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Gene: Kalrn MGI:2685385

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kalirin, RhoGEF kinase
Synonyms:
Hapip,  LOC224126,  E530005C20Rik,  2210407G14Rik

Order Alleles

IMPC Data Collections

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

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.

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 Kalrn 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 Kalrn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Decreased bo... OMIM:608747
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Paresthesia, Decreased female libi... ORPHA:251937
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
X-Linked Acrogigantism
Ataxia, Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemi... ORPHA:300373
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Excessive shyness OMIM:618221
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... ORPHA:91347
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... ORPHA:85327
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... ORPHA:79644
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Childhood Disintegrative Disorder
Mental deterioration, Reduced social reciprocity, Social and occupational deterioration, Motor de... ORPHA:168782
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Memory impairm... ORPHA:251623
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Somatomammotropinoma
Impotence, Depression, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating... ORPHA:314769
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Perrault Syndrome 1
Gait ataxia, Primary amenorrhea, Ataxia, Increased circulating gonadotropin level, Short stature,... OMIM:233400
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Postnatal growth retardation, Chorea, Cog... ORPHA:309246
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Glucagonoma
Depression, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac... ORPHA:97280
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Depression, Growth delay, Somatic sensory dysfunc... ORPHA:502423
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Depression, Increased circulat... OMIM:617675
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Paresthes... ORPHA:249
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Acromegaly
Impotence, Depression, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, P... ORPHA:963
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Increased circulating prolactin concentration, Tremor, Irri... ORPHA:35708
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Intrauterine... OMIM:300869
Hsd10 Disease
Optic atrophy, Postnatal growth retardation, Short attention span, Tremor, Ataxia, Dysphagia, Cho... ORPHA:391417
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor, Irritability, Aggressive behavio... ORPHA:3077
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Decreased testicular size, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity OMIM:617820
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Short attention span, Abnormal so... ORPHA:444002
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Glycine Encephalopathy 1
Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Cogniti... OMIM:615300
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Pachydermoperiostosis
Impaired temperature sensation, Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Streak ovary, Decreased fertility, Primary amenorrhea, Delayed puberty... ORPHA:243
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Dementia, Semantic dementia, Abnormal social behavio... ORPHA:1020
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Foxg1 Syndrome
Bruxism, Reduced social reciprocity, Stereotypical hand wringing, Agenesis of corpus callosum, Mo... ORPHA:561854
Leukodystrophy, Hypomyelinating, 13
Ataxia, Optic atrophy, Delayed brainstem auditory evoked response conduction time, Failure to thr... OMIM:616881
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Impaired vibration sensation in the lower limbs, Distal lower l... ORPHA:320406
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Decreased serum testostero... ORPHA:168563
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Chorea, Short attention span, Irritability, Joint contracture, Exaggerated sta... OMIM:617864
Stiff Person Spectrum Disorder
Paraspinal muscle hypertrophy, Emotional lability, Hypothyroidism, Hyperhidrosis, Exaggerated sta... ORPHA:3198
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
47,Xyy Syndrome
Male infertility, Azoospermia, Cryptorchidism, Reduced social reciprocity, Attention deficit hype... ORPHA:8
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:137831
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Decreased muscle mass, Hypogonadism, Decreased te... OMIM:229070
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Growth delay, Increased circulating prolactin concentration, Decreased circulating T4... ORPHA:99832
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Central hypothyroidism, Decreased serum testosterone con... ORPHA:453533
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Stiff-Person Syndrome
Depression, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Opisthotonus, Hyper... OMIM:184850
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... ORPHA:91351
Immunodeficiency 54
Failure to thrive, Postnatal growth retardation, Adrenal insufficiency, Intrauterine growth retar... OMIM:609981
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608049
Craniopharyngioma
Optic atrophy, Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypo... ORPHA:54595
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... OMIM:608643
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Reduced antra... OMIM:618723
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Distal amyotrophy, Hyperhidrosis, Exaggerated startle response, Optic disc pallor,... OMIM:609541
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Short attention span, Recurrent hand flapping,... ORPHA:449291
Meningioma
Lower limb muscle weakness, Increased circulating prolactin concentration, Emotional lability, Ne... ORPHA:2495
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Short attention span, Reduced social reciprocity, Attention deficit... OMIM:617854
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Sandhoff Disease
Skeletal muscle atrophy, Progressive psychomotor deterioration, Impaired temperature sensation, H... OMIM:268800
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Impotence, Small hypothenar eminence, Absence o... ORPHA:2232
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Tay-Sachs Disease
Precocious puberty, Mania, Optic atrophy, Depression, Skeletal muscle atrophy, Memory impairment,... ORPHA:845
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele... OMIM:618187
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Abnormal social behavior ORPHA:530983
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Adrenomyeloneuropathy
Memory impairment, Leg muscle stiffness, Male sexual dysfunction, Female sexual dysfunction, Adre... ORPHA:139399
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Young-Onset Parkinson Disease
Frontal lobe dementia, Short attention span, Restless legs, Reduced social reciprocity, Impulsivi... ORPHA:2828
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Growth delay, Failure t... ORPHA:90674
Atypical Rett Syndrome
Restrictive behavior, Bruxism, Inappropriate laughter, Reduced social reciprocity, Stereotypical ... ORPHA:3095
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... ORPHA:544254
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Exaggerated startle response... OMIM:618056
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Emotional lability, Polyphag... ORPHA:293987
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Leydig Cell Hypoplasia
Male hypogonadism, Absence of secondary sex characteristics, Breast aplasia, Hypoplasia of the Le... ORPHA:755
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Memory impairment, Depression, Progressive psychomotor deterioration, Decreased ne... ORPHA:309271
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Failure to thrive, Exaggerated startle response OMIM:618201
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Confusion, Limb muscle wea... ORPHA:100924
Asparagine Synthetase Deficiency
Dilated third ventricle, Optic nerve hypoplasia, Failure to thrive, Intrauterine growth retardati... OMIM:615574
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Failure to thrive, Contractures of the large joints, Congenital hypothyroidism, Pa... OMIM:617527
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Abnormal fear-induced behavior, Pituitary adenoma, Increased circulating... OMIM:219090
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Primary amenorrhea, Increased circulating gonadotropin l... ORPHA:347
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Lower limb m... ORPHA:199244
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Histidinemia
Hyperactivity ORPHA:2157
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Reduced social reciprocity, Aggressive behavior, Cognitive impairment, Compulsive behaviors, Dysp... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Reduced social reciprocity OMIM:616083
Pmm2-Cdg
Failure to thrive, Increased circulating prolactin concentration, Elevated circulating thyroid-st... ORPHA:79318
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Hip contracture, Dysphagia, Exaggerated startle respons... OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Failure to thrive, Contractures of the large joints, Limb hypertonia, Hyperhidrosi... ORPHA:521426
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Hypogonadism, Type II diabetes mellitus, Weakness of facial muscu... OMIM:602668
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Pelvic girdle muscle atrophy, Type I diabetes mel... ORPHA:3044
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Hyperactivity, Reduced social reciprocity ORPHA:1942
Ziegler-Huang Syndrome
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... OMIM:620501
Poems Syndrome
Hyperesthesia, Increased circulating prolactin concentration, Hypogonadism, Paresthesia, Primary ... ORPHA:2905
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Cryptorchidism, Tremor, Limb hypertonia, Exaggerated startle res... OMIM:620327
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Short attention span, Exaggerated startle response, Facial hypotonia, Dystonia ORPHA:438216
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Ovarian gonadoblastoma... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Optic atrophy, Gait ataxia, Ragged-red muscle fibers, Exaggerated startle response OMIM:620451
Parkinsonism-Dystonia 3, Childhood-Onset
Aggressive behavior, Dysphagia, Reduced social reciprocity OMIM:619738
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... OMIM:615656
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Abnorma... OMIM:400044
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Decreased response t... ORPHA:90695
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Pr... ORPHA:99413
Turner Syndrome
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Pr... ORPHA:881
Mosaic Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Pr... ORPHA:99228
Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Pr... ORPHA:99226
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased serum estradi... ORPHA:99429
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... OMIM:300912
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Chorea, Exaggerated startle response OMIM:272750
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
45,X/46,Xy Mixed Gonadal Dysgenesis
Bilateral cryptorchidism, Decreased serum testosterone concentration, Obesity, Streak ovary, Azoo... ORPHA:1772
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv... ORPHA:168558
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Exaggerated startle response, Growth delay OMIM:608800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Reduced social reciprocity, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Comp... OMIM:309520
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Reduced social reciprocity,... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Short attention span, Recurrent hand fl... OMIM:156200
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618798
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Skeletal muscle atrophy, Calf muscle hypertrophy, Exaggerated ... OMIM:253800
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:96263
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Short attention span, Reduced social reciprocity, Partial agenesis ... ORPHA:300570
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
Fg Syndrome Type 1
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Lead Poisoning
Memory impairment, Reduced social reciprocity, Attention deficit hyperactivity disorder, Cognitiv... ORPHA:330015
Cerebral Creatine Deficiency Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Reduced social r... OMIM:300352
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration ORPHA:309263
Wagro Syndrome
Reduced social reciprocity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Disproportionate short-limb short stature, Elevat... OMIM:609441
Pontocerebellar Hypoplasia, Type 8
Dysphagia, Reduced social reciprocity OMIM:614961
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Exaggerated startle response OMIM:617281
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Reduced social reciprocity ORPHA:261197
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Irritability, Hyperactivity, Exaggerated startle response, Dystonia, Impulsivity OMIM:620423
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity ORPHA:309155
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Adrenal hype... ORPHA:95699
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Male sexual dysfunction, Abnormal circulating est... ORPHA:90797
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Dysphagia, Reduced social reciprocity OMIM:619775
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm1 Gangliosidosis Type 1
Macroglossia, Intrauterine growth retardation, Exaggerated startle response ORPHA:79255
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Diastasis recti, Elevated circulating follicle st... OMIM:618419
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Growth delay, Abnormal fear-induced behavior, Failure to thrive, Obesity... ORPHA:353281
Rett Syndrome, Congenital Variant
Bruxism, Tongue thrusting, Motor stereotypy, Reduced social reciprocity OMIM:613454
Phelan-Mcdermid Syndrome
Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusting, Motor stereotypy OMIM:606232
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... ORPHA:3455
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Repetitiv... ORPHA:805
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Disinhibition, Aggressive behavior, C... ORPHA:646
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Neurodegeneration With Brain Iron Accumulation 2A
Reduced social reciprocity OMIM:256600
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Dysphagia, Exaggerated startle response, Irritability OMIM:618367
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Reduced social reciprocity, Polyphagia, Atte... ORPHA:404448
Seckel Syndrome 10
Severe short stature, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:617253
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Stereotypical ... ORPHA:438213
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Violent behavior, Bruxism, Short attention span, Reduced social reciprocity... OMIM:619475
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Reduced social reciprocity, Aggressive behavior, Polyphagia, Hyperactivi... ORPHA:96121
Alg11-Cdg
Reduced social reciprocity ORPHA:280071
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Memory impairment, Abnormal social behavior ORPHA:314647
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Bruxism, Reduced social reciprocity, Polyphagia, Attention deficit ... OMIM:615873
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Overfriendliness, Agenesis of corpus callosum, Attention deficit hyperact... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Overfriendliness, Agenesis of corpus callosum, Attention deficit hyperact... ORPHA:363958
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Postnatal growth reta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Postnatal growth reta... ORPHA:353277
Mend Syndrome
Aggressive behavior, Hyperactivity, Abnormal social behavior ORPHA:401973
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Primary hypercortisolism, Adrenocorticotropic hormone excess, Anorexia... ORPHA:100079
46,Xx Sex Reversal 2
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:278850
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:400045
Testicular Agenesis
Decreased serum testosterone concentration, Absent testis, Vanishing testis, Increased circulatin... ORPHA:325124
Trichothiodystrophy
Partial agenesis of the corpus callosum, Reduced social reciprocity ORPHA:33364
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Growth delay, Intrauterine growth retardation, Cryptorchidism, Attention deficit hyperactivity di... OMIM:619522
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Williams Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior, Overfri... ORPHA:904
Chromosome 1P36 Deletion Syndrome, Distal
Lateral ventricle dilatation, Oppositional defiant disorder, Self-mutilation, Agenesis of corpus ... OMIM:607872
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Reduced social reciprocity ORPHA:457359
17Q11 Microdeletion Syndrome
Memory impairment, Short attention span, Reduced social reciprocity ORPHA:97685
Mowat-Wilson Syndrome
Bruxism, Reduced social reciprocity, Agenesis of corpus callosum, Dysphagia, Motor stereotypy ORPHA:2152

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 Kalrn

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 Kalrn.

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

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