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Gene: Kif13a MGI:1098264

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Gene Summary

Name:
kinesin family member 13A
Synonyms:
N-3 kinesin,  4930505I07Rik

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
abnormal spleen morphology Kif13aem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Kif13aem1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Kif13aem1(IMPC)Mbp HOM Early adult 3.02×10-08
hyperactivity Kif13aem1(IMPC)Mbp HOM Early adult 8.70×10-08
small kidney Kif13aem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Kif13aem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Kif13aem1(IMPC)Mbp HOM Early adult 0.00
enlarged testis Kif13aem1(IMPC)Mbp HOM Early adult 0.00
hydrometra Kif13aem1(IMPC)Mbp HOM Early adult 0.00
decreased startle reflex Kif13aem1(IMPC)Mbp HOM Early adult 1.08×10-07
abnormal kidney morphology Kif13aem1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Kif13aem1(IMPC)Mbp HOM   Early adult 3.38×10-06

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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

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Kif13a 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 Kif13a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Attention deficit hyperactivity disorder, Macroorch... ORPHA:3000
Partington Syndrome
EEG abnormality, Limb dystonia, Macroorchidism ORPHA:94083
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Resting tremor, Tremor, Focal EEG discharges with secondary generalization, Macroo... ORPHA:3077
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Geniospasm 1
Anxiety OMIM:190100
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly, Macrotia OMIM:300886
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity, Macroorchidism OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Bilateral sensorineural hearing impairment, Macrotia OMIM:300238
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Shuffling gait, Inertia, Short step... ORPHA:412066
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking OMIM:619191
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Congenital macroorchidism, Macrotia OMIM:300624
47,Xyy Syndrome
Increased circulating gonadotropin level, Hyperactivity, Cryptorchidism, Micropenis, Hypospadias,... ORPHA:8
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Dystonia 12
Bradykinesia, Depression, Anxiety, Unsteady gait, Emotional lability OMIM:128235
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Bradykinesia OMIM:618878
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Tremor, Choreoathetosis, Male hypogonadism, Macrotia, Dystonia, EEG with generali... OMIM:300055
Huntington Disease-Like 2
Apathy, Bradykinesia, Depression, Anxiety, Irritability OMIM:606438
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Fragile X Syndrome
Protruding ear, Attention deficit hyperactivity disorder, Macroorchidism ORPHA:908
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Hearing impairment, Attention deficit hyperactivity disorder, Macroorchidism ORPHA:284180
Lujan-Fryns Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Protruding ear, Macroorchidism ORPHA:776
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Atkin-Flaitz Syndrome
Macroorchidism, Macrotia ORPHA:1193
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity, Macroorchidism ORPHA:85327
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Macrotia ORPHA:85286
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Precocious puberty, Pancreatitis, Elevated ci... ORPHA:562
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... ORPHA:457083
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Polyembryoma
Abdominal mass, Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum ORPHA:180229
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Anemia of inadequate production, Increased circulating gonado... ORPHA:91349
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Splenomegaly ORPHA:139406
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Overfolded helix, Macroorchidism, Cardiomegaly, Macrotia ORPHA:324410
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Trisomy 20P
Abnormal antihelix morphology, Protruding ear, Abnormal autonomic nervous system physiology, Hypo... ORPHA:261318
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... ORPHA:320401
Glut1 Deficiency Syndrome 2
EEG abnormality, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia OMIM:612126
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Morm Syndrome
Hyperactivity, Micropenis ORPHA:75858
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Abnormally folded helix, Hyperactivity, Macroorchidism OMIM:309520
Galactosemia Iii
Sensorineural hearing impairment, Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Leydig Cell Hypoplasia
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Micropenis... ORPHA:755
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... ORPHA:90790
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, EEG abnormality, Hyperactivity, Hyperglycinuria OMIM:239500
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Hepatomegaly, Dystonia OMIM:615924
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Micropenis, Attention deficit hyperactivity disorder, Macrotia, Cryptorchidism OMIM:618504
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Atten... ORPHA:90674
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites ORPHA:1046
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism OMIM:618874
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Intention tremor, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Anemia OMIM:613313
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Aromatase Deficiency
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... ORPHA:91
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice OMIM:620010
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abnormal pinna morphology, Hyperactivity, Micropenis, Hypospadias, Tremor, Decreased testicular s... OMIM:300354
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Low-set ears, Thrombocytopenia, Dys... OMIM:610333
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Attention deficit hyperactivity disorder, Bone marrow hypoc... OMIM:619151
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, Hepatome... ORPHA:79330
Abcd Syndrome
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... OMIM:600501
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Mastocy... ORPHA:66661
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Choreoathetosis, Renal insufficiency, Ne... ORPHA:79312
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Stankiewicz-Isidor Syndrome
Hyperactivity, Cryptorchidism, Micropenis, Hypospadias, Ureteral duplication, Hearing impairment,... OMIM:617516
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
49,Xxxyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Micropenis, Low-set, posteriorly rot... ORPHA:261534
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Tremor, Atte... ORPHA:206443
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... ORPHA:90797
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Hearing impairment, Attention deficit hyperactivity disorder, Unilateral rena... OMIM:619950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Hepatosplenomegal... OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Jaundice OMIM:619658
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hyperactivity, Unilateral renal agenesis, Gonadal dysgenesis, Low-set, poster... ORPHA:3306
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Cryptorchidism, Anemia, Optic atrophy, Tremor,... ORPHA:90321
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile... OMIM:617394
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp... ORPHA:158057
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Sensorineural hearing impairment, Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome,... OMIM:146255
Carney Complex
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... ORPHA:1359
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agen... OMIM:601076
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnorma... ORPHA:93476
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Peroxisome Biogenesis Disorder 5A (Zellweger)
Abnormal helix morphology, Hepatomegaly, Cryptorchidism, Splenomegaly, Hepatosplenomegaly, Intrah... OMIM:614866
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Hearing impairment... OMIM:252920
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic dis... OMIM:611490
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Head ti... ORPHA:3240
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Splenomegaly, Narrow internal auditory canal, Neoplasm of the thy... ORPHA:744
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Perrault Syndrome 3
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Congenital sensorineural hearin... OMIM:614129
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Optic atrophy, Facial palsy, Thrombocytopenia OMIM:615085
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... ORPHA:99027
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... ORPHA:848
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenom... ORPHA:1655
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Cockayne Syndrome A
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Hepatomega... OMIM:216400
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... OMIM:158330
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials OMIM:193700
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... OMIM:618892
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Choreoathetosis, Hyperactivity, Dystonia OMIM:612716
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Hearing impairment OMIM:252900
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... OMIM:613673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... OMIM:216360
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cryptorchidism, Hyperactivity OMIM:614613
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... OMIM:133540
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Aspartylglucosaminuria
Aspartylglucosaminuria, Hepatomegaly, Splenomegaly, Microtia, Macroorchidism ORPHA:93
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... ORPHA:83628
Transaldolase Deficiency
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Anemia, Cirrhosis, Hepatosplenomegaly, Hepati... OMIM:606003
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Asplenia, Pancreatic fibrosis, Hyperechogenic pancreas, Ma... OMIM:208540
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... ORPHA:101085
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut... OMIM:603909
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Cryptorchidism, Macrocytic anemia, Dilatation of renal calices, Attention deficit ... OMIM:614294
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Sensorineural hearing impairment, Proximal renal tubular acidosis, Cryptorchidism, Hyperactivity OMIM:615824
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Trisomy 10P
EEG with focal spikes, Multiple renal cysts, Low voltage EEG, EEG with burst suppression, Absent ... ORPHA:171929
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Townes-Brocks Syndrome 2
Microtia, Overfolded helix, Hypospadias, Cupped ear, Bifid uterus, Crossed fused renal ectopia, R... OMIM:617466
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Precocious puberty, Hepatomegaly, Hyperactivity, EEG with generalized epil... ORPHA:163681
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Sex reversal, Hypoplasia of the uterus, Microtia, Hypergonadotr... OMIM:154230
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... OMIM:602347
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Cryptorchidism, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Pancreatic ly... OMIM:235255
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:168558
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Multilobulated spleen, Bicornuate uterus, Renal hypopla... OMIM:601186
Perrault Syndrome 6
Sensorineural hearing impairment, Hypoplasia of the uterus, Streak ovary OMIM:617565
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:289548
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidne... ORPHA:2237
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Micropenis, Macrotia, Cryptorchidism, Microphallus, Small scrotum OMIM:300486
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Tremor, Decreased testicular size, Hypogonadism OMIM:201100
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Legius Syndrome
Nephrolithiasis, Ovarian neoplasm, Hyperactivity, Male urethral meatus stenosis, Acute monocytic ... ORPHA:137605
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... OMIM:194380
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... OMIM:278850
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Hearing impairment OMIM:252930
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials, Urinary incontinence ORPHA:206448
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hearing impair... OMIM:618440
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... ORPHA:909
X-Linked Intellectual Disability, Cabezas Type
EEG abnormality, Hyperactivity, Hypoplasia of penis, Tremor, Decreased testicular size, Hypogonad... ORPHA:85293
Fanconi Anemia, Complementation Group L
Microtia, Unilateral renal agenesis, Micropenis, Anemia, Anotia, Renal hypoplasia, Aplasia of the... OMIM:614083
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... ORPHA:3109
Aspartylglucosaminuria
Aspartylglucosaminuria, Hepatomegaly, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... OMIM:278000
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegaly, Cardiome... OMIM:268800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Hyperactivity, Cryptorchidism, T... OMIM:235510
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Scheie Syndrome
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Mucopolysacchariduria, Abnormal ner... ORPHA:93474
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia,... OMIM:610199
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
8P11.2 Deletion Syndrome
Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogonadism, External ear mal... ORPHA:251066
Chromosome 17Q12 Deletion Syndrome
Protruding ear, Bilateral sensorineural hearing impairment, Unilateral renal agenesis, Ovarian cy... OMIM:614527
Mend Syndrome
Low-set ears, Hyperactivity, Cryptorchidism, Abnormal auditory evoked potentials ORPHA:401973
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Optic atrophy, Hearing impairment, Prolonged b... ORPHA:206436
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatospleno... OMIM:618935
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... ORPHA:464329
Distal Trisomy 17Q
Protruding ear, Hyperactivity, Accessory spleen, Low-set, posteriorly rotated ears, Cryptorchidis... ORPHA:3379
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferen... OMIM:137920
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Hyperactivity, Cryptorchidism, Cupped ear, Aplastic anemia, Pa... OMIM:617052
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... OMIM:603903
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Protruding ear, Hypoplasia of the uterus, Micropenis, Hypergona... OMIM:241080
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sensorineural hearing impairment, Hepatomegaly, Lymphopenia, Cryptorchidism, Splenomegaly, Anemia... OMIM:612541
Oeis Complex
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... OMIM:258040
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Wilson Disease
Hepatomegaly, Glycosuria, Tremor, Proteinuria, Limb dystonia, Portal fibrosis, Jaundice, Renal tu... OMIM:277900
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Optic disc pal... OMIM:615512
Chediak-Higashi Syndrome
Hepatomegaly, Decreased nerve conduction velocity, Hemophagocytosis, Splenomegaly, Abnormal dense... OMIM:214500
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation OMIM:613027
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Elevated circulating follicle stimulating ho... ORPHA:90796
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... ORPHA:284339
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity, Nocturia, Urinary urgency, Urinary hesitancy, Ur... OMIM:609727
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoim... ORPHA:760
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Horseshoe kidney, Aplasia of... ORPHA:3320
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Histiocytosis-Lymphadenopathy Plus Syndrome
Sensorineural hearing impairment, Histiocytosis, Hepatomegaly, Decreased response to growth hormo... OMIM:602782
Primary Lipodystrophy
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis ORPHA:90970
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools OMIM:613812
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Hemoglobinuria, Anisocytosis, Poikilocytosis, Fava bean... OMIM:300908
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hydrocele testis, Chordee, Cryptorchidism, Imperforate hymen, Microtia, Exaggerated startle respo... OMIM:619522
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Low-set, posteriorly rota... ORPHA:30
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Early Infantile Epileptic Encephalopathy
EEG abnormality, Precocious puberty, EEG with spike-wave complexes, Hyperactivity, Micropenis, Ur... ORPHA:1934
Meckel Syndrome 14
Ambiguous genitalia, Polycystic kidney dysplasia, Hepatic fibrosis, Aplasia of the uterus, Low-se... OMIM:619879
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Increased urinary galactosylated oligosaccharide, Hepatosplenomegal... ORPHA:79255
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Woodhouse-Sakati Syndrome
Protruding ear, Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, ... ORPHA:3464
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Absent peni... ORPHA:322
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sensorineural hearing impairment, Aminoaciduria, Splenomegaly, Schistocytosis, B lymphocytopenia,... OMIM:616084
Cardiac-Urogenital Syndrome
Micropenis, Bifid scrotum, Accessory spleen, Hepatopulmonary fusion, Unilateral cryptorchidism, E... OMIM:618280
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Unilateral renal agenesis, Optic nerve hypoplasia, Aplasia of the uterus, Aplasia ... ORPHA:457284
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Labial hypertrophy, C... OMIM:608594
Isolated Biliary Atresia
Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis, Atret... ORPHA:30391
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm... OMIM:611881
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ambiguous genitalia, Small scrotum, Cholestatic liver disease, Precocious puberty, ... OMIM:270400
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, Macrotia OMIM:615574
Lymphatic Malformation 6
Hydrocele testis, Abnormal pinna morphology, Splenomegaly, Cupped ear, Intestinal lymphangiectasi... OMIM:616843
Tay-Sachs Disease
Precocious puberty, Laryngeal dystonia, Exaggerated startle response, Optic atrophy, Tremor, Hear... ORPHA:845
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... OMIM:271520
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Familial Mediterranean Fever
Nephrotic syndrome, Pancreatitis, Orchitis, Splenomegaly, Peritonitis, Nephropathy, Proteinuria, ... ORPHA:342
Familial Mediterranean Fever
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orchitis, Peritonitis... OMIM:249100
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Acute pancreatit... OMIM:269700
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Low-set, posteriorly rotated ears OMIM:618598
Argininemia
Oroticaciduria, Hepatomegaly, Micronodular cirrhosis, Hyperactivity, Diaminoaciduria, Cholestasis... OMIM:207800
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Phocomelia, Schinzel Type
Aplasia of the uterus, Protruding ear, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Familial Gestational Hyperthyroidism
Goiter, Hyperactivity, Thyroid hyperplasia, Hand tremor ORPHA:99819
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Townes-Brocks Syndrome 1
Sensorineural hearing impairment, Cryptorchidism, Microtia, Stahl ear, Hypospadias, Bifid uterus,... OMIM:107480
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Hyperactivity, Thyroid hyperplasia, Hand tremor ORPHA:424
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... ORPHA:521426
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil... ORPHA:567983
Beckwith-Wiedemann Syndrome
Posterior helix pit, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged ki... ORPHA:116
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Ureteral duplication, Horseshoe kidney, Aplasia o... OMIM:274000
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Abnormal pinna morphology, Hypospadias, Bifid uterus, Accessory splee... OMIM:236680
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urinary delta-aminolevu... OMIM:276700
Hyperthyroidism, Nonautoimmune
Goiter, Hyperactivity, Thyroid hyperplasia OMIM:609152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Nephrolithiasis, Uterine prolapse, Precocious puberty, Cryptorchidism, Exaggerated startle respon... ORPHA:438213
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, External ear malformation, Exaggerated startle response ORPHA:438216
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Vaginal atresia, Low-set ears OMIM:617088
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Okamoto Syndrome
Low-set ears, Abnormal helix morphology, Splenomegaly, Bifid uterus, Ureteropelvic junction obstr... ORPHA:2729
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, EEG a... OMIM:194190
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Sensorineural hearing impairment, Hyperactivity, Cryptorchidism, Micropenis, Microtia, Hypospadia... OMIM:309580
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:617527
Limb-Mammary Syndrome
Absent nipple, Protruding ear, Bilateral breast hypoplasia, Hypoplastic nipples, Breast aplasia, ... ORPHA:69085
Coffin-Siris Syndrome 1
Low-set ears, Abnormal pinna morphology, Cryptorchidism, Hypospadias, Hydroureter, Renal hypoplas... OMIM:135900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Norrie Disease
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Ute... ORPHA:649
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Absent earlobe, Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficie... OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Abnormal pinna morphology, Anteriorly displaced genitalia, Cryptorchidism, Hypospadias, Hypoplast... OMIM:276820
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Macrotia OMIM:256520
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Protruding ear, Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, ... ORPHA:286
Pallister-Killian Syndrome
Low-set ears, Labial hypoplasia, Hypoplastic labia majora, Cryptorchidism, Supernumerary nipple, ... OMIM:601803
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030

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 Kif13a

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 Kif13a.

No publications found that use IMPC mice or data for Kif13a.

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MGI Allele Allele Type Produced
Kif13atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kif13atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kif13aem1(IMPC)Mbp Exon Deletion Mice, Tissue

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