Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 19 (thiamine transporter), member 2
Synonyms:
DDA1,  THTR1,  TRMA

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc19a2 mutations

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

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

The table below shows human diseases associated to Slc19a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Cryptorchidism, Sensorineural hearing impairment, Ataxia, Diabetes mellitus... OMIM:249270
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia, Opti... ORPHA:49827

The table below shows human diseases predicted to be associated to Slc19a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness-Infertility Syndrome
Azoospermia, Sensorineural hearing impairment, Male infertility ORPHA:94064
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Bilateral sensorineural hearing impairment, Male infertility, Reduced s... OMIM:611102
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Sensorineural hearing impairment, Thrombocytopenia, Low-frequency... OMIM:124900
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Spermatogenic Failure 4
Azoospermia OMIM:270960
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia... OMIM:615234
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Morbid Obesity And Spermatogenic Failure
Infertility, Insulin resistance, Azoospermia, Oligospermia, Type II diabetes mellitus OMIM:615703
Spinocerebellar Ataxia Type 32
Azoospermia, Progressive cerebellar ataxia, Male infertility, Testicular atrophy ORPHA:276183
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Splenomegaly, Anemia ORPHA:294
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Ataxia, Testicular atrophy OMIM:613909
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Hypogonadotropic hypogonadism, Abnormal pyramidal sign, Decreased... ORPHA:453533
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Hypoglycemia, Central hypothyroidism, Ataxia, Hypogonadism OMIM:616113
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Thrombocythemia 3
Thrombocytosis OMIM:614521
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Progressive cerebellar... ORPHA:411590
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Gait disturbance, Decreased ... ORPHA:481
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Leukoencephalopathy With Dystonia And Motor Neuropathy
Intention tremor, Azoospermia, Head tremor, Torticollis, Hypergonadotropic hypogonadism OMIM:613724
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Splenomegaly OMIM:602390
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hypergonadotropic hypogonadism, Male hypogonadism, Hyperglycemia OMIM:307500
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Sensorineural hearing impairment, Abnormal macrophage morphology ORPHA:2690
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hypogonadism ORPHA:1383
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Testicular atrophy, Impoten... OMIM:235200
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus, Hearing impairment ORPHA:2578
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
48,Xxyy Syndrome
Infertility, Motor stereotypy, Cryptorchidism, Azoospermia, Tremor, Hypoplasia of penis, Ataxia, ... ORPHA:10
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Cryptorchidism, Azoosperm... ORPHA:432
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Overfold... ORPHA:3216
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis OMIM:604416
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hepatosple... ORPHA:300298
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia OMIM:209950
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Classic Galactosemia
Decreased fertility in females, Incoordination, Action tremor, Primary amenorrhea, Hypoglycemia, ... ORPHA:79239
Hyperinsulinism Due To Glucokinase Deficiency
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II ... ORPHA:79299
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Spasticity, Gait disturbance ORPHA:1445
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
47,Xyy Syndrome
Varicocele, Low-set ears, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone l... ORPHA:8
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Autosomal Dominant Cerebellar Ataxia
Action tremor, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramidal motor fu... ORPHA:99
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Hypoglycemia, Leucine-Induced
Spasticity, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia OMIM:240800
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Estrogen Resistance
Primary amenorrhea, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Hypoplasia... OMIM:615363
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Menorrhagia, Neutr... OMIM:155100
Retinitis Pigmentosa
Hyperinsulinemia, Conductive hearing impairment, Sensorineural hearing impairment, Hypoplasia of ... ORPHA:791
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Sensorineural hearing impairment, Secondary... ORPHA:3085
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Thrombocytosis, Erectile dysfunction, Increased ci... ORPHA:2905
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Low-set ears, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to... ORPHA:280679
Plin1-Related Familial Partial Lipodystrophy
Infertility, Abnormal circulating hormone concentration, Polycystic ovaries, Hyperinsulinemia, In... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Sensorineural hea... OMIM:222300
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
48,Xyyy Syndrome
Azoospermia, Primary gonadal insufficiency, Male hypogonadism ORPHA:99329
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Cogan Syndrome
Tinnitus, Vestibular dysfunction, Leukocytosis, Thrombocytosis, Sensorineural hearing impairment,... ORPHA:1467
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydro... ORPHA:361
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Primary amenorrhea, Hyperinsulinemic hypoglycemia OMIM:616033
Mody
Glycosuria, Neonatal hypoglycemia, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Ab... ORPHA:552
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes insipidus, Sensorineural hearing impairment, Megaloblastic anemia,... OMIM:598500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses OMIM:617519
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Sensorineural hearing impairment, Thrombocytopenia, Neutropenia, Anemia, Hydrocele testis, Congen... OMIM:616738
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hemochromatosis, Type 4
Anemia, Impotence, Diabetes mellitus, Glucose intolerance, Impaired glucose tolerance OMIM:606069
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... OMIM:300845
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Menorrhagia, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal er... ORPHA:324636
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, Asplenia OMIM:614034
Wt Limb-Blood Syndrome
Pancytopenia, Leukemia, Hypoplastic anemia, Cryptorchidism, Sensorineural hearing impairment, Thr... OMIM:194350
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Miscarriage, Chronic myelogenous leukemia, ... ORPHA:71493
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormal spermatogenes... ORPHA:90646
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Conductive hearing impairment, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of somatosenso... ORPHA:320401
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility OMIM:618300
48,Xxxy Syndrome
Infertility, Small scrotum, Cryptorchidism, Azoospermia, Tremor, Hypoplasia of penis, Chronic oti... ORPHA:96263
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Polycystic ovaries, Abnormality ... ORPHA:1227
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Bloom Syndrome
Decreased fertility in females, Leukemia, Cryptorchidism, Azoospermia, Type II diabetes mellitus,... OMIM:210900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Amenorrhea, Histiocytosis, Azoospermia, Micropenis, Hearin... ORPHA:168569
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Thrombocytosis, Macrotia, Premature ovarian insufficiency, Hypergonadotropic hypo... OMIM:212065
49,Xxxxy Syndrome
Infertility, Small scrotum, Cryptorchidism, Azoospermia, Tremor, Hypoplasia of penis, Chronic oti... ORPHA:96264
Perrault Syndrome 3
Primary amenorrhea, Sensorineural hearing impairment, Congenital sensorineural hearing impairment... OMIM:614129
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Sensorineural hearing impairment, Speech apra... ORPHA:79237
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Az... ORPHA:251066
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Congenital sensorineural hearing impairment OMIM:606528
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Recurrent otitis media, Chordee, Cryptorchidism, Male infertility, Bil... ORPHA:1772
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Abnormal prostate morphology, Recurrent hypoglycemia, Uterine neoplasm, Prostate ca... ORPHA:2126
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Blackfan-Diamond Anemia
Leukopenia, Low-set ears, Thrombocytosis, Erythroid hypoplasia, Microtia, Acute myeloid leukemia,... ORPHA:124
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Celiac Disease, Susceptibility To, 1
Infertility, Thrombocytosis, Iron deficiency anemia, Thyroiditis, Macrocytic anemia, Delayed pube... OMIM:212750
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Decreased fertility, Testicular atrophy OMIM:313200
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Axonal degeneration, Decreased motor nerve conduction velocity... OMIM:601596
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy OMIM:613987
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant d... OMIM:604367
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Cryptorchidism, Sensorineural hearing impairment, Ataxia, Diabetes mellitus... OMIM:249270
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Sensorineural hearing impai... OMIM:617565
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Sensorineural hearing impairment, Hypogonadotropic hypogonadism OMIM:612370
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Excessive insulin response to... ORPHA:324575
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Ring Chromosome 22 Syndrome
Azoospermia, Impaired pain sensation, Macrotia, Gait ataxia ORPHA:1446
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Caudate atrophy, Prelingu... ORPHA:52368
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Choreoathetosis, Hyperinsulinemia, Delayed puberty, Mic... ORPHA:3464
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Myh9-Related Disease
Sensorineural hearing impairment, Giant platelets, Menorrhagia, Neutrophil inclusion bodies, Cong... ORPHA:182050
Björnstad Syndrome
Sensorineural hearing impairment, Hypogonadism ORPHA:123
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia, Male infertility OMIM:618948
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Diffuse cerebral atrophy, Absent brainstem auditory responses, Thrombocytop... ORPHA:3240
Ataxia-Telangiectasia
T lymphocytopenia, Female hypogonadism, Leukemia, Choreoathetosis, Abnormal spermatogenesis, Decr... OMIM:208900
Perlman Syndrome
Hyperinsulinemia, Low-set ears, Cryptorchidism, Abnormal pancreas morphology, Hypoplasia of penis... ORPHA:2849
Perrault Syndrome 2
Sensorineural hearing impairment, Streak ovary, Amenorrhea OMIM:614926
Insulinoma
Hearing abnormality, Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma,... ORPHA:97279
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia OMIM:226300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Leukopenia, Hepatosplenomegaly, Leukocytosis, Optic atrophy... OMIM:615688
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, Pancreatic hypoplasia, Sensorineural ... OMIM:602782
3-Hydroxy-3-Methylglutaric Aciduria
EEG abnormality, Leukopenia, Leukocytosis, Thrombocytosis, Anemia, Hypsarrhythmia ORPHA:20
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Insulin resistance, Hyperinsulinemia, Ataxia, Gait ataxia,... ORPHA:363400
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Enlarged polycy... ORPHA:785
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Cerebral atrophy, Leukocytosis, Thrombocytosis, Anoperineal fistula, Hypsarrh... OMIM:618213
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism, Primary amenorrhea, Resting tremor, Sensorineural hearing impairment, Bradykinesia,... OMIM:157640
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Diabetes mellitus, Absent brainstem... ORPHA:1215
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia, Opti... ORPHA:49827
Trichohepatoenteric Syndrome 1
Low-set ears, Thrombocytosis, Microtia, Hypospadias, Increased mean platelet volume OMIM:222470
Bloom Syndrome
Insulin resistance, Azoospermia, Acute myeloid leukemia, Abnormal proportion of CD8-positive T ce... ORPHA:125
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276575
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Cryptorchidism, Neutropenia, Anemia, Male infertility, Reticulocytopenia,... OMIM:227650
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Thrombocytopenia, Abnormal oral glucose tolerance, Fastin... ORPHA:2298
Brucellosis
Leukopenia, Leukocytosis, Orchitis, Thrombocytosis, Splenomegaly, Miscarriage, Anemia, Epididymit... ORPHA:1304
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Conductive hearing impairment, Abnormal auditory evoked potentials,... OMIM:201050
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Oligomenorrhea, Amenorrhea, ... ORPHA:528
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Tenorio Syndrome
Hypoglycemia, Cerebral palsy, Gait disturbance, Clumsiness, Hypoinsulinemia OMIM:616260
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Otitis media, Polys... OMIM:613807
Aromatase Deficiency
Primary amenorrhea, Insulin resistance, Cryptorchidism, Ambiguous genitalia, female, Enlarged pol... ORPHA:91
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529799
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis ORPHA:134
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Hypogonadotropic hypogonadism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Low-set ears, Pancreatic islet-cell hyperplasia, Long pen... OMIM:246200
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Anemia, Retrograde ejaculation, Vertigo ORPHA:230
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Pancytopenia, Paralysis, Hepatosplenomegaly, Azoospermia, Sensorineural hearing i... ORPHA:2072
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia, Hypothyroidism OMIM:615486
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Abnormal autonomic nervous system physiology ORPHA:94093
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Testicular atrophy, Facial diplegia, Hypogonadism OMIM:160900
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Recurrent otitis media, Immotile sperm, Male infertility OMIM:614874
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Generalized Glucocorticoid Resistance Syndrome
Infertility, Hypoglycemia, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level,... ORPHA:786
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Fanconi Anemia
Hearing abnormality, Absent testis, Leukopenia, Abnormality of the hypothalamus-pituitary axis, C... ORPHA:84
Mogs-Cdg
Hypothyroidism, Hepatosplenomegaly, Sensorineural hearing impairment, Inappropriate antidiuretic ... ORPHA:79330
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Recurrent otitis media, Chronic otitis media, Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Atr... ORPHA:99027
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... OMIM:619260
Adult Krabbe Disease
Erectile dysfunction, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Orthostatic hypotension, Decreased fem... ORPHA:95512
Cockayne Syndrome Type 1
Cryptorchidism, Anemia, Male hypogonadism, Macrotia, Abnormality of peripheral nerve conduction, ... ORPHA:90321
Syndromic Diarrhea
Hypothyroidism, Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Increased me... ORPHA:84064
Hepatocellular Carcinoma
Thrombocytosis, Anemia, Type II diabetes mellitus, Polycythemia, Thrombocytopenia ORPHA:88673
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Small scrotum, Primary amenorrhea, Hypogonadotropic hypogonad... OMIM:176270
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Leukocyte Adhesion Deficiency
Cerebral atrophy, Leukocytosis, Impaired neutrophil chemotaxis, Impaired platelet aggregation, Th... ORPHA:2968
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Von Hippel-Lindau Syndrome
Tinnitus, Epididymal cyst, Paraganglioma, Papillary cystadenoma of the epididymis, Pancreatic cys... OMIM:193300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Megaloblastic anemia, Testicular atrophy, Spasticity, Abnormality ... OMIM:300322
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Cryptorchidism, Hearing impairment OMIM:193700
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Hepatosplenomegaly, Cryptorchidism, Sensorineural hearing impairment, Aganglion... OMIM:609136
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic h... OMIM:203800
Doors Syndrome
EEG abnormality, Low-set ears, Thrombocytosis, Atresia of the external auditory canal, Congenital... ORPHA:79500
Primary Ciliary Dyskinesia
Recurrent otitis media, Conductive hearing impairment, Abnormal sperm motility, Chronic otitis me... ORPHA:244
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Primary testicular failure, Oligospermia, Anemia, Male infertility, Abnormal ... ORPHA:85450
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, N... OMIM:222800
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media, Asplenia, Male infertility, Absent outer dyn... OMIM:244400
Wolfram Syndrome 2
Primary amenorrhea, Sensorineural hearing impairment, Optic neuropathy, Impaired collagen-induced... OMIM:604928
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility, Recurrent otitis media OMIM:614935
Aarskog-Scott Syndrome
Large earlobe, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Dec... OMIM:305400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased... ORPHA:101085
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Motor stereotypy, Cryptorchidism, Azoospermia, Abnormal calcium-phosphate reg... ORPHA:534
Cockayne Syndrome A
Cerebral atrophy, Cerebellar atrophy, Irregular menstruation, Cryptorchidism, Sensorineural heari... OMIM:216400
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased fertility, Hyperinsulinemia, Polycystic ovaries, Spleno... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hyperinsulinemia, Polycystic ovaries, Splenomegaly, Labial hypert... OMIM:608594
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:619607
Infantile Krabbe Disease
Decreased nerve conduction velocity, Diffuse cerebral atrophy, Prolonged brainstem auditory evoke... ORPHA:206436
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Trisomy 10P
Rectovaginal fistula, Abnormality of the ear, Absent gallbladder, Low-set ears, EEG with burst su... ORPHA:171929
Leprechaunism
Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Increased cir... ORPHA:508
Cockayne Syndrome B
Cerebral atrophy, Cryptorchidism, Sensorineural hearing impairment, Micropenis, Splenomegaly, Dec... OMIM:133540
Acquired Generalized Lipodystrophy
Polycystic ovaries, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Labial pseudohypertrop... OMIM:151660
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormality of somatosensory evoked potentials, Hypothyroidism, Cerebellar atroph... ORPHA:909
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Decrease... ORPHA:273
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
X-Linked Intellectual Disability, Snyder Type
Cupped ear, EEG abnormality, Small earlobe, Low-set ears, Cryptorchidism, Asymmetry of the ears, ... ORPHA:3063
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Low-set ears ORPHA:401973
Noonan Syndrome 1
Low-set ears, Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment, Cryptorchidism,... OMIM:163950
Diphallia
Ectopic scrotum, Bifid penis, Cryptorchidism, Abnormal spermatogenesis, Epispadias, Distal urethr... ORPHA:227
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Insulin resistance, Hyperinsulinemia OMIM:613327
Atypical Werner Syndrome
Glycosuria, Decreased fertility, Hyperinsulinemia, Hyperglycemia, Insulin-resistant diabetes mell... ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Cystinosis, Nephropathic
Glycosuria, Primary hypothyroidism, Splenomegaly, Male hypogonadism, Diabetes mellitus, Male infe... OMIM:219800
Turner Syndrome
Recurrent otitis media, Primary amenorrhea, Hyperinsulinemia, Low-set ears, Hashimoto thyroiditis... ORPHA:881
Mosaic Monosomy X
Recurrent otitis media, Primary amenorrhea, Hyperinsulinemia, Low-set ears, Hashimoto thyroiditis... ORPHA:99228
Monosomy X
Recurrent otitis media, Primary amenorrhea, Hyperinsulinemia, Low-set ears, Hashimoto thyroiditis... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Recurrent otitis media, Primary amenorrhea, Hyperinsulinemia, Low-set ears, Hashimoto thyroiditis... ORPHA:99413
Alström Syndrome
Hyoplasia of the Leydig cells, Severe sensorineural hearing impairment, Irregular menstruation, D... ORPHA:64
Pmm2-Cdg
Abnormal pinna morphology, Hypogonadotropic hypogonadism, Impaired neutrophil chemotaxis, Hyperin... ORPHA:79318
Cystic Fibrosis
Hepatosplenomegaly, Male infertility OMIM:219700

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 Slc19a2

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 Slc19a2.

No publications found that use IMPC mice or data for Slc19a2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Slc19a2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc19a2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc19a2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc19a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter