Group B
Optic disc hypoplasia, Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Micropenis, D... OMIM:300514
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Increased serum bile acid concentration OMIM:607748
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Somatostatinoma
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the small intestine, Steatorrhea... ORPHA:97283
Congenital Tufting Enteropathy
Optic disc coloboma, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small... ORPHA:92050
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hypocalcemia, Cryptorchidism, Micropenis, High palate, Hypoproteinemi... OMIM:235255
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Azoospermia, Cryptorchidism, Hyponatremia, Testicular ... ORPHA:361
Grfoma
Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, Intestinal obstruction, Neoplasm of the ... ORPHA:97261
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Clitoral hypertrophy, Pigmentary retinopathy, Colonic atresia, Anteriorly placed a... OMIM:309801
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tr... ORPHA:2070
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Cryptorchidism, Intestinal obstruction, Hypoplasia of penis ORPHA:2323
Vipoma
Abnormal gastrointestinal motility, Hypokalemia, Neoplasm of the liver, Benign gastrointestinal t... ORPHA:97282
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Glucagonoma
Gastrointestinal hemorrhage, Abnormal gastrointestinal motility, Intestinal obstruction, Steatorr... ORPHA:97280
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Retinal dystrophy OMIM:266900
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate OMIM:619074
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hypocalcemia OMIM:259700
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Oculopalatocerebral Syndrome
Cleft palate, Remnants of the hyaloid vascular system OMIM:257910
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Increased total bilirubin, Elevated circulating creatinine concentration, Decrease... OMIM:608836
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevate... ORPHA:49041
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Anteriorly placed anus, Hyperammonemia, Hypocalcemia... ORPHA:26793
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Aganglionic megacolon, Ectopic a... ORPHA:2059
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Cleft palate, Bicornuate uterus OMIM:601076
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Cryptorchidism ORPHA:97362
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys ORPHA:3411
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ... ORPHA:411634
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Prune Belly Syndrome
Volvulus, Abnormality of the uterus, Intestinal malrotation, Decreased testicular size, Cryptorch... ORPHA:2970
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia ORPHA:746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of the hyaloid v... OMIM:614643
Double Outlet Right Ventricle
Intestinal malrotation, Cleft palate, Hypocalcemia, Submucous cleft hard palate ORPHA:3426
Duodenal Atresia
Duodenal atresia OMIM:223400
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Abnormality of the gastrointestinal tract, Hyperli... ORPHA:439232
Hypoplasminogenemia
Abnormality of the ovary, Decreased level of plasminogen, Abnormal fallopian tube morphology, Duo... ORPHA:722
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria OMIM:264700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hypocalcemia OMIM:618476
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
X-Linked Agammaglobulinemia
Glossoptosis, Hypocalcemia ORPHA:47
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, E... ORPHA:1199
Cystinosis
Hypokalemia, Hypophosphatemia, Retinopathy, Aminoaciduria ORPHA:213
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Retinal vascular tortuosity, Hypocalcemia, Submucous cleft hard pal... OMIM:192430
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Achlorhydria, Abnormal blood ion concentration ORPHA:173
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Fryns Microphthalmia Syndrome
Unicornuate uterus, Bilateral cleft palate OMIM:600776
Microform Holoprosencephaly
Cyclopia, Ambiguous genitalia, Hypoplasia of penis, Iris coloboma, Duodenal atresia, Cleft palate ORPHA:280200
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Liddle Syndrome
Hypokalemia ORPHA:526
Rhombencephalosynapsis
Abnormality of the uterus, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, ... ORPHA:59315
Omodysplasia 2
Gastroesophageal reflux, Uterus didelphys, Cryptorchidism, Cleft palate, Labial hypoplasia, Micro... OMIM:164745
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go... OMIM:194072
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Oligomeganephronia
Elevated circulating creatinine concentration, Optic disc coloboma ORPHA:2260
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Ileus, Hypocalcemia, Recurrent gastroenteritis, Decreased circul... ORPHA:37042
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Ectopic... ORPHA:83628
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Steatorrhea OMIM:602579
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage ORPHA:79319
Multiple Endocrine Neoplasia Type 1
Peptic ulcer, Gastroesophageal reflux, Zollinger-Ellison syndrome, Hematemesis, Melena, Intestina... ORPHA:652
Generalized Pustular Psoriasis
Hypoalbuminemia, Hypocalcemia, Hyponatremia, Geographic tongue, Elevated circulating C-reactive p... ORPHA:247353
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Williams Syndrome
Precocious puberty, Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Abnormal circulat... ORPHA:904
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia OMIM:617914
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Infection-Related Hemolytic Uremic Syndrome
Gastrointestinal infarctions, Hypocalcemia, Hyponatremia, Hyperkalemia, Acute colitis, Intestinal... ORPHA:544482
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Timothy Syndrome
Hypocalcemia OMIM:601005
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... ORPHA:90794
Ethylene Glycol Poisoning
Gastritis, Hyperkalemia, Hypocalcemia ORPHA:31826
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia, Chorioretinal coloboma ORPHA:163961
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... ORPHA:91495
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Retinal detachment, Cleft palate, Remnants of the hyaloid vascular system ORPHA:2714
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Rectourethral fistula, Septate vagina, Ano... ORPHA:237
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Cleft palate, Bicornuate uterus OMIM:615300
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia, Esophageal v... ORPHA:275761
Oeis Complex
Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitalia, female, Ab... OMIM:258040
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Celiac Disease, Susceptibility To, 1
Steatorrhea, Celiac disease, Hypocalcemia OMIM:212750
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Recurrent infection of the gastrointestinal tract,... OMIM:301110
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Cryptorchidism, Retinal detachment, Micropenis, Optic disc pallor, Hypos... ORPHA:464311
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Hyperbilirubinemia, Optic atrophy, Hypocalcemia OMIM:259720
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level ORPHA:320
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Duodenal atresia OMIM:617798
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Pearson Syndrome
Pigmentary retinopathy, Hypomagnesemia, Median cleft palate, Hypocalcemia, Hypokalemia, Hypophosp... ORPHA:699
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Ehlers-Danlos Syndrome, Classic-Like, 1
Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Labial hypoplasia, Macular dystrophy, Anal atresia, Bicornuate uterus, Reti... ORPHA:140952
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Villous atrophy, Increased serum bile acid concentration, Hypo... OMIM:619377
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Papilledema, Retinal calcifica... ORPHA:93325
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Cleft palate ORPHA:247768
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma ORPHA:314478
Diarrhea 1, Secretory Chloride, Congenital
Elevated stool chloride content, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating ... OMIM:214700
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Elevated circulating creatinine concentration, Hyperuricemia, Atretic v... OMIM:137920
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hyperuricemia, Papillary cystadenoma of the epididymis, Hypospadias, Bicornu... ORPHA:93111
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Intestinal malrotation, Decreased testicular size, Cleft soft palate, Hypoplasia o... OMIM:619321
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Williams-Beuren Syndrome
Colonic diverticula, Gastroesophageal reflux, Retinal arteriolar tortuosity, Micropenis, Celiac d... OMIM:194050
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Fanconi Anemia, Complementation Group W
Duodenal atresia OMIM:617784
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Polycystic ova... ORPHA:90795
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Abnormality of retinal pigmentation, Hypocalcemia ORPHA:175
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate OMIM:619227
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Cyclopia, Septo-optic ... OMIM:301043
Juvenile Polyposis Of Infancy
Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Gastrointestinal hemorrhage, Protein-l... ORPHA:79076
Duodenal Atresia
Duodenal atresia ORPHA:1203
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus... OMIM:201750
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Adenomatous colonic polyposis, Uterine ... OMIM:617100
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Duodenal ulcer OMIM:217090
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Attenuation of retinal blood vessels, Cryptorchidism, Optic disc pallor, Hypospadia... ORPHA:468631
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria ORPHA:289157
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Chorioretinal scar, Choroidal neovascularization, Macular edema, Elevated circulat... ORPHA:91500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Hematemesis, Melena, Hyperkalemia ORPHA:340
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Gastroesophageal reflux, Furrowed tongue, Cryptorchidism, Coloboma, High palate, H... OMIM:616975
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Chorioretinal coloboma, Intestinal malrotation, Rec... OMIM:115470
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Decreased circulating carnitine conc... OMIM:219800
Townes-Brocks Syndrome 2
Bifid uterus, Anal atresia, Rectovaginal fistula, Hypospadias OMIM:617466
Infantile Nephropathic Cystinosis
Aminoaciduria, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentr... ORPHA:411629
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Hypocalcemia, Elevated circulating creatine kinase concentration, Retinal atrophy,... ORPHA:2785
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Esophageal spasms, Reduced haptoglobin level, Increased... ORPHA:447
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Anal atresia, Rod-cone dystrophy, Hypoplasia of the... OMIM:618419
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Retinal detachment OMIM:605822
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia ORPHA:3004
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Fryns Syndrome
Meckel diverticulum, Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aganglionic megacolon... OMIM:229850
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Cryptorchidism, Micropenis, Optic disc pallor, Hypospadias, Duodenal atr... ORPHA:464306
Bartter Syndrome, Type 3
Hyperchloriduria, Abnormal choroid morphology, Hypokalemia, Abnormal retinal vascular morphology,... OMIM:607364
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Pseudotrisomy 13 Syndrome
Cyclopia, Median cleft palate, Cryptorchidism, Micropenis, Anal atresia, Bicornuate uterus OMIM:264480
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, High palate, Bicor... ORPHA:958
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Micropenis, Hypospadias, Duodenal atresia, Cl... OMIM:257300
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Reduced circulating cortisol-binding globulin concentration OMIM:611489
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures, Hypergon... ORPHA:79444
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Intestinal obstruction, Aganglionic megaco... ORPHA:3440
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Furrowed tongue, Retinopathy, Hypokalemia, ... ORPHA:769
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Focal Dermal Hypoplasia
Gastroesophageal reflux, Iris coloboma, Duodenal atresia, Chorioretinal coloboma ORPHA:2092
Currarino Syndrome
Anal stenosis, Septate vagina, Anal fistula, Perianal abscess, Gastrointestinal obstruction, Anal... OMIM:176450
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
22Q11.2 Deletion Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormality of the uterus, I... ORPHA:567
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Ovarian neoplasm, Decreased circulating renin level ORPHA:231632
Charge Syndrome
Iris coloboma, Anal stenosis, Retinal coloboma, External genital hypoplasia, Hypocalcemia, Crypto... OMIM:214800
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Sarcoidosis
Parotitis, Enlargement of parotid gland, Abnormal reproductive system morphology, Abnormality of ... ORPHA:797
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Aminoaciduria OMIM:134600
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Hyperbilirubinemia, Increased serum bile acid concentrat... OMIM:227810
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Small scrotum, Gastroesophageal reflux, Intestinal malrotation, Hypocalcemia, Un... OMIM:613658
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odynophagia, Eos... OMIM:147060
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Protruding tongue, Aganglionic megacolon, C... ORPHA:870
Meckel Syndrome 12
Vaginal atresia, Bifid uvula, Hypoplasia of the uterus OMIM:616258
Feingold Syndrome
Esophageal atresia, Duodenal atresia ORPHA:1305
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate ORPHA:2736
Fg Syndrome Type 1
Gastroesophageal reflux, Abnormal large intestine morphology, Optic nerve hypoplasia, Cryptorchid... ORPHA:93932
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Stomach cancer, Intestinal polyposis, Ambiguous genitalia, Duodenal atresia, Cl... ORPHA:1052
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Igg4-Related Thyroid Disease
Sialadenitis, Dysphagia, Hypocalcemia ORPHA:64744
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Cryptorchidism, Micropenis, Hypospadias, Cleft palate ORPHA:163979
Atelis Syndrome 2
High palate, Gastroesophageal reflux, Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Streak ovary, Cryptorc... OMIM:618820
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Opitz Gbbb Syndrome
Bifid scrotum, Ankyloglossia, Cryptorchidism, Ectopic anus, Enlarged ovaries, Anal atresia, Dysph... ORPHA:2745
Fanconi Anemia, Complementation Group F
Duodenal atresia, Cryptorchidism, Microphallus OMIM:603467
Craniofacioskeletal Syndrome
Cleft palate, Hypospadias, Hypocalcemia, Cryptorchidism OMIM:300712
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Hypospadias, Precocious puberty, Gastroesophageal reflux, Septate ... OMIM:270400
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures, Hypergon... ORPHA:79443
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Gardner Syndrome
Gastrointestinal carcinoma, Adenomatous colonic polyposis, Prostate cancer, Ampulla of Vater carc... ORPHA:79665
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Bifid scrotum, Chorioretinal coloboma, Cryptorchidism, Tr... OMIM:107480
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Sotos Syndrome
Gastroesophageal reflux, Hypercalcemia, Cryptorchidism, Phimosis, Aganglionic megacolon, Hydrocel... ORPHA:821
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Sex reversal ORPHA:139466
Fanconi Anemia
Meckel diverticulum, Abnormality of the uterus, Aplasia/Hypoplasia of the uvula, Hypogonadism, Du... ORPHA:84
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
Jacobsen Syndrome
Intestinal malrotation, Cryptorchidism, Ectopic anus, Abnormality of the anus, Iris coloboma, Duo... ORPHA:2308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Tracheoesophag... OMIM:265380
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer ORPHA:3217
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Hypophosphatemia, Hypocalcemia ORPHA:667
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Anal atresia, Rectovaginal fistula, Bico... OMIM:300707
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal reti... ORPHA:649
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Miller-Dieker Lissencephaly Syndrome
Cleft palate, Cryptorchidism, Duodenal atresia OMIM:247200
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Anoperineal fistula, Villous atrophy, Crohn's disease, Gastritis, Elevated circu... OMIM:619381
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration, Abnormality of the gastrointestinal tract ORPHA:93126
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Juvenile Polyposis Syndrome
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hematochezia, Colon cancer, Stomach canc... ORPHA:2929
Cranioectodermal Dysplasia 1
High, narrow palate, High palate, Hypocalcemia, Retinal dystrophy OMIM:218330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Protein-losing enteropathy, Intestinal lymphangiectasia, Cryptorchidism, Narrow ... OMIM:235510
Mosaic Variegated Aneuploidy Syndrome 2
Duodenal atresia OMIM:614114
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... OMIM:119500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, High palate OMIM:615866
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Liver Disease, Severe Congenital
Aminoaciduria, Hypospadias, Protein-losing enteropathy, Increased circulating ferritin concentrat... OMIM:619991
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Duodenal adenocarcinoma, Duodenal polyposis, Congenital hypertrophy o... ORPHA:247806
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Duodenal stenosis ORPHA:2470
Woodhouse-Sakati Syndrome
Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ... OMIM:241080
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Full Nf2-Related Schwannomatosis
Abnormal optic nerve morphology, Epiretinal membrane, Remnants of the hyaloid vascular system, Dy... ORPHA:637
Nelson Syndrome
Hypokalemia, Optic nerve compression, Testicular neoplasm ORPHA:199244
Distal Deletion 12Q
High, narrow palate, Microglossia, Esophageal atresia, Micropenis, Unilateral cryptorchidism, Duo... ORPHA:96149
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Hamartoma of tongue, Septate vagina, Micropenis, Anal atresia, Esophageal diver... OMIM:617925
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum OMIM:140000
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Helix Syndrome
Hypokalemia, Hypermagnesemia, Xerostomia OMIM:617671
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Intestinal malrotation, Cryptor... ORPHA:99776
Feingold Syndrome 1
Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointestinal atresia, High pa... OMIM:164280
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Abnormal optic nerve morphology, Intestina... ORPHA:109
Bartsocas-Papas Syndrome 1
Absent external genitalia, Anal stenosis, Bilateral cryptorchidism, Hypoplastic labia majora, Amb... OMIM:263650
Hennekam Syndrome
Hypocalcemia, Pyloric stenosis ORPHA:2136
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Hyperlipidemia, Abnormal spermatogenesis, ... ORPHA:3464
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Leprechaunism
Megarectum, Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertroph... ORPHA:508
Familial Adenomatous Polyposis 1
Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps, Hepatoblastoma, Adenomatous... OMIM:175100
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Sialadeni... ORPHA:449395
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Optic disc hypoplasia, Duodenal polyposis, Hepatoblastoma, Adenomatous colon... ORPHA:261584
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Perianal dermatitis, Villous atrophy, Hypokalemia, Hypertriglyceridemia, Elev... OMIM:619573
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Velopharyngeal insufficiency, Endometriosis, Micropenis, Anal atresia, Hypospadias ORPHA:363444
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Hermansky-Pudlak Syndrome 6
Ocular albinism, Perineal fistula, Endometriosis, Macular hypoplasia, Anal atresia, Absent foveal... OMIM:614075
Mercury Poisoning
Hypokalemia ORPHA:330021
Alg9-Cdg
Bifid uvula, Gastroesophageal reflux, Villous atrophy, Hypoplasia of the ovary, Bicornuate uterus ORPHA:79328
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia, Lenticonus OMIM:104200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Tarp Syndrome
Optic atrophy, Cryptorchidism, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft ... ORPHA:2886
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bifid uvula, Small scrotum, Hypocalcemia, High palate, Optic nerve hypoplasia OMIM:620330
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Pagod Syndrome
Optic atrophy, Abnormality of the uterus, Abnormal morphology of female internal genitalia, Femal... ORPHA:991
Acrorenal-Mandibular Syndrome
Uterus didelphys, High palate, Unicornuate uterus, Narrow palate, Bicornuate uterus OMIM:200980
Johanson-Blizzard Syndrome
Hypospadias, Clitoral hypertrophy, Colonic diverticula, Anteriorly placed anus, Septate vagina, H... OMIM:243800
Beaulieu-Boycott-Innes Syndrome
Velopharyngeal insufficiency, Endometriosis OMIM:613680
Exstrophy-Epispadias Complex
Penoscrotal transposition, Anal stenosis, Bifid scrotum, Cystocele, Cryptorchidism, Abnormality o... ORPHA:322
Microphthalmia, Syndromic 2
Bifid uvula, Iris coloboma, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Retinal ... OMIM:300166
Acromelic Frontonasal Dysostosis
Cryptorchidism, Submucous cleft soft palate, Remnants of the hyaloid vascular system, Cleft palat... OMIM:603671
Ulnar-Mammary Syndrome
Abnormality of the uterus, Cryptorchidism, Ectopic anus, Anal atresia, Hypoplasia of penis, Pylor... ORPHA:3138
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Bifid uterus ORPHA:1521
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Retinal arterial occlusion, Ileitis... ORPHA:73263
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Stomach cancer, Duodenal adenocarcinoma, Duodenal polyposis, Conge... ORPHA:733
Fraser Syndrome
Small scrotum, Anal stenosis, Abnormal vagina morphology, Anorectal anomaly, Female pseudohermaph... ORPHA:2052
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Hypophosp... ORPHA:3337
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of... ORPHA:284339
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal small intestine morphology, Cryptorchidism, Micropenis, Abnormalit... OMIM:219000
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Cryptorchidism, Hiatus hernia, Abnormal duodenum morphology, Retinal deta... OMIM:601776
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, High palate, Cleft palate OMIM:170390
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hematemesis, Elevated circulat... ORPHA:99829
Peters Plus Syndrome
Optic atrophy, Iris coloboma, Intestinal fistula, Cryptorchidism, Anal atresia, Cleft palate, Hyp... ORPHA:709
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Gastroesophageal reflux, Azoospermia, Cryptorchidism, Hyponatremia, Hypokalemia, H... ORPHA:534
Diets-Jongmans Syndrome
Hypospadias, Cryptorchidism, Duodenal atresia OMIM:618846
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia majora, Hepatoblastoma, Micropenis, Macroglossia, B... OMIM:269150
Okamoto Syndrome
Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Intestinal malrotation,... ORPHA:2729
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, H... OMIM:614527
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Cleft soft palate, Hypocalcemia, Cryptorchidism, Micropenis, Unicornuate uterus, ... OMIM:619503
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, High palate OMIM:110100
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Hypokalemia, Ambiguous genitalia, Oligozoospermia ORPHA:786
Meckel Syndrome, Type 1
Elevated amniotic fluid alpha-fetoprotein, Abnormality of the uterus, Intestinal malrotation, Amb... OMIM:249000
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Gastroesophageal reflux, Increased circulating ferritin concentration, Elevated ... OMIM:619534
Holoprosencephaly 2
Bifid uvula, Chorioretinal coloboma, Median cleft palate, Submucous cleft hard palate, Bilateral ... OMIM:157170
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Whim Syndrome
Cervix cancer, Abnormal small intestine morphology, Parotitis ORPHA:51636
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Bicornuate uterus, Velopharyngeal insufficiency, Cleft palate OMIM:154400
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, High palate,... OMIM:135900
Digeorge Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Hypocalcemia, Ovarian cyst, High palat... OMIM:188400
Ulnar-Mammary Syndrome
Imperforate hymen, Small scrotum, Anal stenosis, Shawl scrotum, Micropenis, Anal atresia, Bicornu... OMIM:181450
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina OMIM:608978
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Anal atresia, Duodenal atresia OMIM:306955
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Increased serum bile acid concentration,... ORPHA:731
Peters-Plus Syndrome
Iris coloboma, Anteriorly placed anus, Retinal coloboma, Cryptorchidism, Hypoplastic labia majora... OMIM:261540
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Gastroesophageal reflux, Hyponatremia OMIM:618426
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Recurrent infection of the gastrointestinal tract ORPHA:83471
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Uterine rupture, Gastrointestinal infarctions, Cystocele, Cryptorchidism, Ut... ORPHA:286
Immunodeficiency 31C
Protein-losing enteropathy, Villous atrophy, Gastrointestinal eosinophilia, Intussusception OMIM:614162
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Anal atresia, C... OMIM:614083
Iniencephaly
Anal atresia, Duodenal atresia ORPHA:63259
Microsporidiosis
Glossitis, Abnormal endometrium morphology, Prostatitis, Abnormal fallopian tube morphology ORPHA:2552
Cowden Syndrome
Abnormal penis morphology, Abnormality of the uterus, Furrowed tongue, Endometrial carcinoma, Enl... ORPHA:201
Neuroocular Syndrome 1
Short uvula, Ankyloglossia, Submucous cleft hard palate, Hypoplasia of the fovea, Remnants of the... OMIM:619539
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... ORPHA:2879
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... ORPHA:512
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Duodenal atresia OMIM:270100
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Uterus didelphys, Cryptorchidism, Ectopic anus, Ambiguous genitalia, Anal atresia, Esophageal atr... ORPHA:93271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Decreased circulating iron concentration, Gastroesophageal reflux, Cryptorchi... ORPHA:438213
Townes-Brocks Syndrome
Iris coloboma, Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Anteriorly p... ORPHA:857
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Proximal Renal Tubular Acidosis
Hypokalemia, Coloboma, Aminoaciduria, Bicarbonaturia ORPHA:47159
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Anal atresia, Aplasia of the vagina OMIM:271520
Renal Agenesis
Anal atresia, Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Cleft palate ORPHA:3320
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... OMIM:241200
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Cleft palate OMIM:256520
Loeys-Dietz Syndrome
Bifid uvula, High palate, Uterine rupture ORPHA:60030
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology, Cleft palate OMIM:236680
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Distal Renal Tubular Acidosis
Hypokalemia, Aminoaciduria ORPHA:18
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Xerostomia, Cryptorchidism, Abnormal salivary gland morphology, Dysphagia, Bicornuat... ORPHA:2363
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla... ORPHA:2232
Tsh-Secreting Pituitary Adenoma
Male hypogonadism, Hypogonadism, Hypokalemia, Hypogonadotropic hypogonadism, Female hypogonadism ORPHA:91347
Cornelia De Lange Syndrome
Gastroesophageal reflux, Volvulus, Abnormality of the uterus, Intestinal malrotation, Cryptorchid... ORPHA:199
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Coloboma, High palate, B... OMIM:268300
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Cardiac-Urogenital Syndrome
Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia... OMIM:618280
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Limb-Mammary Syndrome
Bifid uvula, Submucous cleft soft palate, Aplasia of the ovary, Aplasia of the uterus, Cleft hard... ORPHA:69085
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Meckel diverticulum, Cleft palate OMIM:274000
Wolf-Hirschhorn Syndrome
Precocious puberty, Iris coloboma, Malrotation of small bowel, Gastroesophageal reflux, Cryptorch... OMIM:194190
Classical Ehlers-Danlos Syndrome
Gastroesophageal reflux, Uterine prolapse, Hiatus hernia, Cervical insufficiency, Rectal prolapse ORPHA:287
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Anal stenosis, Malrotation of small bowel, Anteriorly placed... OMIM:606170
Coffin-Lowry Syndrome
Narrow palate, High palate, Rectal prolapse, Uterine prolapse OMIM:303600
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, High palate, Cleft palate, Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Bifid uvula, Cystocele, Uterine prolapse, Eosinophilic infiltration of the esophagus, High palate... OMIM:613795
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Narrow palate, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genital... OMIM:276820
Pallister-Killian Syndrome
Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Intestinal malrotation, Crypto... OMIM:601803

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 Fads6

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 Fads6.

No publications found that use IMPC mice or data for Fads6.

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
Fads6tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Fads6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fads6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fads6tm147(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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