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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Hyperactivity, Attention deficit hyperactivity disorder 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
Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors OMIM:618830
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Hyperactivity, Decreased body weight, Short attention span, Short s... OMIM:608747
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Pituitary Adenoma 1, Multiple Types
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... OMIM:102200
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Pituitary grow... ORPHA:300385
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Excessive shyness, Aggressive behavior OMIM:618221
Pituitary Gigantism
Premature pubarche, Increased circulating insulin-like growth factor 1 concentration, Pituitary g... ORPHA:99725
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Polyphagia, Hyperhidrosis, Pitu... OMIM:300942
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... ORPHA:91347
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Reduced social reciprocity, Motor stereot... OMIM:608636
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon st... ORPHA:79644
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity, Motor stereotypy OMIM:606053
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Bronchial Neuroendocrine Tumor
Anorexia, Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Weight lo... ORPHA:97287
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Mccune-Albright Syndrome
Pancreatitis, Irregular menstruation, Paresthesia, Increased serum testosterone level, Abnormal t... ORPHA:562
Perrault Syndrome 1
Gait ataxia, Intention tremor, Short stature, Ataxia, Primary amenorrhea, Increased circulating g... OMIM:233400
Childhood Disintegrative Disorder
Mental deterioration, Progressive language deterioration, Reduced social reciprocity, Motor stere... ORPHA:168782
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Excessive shyness, Decr... ORPHA:163971
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Memory impairm... ORPHA:251623
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Ppoma
Anorexia, Increased circulating gonadotropin level, Neoplasm of the pancreas, Cholelithiasis, Adr... ORPHA:97278
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Laryngeal Neuroendocrine Tumor
Anorexia, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Inappropriate antidiuret... ORPHA:100083
Grfoma
Anorexia, Increased circulating gonadotropin level, Neoplasm of the pancreas, Cholelithiasis, Adr... ORPHA:97261
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Somatomammotropinoma
Anterior hypopituitarism, Depression, Macroglossia, Pituitary growth hormone cell adenoma, Impote... ORPHA:314769
Vipoma
Anorexia, Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical aden... ORPHA:97282
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Exa... ORPHA:309246
Somatostatinoma
Anorexia, Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical aden... ORPHA:97283
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Glucagonoma
Anorexia, Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical aden... ORPHA:97280
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Short stature, Hypogonadism, Intrauterine growth retardation, Abdomina... OMIM:300869
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Progressive cerebellar ataxia, Weakness of facial musculature,... ORPHA:502423
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Distal sensory impairment, Depression, Truncal ataxia, Dysdiadochokinesis, Tremor, D... OMIM:617675
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Acromegaly
Anterior hypopituitarism, Abnormality of the endocrine system, Depression, Macroglossia, Pituitar... ORPHA:963
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Oculogyric crisis, Limb hypertonia, Tremor, Short stature, Failure to thrive, Dysto... ORPHA:35708
Hsd10 Disease
Optic atrophy, Postnatal growth retardation, Abnormal social behavior, Tremor, Short attention sp... ORPHA:391417
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Gait ataxia, Cogn... OMIM:615300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, Sh... ORPHA:3077
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Ovarian Dysgenesis 4
Decreased body weight, Short stature, Elevated circulating follicle stimulating hormone level, Pr... OMIM:616185
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Reduced social reciprocity, Motor stereotypy OMIM:617820
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior, Short a... ORPHA:444002
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Agenesis of corpus callosum, Restlessness, Aggressive behavior OMIM:605899
49,Xxxyy Syndrome
Low frustration tolerance, Abnormality of the testis size, Decreased testicular size, Eunuchoid h... ORPHA:261534
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Short stature, Ataxia, Pr... ORPHA:243
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
49,Xyyyy Syndrome
Azoospermia, Low frustration tolerance, Abnormality of the testis size, Impulsivity, Decreased te... ORPHA:99330
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Infertility, Decreased serum testosterone concentration, Skeletal muscle atrop... ORPHA:168563
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity, Polyphagia, Aggressive behavior ORPHA:329249
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Pachydermoperiostosis
Hyperhidrosis, Impaired temperature sensation, Elevated circulating growth hormone concentration ORPHA:2796
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Azoospermia, Hyperactivity, Oligozoospermia... ORPHA:8
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... OMIM:619827
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti... ORPHA:1020
Panhypophysitis
Polydipsia, Abnormal thalamic MRI signal intensity, Impotence, Abnormal posterior pituitary morph... ORPHA:95513
Foxg1 Syndrome
Stereotypical hand wringing, Cognitive impairment, Reduced social reciprocity, Motor stereotypy, ... ORPHA:561854
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Exaggera... OMIM:616881
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Distal amyotrophy, Exaggerated st... ORPHA:320406
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Optic nerve hypoplasia, Chorea, Short attention span, Exaggerated startle response,... OMIM:617864
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Hypothyroidism, Hyperhidrosis, Paraspinal muscl... ORPHA:3198
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:137831
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95512
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Depression, Pituitary hypothyroidism, Thyroid hypopl... ORPHA:99832
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Stiff-Person Syndrome
Proximal limb muscle stiffness, Depression, Asymmetric limb muscle stiffness, Exaggerated startle... OMIM:184850
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Oligozoosperm... ORPHA:91351
Immunodeficiency 54
Postnatal growth retardation, Adrenocorticotropic hormone excess, Short stature, Failure to thriv... OMIM:609981
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Autism, Susceptibility To, 3
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608049
Craniopharyngioma
Optic atrophy, Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Postnatal g... ORPHA:54595
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Self-mutilation, Aggre... OMIM:615516
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Limb hyperton... OMIM:608643
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Small pituitary gla... ORPHA:2232
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Reduced social reciprocity, Motor stereotypy, ... OMIM:610042
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Distal amyotrophy, Exaggerated startle response, Hyperhidrosis, Flexion contractur... OMIM:609541
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Short attention span, Excessive... ORPHA:449291
Meningioma
Transient global amnesia, Impotence, Upper limb muscle weakness, Cognitive impairment, Decreased ... ORPHA:2495
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Intellectual Developmental Disorder, Autosomal Dominant 56
Short attention span, Impulsivity, Reduced social reciprocity, Lateral ventricle dilatation, Atte... OMIM:617854
Sandhoff Disease
Orthostatic hypotension, Impaired temperature sensation, Progressive psychomotor deterioration, I... OMIM:268800
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Premature Ovarian Failure 7
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612964
Precocious Puberty, Central, 1
Isosexual precocious puberty, Hypothyroidism, Short stature, Elevated circulating follicle stimul... OMIM:176400
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Male hypogona... OMIM:240950
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Tay-Sachs Disease
Optic atrophy, Abnormal thalamic MRI signal intensity, Hip flexor weakness, Memory impairment, De... ORPHA:845
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Breast aplasia, Secondary am... ORPHA:755
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal temper tantrums, Abnormal social behavior, Motor stereotypy ORPHA:530983
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci... OMIM:300845
Adrenomyeloneuropathy
Adrenocortical abnormality, Distal lower limb muscle weakness, Erectile dysfunction, Distal senso... ORPHA:139399
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... ORPHA:97289
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Young-Onset Parkinson Disease
Agitation, Short attention span, Impulsivity, Cognitive impairment, Restless legs, Frontal lobe d... ORPHA:2828
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Atypical Rett Syndrome
Agitation, Restrictive behavior, Tongue thrusting, Stereotypical hand wringing, Inappropriate lau... ORPHA:3095
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Depression, Pituitary hypothyroidism, Increased pitu... ORPHA:90674
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormal eating behavior, Reduced social reciprocity, Recurrent hand ... ORPHA:544254
Frasier Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased serum estradiol, Increased circulat... ORPHA:347
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxia... OMIM:618056
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Polydipsia, Abnormal autonomic nervous system physiology, Aggressive behavior, D... ORPHA:293987
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnorm... ORPHA:309271
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infer... OMIM:617442
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Central hypothyroidism, Decreased te... OMIM:616113
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Absence of pubertal development, Elevat... OMIM:273250
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Confusion, Limb... ORPHA:100924
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Short stature, Failure to thrive, Elevated circulating... OMIM:305400
Asparagine Synthetase Deficiency
Irritability, Limb hypertonia, Optic nerve hypoplasia, Tremor, Dilated third ventricle, Exaggerat... OMIM:615574
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Punding, Abnormal social behavior ORPHA:64280
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Hypomimic face, Exaggerated startle response, Congenital hypothyroidism, Cognitive... OMIM:617527
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Oligomenorrhea, Obesity, Pituitary adenoma, S... OMIM:219090
Myotonic Dystrophy 2
Oligozoospermia, Sternocleidomastoid amyotrophy, Generalized amyotrophy, Elevated circulating fol... OMIM:602668
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimu... ORPHA:3044
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Growth delay, Elevated circulating follicle stimulating hormone le... OMIM:620501
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Male infertility, Testicular gonadobla... ORPHA:251510
Nelson Syndrome
Optic nerve compression, Adrenocorticotropic hormone excess, Secondary hypercortisolism, Anterior... ORPHA:199244
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Optic nerve compression, Anterior hypopituitarism, Diabetes insipidus, ... ORPHA:91350
Histidinemia
Hyperactivity ORPHA:2157
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Compulsive behaviors, Cognitive impairment, Reduced social reciprocity, Dysphagia, Aggressive beh... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity, Aggressive behavior OMIM:616083
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Decreased testi... ORPHA:79318
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Exaggerated startle response, Hip contracture, Dysphagi... OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Limb hypertonia, Exaggerated startle response, Failure to thrive, Impaired orophar... ORPHA:521426
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... OMIM:400044
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Myoclonic-Astatic Epilepsy
Hyperactivity, Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:1942
Poems Syndrome
Erectile dysfunction, Abnormality of the endocrine system, Hyperesthesia, Hypothyroidism, Primary... ORPHA:2905
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Tremor, Exaggerated startle response, Limb joint contracture, Intrauterine growt... OMIM:620327
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Intrauterine growth retardation, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99413
Turner Syndrome
Delayed puberty, Intrauterine growth retardation, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Intrauterine growth retardation, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99228
Monosomy X
Delayed puberty, Intrauterine growth retardation, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99226
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Short attention span, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Complete Androgen Insensitivity Syndrome
Delayed puberty, Male infertility, Abnormal circulating follicle-stimulating hormone concentratio... ORPHA:99429
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Ragged-red muscle fibers, Exaggerated startle response, Gait ataxia, Ataxia OMIM:620451
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Male infertility, Azoospermia, Ovarian serous cystadenoma, Bilateral cryptorchid... ORPHA:1772
Parkinsonism-Dystonia 3, Childhood-Onset
Reduced social reciprocity, Dysphagia, Aggressive behavior OMIM:619738
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Compulsive behaviors, Diminished ability to concentrate, Reduced social recipr... OMIM:615656
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Stereotypical body rocking, ... OMIM:300912
Gm2-Gangliosidosis, Ab Variant
Chorea, Dystonia, Exaggerated startle response, Dementia OMIM:272750
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:168558
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Compulsive behaviors, Reduced social reciprocity, Agenesis of corpus callosum, Agg... OMIM:309520
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Growth delay, Dysplastic testes, Cryptorchidism, Testicular dysgenesis OMIM:608800
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Short attention span, Inappropriate laughter, Reduced social... OMIM:156200
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618798
Acromesomelic Dysplasia 3
Disproportionate short-limb short stature, Hypergonadotropic hypogonadism, Elevated circulating f... OMIM:609441
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia 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, Calf muscle hypertrophy, Exaggerated startle response, Skeleta... OMIM:253800
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:96263
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed early-childhood social milestone development, Short attention span, Reduced social recipr... ORPHA:300570
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior ORPHA:93932
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Lead Poisoning
Anorexia, Memory impairment, Cognitive impairment, Reduced social reciprocity, Attention deficit ... ORPHA:330015
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, De... ORPHA:95699
Partial Androgen Insensitivity Syndrome
Male infertility, Increased circulating antimullerian hormone concentration, Increased serum test... ORPHA:90797
Cerebral Creatine Deficiency Syndrome 1
Attention deficit hyperactivity disorder, Reduced social reciprocity, Motor stereotypy, Aggressiv... OMIM:300352
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Abnormal social behavior ORPHA:309263
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Reduced social reciprocity, Aggressive behavior OMIM:612469
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Pontocerebellar Hypoplasia, Type 8
Reduced social reciprocity, Dysphagia 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, Reduced social reciprocity, Motor stereotypy ORPHA:261197
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia OMIM:620423
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Exaggerated startle response ORPHA:309155
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Short stature, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:618419
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Disorder Of Deglycosylation 2
Reduced social reciprocity, Dysphagia, Partial agenesis of the corpus callosum OMIM:619775
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm1 Gangliosidosis Type 1
Intrauterine growth retardation, Macroglossia, Exaggerated startle response ORPHA:79255
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulating progesterone, Seco... ORPHA:572333
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Rett Syndrome, Congenital Variant
Bruxism, Reduced social reciprocity, Motor stereotypy, Tongue thrusting OMIM:613454
Phelan-Mcdermid Syndrome
Tongue thrusting, Reduced social reciprocity, Motor stereotypy, Bruxism, Aggressive behavior OMIM:606232
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Impulsivity, Repetitive compulsive behavior, Attention d... ORPHA:805
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Action tremor, Ataxia, Intrauterine growth retardation, O... ORPHA:3455
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:617253
Niemann-Pick Disease Type C
Abnormal social behavior, Compulsive behaviors, Cognitive impairment, Disinhibition, Dysphagia, P... ORPHA:646
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodegeneration With Brain Iron Accumulation 2A
Reduced social reciprocity OMIM:256600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Irritability, Dysphagia, Exaggerated startle response OMIM:618367
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Compulsive behaviors, Reduced so... ORPHA:404448
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Exaggerated startle response, Stereotypical hand wringing, H... ORPHA:438213
46,Xx Sex Reversal 2
Azoospermia, Infertility, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:278850
46,Xx Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:400045
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Agitation, Restrictive behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Cognitive impa... OMIM:619475
7Q11.23 Microduplication Syndrome
Hyperactivity, Polyphagia, Collectionism, Reduced social reciprocity, Motor stereotypy, Self-inju... ORPHA:96121
Alg11-Cdg
Reduced social reciprocity ORPHA:280071
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior, Aggressive behavior ORPHA:314647
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Polyphagia, Compulsive behaviors, Dysphagia, Motor stereotypy, Reduced social reci... OMIM:615873
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Absent testis, Decreased serum testos... ORPHA:325124
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Agenesis of corpus callosum, Overfriendliness, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Agenesis of corpus callosum, Overfriendliness, ... ORPHA:363958
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Aggressive behavior, Abnormal fear-induced behavior, Emotional labi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Aggressive behavior, Abnormal fear-induced behavior, Emotional labi... ORPHA:353277
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Neuroendocrine Neoplasm Of Appendix
Anorexia, Ovarian neoplasm, Adrenocorticotropic hormone excess, Intestinal carcinoid, Increased s... ORPHA:100079
Trichothiodystrophy
Reduced social reciprocity, Partial agenesis of the corpus callosum ORPHA:33364
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Short stature, Growth delay, Chordee, Dysphagia, Motor stereotypy, ... OMIM:619522
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Williams Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors, Overfri... ORPHA:904
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Oppositional defiant disorder, Dysphagia, Reduced social reciprocity, Lateral ventric... OMIM:607872
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Reduced social reciprocity ORPHA:457359
17Q11 Microdeletion Syndrome
Short attention span, Reduced social reciprocity, Memory impairment ORPHA:97685
Mowat-Wilson Syndrome
Reduced social reciprocity, Agenesis of corpus callosum, Dysphagia, Motor stereotypy, Bruxism 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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