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Gene: Cdc73 MGI:2384876

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cell division cycle 73, Paf1/RNA polymerase II complex component
Synonyms:
Hrpt2,  C130030P16Rik,  8430414L16Rik

Order Alleles

IMPC Data Collections

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

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.

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 Cdc73 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 predicted to be associated to Cdc73 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Papi... OMIM:145001
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Hyperparathyroidism 4
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Solitary Fibrous Tumor
Vaginal neoplasm, Soft tissue neoplasm, Reduced C-peptide level, Genital neoplasm, Neoplasm of th... ORPHA:2126
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... ORPHA:276152
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Renal cell carcinoma, Uterine leiomyoma,... OMIM:150800
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Fibroma, Primary ... ORPHA:99880
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Fibroma, Primary ... ORPHA:143
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... ORPHA:97289
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Diffuse Neonatal Hemangiomatosis
Visceral angiomatosis, Abnormal vagina morphology, Hypercalcemia, Hemangiomatosis ORPHA:2123
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia ORPHA:2668
Familial Isolated Hyperparathyroidism
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... ORPHA:99879
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 level, Elevated circulat... ORPHA:370348
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Hyperhidrosis, Neoplasm of the lung... ORPHA:1332
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis OMIM:145980
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Muir-Torre Syndrome
Endometrial carcinoma, Renal neoplasm, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... ORPHA:587
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypopl... OMIM:614732
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal circul... ORPHA:2238
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... ORPHA:220460
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Hypercalcemia, Gingival ... ORPHA:2591
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
Primary hyperparathyroidism OMIM:600166
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Parathyroid hyp... OMIM:617994
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... ORPHA:2239
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Granulomatous Slack Skin
Lymphoma, Hypercalcemia, Hodgkin lymphoma ORPHA:33111
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Pancreatitis OMIM:145981
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... ORPHA:90790
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Elevated circ... ORPHA:249
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... ORPHA:157798
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Precocious pub... OMIM:175200
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Pseudo... OMIM:612462
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Primary hyperparathyroidism, Hypermagnesemia... OMIM:600740
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske... ORPHA:653
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Hypercalcemia, Sarcoma ORPHA:69077
Ring Chromosome 12 Syndrome
Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Hypothyroidism, Breast hypo... ORPHA:1439
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Micrognathia, Visceral angiomatosis, Lymphoma, Hamartomatous poly... ORPHA:109
Blue Diaper Syndrome
Decreased circulating T4 concentration, Hyperphosphatemia, Elevated circulating thyroid-stimulati... ORPHA:94086
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Elevated circulating parathyroid hormone level, Seconda... OMIM:277440
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... ORPHA:97261
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... ORPHA:97278
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:603233
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi... OMIM:618117
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... ORPHA:1018
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism OMIM:618107
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... OMIM:618883
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Hypocalcemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Calvarial osteos... ORPHA:93324
Adamantinoma
Hypercalcemia ORPHA:55881
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Soft tissue sarcoma, Adrenocortical carcinoma, Breast carcinoma, Acute ... OMIM:151623
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Bladder neoplasm ORPHA:284400
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia ORPHA:93160
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... ORPHA:289157
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97283
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia, Hyperhidrosis OMIM:171420
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619665
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Calciphylaxis
Hyperphosphatemia, Secondary hyperparathyroidism ORPHA:280062
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... OMIM:239200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... ORPHA:199299
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... ORPHA:94090
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Cryptor... ORPHA:2323
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia OMIM:617671
Hypercalcemia, Infantile, 1
Hypercalcemia, Decreased circulating parathyroid hormone level OMIM:143880
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Germ cell neoplasia, Elevat... ORPHA:90797
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Leydig Cell Hypoplasia
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... ORPHA:755
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Addison Disease
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... ORPHA:85138
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Episodic hyperhidrosis, Hypercalcemia, Paraganglioma ORPHA:94080
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho... OMIM:617690
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma OMIM:612591
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Hypopl... OMIM:614841
Oculoskeletodental Syndrome
Hypercalcemia, Enamel hypoplasia, Retrognathia, Hypocalcemia ORPHA:557003
Hypoparathyroidism, X-Linked
Congenital hypoparathyroidism OMIM:307700
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97280
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Micrognathia, Hypercalcemia, Hypophosphatemia OMIM:156400
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Hypothy... OMIM:240300
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development OMIM:618078
Lynch Syndrome 8
Endometrial carcinoma OMIM:613244
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hyperca... ORPHA:29072
Oculoskeletodental Syndrome
Cryptorchidism, Hypercalcemia, Hypothyroidism, Hypocalcemia OMIM:618440
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Exostoses OMIM:616482
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Pheochromocytoma
Hypercalcemia, Hyperhidrosis, Neoplasm, Pheochromocytoma, Hemangioma OMIM:171300
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Kenny-Caffey Syndrome, Type 1
Carious teeth, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Calvarial osteosclerosis OMIM:244460
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism OMIM:618188
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... ORPHA:276621
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Hypoammonemia, Micrognathia, Hyponatremia, Abnormal d... ORPHA:534
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... ORPHA:201
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia, Hypohidrosis ORPHA:1563
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... ORPHA:36913
Familial Visceral Myopathy
Hyperparathyroidism, Micrognathia ORPHA:2604
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty OMIM:300510
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251636
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Mandibular prognathia, Endometrial carcinoma, Breast carcinoma, Melanoma, Hypothyroidism ORPHA:457212
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone lev... OMIM:103580
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Abnormal circulating ho... ORPHA:314478
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Abnormal circulating follicle-stimulating hormone co... ORPHA:93325
Progressive Familial Intrahepatic Cholestasis
Neoplasm, Hypocalcemia ORPHA:172
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Abnormality of iron h... ORPHA:231222
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Hypophosphatasia
Hypercalcemia ORPHA:436
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Micrognathia, Precocious puberty, Renal ... ORPHA:369837
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Abnormal dental enamel morphology, Hypercalcemia, Increased blood urea nitrogen, Dela... ORPHA:251004
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... ORPHA:2975
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... OMIM:615363
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Pse... ORPHA:94089
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Adrenal hypoplasia, Hyperkalem... ORPHA:95409
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Alpha-Heavy Chain Disease
Lymphoma, Hypocalcemia ORPHA:100025
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... ORPHA:157794
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia OMIM:266810
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti... ORPHA:231632
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Steinert Myotonic Dystrophy
Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonadism, Decreased response to grow... ORPHA:273
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test OMIM:606407
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Elevated circulating thyroid-st... OMIM:618183
Cowden Syndrome 1
Hyperthyroidism, Subcutaneous lipoma, Micrognathia, Hypoplasia of the maxilla, Fibroadenoma of th... OMIM:158350
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to grow... ORPHA:79444
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Adrenal insufficiency, Abnormality of ir... ORPHA:231226
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypocalcemi... ORPHA:1655
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Micrognathia, Persistence of primary teeth, H... ORPHA:2785
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia, Acute myeloid leukemia, Myelodysplasia OMIM:619151
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Retrognathia, Hypocalcemia OMIM:192430
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ... ORPHA:79445
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... ORPHA:137608
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Eruption failure, Hypercalcemia, Micrognathia ORPHA:476126
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... ORPHA:83469
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ... ORPHA:90794
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Pancreatitis, Hypocalcemic seizures ORPHA:405
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Adrenal insufficiency, Abnormality of ir... ORPHA:231214
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration ORPHA:50810
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Monosomy 13Q34
Hypercalcemia, Micrognathia ORPHA:96168
Double Outlet Right Ventricle
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Hypocalcemia ORPHA:3426
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Abnormality of the thy... ORPHA:209905
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Decreased ... OMIM:615300
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm ORPHA:2221
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Hypophosphat... ORPHA:352540
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency OMIM:530000
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Gardner Syndrome
Brain neoplasm, Astrocytoma, Papillary thyroid carcinoma, Prostate cancer, Hepatoblastoma, Fibros... ORPHA:79665
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Hypoparathyroidism ORPHA:496756
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Micrognathia OMIM:601076
Pseudohypoparathyroidism Type 1A
Calcinosis, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to grow... ORPHA:79443
Dubowitz Syndrome
Hypoparathyroidism, Delayed eruption of teeth, Hypospadias, Micrognathia, Cryptorchidism, Lymphom... ORPHA:235
Hamamy Syndrome
Hypoparathyroidism, Micrognathia, Cryptorchidism, Dental malocclusion, Enamel hypoplasia OMIM:611174
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism OMIM:247410
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Ovarian gonadoblastoma OMIM:136680
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia ORPHA:746
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia... OMIM:235255
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Retrognathia, Pseudohypoparathyroidism ORPHA:464288
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula... ORPHA:90796
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... ORPHA:227982
Fanconi Anemia, Complementation Group S
Dental malocclusion, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm OMIM:617883
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatinine concentration, Agon... OMIM:154230
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Cholelithiasis, Increased glucagon level, Glucagonoma ORPHA:438274
Intermediate Osteopetrosis
Osteosclerosis of the base of the skull, Dental malocclusion, Hypocalcemia ORPHA:210110
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Ring Chromosome 10 Syndrome
Hypocalcemia, Micrognathia ORPHA:1438
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Hamartomatous polyposis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Refractory Celiac Disease
Hypomagnesemia, Lymphoma, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Increased serum t... ORPHA:247768
Albers-Schönberg Osteopetrosis
Carious teeth, Mandibular osteomyelitis, Hypocalcemia ORPHA:53
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... ORPHA:550
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormal dental enamel morphology, Malar flatte... ORPHA:567
X-Linked Agammaglobulinemia
Sinusitis, Neoplasm, Hypocalcemia ORPHA:47
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland, Micrognathia ORPHA:3429
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovari... ORPHA:2969
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Celiac Disease, Susceptibility To, 1
Lymphoma, Thyroiditis, Hypocalcemia, Delayed puberty, Type I diabetes mellitus, Enamel hypoplasia OMIM:212750
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Hemangioma, A... ORPHA:83628
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Bifid uterus ORPHA:2736
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis OMIM:607143
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Ovarian ne... ORPHA:902
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... ORPHA:904
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... OMIM:241080
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Diffuse leiomyomatosis OMIM:301050
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Hypercalcemia, Phimosis, Cryptorchidism, Small... ORPHA:821
Wilson Disease
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbumine... OMIM:277900
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Eruption failure, Papillary thy... ORPHA:733
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Delayed puberty, Hypermagnesemia, Hyperhidrosis, Dia... ORPHA:358
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Micrognathia, A... ORPHA:1052
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Primary Intestinal Lymphangiectasia
Disseminated cutaneous warts, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Abnormal reproductive system morphology, Enla... ORPHA:797
Gracile Bone Dysplasia
Micropenis, Hypocalcemia OMIM:602361
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic frontal sinuses, Hypoc... OMIM:300712
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Calvarial osteosclerosis, Hypocalcemia OMIM:259700
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Breast carcinoma, Melanoma, Ovarian carcinoma, Exoc... ORPHA:1333
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased respons... OMIM:214800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Abnormal blood ion concentration, Thyroidit... ORPHA:37042
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Meckel Syndrome 14
Microretrognathia, Micrognathia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous ge... OMIM:619879
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Renal cyst, Ov... OMIM:614527
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Fibrous syngnathia, Hypop... OMIM:119500
Williams-Beuren Syndrome
Diabetes mellitus, Hypercalcemia, Dental malocclusion, Early onset of sexual maturation, Malar fl... OMIM:194050
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Neuroendocrine Neoplasm Of Appendix
Primary hypercortisolism, Adrenocorticotropic hormone excess, Ovarian neoplasm, Intestinal carcin... ORPHA:100079
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperhidrosis, Hy... ORPHA:94093
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Elevated circulating creati... OMIM:137920
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Micrognathia, Parathyroid ... OMIM:188400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Hypocalcemia OMIM:618476
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Capillary hemangioma, Hypocalcemia, Hyperbilirub... ORPHA:163979
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Micrognathia, Hypokalemia, Hypocalcemia OMIM:617913
Bacterial Toxic-Shock Syndrome
Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... ORPHA:36234
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Micrognathia ORPHA:3320
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Pontocerebellar Hypoplasia Type 7
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent... ORPHA:284339
Limb-Mammary Syndrome
Absent nipple, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Ap... ORPHA:69085
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Conjugated hyperbilirubin... OMIM:243800
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Adrenocortical cytomegaly, Nephroblastoma, Rhabdomyosarcoma, Elevated circ... ORPHA:116
Hennekam Syndrome
Benign neoplasm of the central nervous system, Delayed eruption of teeth, Supernumerary tooth, Hy... ORPHA:2136
Liver Disease, Severe Congenital
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Bi... OMIM:619991
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth, Ovarian neoplasm ORPHA:87
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Micrognathia OMIM:259720
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus, Micrognathia ORPHA:2879
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Thyroiditis, Hypocalcemic tetany, Hypothyroidism ORPHA:83471
Isotretinoin-Like Syndrome
Hypocalcemia, Micrognathia ORPHA:2306
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Delayed eruption of teeth, Decreased response to growth hormone stimulatio... OMIM:619503
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Hypoalbuminemia, Bile duct proliferation, Hypocalcemia, Unconjugated hyperbilirubi... OMIM:613658
Microsporidiosis
Sinusitis, Abnormality of the parathyroid gland, Abnormal endometrium morphology, Thyroiditis, Ab... ORPHA:2552
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Micrognathia, Abnormal circulating lepti... ORPHA:79474
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... ORPHA:572333
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Pancreatitis ORPHA:544482
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Micrognathia OMIM:614083
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Hypocalcemia, Hepatic cysts OMIM:218330
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Hydrolethalus Syndrome 1
Hypospadias, Micrognathia, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology OMIM:236680
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, ... ORPHA:466650
Proteus Syndrome
Neoplasm of the thymus, Renal cyst, Neoplasm of the central nervous system, Neoplasm, Capillary h... ORPHA:744
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Pancreatic cysts, Facial capillary hemangioma, Aplasia of the uterus, Malar flattening OMIM:274000
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia ORPHA:667
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Malar flattening, Small scrotum, Hypocalcemia OMIM:620330
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Loeys-Dietz Syndrome
Malar flattening, Micrognathia, Uterine rupture ORPHA:60030
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Wolf-Hirschhorn Syndrome
Hypospadias, Micrognathia, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hemangioma,... OMIM:194190
Norrie Disease
Diabetes mellitus, Cryptorchidism, Uterine rupture, Delayed puberty, Malar flattening, Neoplasm o... ORPHA:649
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Renal hypophosphatemia, Hypophosphatemic rickets, Hypocalcemic tetany,... ORPHA:289176
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Hypospadias, Cryptorchidism, Aplasia of the uterus, Hemangioma, Retrog... OMIM:135900
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Bifid uterus, Cr... OMIM:107480
Neu-Laxova Syndrome 1
Cryptorchidism, Micrognathia, Bifid uterus OMIM:256520
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Malar flattening, Retrognathia, Pseudohypoparathyroidism OMIM:617157
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Okamoto Syndrome
Bifid uterus ORPHA:2729
Vascular Ehlers-Danlos Syndrome
Hypospadias, Carious teeth, Cryptorchidism, Cystocele, Hypokalemia, Uterine rupture, Uterine prol... ORPHA:286
Pallister-Killian Syndrome
Delayed eruption of teeth, Anhidrosis, Small scrotum, Hypospadias, Supernumerary nipple, Microgna... 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 Cdc73

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 Cdc73.

No publications found that use IMPC mice or data for Cdc73.

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
Cdc73tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdc73tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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