Gene Summary

Name:
intersectin 1 (SH3 domain protein 1A)
Synonyms:
Sh3p17,  EHSH1,  Eh domain, SH3 domain regulator of endocytosis 1,  Intersectin-L,  Ese1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating amylase level Itsn1em1(IMPC)H HOM Early adult 2.53×10-08
decreased prepulse inhibition Itsn1em1(IMPC)H HOM   Early adult 2.52×10-05
increased circulating serum albumin level Itsn1em1(IMPC)H HOM Early adult 5.59×10-05
increased circulating total protein level Itsn1em1(IMPC)H HOM Early adult 1.87×10-05
abnormal gait Itsn1em1(IMPC)H HOM Early adult 1.27×10-05
abnormal skin coloration Itsn1em1(IMPC)H HOM Early adult 2.80×10-11
decreased exploration in new environment Itsn1em1(IMPC)H HET Early adult 9.45×10-07
limb grasping Itsn1em1(IMPC)H HOM Early adult 1.04×10-08
increased circulating alkaline phosphatase level Itsn1em1(IMPC)H HOM Early adult 4.67×10-18
increased circulating iron level Itsn1em1(IMPC)H HOM Early adult 9.34×10-12

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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.

Phenotype associated images not available

Human diseases caused by Itsn1 mutations

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

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

The table below shows human diseases associated to Itsn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Abnormal hippocampus morphology, Leukoencephalopathy, Bilateral generalized pol... ORPHA:178469

The table below shows human diseases predicted to be associated to Itsn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Severe postnatal growth retardation, Pituitary dwarfism, S... OMIM:262700
Phosphoserine Phosphatase Deficiency
Microcephaly, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Abnormality of the anterior commissure, Fusion of the left and right... OMIM:617542
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia OMIM:607250
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Failure to thrive, Ataxia OMIM:618276
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Lissencephaly 4
Agenesis of corpus callosum, Growth delay, Microcephaly, Lissencephaly, Simplified gyral pattern,... OMIM:614019
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Ataxia, Lissencephaly, Pachygyria, Postnatal growth retardation OMIM:300067
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia ORPHA:94124
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Growth delay, Primary microcephaly OMIM:618010
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Microcephaly, Lissencephaly, Frontoparietal cortical dysplasia, Pach... OMIM:610031
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Corpus Callosum, Agenesis Of
Microcephaly, Growth delay, Agenesis of corpus callosum OMIM:217990
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... OMIM:233810
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Short... OMIM:608716
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ataxia, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia ... OMIM:611603
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of the basal ganglia, Primary microcephaly, Hypoplasia of the olfactory bulb, Small b... ORPHA:300570
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Sub-Cortical Nodular Heterotopia
Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal cerebral cortex morpholog... ORPHA:101029
Microcephaly 16, Primary, Autosomal Recessive
Decreased body weight, Agenesis of corpus callosum, Microcephaly, Simplified gyral pattern, Short... OMIM:616681
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Agenesis of corpus callosum ORPHA:85334
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Ataxia, Hypertriglyceridemia ORPHA:158048
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Microcephaly, Short stature, Abdominal obesity, Postnatal growth retardation, De... OMIM:618160
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Ataxia, Elevated circula... ORPHA:64753
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Basal ganglia calcification, Paresthesia OMIM:615361
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Gait ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia... OMIM:208920
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum OMIM:166990
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Spinocerebellar Ataxia 23
Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the lower limbs, Gait ata... OMIM:610245
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Cognitive impairment, Abnormal caudate nucleus morphology, A... ORPHA:300573
Masa Syndrome
Short stature, Agenesis of corpus callosum ORPHA:2466
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Microcephaly, Simplified gyral pattern, Failure to thrive, Short sta... OMIM:617090
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Agenesis of corpus callosum, Mild short statur... OMIM:614833
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Short stature, Intrauterine growth retardation OMIM:619025
Mucolipidosis Iv
Microcephaly, Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyeli... OMIM:252650
Bowen Syndrome Of Multiple Malformations
Failure to thrive, Agenesis of corpus callosum OMIM:211200
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Simplified gyral pattern, Short stat... OMIM:618492
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Hypertriglyceridemia, Hyp... ORPHA:90041
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Growth delay, Short stature, Agenesis of corpus callosum OMIM:612337
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration OMIM:246700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Increased to... OMIM:267700
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hemochromatosis Type 2
Increased circulating ferritin concentration, Generalized hyperpigmentation, Elevated transferrin... ORPHA:79230
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Growth delay, Microcephaly, Failure to thrive OMIM:274270
Band Heterotopia
Polymicrogyria, Agenesis of corpus callosum, Subcortical band heterotopia OMIM:600348
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Spastic Paraplegia 11, Autosomal Recessive
Agenesis of corpus callosum, Obesity, Mental deterioration, Impaired vibration sensation in the l... OMIM:604360
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplastic hippocampus, Agenesis of c... ORPHA:85179
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum OMIM:619501
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Increased serum pyruvate, Ataxia, Unsteady gait, Elevated circulating creatine kinase ... OMIM:619405
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Saccharopinuria
Hyperlysinemia, Abnormality of circulating enzyme level, Elevated plasma citrulline, Hypercystine... ORPHA:3124
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Failure to thrive, Hypoplasia of the corpus call... OMIM:614924
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Elevated transferrin saturati... OMIM:613313
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Short stature, Postnatal growth retardation, Cortical dysplasia OMIM:608278
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait OMIM:618805
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Blepharospasm, Aceruloplasmin... OMIM:604290
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Decreased body weight, Agenesis of corpus callosum, Intrauterine growth re... ORPHA:255138
Foxg1 Syndrome
Abnormal corpus callosum morphology, Cognitive impairment, Decreased body weight, Agenesis of cor... ORPHA:561854
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Choreoathetosis, Intrauterine growth retardation, Agenesis of corpus callosum, F... OMIM:618238
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Acute ... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Short stature, Reduced circulating pro... OMIM:262600
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Abnormality of iron homeostasis ORPHA:75563
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Small for gestational age, Basal ganglia cysts, Ch... OMIM:312170
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency, Hypogonadism OMIM:612079
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Alg6-Cdg
Ataxia, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Short stature, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:262767
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Increased to... OMIM:603553
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Growth delay, Microcephaly, Short s... ORPHA:2512
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Increased serum iron, Elevated transferrin saturati... OMIM:604250
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Azoospermia,... OMIM:300200
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Decreased body weight, Intrauterine growth retardation, Small for gestational age, Microcephaly, ... OMIM:618346
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Omenn Syndrome
Hypoproteinemia OMIM:603554
Dengue Fever
Hypoproteinemia ORPHA:99828
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619466
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Cerebral atrophy, Hypoplastic hippocampus, Agenesis of corpus callosum OMIM:600329
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron, Hyperpigmentation of the skin OMIM:602390
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Morphological abnormality of the corticospinal tract, Dysgenesis of ... ORPHA:238722
Combined Oxidative Phosphorylation Deficiency 53
Short stature, Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly OMIM:619423
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Microcephaly, Failure to thrive, Short stature, Decreased response t... OMIM:615286
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hyperpigmentation of the skin, Elevated transferrin... OMIM:606069
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Agenesis of corpus callosum, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal at... ORPHA:453521
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypopigmentation of ... ORPHA:167
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Decreased serum iron, Blepharospasm, Decr... ORPHA:48818
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Short stature, Chorea, Postnatal growth retardation, Punc... ORPHA:309246
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Leptospirosis
Hyperproteinemia ORPHA:509
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Ataxia, Hypertriglyceridemia OMIM:617575
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Abnormal periventricular white matter morphology, H... OMIM:616900
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Intrauterine growth retardation, Short... OMIM:609981
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Central adrenal insufficiency, Growth delay, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Central adrenal insufficiency, Growth delay, Decreased... ORPHA:71526
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Choreoathetosis, Progressive microcephaly... ORPHA:2524
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern, Failure to thrive, Short stat... OMIM:619179
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Hypermanganesemia With Dystonia 1
Dystonia, Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Unconjugated h... OMIM:613280
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Failure to thrive in infancy, Multifocal hy... ORPHA:488627
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Intrauterine growth retardation, Microcephaly, Short stature, Hy... OMIM:616975
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Short stature, Absent septum pellucid... OMIM:182230
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Intrauterine growth retardation, Athetosis, Ataxia, Primary microceph... ORPHA:357058
Autoimmune Polyendocrinopathy Type 2
Primary adrenal insufficiency, Hashimoto thyroiditis, Graves disease, Abnormality of the thyroid ... ORPHA:3143
Craniotelencephalic Dysplasia
Absent septum pellucidum, Lissencephaly, Agenesis of corpus callosum, Arrhinencephaly OMIM:218670
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Short stature, Abnormality of thalamus morphology, Focal white matter... ORPHA:557003
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Unconjugated hyperbilirubinemia, Increased serum ir... ORPHA:766
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Agenesis of corpus callosum, Growth delay, Primary microcephaly, Microcephaly, Nonprogressive cer... ORPHA:466688
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Arrhinencephaly ORPHA:1528
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Glycerol Kinase Deficiency
Adrenal insufficiency, Short stature, Growth delay, Adrenocortical hypoplasia OMIM:307030
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Leishmaniasis
Hypoalbuminemia ORPHA:507
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Mental deterioration, Ataxia, Abnormal periventricular white matter ... OMIM:618476
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria, Failure to thrive ORPHA:2328
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Microhydranencephaly
Agenesis of corpus callosum, Hydranencephaly, Athetosis, Microcephaly, Short stature, Pachygyria OMIM:605013
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hypoalbuminemia, Difficulty walking, Hyperammonemia ORPHA:1667
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Delpire-Mcneill Syndrome
Agenesis of corpus callosum, Cortical dysplasia OMIM:619083
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron OMIM:212050
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Absent septum pellucidum, Agenesis of corpus callosum, Corticospinal tract hypoplasia OMIM:307000
Hydrolethalus Syndrome 2
Anencephaly, Agenesis of corpus callosum OMIM:614120
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Intrauterine growth retardation, Hydranencephaly, Agenesis of corpus callosum OMIM:225790
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Triple A Syndrome
Adrenal insufficiency, Short stature, Anterior hypopituitarism ORPHA:869
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Decreased plasma carnitine, Hypoalbuminemia, Abnormal... ORPHA:89842
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:300298
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Dystonia, Dysdiadochokinesis, Decreased circulating ferritin concentration, Abnorm... ORPHA:309854
Abetalipoproteinemia
Dysmetria, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Ataxia, Steppage gait, G... ORPHA:14
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropin defici... ORPHA:91349
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized reticulate brown pigmentation, Hypopigmentation of the skin, Depigmentation/hyperpigm... ORPHA:79396
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypogonadism OMIM:617872
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Hyperintensity of c... ORPHA:544488
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Ataxia, Microcephaly, Short stature, Hyp... ORPHA:314679
Neonatal Adrenoleukodystrophy
Short stature, Primary adrenal insufficiency, Abnormality of neuronal migration ORPHA:44
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hyperpigmentation of the skin, Conjugated hyperbilirubi... ORPHA:186
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Dystonia, Ataxia, Hypoalbuminemia OMIM:251300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556037
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Ataxia, Hypoalbuminemia OMIM:212065
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Wolman Disease
Adrenal insufficiency, Growth delay, Adrenal calcification ORPHA:75233
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Increased serum iron, Hyperpigmentation of the skin OMIM:235200
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556030
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Increased circ... OMIM:177735
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Aicardi-Goutieres Syndrome 9
Dystonia, Hypoalbuminemia OMIM:619487
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Abnormal corpus callosum morphology, Hypoplasia of the corpus ca... ORPHA:261552
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypogonadism, Decrea... OMIM:240300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Adrenocorticotropic hormone excess, Primary adrenal insuffici... ORPHA:90793
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism OMIM:264350
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:618569
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Decreased hepcidin level, Hypopigmentation of the s... ORPHA:101330
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Increased circulating 18-hydroxycortisone level, Growth delay,... OMIM:610600
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating ACTH level ORPHA:43
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Abnormality of... ORPHA:361
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Ane Syndrome
Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, Delayed puberty, Anter... ORPHA:157954
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Short stature, Decreased circulating renin level, Growth... OMIM:218030
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Pierson Syndrome
Hypoproteinemia OMIM:609049
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Craniopharyngioma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Proportionate short stature, Hypopitui... ORPHA:54595
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Distal Monosomy 13Q
Short stature, Primary adrenal insufficiency ORPHA:1590
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency ORPHA:977
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Growth delay, Increased circulati... ORPHA:427
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Hypoalbuminemia, Reduced circulating transferrin concentration, Decreased pr... ORPHA:90363
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus ORPHA:2047
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Hypoalbuminemia, Abnormal circulat... ORPHA:2298
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Decreased circulating ACTH level, Central adr... ORPHA:2965
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Growth delay ORPHA:261476
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Growth delay, Increased circulating renin level OMIM:203400
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:98754
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:98793
African Iron Overload
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Elevated trans... ORPHA:139507
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Hashimoto thyroidi... ORPHA:95512
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:177904
Kearns-Sayre Syndrome
Short stature, Primary adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism OMIM:530000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:177901
Zttk Syndrome
Dysplastic corpus callosum, Intrauterine growth retardation, Growth delay, Failure to thrive, Sho... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Pineal cyst, Slender build, Ataxia, Thick corpus callosum, Delayed pu... OMIM:300967
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypothyroidism, Hypopituitarism, Growth delay, Hypoparathyroidism, Diabete... ORPHA:231226
Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:398073
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopit... ORPHA:91355
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Central adrenal insufficiency, Adrenocorticotropin deficient adrenal... ORPHA:91347
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevated circulating... ORPHA:99826
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Perisylvian polymicrogyria, De... ORPHA:739
Beta-Thalassemia Major
Adrenal insufficiency, Hypothyroidism, Hypopituitarism, Growth delay, Hypoparathyroidism, Diabete... ORPHA:231214
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Secondary microcephaly, Ab... OMIM:618820
Beta-Thalassemia Intermedia
Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Diabetes mellitus, Hypogonadism ORPHA:231222
Mirage Syndrome
Adrenal insufficiency, Short stature, Hypergonadotropic hypogonadism, Intrauterine growth retarda... OMIM:617053
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Intrauterine growth retardation, Small for gestational age, Obesity, ... OMIM:613406
Achalasia-Addisonianism-Alacrima Syndrome
Short stature, Decreased circulating aldosterone level, Decreased circulating cortisol level, Adr... OMIM:231550
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Decreased response to gro... OMIM:176270
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... ORPHA:90791
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Intrauterine growth retardation, Decreased circulating... ORPHA:320
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Increased serum test... OMIM:202010
Zellweger Syndrome
Short stature, Polymicrogyria, Primary adrenal insufficiency ORPHA:912
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
White-Kernohan Syndrome
Dysplastic corpus callosum, Obesity OMIM:619426
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Increased circulating renin le... ORPHA:289548
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Hypothyroidism, Primary adrenal insufficiency, Hyperthyroidism... OMIM:269200
Addison Disease
Primary adrenal insufficiency, Increased circulating renin level, Hashimoto thyroiditis, Decrease... ORPHA:85138
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Abnormal hippocampus morphology, Leukoencephalopathy, Bilateral generalized pol... ORPHA:178469
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Adrenal calcification OMIM:278000
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Central adrenal insufficiency OMIM:616007
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Anterior pituitary hypoplasia, Slender build, Ataxia, Failure to thri... ORPHA:466791
Adrenomyeloneuropathy
Adrenal insufficiency, Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Adrenoc... ORPHA:139399
Myasthenia Gravis
Hashimoto thyroiditis, Abnormality of the thymus, Primary adrenal insufficiency, Hyperthyroidism ORPHA:589
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Increased circulating renin le... ORPHA:168558
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Dilation of lateral ventricles, Intrauterine growth retardation, Fail... ORPHA:500150
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Increased circulating renin level, Decreased circulating cortisol ... ORPHA:95409
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Primary gonadal insufficiency, Delayed puberty, Azoospermia, Elevated circ... ORPHA:251510
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Increased circulating prolactin concentration, Dia... ORPHA:2905
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Graves disease, Decreased circulating cortisol level, Adrenocorticotropin ... ORPHA:199299
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Carney Triad
Paraganglioma, Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity ORPHA:139411
Pearson Syndrome
Exocrine pancreatic insufficiency, Adrenal insufficiency, Hypothyroidism, Growth delay, Hypoparat... ORPHA:699
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Decreased circulating aldosterone level, Oligospermia, Abnormal... ORPHA:786
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Syndromic Diarrhea
Cafe-au-lait spot, Generalized hypopigmentation, Abnormality of iron homeostasis ORPHA:84064
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased circulating progesterone, Hypogona... ORPHA:90794
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Alacrima, Achalasia, And Mental Retardation Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Primary adrenal insufficiency, Male hypogonadism ORPHA:139396
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Central adrenal insufficie... ORPHA:488632
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
D-Bifunctional Protein Deficiency
Polymicrogyria, Primary adrenal insufficiency OMIM:261515
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Precocious puberty, Postnatal growth ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Precocious puberty, Postnatal growth ... ORPHA:363958
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Acute pancreatitis, Orchitis, Parotitis, Inappropriate antidiuretic hormon... ORPHA:99827
Microphthalmia, Syndromic 2
Short stature, Adrenal insufficiency, Hypothyroidism OMIM:300166
Pallister-Hall Syndrome
Gonadotropin deficiency, Primary adrenal insufficiency, Intrauterine growth retardation, Panhypop... ORPHA:672
Orofaciodigital Syndrome Type 4
Severe short stature, Growth delay, Primary adrenal insufficiency, Intrauterine growth retardation ORPHA:2753
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Pmm2-Cdg
Reduced thyroxin-binding globulin, Ataxia, Hypoalbuminemia ORPHA:79318
Acute Liver Failure
Adrenal insufficiency ORPHA:90062

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 Itsn1

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 Itsn1.

No publications found that use IMPC mice or data for Itsn1.

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MGI Allele Allele Type Produced
Itsn1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itsn1em1(IMPC)H Exon Deletion Mice

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