Gene Summary

helicase, POLQ-like
D430018E21Rik,  Hel308

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Helqem1(IMPC)Mbp HOM Early adult 0.00
small kidney Helqem1(IMPC)Mbp HOM Early adult 0.00
abnormal caudal vertebrae morphology Helqem1(IMPC)Mbp HOM   Early adult 1.19×10-06
increased circulating insulin level Helqem1(IMPC)Mbp HOM Early adult 6.73×10-06
male infertility Helqem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Helqem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Helqem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Helqem1(IMPC)Mbp HOM Early adult 0.00
small testis Helqem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Helqem1(IMPC)Mbp HOM Early adult 0.00
female infertility Helqem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Helq mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
Matching phenotypes Source
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Hereditary Breast And Ovarian Cancer Syndrome
Primary peritoneal carcinoma, Melanoma, Breast carcinoma, Ovarian neoplasm, Prostate cancer, Abno... ORPHA:145
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Ovarian Cancer
Breast carcinoma, Dysgerminoma, Ovarian papillary adenocarcinoma OMIM:167000
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Serrated Polyposis Syndrome
Bladder carcinoma, Colorectal polyposis, Schwannoma, Melanoma, Breast carcinoma, Biliary tract ne... ORPHA:157798
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
46,Xy Sex Reversal 10
Micropenis, Gonadoblastoma, Sex reversal, Ambiguous genitalia, Dysgerminoma, Decreased testicular... OMIM:616425
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Neoplasm of the breast, Spinal cord tumor, Supratentorial neoplasm, Neoplasm of the liver, Ovaria... ORPHA:251639
Neoplasm of the breast, Spinal cord tumor, Supratentorial neoplasm, Neoplasm of the liver, Ovaria... ORPHA:251636
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm, Basal cell carcinom... ORPHA:50944
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Neoplasm of the adrenal cortex, Chondrosarcoma, Hemangiomatos... ORPHA:163634
Familial Multinodular Goiter
Colorectal polyposis, Medulloepithelioma, Sertoli cell neoplasm, Testicular seminoma, Ovarian neo... ORPHA:276399
Frasier Syndrome
Male pseudohermaphroditism, Ovarian gonadoblastoma, Gonadal dysgenesis, Primary amenorrhea OMIM:136680
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Ovarian thecoma, Thyroid nodule, Nephroblastoma, Pleuropulmonary blas... OMIM:180295
46,Xy Sex Reversal 6
Chordee, Hypospadias, Gonadoblastoma, Sparse axillary hair, Sex reversal, Hirsutism, Dysgerminoma... OMIM:613762
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm OMIM:614337
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Neoplasm of the breast, Neoplasm of the respirat... ORPHA:2221
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Lymphangioma, Neoplasm of the breast, Ovarian neoplasm, Hamartoma, Neoplas... ORPHA:137608
Desmoplastic Small Round Cell Tumor
Sarcoma, Testicular neoplasm, Neoplasm of the central nervous system, Ovarian neoplasm, Neoplasm ... ORPHA:83469
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Abnormality of male internal genita... OMIM:261550
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Hirsutism, Amenorrhea, Oligomenorrhea OMIM:184700
Plin1-Related Familial Partial Lipodystrophy
Infertility, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovaries, In... ORPHA:280356
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Testicular atrophy OMIM:613987
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Secondary amenorrhea, Type II diabetes mell... ORPHA:3085
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Isochromosomy Yq
Primary gonadal insufficiency, Varicocele, Azoospermia, Decreased testicular size, Male infertili... ORPHA:98798
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovarie... ORPHA:90301
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absent pubic hair, Primary amenorrhea, Delayed puberty, Cryptorchi... OMIM:614841
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Abnormality of the ovary, Basal cell carcinoma, Gonadal calci... ORPHA:314473
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Hirsutism, Abnormality of ... ORPHA:2795
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Peripheral primitive neuroectodermal neoplasm, Spinal cord tumor, Uterin... ORPHA:370348
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Fanconi Anemia, Complementation Group S
Long eyelashes, Breast carcinoma, Ovarian neoplasm, Low anterior hairline, Sparse hair OMIM:617883
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Absent pubic hair, Ele... ORPHA:90793
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Myotonic Dystrophy 1
Cholelithiasis, Frontal balding, Hypogonadism, Testicular atrophy OMIM:160900
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short neck, Primary amenorrhea, Delayed thelarche, Scoliosis, Delayed puberty, Hyperinsulinemic h... OMIM:616033
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Lynch Syndrome
Neuroblastoma, Colon cancer, Neoplasm of the rectum, Urinary tract neoplasm, Benign neoplasm of t... ORPHA:144
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Sarcoma, Polycystic ovaries, Abnormal penis morphology, Goiter, Abnormal ... ORPHA:457059
Werner Syndrome
Aplasia/Hypoplasia of the testes, Cutaneous melanoma, Meningioma, Neoplasm of the lung, Neoplasm ... ORPHA:902
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Sparse hair, Hyper... OMIM:268020
Cowden Syndrome 1
Hypothyroidism, Subcutaneous lipoma, Varicocele, Carcinoma, Hyperthyroidism, Breast carcinoma, Ov... OMIM:158350
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Neoplasm, Aplasia/Hypopl... ORPHA:100
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Decreased circulat... ORPHA:231632
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Neoplasm of the ... ORPHA:1359
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephroblas... OMIM:194072
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Denys-Drash Syndrome
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Male pseudohermaphrodi... OMIM:194080
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Polycystic ovaries, Hyperinsulinemia, Abnormality ... ORPHA:1227
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Lhermitte-Duclos Disease
Trichilemmoma, Neoplasm of the thyroid gland, Fibroadenoma of the breast, Ovarian neoplasm ORPHA:65285
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Intussu... OMIM:175200
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Renal cyst, Colon cancer, Papilloma, Neoplasm of the rectum, Uterine leiomy... ORPHA:480536
Cowden Syndrome 6
High palate, Hypothyroidism, Subcutaneous lipoma, Varicocele, Hyperthyroidism, Colonic diverticul... OMIM:615109
Distal Monosomy 10P
Ectopic anus, Polycystic ovaries, Cryptorchidism, Hypoplasia of penis, Anal atresia, Cleft palate ORPHA:1580
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Li-Fraumeni Syndrome
Colon cancer, Adrenocortical carcinoma, Prostate neoplasm, Osteosarcoma, Breast carcinoma, Lung a... OMIM:151623
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorc... ORPHA:432
Cowden Syndrome 5
High palate, Hypothyroidism, Subcutaneous lipoma, Hyperthyroidism, Colonic diverticula, Breast ca... OMIM:615108
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Peutz-Jeghers Syndrome
Esophageal neoplasm, Gastrointestinal carcinoma, Breast carcinoma, Biliary tract neoplasm, Neopla... ORPHA:2869
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Sparse pubic hai... ORPHA:243
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased propo... ORPHA:66628
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Decreased s... ORPHA:79085
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus, Ty... OMIM:604367
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Esophageal neoplasm, Cutaneous leiomyoma, Uterine leiomyosarcoma, ... ORPHA:523
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cel... OMIM:606719
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Familial Pancreatic Carcinoma
Melanoma, Colon cancer, Breast carcinoma, Ovarian carcinoma, Neoplasm of the liver, Pancreatic ad... ORPHA:1333
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased propo... ORPHA:179494
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Amenorrhea, Erectile dysfunction, Cho... ORPHA:465508
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Increased circulating gonado... OMIM:615300
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Congenital Generalized Lipodystrophy
Precocious puberty in females, Polycystic ovaries, Oligomenorrhea, Hyperinsulinemia, Amenorrhea, ... ORPHA:528
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Excessive insulin response to... ORPHA:324575
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea, Hyperinsulinemia, Glucose intolerance, Impaired glu... OMIM:615363
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormal hair morphology, Abnormality of the uterus, Alopec... ORPHA:3130
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia OMIM:606528
Retinitis Pigmentosa
Hyperinsulinemia, Hypoplasia of penis, Type II diabetes mellitus, Abnormal testis morphology, Hyp... ORPHA:791
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Diabetes mellitus, Testicular atrophy OMIM:222300
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Decreased s... ORPHA:435651
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Sparse hair, Macroorchidism, Polycystic ovaries ORPHA:284180
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypogonadism, Decreased testicular size ORPHA:261483
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Nephrolithiasis, Male infertility, Spermatocele OMIM:301060
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Melanoma, Cryptorchidism, Micropenis, Breast car... ORPHA:1916
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Legius Syndrome
Multiple lipomas, Male urethral meatus stenosis, Ovarian neoplasm, Desmoid tumors, Non-small cell... ORPHA:137605
Mccune-Albright Syndrome
Abnormal endocrine physiology, Decreased fertility, Irregular menstruation, Goiter, Increased ser... ORPHA:562
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Polycystic ovaries, Decreased adiponectin level, Insulin-resist... ORPHA:435660
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Aarskog-Scott Syndrome
Widow's peak, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decr... OMIM:305400
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Increased level of galactitol i... ORPHA:79237
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... ORPHA:276575
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Enlarged polycy... ORPHA:785
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estradiol, Impotence, Abnormal e... ORPHA:2232
Cowden-Like syndrome
Uterine leiomyoma, Breast carcinoma, Papillary thyroid carcinoma, Endometrial carcinoma OMIM:612359
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Primary amenorrhea, Polycystic ovaries, Dysmenorrhea, Insulin-resistant di... ORPHA:79083
Donohue Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Long penis, Ovarian cyst, Precocious puberty... OMIM:246200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Delayed puberty, Cholestasis, Hyperinsulinemia, C... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Delayed puberty, Cholestasis, Hyperinsulinemia, C... ORPHA:71526
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Luscan-Lumish Syndrome
High anterior hairline, Irregular menstruation, Hirsutism, Polycystic ovaries OMIM:616831
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis ORPHA:2849
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, A... ORPHA:1772
Congenital Fibrinogen Deficiency
Micropenis, Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Cleft palate, Polycystic ovaries ORPHA:1770
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hyp... ORPHA:35878
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Polycystic ovaries, Dysmenorrhea, Secondary amenorrhea, Diabetes mellitus ORPHA:2348
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity, Intestinal obstruction ORPHA:543
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Uterine leiomyosarcoma, Uterine leiomyoma, Cu... OMIM:150800
Familial Melanoma
Melanoma, Abnormal hair morphology, Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of ... ORPHA:618
Bardet-Biedl Syndrome
Generalized hirsutism, Cryptorchidism, Hypoplasia of penis, Multicystic kidney dysplasia, Medial ... ORPHA:110
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Splenomega... ORPHA:417
Crouzon Syndrome
Dysgerminoma OMIM:123500
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Amenorrhea OMIM:619425
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, High, narrow palate OMIM:618124
Basal Cell Nevus Syndrome
Cardiac fibroma, Ovarian fibroma, Odontogenic keratocysts of the jaw, Cardiac rhabdomyoma, Medull... OMIM:109400
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Renal neoplasm, Adenoma sebaceum, Colon cancer, Breast carci... ORPHA:587
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adrenocorticotropic hormone excess, Appendiceal mucinous neoplasm, Adenocar... ORPHA:100079
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, ... OMIM:602390
Aromatase Deficiency
Generalized hirsutism, Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged ... ORPHA:91
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Increased glucagon level, Neoplasm of the pancreas ORPHA:438274
Primary Lipodystrophy
Type II diabetes mellitus, Menometrorrhagia, Polycystic ovaries ORPHA:90970
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Parathyroid adenoma, Hamartoma, Papillary renal ce... OMIM:145001
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Secondary amenorrhea, Anemia, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Atypical Werner Syndrome
Neoplasm of the breast, Aplasia/Hypoplasia of the eyebrow, Meningioma, Neoplasm of the lung, Neop... ORPHA:79474
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Polycystic ovaries, Elevated circulating... ORPHA:572333
Alpha-Heavy Chain Disease
Lymphoma, Premature ovarian insufficiency, Abnormality of the small intestine, Malabsorption ORPHA:100025
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Proteus-Like Syndrome
Subcutaneous lipoma, Polycystic ovaries, Abnormality of the parathyroid gland, Thymus hyperplasia... ORPHA:2969
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Opsoclonus-Myoclonus Syndrome
Neuroblastoma, Melanoma, Breast carcinoma, Neoplasm, Neoplasm of the lung, Small cell lung carcin... ORPHA:1183
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Cystic Echinococcosis
Renal cyst, Abnormality of the testis size, Hepatic cysts, Ovarian cyst ORPHA:400
Apert Syndrome
Ovarian neoplasm ORPHA:87
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Hypothyroidism, Male hypogonadism OMIM:618625
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepat... ORPHA:276556
Glycosuria, Exocrine pancreatic insufficiency, Renal cyst, Neonatal hypoglycemia, Pancreatic hypo... ORPHA:552
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Hepatocellular adenoma, Hepatocellular ... ORPHA:370
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Ectopia of the spleen, Abnormal penis m... ORPHA:457083
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Cowden Syndrome 7
Papillary thyroid carcinoma, Hashimoto thyroiditis, Papilloma, Breast carcinoma, Hemangioma, Tric... OMIM:616858
Alstrom Syndrome
Hepatic steatosis, Hypothyroidism, Kyphosis, Irregular menstruation, Diabetes insipidus, Hyperins... OMIM:203800
Fibrous Dysplasia Of Bone
Precocious puberty in females, Neoplasm of the breast, Testicular neoplasm, Hyperthyroidism, Oste... ORPHA:249
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Hepatocellular carcinoma, Hepatocellula... ORPHA:79240
Steinert Myotonic Dystrophy
Colon cancer, Ovarian carcinoma, Impotence, Male hypogonadism, Diabetes mellitus, Neoplasm of the... ORPHA:273
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Ovarian serous cystadenoma, Hydrocele testis, Nephroblastoma ORPHA:276280
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Proteinuria, Postprandial hyperglycemia, Thrombocytopenia, Abnorma... ORPHA:2298
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Furrowed tongue ORPHA:2928
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Breast carcinoma, Brain neoplasm, Adenocarcinoma of the colon, Neoplasm of ... ORPHA:447877
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Renal Fanconi syndrome, Fasting hypoglycemia, Hyperinsulinemia... ORPHA:263455
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Primary amenorrhea, Hepatosplenomegaly, Insulin resistance, Splenomegaly, Hepa... OMIM:612526
Cowden Syndrome
Abnormal penis morphology, Abnormality of the thyroid gland, Cavernous hemangioma, Abnormality of... ORPHA:201
Infantile Systemic Hyalinosis
Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Malabsorption, Abnormality of the adrenal g... ORPHA:2176
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Lymphoma, Insulin-resistant diabetes mellitus, Astrocytoma ORPHA:79086
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Hepatocellular adenoma, Delayed puberty... ORPHA:264580
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Platyspondyly, Reduced sperm motility OMIM:602271
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Thyroid n... ORPHA:79665
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Premature thelarche, Hirsutism, Nodular goiter, Type I diabetes mellitus ORPHA:371428
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasia of the pleura, Abnormal prostate morphology, Soft tissue neoplasm, Uterine neoplasm, Ne... ORPHA:2126
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased fertility, Hepatic steatosis, Acute pancreatitis, Nephr... OMIM:269700
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Classic Galactosemia
Decreased fertility in females, Hypoglycemia, Primary amenorrhea, Cryptorchidism, Hepatomegaly, J... ORPHA:79239
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Fibroma, Papilloma, Rectal polyposis, Adenocarcinoma of the colon, Uterine ... ORPHA:220460
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Small scrotum, Kyphosis, Infertility, Prima... OMIM:176270
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Polycysti... OMIM:608594
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Cirrhosis ORPHA:363400
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Proteus Syndrome
Diabetes insipidus, Lymphangioma, Meningioma, Lipoma, Neoplasm of the lung, Capillary hemangioma,... ORPHA:744
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Generalized hirsutism, Polycystic ovaries, Dysmenorrhea, Decreased adi... ORPHA:280365
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Thyroid nodule, Adenomato... ORPHA:247806
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Von Hippel-Lindau Syndrome
Epididymal cyst, Spinal hemangioblastoma, Paraganglioma, Papillary cystadenoma of the epididymis,... OMIM:193300
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Sparse eyebrow, Abnormality of the Leydig cells, Testicular atrophy, Synophrys, H... ORPHA:3063
Orofaciodigital Syndrome I
Tongue nodules, Hypothalamic hamartoma, High palate, Myelomeningocele, Pancreatic cysts, Lobulate... OMIM:311200
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Abnormal form of the vertebral bodies ORPHA:1802
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Renal cyst, Cryptorchidism, Sparse eyebrow, Ovarian cyst, Highly arched ey... OMIM:614527
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Squamous cell carcinoma, Melanoma, Brain neoplasm, Breast carcinoma, Adenoca... ORPHA:79501
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Spondylitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, S... OMIM:619375
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatomegaly, Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia OMIM:602579
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Scoliosis OMIM:619518
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Familial Colorectal Cancer Type X
Neuroblastoma, Uterine neoplasm, Neoplasm of the rectum, Stomach cancer, Benign neoplasm of the c... ORPHA:440437
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Infantile Myofibromatosis
Sarcoma, Fibroma, Abnormal hair morphology, Gingival fibromatosis, Benign neoplasm of the central... ORPHA:2591
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Lymphadenopat... ORPHA:100024
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hyperlordosis, Hepatomegaly, Splenomegal... OMIM:613327
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus, Labial pseudohypertrop... OMIM:151660
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
47,Xyy Syndrome
Varicocele, Micropenis, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligospe... ORPHA:8
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Nephrotic syndrome, Hepatosplenomegaly, Abnormal testis morpholog... ORPHA:85450
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology, Duodenal ulcer ORPHA:722
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Monosomy 9Q22.3
Cardiac fibroma, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Medulloblastoma, Basal cel... ORPHA:77301
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Carcinoma, Endometrial carcinoma OMIM:612591
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Amyloidosis, Familial Visceral
Nephrotic syndrome, Cholestasis, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropin ... ORPHA:2965
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Abnormal sacrum morphology, Enlarged kidney, Hepatosplenomega... ORPHA:464329
Paragangliomas 4
Gastrointestinal stroma tumor, Chemodectoma, Paraganglioma, Neuroblastoma, Paraganglioma of head ... OMIM:115310
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hemoglobin E Disease
Splenomegaly, Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequ... ORPHA:2133
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Hypothyroidism, Portal hypertension, Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia ORPHA:79319
Beta-Thalassemia Intermedia
Hypothyroidism, Diabetes mellitus, Persistence of hemoglobin F, Cholelithiasis, Jaundice, Erythro... ORPHA:231222
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated urinary dopamine, Nocturia, Anemia, ... ORPHA:230
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Nephrotic syndrome, Hepatosplenomegaly, Autoimmune hemoly... OMIM:615559
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Increased circulating ACTH level, Small scrotum, Chordee, Polycystic ovaries, Cryptorchidism, Mic... OMIM:201750
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Nephrocalcinosis, Fasting hypoglycemia, Insulin resistance... ORPHA:769
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma OMIM:614350
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Abnormal vertebral morphology, Spinal canal stenosis, Abnormality of ... ORPHA:93476
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Neoplasm of the pancreas OMIM:608189
Ring Chromosome 12 Syndrome
Hypothyroidism, Glandular hypospadias, Cryptorchidism, Dystrophic toenail, Uterine leiomyoma, Hem... ORPHA:1439
Primary Ciliary Dyskinesia
Abnormal sperm motility, Asplenia, Male infertility, Female infertility, Polysplenia ORPHA:244
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Micropenis, Decreased serum testosterone concentration, Decreased serum estradio... ORPHA:2959
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Irregular menstruation, Polycystic ovaries, Menorrhagia, Hepatocellular adenoma, ... ORPHA:79259
Enlarged kidney, Nephrocalcinosis, Fasting hypoglycemia, Insulin resistance, Central hypothyroidi... ORPHA:508
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Splenomegaly ORPHA:664
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly ORPHA:75563
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Short neck, Narrow vertebral interpedicular distance, Splenomegaly, Platysp... OMIM:602557
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Familial Adenomatous Polyposis
Hypothyroidism, Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Abnormality... ORPHA:733
Nmda Receptor Encephalitis
Neuroblastoma, Neoplasm of the breast, Neoplasm of the thymus, Neoplasm of the lung, Hodgkin lymp... ORPHA:217253
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Hepatomegaly, Back pain, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Cancer-Associated Retinopathy
Malignant genitourinary tract tumor, Colon cancer, Small cell lung carcinoma, Neoplasm of the bre... ORPHA:71505
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Ferguson-Bonni Neurodevelopmental Syndrome
Premature ovarian insufficiency, High palate OMIM:619699
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Sclerotic vertebral endplates, Anemia, Reticulocy... OMIM:611490
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Neoplasm of the gastrointestinal tract, Colon cancer, Intussusception, Juve... ORPHA:157794
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Glycogen Storage Disease Xii
Cholelithiasis, Short neck, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocy... OMIM:611881
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemic seizures, Neonatal hypoglycemia, Myoglobinuria, Fasting hyperinsu... ORPHA:71212
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Ciliary Dyskinesia, Primary, 14
Polysplenia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Leopard Syndrome 1
Cryptorchidism, Micropenis, Aplasia of the ovary, Delayed menarche, Delayed puberty, Hypospadias,... OMIM:151100
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Prostat... ORPHA:158057
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Aredyld Syndrome
Abnormality of the ureter, Splenomegaly, Hepatomegaly, Scoliosis, Type II diabetes mellitus, Type... ORPHA:1133
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Histiocytoid Cardiomyopathy
Renal cyst, Cleft palate, Polycystic ovaries ORPHA:137675
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Back pain, Anemia, Hepatitis,... ORPHA:905
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Adrenal calcification ORPHA:75234
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Priapism, Leukocytosis, Hematuria, Splenome... OMIM:603903
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Red urine, Splenomegaly, Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary ... OMIM:618892
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Sacral dimple, Abnormality of the hypothalamus-pituitary axis, Cry... ORPHA:251066
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadeno... OMIM:609981
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hypoplastic vertebral bodies, Cholestasis, Hepatic bridging fibrosis, Beaking ... OMIM:618641
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Chronic kidney disease, Hepatomegaly, Splenomegaly, Glucose intolerance, Nephronopht... OMIM:615630
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Bardet-Biedl Syndrome 1
High palate, Micropenis, Abnormality of the ovary, Vaginal atresia, Aganglionic megacolon, High, ... OMIM:209900
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Gaucher Disease Type 1
Pancytopenia, Kyphosis, Vertebral compression fracture, Hematuria, Proteinuria, Leukopenia, Bilia... ORPHA:77259
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Renal hamartoma, Fibroma, Testicular neoplasm, Primary hyperparathyroidism, Parathyro... ORPHA:99880
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Oculoskeletodental Syndrome
Hypothyroidism, Thoracic kyphosis, Hypercalciuria, Cryptorchidism, Splenomegaly, Hepatomegaly, Sc... OMIM:618440
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Fanconi Anemia, Complementation Group A
Pancytopenia, Ectopic kidney, Horseshoe kidney, Leukemia, Cryptorchidism, Neutropenia, Anemia, Ma... OMIM:227650
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Genitourinary And/Or Brain Malformation Syndrome
Chordee, Cryptorchidism, Uterus didelphys, Micropenis, Gonadal dysgenesis, Urogenital sinus anoma... OMIM:618820
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Thoracolum... OMIM:610199
Acrodermatitis Enteropathica, Zinc