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Gene: Fzd1 MGI:1196625

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased freezing behavior Fzd1em1(IMPC)Mbp HOM Early adult 3.75×10-34
increased monocyte cell number Fzd1em1(IMPC)Mbp HOM Early adult 4.19×10-05
decreased thigmotaxis Fzd1em1(IMPC)Mbp HOM Early adult 1.01×10-05
increased lymphocyte cell number Fzd1em1(IMPC)Mbp HOM Early adult 1.11×10-10
abnormal freezing behavior Fzd1em1(IMPC)Mbp HOM Early adult 1.01×10-05
abnormal behavior Fzd1em1(IMPC)Mbp HOM Early adult 2.01×10-05
abnormal skin morphology Fzd1em1(IMPC)Mbp HOM Early adult 0.00
increased leukocyte cell number Fzd1em1(IMPC)Mbp HOM Early adult 1.36×10-07
increased eosinophil cell number Fzd1em1(IMPC)Mbp HOM Early adult 4.42×10-05
decreased locomotor activity Fzd1em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Fzd1em1(IMPC)Mbp HOM Early adult 1.02×10-18

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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

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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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
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Adenomyosis
Dysmenorrhea, Adenomyosis OMIM:600458
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Familial Hyperprolactinemia
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Immunodeficiency 88
Eosinophilia OMIM:619630
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Anxiety, Unsteady gait OMIM:618092
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Dysplasia Of Head Of Femur, Meyer Type
Waddling gait, Antalgic gait, Leukocytosis ORPHA:168621
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, ... ORPHA:412066
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia OMIM:616871
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... ORPHA:2795
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility ORPHA:1643
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Secondary... ORPHA:243
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... OMIM:158330
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... ORPHA:3130
Creutzfeldt-Jakob Disease
Apathy, Depression, Anxiety, Memory impairment, Gait ataxia, Irritability, Dementia OMIM:123400
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... ORPHA:314478
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia OMIM:615483
Halothane Hepatitis
Eosinophilia OMIM:234350
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking OMIM:619191
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment ORPHA:401901
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia OMIM:603218
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Kimura Disease
Eosinophilia ORPHA:482
Huntington Disease-Like 2
Apathy, Bradykinesia, Depression, Anxiety, Irritability, Dementia OMIM:606438
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Difficulty walking OMIM:253600
Geniospasm 1
Anxiety OMIM:190100
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Dystonia 12
Bradykinesia, Depression, Anxiety, Unsteady gait, Emotional lability OMIM:128235
Myoclonus-Dystonia Syndrome
Depression, Personality disorder, Anxiety, Panic attack ORPHA:36899
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Cinca Syndrome
Eosinophilia, Anemia, Leukocytosis, Hepatosplenomegaly OMIM:607115
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Anxiety, Bradykinesia, Dementia OMIM:605909
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... ORPHA:247768
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety, Dementia OMIM:604326
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Bradykinesia OMIM:618878
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer ORPHA:145
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... ORPHA:2232
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Paroxysmal choreoathetosis OMIM:602066
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:300068
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism ORPHA:110
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation ORPHA:208441
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Pgm3-Cdg
Cutaneous abscess, Ataxia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia ... ORPHA:443811
Parkinsonism With Polyneuropathy
Depression, Anxiety, Bradykinesia OMIM:619279
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... ORPHA:3085
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Gait ataxia, Irritability OMIM:618093
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Choreoacanthocytosis
Progressive choreoathetosis, Anxiety, Acanthocytosis, Disinhibition, Self-mutilation of tongue an... OMIM:200150
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia OMIM:193670
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Shuffling gait, Aggressive behavior, Ab... ORPHA:3077
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... ORPHA:3464
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Interstitial Cystitis
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... ORPHA:37202
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Insulin-resistant diabe... OMIM:268020
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Immunodeficiency 23
Ataxia, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septate vagina, Aplasia of the uterus, ... OMIM:146255
Perry Syndrome
Apathy, Akinesia, Bradykinesia, Depression, Anxiety, Inappropriate behavior, Suicidal ideation, D... OMIM:168605
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Anxiety, Leukocytosis, Thrombocytopenia ORPHA:83601
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Scleroderma
Depression, Anxiety, Hypereosinophilia, Cognitive impairment ORPHA:801
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Netherton Syndrome
Hypereosinophilia OMIM:256500
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly OMIM:617388
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Maternal diabete... OMIM:604367
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... ORPHA:90795
Porphyria Due To Ala Dehydratase Deficiency
Apathy, Abnormal fear/anxiety-related behavior, Depression, Myeloproliferative disorder, Anxiety,... ORPHA:100924
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Cystic Echinococcosis
Eosinophilia, Abscess, Splenic cyst, Peritoneal abscess ORPHA:400
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Eosinophilia ORPHA:183
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Lethargy, Macrocytic anemia ORPHA:199299
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... ORPHA:478
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... OMIM:241080
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, ... ORPHA:508533
Alveolar Echinococcosis
Cutaneous abscess, Ataxia, Abnormal spleen morphology, Eosinophilia, Anemia, Liver abscess ORPHA:284
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... ORPHA:2965
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Young-Onset Parkinson Disease
Gait imbalance, Apathy, Impulsivity, Bradykinesia, Cognitive impairment, Depression, Anxiety, Pan... ORPHA:2828
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Leopard Syndrome 1
Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Delayed puberty, Cryptorchidi... OMIM:151100
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Falls, Difficulty walking, Emotional lability ORPHA:3198
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Incontinentia Pigmenti
Gait disturbance, Eosinophilia, Cognitive impairment ORPHA:464
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia ORPHA:514
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety, Bradykinesia OMIM:606324
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Cushing Disease
Lymphopenia, Leukocytosis, Depression, Panic attack, Memory impairment, Suicidal ideation, Emotio... ORPHA:96253
Igg4-Related Pachymeningitis
Mental deterioration, Eosinophilia ORPHA:449427
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Anxiety, Inappropriate behavior, Cognitive impairment ORPHA:309246
Kennerknecht syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Streak ovary, Micropenis, Uterus didelphys, Hypospadias, Gonad... OMIM:618820
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia, ... ORPHA:292
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Coccidioidomycosis
Cognitive impairment, Eosinophilia, Abscess, Abnormality of the spleen, Granuloma ORPHA:228123
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... ORPHA:69085
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... ORPHA:64739
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Diabetes mellitus, V... ORPHA:2237
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Micropenis, Decreased testicular size, Hypogonadism, Vaginal atre... OMIM:209900
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Elevated circulating growth hormone conce... ORPHA:562
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Micropenis OMIM:619321
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia OMIM:271520
Alg9-Cdg
Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipples ORPHA:79328
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Exstrophy-Epispadias Complex
Female sexual dysfunction, Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Pen... ORPHA:322
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Wolcott-Rallison Syndrome
Difficulty walking, Neutropenia, Lymphocytosis, Iron deficiency anemia ORPHA:1667
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma ORPHA:454840
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Leukocytosis, Depression, Anxiety, Panic attack, Memory impairment, Suicidal ideatio... ORPHA:99889
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell count ORPHA:797
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Maturi... OMIM:137920
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Turner Syndrome Due To Structural X Chromosome Anomalies
Thyroiditis, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Primary amenorrhea,... ORPHA:99413
Turner Syndrome
Thyroiditis, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Primary amenorrhea,... ORPHA:881
Mosaic Monosomy X
Thyroiditis, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Primary amenorrhea,... ORPHA:99228
Monosomy X
Thyroiditis, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Primary amenorrhea,... ORPHA:99226
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Coffin-Siris Syndrome 9
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... OMIM:614527
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... OMIM:301074
Schinzel-Giedion Syndrome
Annular pancreas, Micropenis, Streak ovary, Hypospadias, Central hypothyroidism ORPHA:798
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Clitoral hypoplasia, Go... OMIM:618419
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Viss Syndrome
Hypereosinophilia OMIM:619472
Kikuchi-Fujimoto Disease
Ataxia, Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:50918
Cardiac-Urogenital Syndrome
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Bifid uterus, Hypospadias, Adrenal gland dysgenesis OMIM:236680
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Norrie Disease
Uterine rupture, Erectile dysfunction, Delayed puberty, Diabetes mellitus, Cryptorchidism ORPHA:649
Townes-Brocks Syndrome 1
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Hypothyroidism, Urethral valve, ... OMIM:107480
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism OMIM:130050
Liver Disease, Severe Congenital
Lymphocytosis, Inappropriate crying, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Irritabi... OMIM:619991
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... OMIM:276820
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Hypospadias, Cryptorchidism, Precocious puberty OMIM:194190
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Coffin-Siris Syndrome 1
Aplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypertrophy OMIM:135900
Okamoto Syndrome
Bifid uterus ORPHA:2729
Peters-Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Clitoral hypoplasia, Bilobate ga... OMIM:261540
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Cryptorchidism ORPHA:286
Peters Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Congenital hypothyroidism, Anterior hypopituitarism, Clito... ORPHA:709
Pallister-Killian Syndrome
Labial hypoplasia, Supernumerary nipple, Hypospadias, Aplasia of the upper vagina, Hypoplastic la... 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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