Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
glial cells missing homolog 2
Synonyms:
Gcm1-rs2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Gcm2 mutations

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

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

The table below shows human diseases associated to Gcm2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Gcm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:203330
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca... OMIM:618883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... ORPHA:2239
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Hypercalciuria,... ORPHA:99879
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... ORPHA:94090
Hypoparathyroidism, Familial Isolated, 1
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia OMIM:146200
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:603233
Hyperparathyroidism 4
Hypercalcemia, Parathyroid carcinoma, Nephrolithiasis, Osteopenia, Primary hyperparathyroidism OMIM:617343
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Nephrol... OMIM:612286
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst, Hyperparathyroidism, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Hypophosphatemic Rickets And Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalcemia, Rickets, Hypophosphatemia, Renal p... OMIM:612089
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Rickets, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Osteopeni... OMIM:613388
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Osteoporosis, Renal calcium wasting, Osteopenia, Hypercalciuria ORPHA:2197
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Nephrol... OMIM:612287
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Nephrocalcinosis, Renal tubular acidosis, Hyperparathyroidism, Hypercalciuria OMIM:239199
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Pancreatitis, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia... OMIM:145980
Parathyroid Carcinoma
Hypercalcemia, Parathyroid carcinoma, Hyperparathyroidism OMIM:608266
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Reduced bone mineral density, Decreased cir... ORPHA:157215
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Congenital hypoparathyroidism, Hypocalcemic tetany, H... ORPHA:93324
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypoparathyroidism, Hyperphosphaturia, Hip contracture, Nephrocalcinosis, Hypophos... OMIM:156400
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemia, Renal phosphate wasting, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphatemia, Parathyroid hyp... OMIM:617994
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Delayed epip... OMIM:300554
Dent Disease 1
Hyperphosphaturia, Thin bony cortex, Aminoaciduria, Rickets, Nephrocalcinosis, Proximal tubulopat... OMIM:300009
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Rickets, Lacticaciduria, Hypophosphatemia,... OMIM:134600
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Pancreatitis, Nephrolithia... OMIM:600740
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral... ORPHA:36913
Wilson Disease
Hyperphosphaturia, Hypoparathyroidism, High nonceruloplasmin-bound serum copper, Renal tubular dy... OMIM:277900
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Nephropathy, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia ORPHA:2238
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Decreased c... OMIM:601198
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypercalcemia, Decreased circulat... ORPHA:94086
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Hypophosphatemia, Abnormal bone structure, Nephrolithiasis, Coarse metaphyseal trabecu... ORPHA:93160
Hypoparathyroidism, X-Linked
Congenital hypoparathyroidism, Abnormality of the neck OMIM:307700
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Parathyroid carcinoma, Hurthle cell thyroid adenoma, Recurrent pancreatitis, Pancr... OMIM:145001
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Rickets, Hypercalciuria, Distal renal tubular acidosis OMIM:602722
Dent Disease
Rickets, Tubulointerstitial fibrosis, Hyperuricosuria, Non-acidotic proximal tubulopathy, Renal h... ORPHA:1652
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Adrenal hypoplasia, Micropenis, Cryptorchidism, Decreased response to... OMIM:614732
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Hypoc... ORPHA:94089
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypocalcemia, Hypohidrosis, Nephropathy, Hypothyroidism, Renal insufficiency ORPHA:1563
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Hypocalcemic seizures, Patchy osteosclerosis, Decreased response t... OMIM:241410
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia ORPHA:89937
Hypophosphatemic Bone Disease
Osteomalacia, Hypophosphatemia, Rickets OMIM:146350
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Calcinosis, Ami... OMIM:239200
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Patchy osteosclerosis, Hypocalcemia, Cryptorch... ORPHA:2323
Hypophosphatemic Rickets
Rickets, Fibrous dysplasia of the bones, Hypophosphatemia, Patchy variation in bone mineral densi... ORPHA:437
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossifi... OMIM:241530
Calciphylaxis
Stage 5 chronic kidney disease, Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossific... ORPHA:280062
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Thickened cortex of long bones, Increased bone mineral density, Hypocalcemia,... OMIM:127000
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... ORPHA:3143
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Calvarial osteosclerosis, Hypomagnesemia, Decreased skull ossifica... OMIM:244460
Hypophosphatasia, Infantile
Decreased calvarial ossification, Hypercalcemia, Death in infancy, Elevated urine pyrophosphate, ... OMIM:241500
Progressive Osseous Heteroplasia
Osteoarthritis, Abnormality of the parathyroid gland, Ectopic ossification in muscle tissue, Limi... ORPHA:2762
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... ORPHA:3337
Beta-Thalassemia Intermedia
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Elevated hepatic iron... ORPHA:231222
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... OMIM:612462
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Pancreatitis, Nephrolithiasis, Parathormone-independent increased renal tubular ca... OMIM:145981
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Hypercalcemia, Hypercalciuria, Thyroid carcinoma,... ORPHA:99880
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Generalized aminoaciduria, Thin bony cortex, Hypo... OMIM:264700
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Pancreatitis, Nephrolithiasis, Parathormon... ORPHA:405
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Rickets, Nephrocalcinosis, Renal tubular acidosis, ... ORPHA:2088
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Generalized aminoaciduria, Thin bony cortex, Hypo... ORPHA:289157
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Hypocalcemic seizures, Parathyroid hypoplasia, Diabetes mellitus, Hypocalcemia ORPHA:2237
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Renal tubular acidosis, Pathologic fracture, Hypocalcemia, Osteomalacia OMIM:179800
Cystinosis
Renal tubular dysfunction, Hypokalemia, Rickets, Hypophosphatemia, Nephrogenic diabetes insipidus... ORPHA:213
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Hypercalcemia, Calcium nephrolithiasis, Neoplasm of the thymus, Increase... ORPHA:97289
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Hypercalcemia, Thyroid carcinoma, Parathyroid car... ORPHA:143
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Renal salt wasting, Hyperactive renin-angiotensin system, Renal juxtaglomerular ce... OMIM:601678
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Premature ovarian insuffici... ORPHA:85138
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... OMIM:103580
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Renal tubular dysfunction, Generalized aminoaciduria, Hypokalemi... OMIM:227810
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Generalized bone demine... ORPHA:199299
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Thin bony cortex, Hypocalcemic seizures, Rickets,... OMIM:277440
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Mccune-Albright Syndrome
Increased serum testosterone level, Renal tubular dysfunction, Goiter, Fibrous dysplasia of the b... ORPHA:562
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
2P21 Microdeletion Syndrome
Hypogonadism, Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Hyperaldosteronism, Hypercal... OMIM:613677
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Renal tubular dysfunction, Hypophosphatemia, Rena... OMIM:307800
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria OMIM:143880
Mccune-Albright Syndrome
Increased circulating cortisol level, Polyostotic fibrous dysplasia, Pathologic fracture, Pituita... OMIM:174800
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Oncogenic Osteomalacia
Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypopho... ORPHA:352540
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
Primary hyperparathyroidism OMIM:600166
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypomagnesemia, Recurrent urinary tract... OMIM:248190
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Proximal tu... ORPHA:411634
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Rickets, Nephrocalcinosis, Proximal tubulopathy, I... ORPHA:18
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Congenital hypoparathyroidism, Hyp... ORPHA:93325
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Hypothyroidism, Hypocalcemia, Cryptorchidis... OMIM:618440
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Recurrent fractures... OMIM:600081
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hyperparathyroidism, Osteopenia OMIM:618107
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Abnormality of the kidney, Reduced bone mineral density ORPHA:2611
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... ORPHA:251274
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hypokalemia, Rickets, Abnor... ORPHA:411629
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Nephropathy OMIM:247410
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Reduced bone mineral density, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, H... ORPHA:428
Helix Syndrome
Hypokalemia, Xerostomia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Polyuria, Hypohidro... OMIM:617671
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypoparathyroidism, Nephrocalcinosis, Abnormality of the urinary system, Renal dys... ORPHA:369837
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Nephrocalcino... OMIM:240300
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dyspl... OMIM:146255
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... ORPHA:53
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypoparathyroidism, Nephrotic syndrome, Nephritis, Stag... OMIM:301050
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... ORPHA:457059
Alpha-Heavy Chain Disease
Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Rickets, Fibrous dysplasia of the bones, Increased circulating cortisol level,... ORPHA:249
Kearns-Sayre Syndrome
Renal Fanconi syndrome, Hypoparathyroidism, Renal tubular acidosis, Primary adrenal insufficiency... OMIM:530000
Bartter Syndrome, Type 3
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... OMIM:607364
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Osteoporosis, Diabete... ORPHA:231226
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Hypercalcemia, Pheochromocytoma, Hypercalciuria, ... ORPHA:653
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Nephropathy, Deafness, And Hyperparathyroidism
Renal insufficiency, Hyperparathyroidism, Nephropathy, Parathyroid hyperplasia OMIM:256120
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... ORPHA:79444
Double Outlet Right Ventricle
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Hypocalcemia ORPHA:3426
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Increased... OMIM:171400
Digeorge Syndrome
Parathyroid agenesis, Cholelithiasis, Decreased circulating parathyroid hormone level, Parathyroi... OMIM:188400
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag... ORPHA:73224
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Nephrolithiasis, Cystinuria, Hypocalcemia, Decreased response to ... OMIM:606407
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/... OMIM:241200
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... OMIM:610755
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Craniosynostosis, Pseudo-fractures, Abnormal t... ORPHA:289176
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Reduced bone mineral... ORPHA:652
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubula... ORPHA:47159
Refractory Celiac Disease
Hypoproteinemia, Osteoporosis, Hypophosphatemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Beta-Thalassemia Major
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Osteoporosis, Diabete... ORPHA:231214
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Pathologic fracture, Osteomyelitis, In... OMIM:259700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Congenital hypothyroidism, Renal salt wasting, Cryptorchidism, Precoc... OMIM:614736
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... OMIM:104200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Hyperbilirubinemia, Stillbirth, Absence of renal corticomedullary differentiation,... OMIM:259720
Pearson Syndrome
Adrenal insufficiency, Hypoparathyroidism, Hypokalemia, Lacticaciduria, Decreased response to gro... ORPHA:699
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Hyperostosis, Decre... OMIM:211900
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia ORPHA:746
Hamamy Syndrome
Hypoparathyroidism, Craniosynostosis, Cryptorchidism, Osteopenia OMIM:611174
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... ORPHA:79443
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... OMIM:612780
Igg4-Related Thyroid Disease
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotoxicosis with... ORPHA:64744
Microlissencephaly-Micromelia Syndrome
Fetal pyelectasis, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level ORPHA:50810
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Osteoporosis, Renal cyst, Osteopenia, Ureteral stenosis, Hypercalciuria OMIM:615398
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... ORPHA:89938
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria ORPHA:284400
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Osteoporosis, Hyperuricemia, Increased bone mine... OMIM:239000
Primary Hyperoxaluria
Hyperoxaluria, Nephrocalcinosis, Generalized osteosclerosis, Calcium oxalate nephrolithiasis, Hem... ORPHA:416
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Xerostomia, Osteopenia, Graves disea... ORPHA:227982
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Increased circulating cortic... OMIM:610600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hypocalcemia OMIM:618476
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Hypophosphatemia, ... ORPHA:89936
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Brain-Lung-Thyroid Syndrome
Hypospadias, Hypoparathyroidism, Congenital hypothyroidism, Megacystis, Thyroid hemiagenesis, Ele... ORPHA:209905
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Pseudohy... ORPHA:280651
Pendred Syndrome
Thyroid carcinoma, Goiter, Hyperparathyroidism, Hypothyroidism, Nephropathy ORPHA:705
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis, Death in infancy OMIM:600329
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Neoplasm of the pancreas, Limitation of joint mobility, Abnormality of ... ORPHA:2591
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Rickets, Glycosuria, Diabetes mellitus, Aminoa... OMIM:616026
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Decreased growth hormo... OMIM:101800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Generalized bone demineralization, Thin bony cort... OMIM:600785
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism... OMIM:618183
Uremic Pruritus
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... ORPHA:94059
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... ORPHA:564178
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Melas
Hypoparathyroidism, Focal segmental glomerulosclerosis, Type II diabetes mellitus, Proximal tubul... ORPHA:550
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Hypogonadotropic hy... OMIM:300200
East Syndrome
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyperaldosteronism, Abnorm... ORPHA:199343
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypercalcemia, Adenoma sebaceum, Increased circulating cortisol level, In... OMIM:131100
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperald... ORPHA:534
Gitelman Syndrome
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Parath... ORPHA:358
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... ORPHA:31824
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Renal salt wasting, Increase... OMIM:203400
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... ORPHA:913
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... OMIM:264350
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Hypocalcemia ORPHA:1438
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Hypocalcemia OMIM:192430
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Hypocalcemia, Gonadotropin deficiency, Parathy... OMIM:214800
Gracile Bone Dysplasia
Decreased skull ossification, Micropenis, Hypocalcemia OMIM:602361
Oculocerebrodental Syndrome
Hypercalcemia, Nephrocalcinosis, Hypocalcemia ORPHA:557003
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Urinary rete... ORPHA:79102
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Lambert Syndrome
Branchial anomaly ORPHA:1296
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Craniosynostosis, Proteinuria, Increased blood urea nitroge... ORPHA:251004
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Non-Functioning Paraganglioma
Hypercalcemia, Episodic hyperhidrosis, Elevated urinary dopamine, Elevated urinary epinephrine, H... ORPHA:94080
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Glycosuria, Aminoaciduria, Proteinuria OMIM:615605
Pseudopseudohypoparathyroidism
Short neck, Pseudohypoparathyroidism, Delayed eruption of teeth OMIM:612463
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypochloremia, Decrea... OMIM:613090
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Elevated urinary norepinephrine, Hyperhidrosis, Pheochromocytoma, Proteinuria OMIM:171420
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... OMIM:166600
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Cryptorchidism, Abnormal localization of kidney, Abnormality of the parathyroi... ORPHA:3429
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hydronephrosis, Death in infancy, Thyroid lymphangiectasia, Micropenis, Pancreat... OMIM:235255
Gitelman Syndrome
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potassium wasting, Nocturia, Enuresis, Increase... OMIM:263800
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Renal sodium wasting, Elevat... ORPHA:556037
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hashimoto thyroiditis, Hypoparathyroidism, Decreased response to growth hormone stimulation test OMIM:618223
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Dubowitz Syndrome
Hypospadias, Hypoparathyroidism, Hydronephrosis, Craniosynostosis, Cryptorchidism, Joint hyperfle... ORPHA:235
Raine Syndrome
Hydronephrosis, Neonatal death, Hypophosphatemia, Arthrogryposis multiplex congenita, Increased b... OMIM:259775
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Cryptorchidism, Micropenis, Hypocalcemia OMIM:607143
Osteopetrosis With Renal Tubular Acidosis
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Osteo... ORPHA:2785
Celiac Disease, Susceptibility To, 1
Rickets, Osteoporosis, Thyroiditis, Type I diabetes mellitus, Hypocalcemia, Delayed puberty OMIM:212750
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Hypoparathyroidism, Hypoplasia of the thymus, Cholelithiasis, Arth... ORPHA:567
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... OMIM:613845
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:175500
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
X-Linked Agammaglobulinemia
Arthritis, Hypocalcemia, Osteomyelitis ORPHA:47
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Hereditary Fructose Intolerance
Episodic hyperhidrosis, Chronic kidney disease, Hypophosphatemia, Hyperuricemia, Hypermagnesemia,... ORPHA:469
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism OMIM:619406
Hypophosphatasia
Hypercalcemia, Recurrent fractures, Craniosynostosis ORPHA:436
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Renal sodium wasting, Elevat... ORPHA:556030
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephropa... ORPHA:37042
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypochloremia, Decrea... OMIM:602522
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Medullary Thyroid Carcinoma
Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevated calcitonin, Hy... ORPHA:1332
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Midshaf... ORPHA:289548
Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Proxi... ORPHA:427
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Midshaf... ORPHA:168558
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... ORPHA:173
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Fructose Intolerance, Hereditary
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Hyperbilirubi... OMIM:229600
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis, Hypophosphatemic rickets OMIM:613312
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201910
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Hypocalcemic seizures, Osteopetrosis, Abnormal trabecular bone morphology, Deat... OMIM:612301
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentr... ORPHA:730
Familial Glucocorticoid Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal ... ORPHA:361
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, E... ORPHA:276621
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Ppoma
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... ORPHA:97278
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria ORPHA:69077
Vipoma
Adrenocortical adenoma, Hypercalcemia, Hypokalemia, Increased circulating cortisol level, Neoplas... ORPHA:97282
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Hypophosphatemia, Reduced bone mineral density, Hypocalcemia, Re... ORPHA:667
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Neoplasm of the adrenal cortex, Pitu... ORPHA:163634
Familial Visceral Myopathy
Megacystis, Hyperparathyroidism, Camptodactyly of finger, Vesicoureteral reflux, Joint stiffness,... ORPHA:2604
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:35710
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... ORPHA:284426
Grfoma
Adrenocortical adenoma, Pheochromocytoma, Hypercalcemia, Neoplasm of the thymus, Increased circul... ORPHA:97261
Acute Adrenal Insufficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hype... ORPHA:95409
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Hypernatriuria, Decreased circulating cortisol level OMIM:103230
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hydronephrosis, Micropenis, Pancreatic lymphangiectasis, Abnormal renal morpholo... ORPHA:1655
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Proteus-Like Syndrome
Hyperostosis, Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland ORPHA:2969
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Nephroca... ORPHA:320
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... ORPHA:90791
Somatostatinoma
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... ORPHA:97283
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Decreased urine output, Anuria, Pancreatitis, Septic arthritis, Acute... ORPHA:544482
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithel... ORPHA:31826
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, E... ORPHA:29072
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Unconjugated hyperbilirubinemia, Rickets, Bile duct proliferation, Hypocalcemia... OMIM:613658
Williams Syndrome
Synostosis of joints, Increased bone mineral density, Hypercalciuria, Abnormality of the bladder,... ORPHA:904
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Ureteral duplication, Congenital megaureter,... ORPHA:116
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Limited elbow extension, Hypocalcemia, Abnormal bone ossification, Abnorma... ORPHA:175
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Osteoporosis, Hypocalcemia, Chronic kidney disease, Sagittal cranio... OMIM:218330
Leprechaunism
Central hypothyroidism, Hypokalemia, Long penis, Nephrocalcinosis, Enlarged ovaries, Hyperaldoste... ORPHA:508
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... ORPHA:85450
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Abnormal... ORPHA:1031
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... OMIM:174000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Increased circulating androstenedione concentration, Testicul... ORPHA:90795
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Cryptorchidism ORPHA:1131
Williams-Beuren Syndrome
Micropenis, Diabetes mellitus, Enuresis, Hypercalciuria, Radioulnar synostosis, Hypercalcemia, Ne... OMIM:194050
Pheochromocytoma
Hypercalcemia, Elevated urinary norepinephrine, Hyperhidrosis, Pheochromocytoma, Proteinuria, Ren... OMIM:171300
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Sarcoidosis
Hypercalcemia, Bone cyst, Tubulointerstitial nephritis, Diabetes insipidus, Nephrocalcinosis, Nep... ORPHA:797
Osteogenesis Imperfecta
Fractures of the long bones, Increased susceptibility to fractures, Osteoporosis, Abnormal cortic... ORPHA:666
Visceral Steatosis, Congenital
Neonatal death, Renal steatosis, Hypocalcemia OMIM:228100
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Hyperbilirubinemia, Absent gallbladder, Micropenis, Hypocalcemia, Cr... ORPHA:163979
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Cryptorchidism, Abnormality of the endocrine system, Short neck ORPHA:464288
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Glucagonoma
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... ORPHA:97280
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypokalemia, Increased urinary potassium, Decreased circulating renin level,... ORPHA:231580
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Cryptorchidism ORPHA:435938
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short neck, Pseudohypoparathyroidism OMIM:617157
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Bone cyst, Arthritis, Hypercalciuria, Enlarged lacrimal glands OMIM:181000
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Absent gallbladder, Hypocalcemia, Cryptorchidism OMIM:300712
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Osteopenia, Recurrent fractures, Precocious puberty, Hypopho... OMIM:163200
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Joint hypermobility, Renal dysplasia, Hypercalciuria, Nephrocalcinosis OMIM:300990
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Neoplasm of the adrenal gland, Hypokalemia, Decreased circulating renin level, Increased urinary ... ORPHA:231625
Mastocytosis
Hypercalcemia, Recurrent fractures, Osteoporosis ORPHA:98292
Branchiootorenal Syndrome 1
Euthyroid goiter, Branchial fistula, Branchial cyst OMIM:113650
Hennekam Syndrome
Horseshoe kidney, Craniosynostosis, Camptodactyly of finger, Hypocalcemia, Ectopic kidney ORPHA:2136
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Rothmund-Thomson Syndrome Type 1
Calcinosis, Osteopenia, Hypogonadism, Abnormal trabecular bone morphology, Finger symphalangism, ... ORPHA:221008
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Recurrent urinary tract infections, Thyroiditis, Hypo... ORPHA:83471
Multiple Endocrine Neoplasia, Type Iib
Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, Parathyroid hyperplasia, Pheoch... OMIM:162300
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Medullary thyroid carcinoma ORPHA:122
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Hypoplastic nipples, Increased VLDL cholesterol concentration, Ureth... OMIM:243800
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Exocrine pancreatic insufficiency, Hypercalciuria, Microscopic nephrocalcinosis OMIM:219721
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Distal renal tubular acidosis OMIM:259730
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Hypermagnesiuria ORPHA:34527
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Osteopenia, Hypocalciuria, Hypoplastic sweat glands, Joint laxity ORPHA:73223
Rothmund-Thomson Syndrome Type 2
Calcinosis, Pathologic fracture, Abnormal trabecular bone morphology, Osteopenia, Finger symphala... ORPHA:221016
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Branchial anomaly, Increased nuchal translucency, Hypothyroidism, Cryptorchidism ORPHA:453499
Rothmund-Thomson Syndrome
Calcinosis, Increased susceptibility to fractures, Osteopenia, Abnormal trabecular bone morpholog... ORPHA:2909
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Hyperphosphaturia, Aminoaciduria, Rickets, Elevated maternal serum alpha-... OMIM:309000
Holoprosencephaly
Diabetes insipidus, Branchial anomaly, Short neck, Panhypopituitarism, Diabetes mellitus, Anterio... ORPHA:2162
Microsporidiosis
Adrenocortical abnormality, Prostatitis, Nephritis, Urethritis, Pancreatitis, Osteomyelitis, Thyr... ORPHA:2552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Hip contracture, Thyroid hypoplasia, Pelvic kidney, Decreased response to growth... OMIM:619503
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hypercalciuria, Pancreatitis OMIM:219700
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Tyrosinemia, Type I
Renal Fanconi syndrome, Elevated urinary delta-aminolevulinic acid, Nephrocalcinosis, Hypertyrosi... OMIM:276700
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Branchial anomaly, Increased nuchal translucency, Hypothyroidism, Cryptorchidism,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Branchial anomaly, Increased nuchal translucency, Hypothyroidism, Cryptorchidism,... ORPHA:352665
Bor Syndrome
Branchial cyst ORPHA:107
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Abnormal penis morphology, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone mo... ORPHA:2658
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Primary adrenal insufficiency, Hypercholesterolemia, Abnormal urine p... ORPHA:275761
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence ORPHA:476126
Treacher-Collins Syndrome
Thyroid hypoplasia, Branchial fistula, Hypoplasia of the thymus, Abnormality of the adrenal gland... ORPHA:861
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoalbu... ORPHA:88673
Monosomy 13Q34
Fetal pyelectasis, Infantile hypercalcemia ORPHA:96168
Desmosterolosis
Renal hypoplasia/aplasia, Osteopetrosis, Renal agenesis, Increased bone mineral density ORPHA:35107
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Secondary hyperparathyroidism, Abnormality o... ORPHA:273
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... OMIM:220110
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Oligomeganephronia
Branchial cyst ORPHA:2260
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... ORPHA:436271
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pheochromocytoma, Renal cell carcinoma, Renal cyst, Stage 5 chronic k... ORPHA:805
Gaisböck Syndrome
Hyperproteinemia, Nephrocalcinosis, Gout, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus,... ORPHA:90041
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Low posterior hairline, Cryptorchidism, Webbed neck ORPHA:261337
Craniofacial Microsomia
Branchial anomaly OMIM:164210
Sotos Syndrome
Hypospadias, Ankle flexion contracture, Hypercalcemia, Ureteral duplication, Bilateral camptodact... ORPHA:821
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula ORPHA:261330
Branchiooculofacial Syndrome
Ectopic thymus tissue, Branchial anomaly, Cryptorchidism, Low posterior hairline, Short neck, Sup... OMIM:113620
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hyperphosphaturia, Nephrocalcinosis, Pancreatic calci... ORPHA:51608
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Spina bifida occulta, Short neck ORPHA:508488
Neurofibromatosis, Type I
Parathyroid adenoma, Pheochromocytoma OMIM:162200

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 Gcm2

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 Gcm2.

No publications found that use IMPC mice or data for Gcm2.

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MGI Allele Allele Type Produced
Gcm2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gcm2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gcm2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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