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Gene: Itsn1 MGI:1338069

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Itsn1em1(IMPC)H HOM Early adult 1.26×10-05
increased circulating total protein level Itsn1em1(IMPC)H HOM Early adult 2.00×10-05
abnormal skin coloration Itsn1em1(IMPC)H HOM Early adult 2.76×10-11
increased circulating amylase level Itsn1em1(IMPC)H HOM Early adult 1.90×10-08
limb grasping Itsn1em1(IMPC)H HOM Early adult 1.04×10-08
decreased prepulse inhibition Itsn1em1(IMPC)H HOM   Early adult 2.57×10-05
increased circulating serum albumin level Itsn1em1(IMPC)H HOM Early adult 5.85×10-05
increased circulating iron level Itsn1em1(IMPC)H HOM Early adult 2.49×10-10
decreased exploration in new environment Itsn1em1(IMPC)H HET Early adult 6.08×10-07
increased circulating alkaline phosphatase level Itsn1em1(IMPC)H HOM Early adult 2.22×10-17

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... OMIM:262700
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Short attention span, Abno... ORPHA:500166
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... OMIM:620317
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Agenesis of corpus callosum OMIM:617542
Microcephaly 5, Primary, Autosomal Recessive
Short stature, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex,... OMIM:608716
Lissencephaly, X-Linked, 1
Ataxia, Postnatal growth retardation, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Failure to thrive, Ataxia, Microcephaly OMIM:618276
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Lissencephaly 4
Short stature, Simplified gyral pattern, Growth delay, Colpocephaly, Lissencephaly, Primary micro... OMIM:614019
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Corpus Callosum, Agenesis Of
Growth delay, Agenesis of corpus callosum, Microcephaly OMIM:217990
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Short stature, Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy... OMIM:618492
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Postnatal growth retardation, Partial agenesis of the corpu... ORPHA:300570
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Truncal ataxia, Limb ataxia, ... OMIM:208920
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia ORPHA:599373
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... OMIM:610031
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the co... OMIM:618325
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia ORPHA:158048
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Diarrhea 13
Hypoalbuminemia OMIM:620357
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Spinocerebellar Ataxia 23
Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Dysmetria, Gait ... OMIM:610245
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Rhizomelia OMIM:166990
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus cal... OMIM:615771
Lissencephaly 3
Ataxia, Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyri... OMIM:611603
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Masa Syndrome
Agenesis of corpus callosum, Short stature ORPHA:2466
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Dysplastic corpus callosum, Hypoesthesia, Obesity, Memory impairmen... OMIM:619737
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Dystonia, Hypercho... OMIM:616267
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Microcephaly 17, Primary, Autosomal Recessive
Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, P... OMIM:617090
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Combined Oxidative Phosphorylation Deficiency 50
Intrauterine growth retardation, Short stature, Adrenal insufficiency OMIM:619025
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Mi... OMIM:614833
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Mucolipidosis Iv
Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyelination, Microc... OMIM:252650
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Growth delay, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im... OMIM:604360
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Generalized hyperp... ORPHA:79230
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Intrauterine growth retardation, Dysplastic corpus callosum OMIM:620135
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Lissencephaly Due To Tuba1A Mutation
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... ORPHA:171680
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Abnormality of circulating enzyme level, El... ORPHA:3124
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Foxg1 Syndrome
Short stature, Choreoathetosis, Severe postnatal growth retardation, Hypoplasia of the corpus cal... ORPHA:561854
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Aceruloplasminemia
Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Acerulop... OMIM:604290
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:613313
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular cysts, Corticospinal tract hypoplasia, Hypoplasia of the corpus callosum,... ORPHA:255138
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Choreoathetosis, Intrauterine growth retardation, Failure to thrive, Agenesis of... OMIM:618238
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Abnormality of iron homeostasis ORPHA:75563
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia OMIM:608093
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Basal ganglia calcification, Paresthesia OMIM:615361
Microcephaly 10, Primary, Autosomal Recessive
Small for gestational age, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebr... OMIM:615095
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... OMIM:603553
Pontocerebellar Hypoplasia, Type 11
Ataxia, Short stature, Microcephaly, Limb ataxia, Hypoplasia of the corpus callosum, Decreased bo... OMIM:617695
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Autosomal Recessive Primary Microcephaly
Short stature, Microcephaly, Growth delay, Hypoplasia of the frontal lobes, Pachygyria, Agenesis ... ORPHA:2512
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum OMIM:619466
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Microcephaly 3, Primary, Autosomal Recessive
Short stature, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, G... OMIM:604804
Dengue Fever
Hypoproteinemia ORPHA:99828
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron, Hyperpigmentation of the skin OMIM:602390
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Reni Syndrome
Ataxia, Hypertriglyceridemia, Hypoalbuminemia, Hyperpigmentation of the skin OMIM:617575
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Failure to thrive, Simplified gyral pattern, Microcephaly OMIM:620001
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Failure to thrive, Short stature, Secondary microcephaly OMIM:619423
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Intention tremor, Action tremor OMIM:254900
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Choreoathetosis, Hypoplasia of the corpus... ORPHA:2524
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Hyperpigmentation ... OMIM:606069
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Chédiak-Higashi Syndrome
Hyponatremia, Hypopigmentation of the skin, Hypertriglyceridemia, Ataxia, Tremor, Increased circu... ORPHA:167
Even-Plus Syndrome
Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum OMIM:616854
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Dysmetria, Truncal ataxia, Failure to thrive, Agenesis of corpus callosum OMIM:250620
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Ataxia, Postnatal growth retardation, Dysplastic corpus callosum, Athetosi... ORPHA:357058
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Cafe-au-lait spot,... OMIM:615234
Immunodeficiency 54
Short stature, Postnatal growth retardation, Adrenocorticotropic hormone excess, Adrenal insuffic... OMIM:609981
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Failure to thrive, Microcephaly OMIM:604273
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Leptospirosis
Hyperproteinemia ORPHA:509
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Microcephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, ... OMIM:616975
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Aceruloplasminemia
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... ORPHA:48818
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Short stature, Microcephaly, Dysplastic corpus callosum, Simplified gyral patt... OMIM:619179
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast... ORPHA:488627
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Steppage gait, Increased total iron binding capacity, Unconjugated hyp... OMIM:613280
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebral cortex,... OMIM:617914
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Gm2 Gangliosidosis, Ab Variant
Short stature, Postnatal growth retardation, Chorea, Cerebral atrophy, Cognitive impairment, Punc... ORPHA:309246
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Omenn Syndrome
Hypoproteinemia OMIM:603554
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria ORPHA:2328
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia ORPHA:1667
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Leishmaniasis
Hypoalbuminemia ORPHA:507
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Septooptic Dysplasia
Agenesis of corpus callosum, Short stature, Absent septum pellucidum OMIM:182230
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Short stature, Focal white matter lesions ORPHA:557003
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Insulin-Like Growth Factor I Deficiency
Short attention span, Short stature, Microcephaly, Postnatal growth retardation, Decreased body w... OMIM:608747
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Failure to th... OMIM:614924
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callos... ORPHA:544488
Triple A Syndrome
Anterior hypopituitarism, Short stature, Adrenal insufficiency ORPHA:869
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Increased serum iron, Elevated hepatic iron concent... ORPHA:300298
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Action tremor, Truncal ataxia, Dysdiadochokinesis,... ORPHA:309854
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc... ORPHA:14
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Short stature, Abnormality of neuronal migration ORPHA:44
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Cerebrofacioarticular Syndrome
Short stature, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosu... ORPHA:314679
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Intention tremor OMIM:212065
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentation, Hypoalbumine... ORPHA:79396
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Hypoalbuminemia, Ataxia, Dystonia OMIM:251300
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Short stature, Adrenocorticotropin receptor defect, Adrenal... OMIM:231550
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Tremor, Hand tremor, H... OMIM:277900
Wolman Disease
Growth delay, Adrenal insufficiency, Adrenal calcification ORPHA:75233
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556037
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Trichohepatoenteric Syndrome 1
Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality of iron homeostasis, Gener... OMIM:222470
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyperpi... ORPHA:186
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:264350
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... OMIM:177735
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Developmental And Epileptic Encephalopathy 49
Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly OMIM:617281
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556030
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... OMIM:240300
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Dystonia OMIM:619487
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Short stature, Focal hypointensity of cerebral white matter on MRI, Impaired p... ORPHA:261552
Ane Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Anterior pituitary hypoplasia, Decre... ORPHA:157954
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Grow... OMIM:610600
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... ORPHA:101330
Apparent Mineralocorticoid Excess
Growth delay, Decreased circulating aldosterone level, Short stature, Decreased circulating renin... OMIM:218030
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Pierson Syndrome
Hypoproteinemia OMIM:609049
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus ORPHA:2047
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98754
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Microcephaly, Dysplastic corpus callosum, Intrauterine growth retardation, Failure... OMIM:151050
Adrenomyodystrophy
Primary adrenal insufficiency, Short stature ORPHA:977
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Familial Hypoaldosteronism
Growth delay, Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulati... ORPHA:427
Mirage Syndrome
Short stature, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Adrenal insuff... OMIM:617053
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98793
Xp21 Deletion Syndrome
Growth delay, Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency ORPHA:261476
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177904
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177901
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten... OMIM:618820
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
White-Kernohan Syndrome
Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder OMIM:619426
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 fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Distal Deletion 13Q
Primary adrenal insufficiency, Short stature ORPHA:1590
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus, Short stature OMIM:530000
Prader-Willi Syndrome
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Growth delay, Adrenal insufficiency, Delayed puberty, Hypo... ORPHA:231226
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Zttk Syndrome
Failure to thrive, Short stature, Dysplastic corpus callosum, Growth delay, Abnormal cerebral whi... OMIM:617140
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogen... OMIM:202010
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... ORPHA:199296
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism ORPHA:231222
Prader-Willi Syndrome
Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Dysplastic corpus callosum, Thick corpus callosum, Delayed puberty, Slender build OMIM:300967
Zellweger Syndrome
Primary adrenal insufficiency, Cryptorchidism, Polymicrogyria, Short stature ORPHA:912
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... ORPHA:168558
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Growth delay, Adrenal insufficiency, Delayed puberty, Hypo... ORPHA:231214
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Adrenal cal... ORPHA:85138
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Apparent Mineralocorticoid Excess
Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Decrea... ORPHA:320
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Short stature, Chronic pancreatitis, Cryptorchidism, Growth delay, Adr... OMIM:307030
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... ORPHA:251510
Cholesteryl Ester Storage Disease
Adrenal insufficiency, Adrenal calcification OMIM:278000
Liddle Syndrome 2
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Delayed puberty, Failure t... ORPHA:466791
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... ORPHA:139399
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Myasthenia Gravis
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis ORPHA:589
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insufficiency, Increase... ORPHA:95409
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Proportionate short stature, Dysplastic corpus callosum, Simplified... ORPHA:500150
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Witteveen-Kolk Syndrome
Short stature, Small for gestational age, Microcephaly, Dysplastic corpus callosum, Cortical dysp... OMIM:613406
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... ORPHA:227982
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Short stature, Hypogonadotropic hypogonadism, Precocious pu... ORPHA:90794
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Growth delay, Central adrenal insufficiency, Short stature, Decreased response to growth hormone ... OMIM:616007
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Pos... ORPHA:699
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma ORPHA:139411
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... ORPHA:227990
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
Syndromic Diarrhea
Generalized hypopigmentation, Cafe-au-lait spot, Abnormality of iron homeostasis ORPHA:84064
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
D-Bifunctional Protein Deficiency
Polymicrogyria, Primary adrenal insufficiency OMIM:261515
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Testicular neoplasm, Postnatal growth reta... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Testicular neoplasm, Postnatal growth reta... ORPHA:363958
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Orofaciodigital Syndrome Type 4
Decreased testicular size, Severe short stature, Monorchism, Primary adrenal insufficiency, Growt... ORPHA:2753
Pallister-Hall Syndrome
Thyroid hypoplasia, Short stature, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adreno... ORPHA:672
Microphthalmia, Syndromic 2
Cryptorchidism, Short stature, Hypothyroidism, Adrenal insufficiency OMIM:300166
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Orchitis, Hyperhidrosis, Adrenal insufficiency, Inappropriate antidiuretic ho... ORPHA:99827
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia, Ataxia 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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