Gene Summary

Name:
frizzled class receptor 1
Synonyms:
Fz1,  FZ-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased freezing behavior Fzd1em1(IMPC)Mbp HOM Early adult 3.75×10-34
hypoactivity Fzd1em1(IMPC)Mbp HOM Early adult 5.61×10-45
decreased exploration in new environment Fzd1em1(IMPC)Mbp HOM Early adult 4.70×10-22
increased eosinophil cell number Fzd1em1(IMPC)Mbp HOM Early adult 4.42×10-05
increased lymphocyte cell number Fzd1em1(IMPC)Mbp HOM Early adult 1.15×10-10
abnormal freezing behavior Fzd1em1(IMPC)Mbp HOM Early adult 2.78×10-06
abnormal skin morphology Fzd1em1(IMPC)Mbp HOM Early adult 0.00
increased leukocyte cell number Fzd1em1(IMPC)Mbp HOM Early adult 1.43×10-07
increased monocyte cell number Fzd1em1(IMPC)Mbp HOM Early adult 4.27×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

57 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

Human diseases caused by Fzd1 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 Fzd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Oocyte Maturation Defect 8
Female infertility OMIM:619009
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 88
Eosinophilia OMIM:619630
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
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
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Waddling gait, Antalgic gait ORPHA:168621
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Anxiety, Eosinophilia OMIM:618092
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffling gait, Fall... ORPHA:412066
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Aicardi-Goutieres Syndrome 2
Dystonia, Lymphocytosis OMIM:610181
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:614129
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... ORPHA:243
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Hydatidiform Mole
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea, Abnormality of the e... OMIM:158330
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression OMIM:159900
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Halothane Hepatitis
Eosinophilia OMIM:234350
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Creutzfeldt-Jakob Disease
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment OMIM:123400
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... ORPHA:401901
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Uterus didelphys, Metrorrhagia, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... ORPHA:2235
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Estrogen Resistance
Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus OMIM:615363
Kimura Disease
Eosinophilia ORPHA:482
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Difficulty walking OMIM:253600
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Wells Syndrome
Eosinophilia ORPHA:901
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Anxiety, Depression OMIM:605909
Huntington Disease-Like 1
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... ORPHA:280356
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency OMIM:618124
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... ORPHA:71517
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... OMIM:604326
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Geniospasm 1
Anxiety OMIM:190100
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
M├╝llerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Hereditary Breast And Ovarian Cancer Syndrome
Ovarian neoplasm, Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer ORPHA:145
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety OMIM:602066
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency ORPHA:2928
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... OMIM:300068
Bardet-Biedl Syndrome
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary ORPHA:110
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Decreased circulating ... OMIM:603896
Senior-Loken Syndrome
Premature ovarian insufficiency ORPHA:3156
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Spinocerebellar Ataxia 48
Dystonia, Dysmetria, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, Depression OMIM:618093
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Seckel Syndrome 7
Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus OMIM:614851
Choreoacanthocytosis
Dystonia, Dementia, Acanthocytosis, Aggressive behavior, Self-mutilation of tongue and lips due t... OMIM:200150
Alpha-Heavy Chain Disease
Premature ovarian insufficiency ORPHA:100025
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Bradyphrenia, Suicidal ideation, Aggressive behavior,... ORPHA:399
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression OMIM:616398
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Parkinsonism With Polyneuropathy
Anxiety, Depression, Bradykinesia OMIM:619279
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... ORPHA:168782
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation ORPHA:208441
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia OMIM:193670
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... OMIM:168605
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Interstitial Cystitis
Abnormal vagina morphology, Abnormality of the menstrual cycle, Dyspareunia, Abnormal labia morph... ORPHA:37202
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:79085
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Ataxia, Dysdiadocho... OMIM:615157
Immunodeficiency 23
Neutropenia, Abscess, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... OMIM:146255
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... ORPHA:90301
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Netherton Syndrome
Hypereosinophilia OMIM:256500
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-lik... ORPHA:79239
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... ORPHA:90794
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Anxiety, Leukocytosis, Depression ORPHA:83601
Scleroderma
Anxiety, Cognitive impairment, Hypereosinophilia, Depression ORPHA:801
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... ORPHA:90795
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear/anxiety-related behavior, Apathy, Myeloproliferative disorder, Anxiety, Depression,... ORPHA:100924
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:435651
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism OMIM:230400
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:609441
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia OMIM:606324
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Cystic Echinococcosis
Peritoneal abscess, Abscess, Eosinophilia, Splenic cyst ORPHA:400
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Eosinophilia ORPHA:183
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Mcleod Syndrome
Acanthocytosis, Hepatosplenomegaly, Personality disorder, Abnormal erythrocyte morphology, Anxiet... OMIM:300842
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Eosinophilia, Normocytic anemia, Lethargy ORPHA:199299
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impairment, A... ORPHA:309246
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:435660
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Dementia, Anemia, Splenomegaly, Myeloproliferative disorder, Hepato... ORPHA:3260
Alveolar Echinococcosis
Anemia, Abnormal spleen morphology, Ataxia, Eosinophilia, Cutaneous abscess, Liver abscess ORPHA:284
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decrea... ORPHA:508533
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Kallmann Syndrome
Hypoplasia of penis, Abnormal morphology of female internal genitalia, Hypogonadotropic hypogonad... ORPHA:478
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... ORPHA:2828
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Incontinentia Pigmenti
Attention deficit hyperactivity disorder, Gait disturbance, Eosinophilia, Cognitive impairment ORPHA:464
Leopard Syndrome 1
Hypospadias, Hypoplasia of the ovary, Aplasia of the ovary, Micropenis, Cryptorchidism, Delayed m... OMIM:151100
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Chordee, Spontaneous abortion, Bilateral cryptorchidism, Premature ovarian insuffici... ORPHA:96179
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Emotional lability, Anxiety, Difficulty walking ORPHA:3198
Igg4-Related Pachymeningitis
Mental deterioration, Eosinophilia ORPHA:449427
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Hypoparathyroidism, Adrenal insufficiency, Cholelithiasi... OMIM:240300
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia OMIM:274000
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... OMIM:618820
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid... OMIM:209900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Kennerknecht Syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Cushing Disease
Leukocytosis, Dementia, Suicidal ideation, Emotional lability, Lymphopenia, Panic attack, Depress... ORPHA:96253
Limb-Mammary Syndrome
Aplasia of the uterus, Hypoplastic nipples, Aplasia of the ovary, Bilateral breast hypoplasia, Pr... ORPHA:69085
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Irritability, Thro... ORPHA:292
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Coccidioidomycosis
Abnormality of the spleen, Abscess, Cognitive impairment, Granuloma, Eosinophilia ORPHA:228123
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary OMIM:619321
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... ORPHA:2442
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Alg9-Cdg
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Exstrophy-Epispadias Complex
Male sexual dysfunction, Bifid scrotum, Bifid uterus, Absent penis, Female sexual dysfunction, Bi... ORPHA:322
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus OMIM:309801
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia, Difficulty walking ORPHA:1667
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:618280
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Dementia, Suicidal ideation, Emotional lability, Lymphopenia, Panic attack, Anxiety... ORPHA:99889
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Maturity-onset ... OMIM:137920
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... ORPHA:284339
Sarcoidosis
Leukopenia, Increased T cell count, Anemia, Thrombocytopenia, Eosinophilia, Hemolytic anemia ORPHA:797
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99228
Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99226
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... OMIM:614527
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Schinzel-Giedion Syndrome
Hypospadias, Central hypothyroidism, Streak ovary, Annular pancreas, Micropenis ORPHA:798
Hereditary Chronic Pancreatitis
Leukocytosis ORPHA:676
Microphthalmia, Syndromic 9
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... OMIM:107480
Viss Syndrome
Hypereosinophilia OMIM:619472
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Ataxia, Lymphocytosis, Thrombocytopenia ORPHA:50918
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Norrie Disease
Uterine rupture, Erectile dysfunction, Diabetes mellitus, Cryptorchidism, Delayed puberty ORPHA:649
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cervical insufficiency, Uterine prolapse, Cystocele, Cryptorchidism OMIM:130050
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia of the uterus, Hypoplastic nipples, Cryptorchidism, Anteriorly displaced gen... OMIM:276820
Okamoto Syndrome
Bifid uterus ORPHA:2729
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Coffin-Siris Syndrome 1
Hypospadias, Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus OMIM:135900
Wolf-Hirschhorn Syndrome
Hypospadias, Cryptorchidism, Precocious puberty, Aplasia of the uterus OMIM:194190
Rubinstein-Taybi Syndrome 1
Hypospadias, Bifid uterus, Papillary cystadenoma of the epididymis, Premature thelarche, Cryptorc... OMIM:180849
Peters-Plus Syndrome
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Clitoral h... OMIM:261540
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Peters Plus Syndrome
Hypospadias, Congenital hypothyroidism, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchi... ORPHA:709
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... 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 Fzd1

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 Fzd1.

No publications found that use IMPC mice or data for Fzd1.

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MGI Allele Allele Type Produced
Fzd1em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Fzd1tm378261(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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