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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 skin coloration Itsn1em1(IMPC)H HOM Early adult 2.76×10-11
limb grasping Itsn1em1(IMPC)H HOM Early adult 1.04×10-08
increased circulating alkaline phosphatase level Itsn1em1(IMPC)H HOM Early adult 2.01×10-17
abnormal gait Itsn1em1(IMPC)H HOM Early adult 1.26×10-05
increased circulating total protein level Itsn1em1(IMPC)H HOM Early adult 2.26×10-05
decreased exploration in new environment Itsn1em1(IMPC)H HET Early adult 6.08×10-07
decreased prepulse inhibition Itsn1em1(IMPC)H HOM   Early adult 2.57×10-05
increased circulating serum albumin level Itsn1em1(IMPC)H HOM Early adult 6.29×10-05
increased circulating iron level Itsn1em1(IMPC)H HOM Early adult 2.67×10-11
increased circulating amylase level Itsn1em1(IMPC)H HOM Early adult 2.81×10-08

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
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Severe postnatal growth retardation... OMIM:262700
Schizencephaly
Agenesis of corpus callosum, Schizencephaly, Cerebral cortical atrophy OMIM:269160
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... OMIM:600638
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Dyspl... 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
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Lissencephaly, X-Linked, 1
Ataxia, Pachygyria, Agyria, Lissencephaly, Postnatal growth retardation, Agenesis of corpus callosum OMIM:300067
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Microcephaly, Ataxia, Dysplastic corpus callosum OMIM:618276
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral... OMIM:614039
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia ORPHA:94124
Lissencephaly 4
Colpocephaly, Primary microcephaly, Simplified gyral pattern, Short stature, Growth delay, Lissen... OMIM:614019
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly, Growth delay OMIM:618010
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia OMIM:607250
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly, Growth delay OMIM:217990
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Postural trem... ORPHA:64753
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Ataxia, Loss of ambulation, Elevated circulating creatine kinase concentration, Trem... OMIM:208920
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... OMIM:615517
Microcephaly 5, Primary, Autosomal Recessive
Simplified gyral pattern, Short stature, Small cerebral cortex, Microcephaly, Cortical dysplasia,... OMIM:608716
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Agenesis of... ORPHA:101029
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia OMIM:613752
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Thin corpus callosum, Pachygyria ORPHA:572013
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Polymicrogyria, Partial agenesis of the corpus callosum, Frontoparietal cortical dysplasia, Pachy... OMIM:610031
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Pachygyria, Microcephaly, Lissencephaly, Hypoplastic anterior commissure, Hypoplas... OMIM:618325
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia ORPHA:158048
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Agenesis of the anterior commissure, Type II lissencephaly, Polymicrogyria, Primary microcephaly,... ORPHA:300570
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 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Spinocerebellar Ataxia 23
Limb ataxia, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired distal propri... OMIM:610245
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Abnormal caudate nucleus morphology, Abnormal corpus callosum morphology, Schizen... ORPHA:300573
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum OMIM:166990
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Ataxia, Dysg... OMIM:615771
Lissencephaly 3
Polymicrogyria, Ataxia, Pachygyria, Microcephaly, Agyria, Lissencephaly, Hypoplasia of the corpus... OMIM:611603
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Masa Syndrome
Agenesis of corpus callosum, Short stature ORPHA:2466
Combined Oxidative Phosphorylation Deficiency 54
Periventricular white matter hyperintensities, Hypoesthesia, Secondary microcephaly, Intrauterine... OMIM:619737
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Dystonia, Hyp... OMIM:616267
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum ORPHA:250972
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate OMIM:603358
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Intrauterine growth retardation, Short stature OMIM:619025
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Decreased body weight, Short stature, Dysplastic corpus callosum, Microcephaly, M... OMIM:614833
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Microcephaly 17, Primary, Autosomal Recessive
Primary microcephaly, Microlissencephaly, Simplified gyral pattern, Short stature, Failure to thr... OMIM:617090
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Simplified gyral pattern, Absent septum pellucidum, Short stature, Microcephaly... OMIM:618492
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Mucolipidosis Iv
Progressive neurologic deterioration, Microcephaly, Cerebral dysmyelination, Dysplastic corpus ca... OMIM:252650
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal transferrin saturation, Elevated hepatic i... ORPHA:254704
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Increased total bilirubin, Hype... OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Obesity, Impaired vibration sensation in the lower l... OMIM:604360
Chylomicron Retention Disease
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia OMIM:246700
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Cerebral atrophy, Abnormal basal ganglia morphology, Periven... ORPHA:255182
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Failure to thrive, Microcephaly, Growth delay, Agenesis of corpus callosum OMIM:274270
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Generalized hyperpigmentation, ... ORPHA:79230
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Intrauterine growth retardation, Dysplastic corpus callosum OMIM:620135
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Lissencephaly Due To Tuba1A Mutation
Polymicrogyria, Partial agenesis of the corpus callosum, Perisylvian polymicrogyria, Hypoplastic ... ORPHA:171680
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Saccharopinuria
Hyperammonemia, Elevated plasma citrulline, Tremor, Gait ataxia, Hypercystinemia, Abnormality of ... ORPHA:3124
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hyperpigmentation of the skin, Elevated transferrin... OMIM:613313
Foxg1 Syndrome
Abnormal corpus callosum morphology, Progressive microcephaly, Decreased body weight, Severe post... ORPHA:561854
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Aceruloplasminemia
Torticollis, Ataxia, Blepharospasm, Increased circulating ferritin concentration, Decreased serum... OMIM:604290
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Pyruvate Dehydrogenase E1-Beta Deficiency
Decreased body weight, Ataxia, Intrauterine growth retardation, Periventricular cysts, Corticospi... ORPHA:255138
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Tremor, Hyperlipidemia, Hypert... ORPHA:247585
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Failure to thrive, Agenesis of corpus callosum, Choreoathetosis,... OMIM:618238
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Hyperpigmentation of the skin ORPHA:75563
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia OMIM:608093
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Postnatal growth retardation, Basal ganglia calcification OMIM:615361
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Ataxia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating f... OMIM:603553
Microcephaly 10, Primary, Autosomal Recessive
Small for gestational age, Primary microcephaly, Cerebral atrophy, Simplified gyral pattern, Intr... OMIM:615095
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia ORPHA:79320
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Short stature, Pachygyria, Microcephaly, Growth delay, Agenesis ... ORPHA:2512
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Decreased circulating cortisol level, Decreased circulating ... OMIM:300200
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Hyperpigmentation of the skin, Elevated transferrin... OMIM:604250
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... OMIM:262600
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentration OMIM:231100
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619466
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Microcephaly 3, Primary, Autosomal Recessive
Primary microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Short st... OMIM:604804
Dengue Fever
Hypoproteinemia ORPHA:99828
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hyperpigmentation of the skin, Ataxia, Hypoalbuminemia OMIM:617575
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hyperpigmentation of the skin, Increased serum iron OMIM:602390
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Microcephaly, Failure to thrive, Dysplastic corpus callosum OMIM:620001
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Postural tremor, Gait ataxia, Intention tremor, Action tremor, Hypoalbuminemia OMIM:254900
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Short stature, Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Dworschak-Punetha Neurodevelopmental Syndrome
Colpocephaly, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:619955
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hyperpigmentation of the skin, Elevated transferrin... OMIM:606069
Chédiak-Higashi Syndrome
Hypoproteinemia, Inability to walk, Gait disturbance, Ataxia, Spotty hyperpigmentation, Tremor, H... ORPHA:167
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Dysplastic corpus callosum, Periventricular leukomalacia, Abnormal periventricu... OMIM:616900
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Progressive microcephaly, Dysplastic corpus callosum, Hypoplasia of t... ORPHA:2524
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Failure to thrive, Agenesis of corpus callosum, Truncal ataxia, Dysmetria OMIM:250620
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Even-Plus Syndrome
Agenesis of corpus callosum, Severe short stature, Dysplastic corpus callosum OMIM:616854
Autosomal Recessive Cutis Laxa Type 2A
Primary microcephaly, Secondary microcephaly, Ataxia, Intrauterine growth retardation, Dysplastic... ORPHA:357058
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Immunodeficiency 54
Intrauterine growth retardation, Short stature, Adrenal insufficiency, Adrenocorticotropic hormon... OMIM:609981
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Failure to thrive, Dysplastic corpus callosum OMIM:604273
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71526
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Leptospirosis
Hyperproteinemia ORPHA:509
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated hepatic iron concentration, Elevated transferrin saturation, Increased circulating ferri... OMIM:615234
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Microcephaly 26, Primary, Autosomal Dominant
Simplified gyral pattern, Short stature, Dysplastic corpus callosum, Failure to thrive, Pachygyri... OMIM:619179
Aceruloplasminemia
Decreased serum iron, Torticollis, Limb ataxia, Ataxia, Blepharospasm, Decreased circulating copp... ORPHA:48818
Hypermanganesemia With Dystonia 1
Steppage gait, Hypermanganesemia, Tremor, Unconjugated hyperbilirubinemia, Increased total iron b... OMIM:613280
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Progressive microcephaly, Failure to thrive in infancy, Lateral ventricle dilatation, Dysplastic ... ORPHA:488627
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Absent septum pellucidum, Agenesis of corpus callosum OMIM:218670
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Autoimmune Polyendocrinopathy Type 2
Graves disease, Abnormality of the thyroid gland, Hypogonadism, Hashimoto thyroiditis, Hypoparath... ORPHA:3143
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Short stature, Microcephaly, Hypoplastic anterior commissure, Hy... OMIM:616975
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Short stature, Punctate periventricular T2 hyperintense f... ORPHA:309246
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Omenn Syndrome
Hypoproteinemia OMIM:603554
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... 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
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Kapur-Toriello Syndrome
Polymicrogyria, Pachygyria, Failure to thrive, Dysplastic corpus callosum ORPHA:2328
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Wolcott-Rallison Syndrome
Hyperammonemia, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Leishmaniasis
Hypoalbuminemia ORPHA:507
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Oculoskeletodental Syndrome
Short stature, Focal white matter lesions, Dysplastic corpus callosum ORPHA:557003
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Short stature OMIM:182230
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal hypoplasia, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:609734
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased serum iron OMIM:206100
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:614924
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia OMIM:617093
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism, Short stature ORPHA:869
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:307000
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Irregular hyperpigmentation, Abnormal circulating selenium concentration, D... ORPHA:89842
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Microcephaly 20, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Intrauterine growth retardation, Short stature, Sma... OMIM:617914
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Central adrenal insufficiency, Small pituitary gland, Short stature, Hypogonadot... OMIM:612079
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Adrenocortico... ORPHA:91349
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Hyperglycinemia, ... ORPHA:309854
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased transferrin saturation, Cafe-au-lait spot, Increased serum iron, Increased circulating ... ORPHA:300298
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Abetalipoproteinemia
Ataxia, Broad-based gait, Decreased LDL cholesterol concentration, Steppage gait, Hyperbilirubine... ORPHA:14
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Short stature, Primary adrenal insufficiency ORPHA:44
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... ORPHA:3453
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Adrenal insufficiency OMIM:619386
Cerebrofacioarticular Syndrome
Ataxia, Short stature, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosu... ORPHA:314679
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Tremor, Intention tremor, Hypoalbuminemia, Hypocholesterolemia, Dysmetria OMIM:212065
Microphthalmia, Syndromic 11
Agenesis of corpus callosum OMIM:614402
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hyperpigmentation of the skin, Hypopigmentation of the skin, Depigmentation/hyperpigmentation of ... ORPHA:79396
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Dysplastic corpus ca... OMIM:619103
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Ataxia, Dystonia, Hypoalbuminemia OMIM:251300
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Growth delay ORPHA:75233
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556037
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Wilson Disease
Limb dystonia, Hand tremor, Hypouricemia, Increased circulating copper concentration, Tremor, Hyp... OMIM:277900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Periventricular cysts, Lateral ventricle dilatation, Dysplastic corpus... ORPHA:544488
Trichohepatoenteric Syndrome 1
Generalized hypopigmentation, Hypermethioninemia, Cafe-au-lait spot, Increased serum iron, Abnorm... OMIM:222470
Primary Biliary Cholangitis
Hyperpigmentation of the skin, Abnormal circulating lipid concentration, Conjugated hyperbilirubi... ORPHA:186
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Hy... OMIM:617872
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Decreased circulating aldosterone level, Short stature, Adre... OMIM:231550
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism OMIM:264350
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperactive renin-angiotensin system, Increased circulating renin level, Pseu... OMIM:177735
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Hyperpigmentation of the skin, Increased circulating ferritin co... ORPHA:465508
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Delayed puberty, Decreased serum testosterone con... ORPHA:90793
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556030
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Decreased circulating aldost... OMIM:240300
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulating creatine kinase... ORPHA:36234
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... OMIM:617156
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology ORPHA:43
Developmental And Epileptic Encephalopathy 49
Basal ganglia calcification, Microcephaly, Cerebral calcification, Dysplastic corpus callosum OMIM:617281
Aicardi-Goutieres Syndrome 9
Dystonia, Hypoalbuminemia OMIM:619487
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Impaired pain sensation, Polymicrogyria, Primary microcephaly, Abnormal corpus callosum morpholog... ORPHA:261552
Ane Syndrome
Delayed puberty, Adrenocorticotropin deficient adrenal insufficiency, Abnormal response to ACTH s... ORPHA:157954
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Growth delay, Increas... OMIM:610600
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:618569
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Decreased circulating hepcidin concentration, Hyper... ORPHA:101330
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Abnormal circulating adrenocorticotro... ORPHA:361
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Short stature, Growth... OMIM:218030
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Decreased prealbumin level, Hypomagnesemia, Hypocalcemia, Hypoa... ORPHA:37042
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hyperalani... OMIM:619991
Pierson Syndrome
Hypoproteinemia OMIM:609049
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Primary adrenal insufficiency ORPHA:2047
Craniopharyngioma
Delayed puberty, Hypopituitarism, Hypogonadism, Increased circulating prolactin concentration, Ce... ORPHA:54595
Distal Deletion 13Q
Short stature, Primary adrenal insufficiency ORPHA:1590
Lenz-Majewski Hyperostotic Dwarfism
Intrauterine growth retardation, Short stature, Dysplastic corpus callosum, Failure to thrive, Mi... OMIM:151050
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hyponatremia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency ORPHA:977
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Increased circulating renin level... ORPHA:427
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron ORPHA:98870
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Growth delay ORPHA:261476
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, H... ORPHA:90363
Prolactinoma
Delayed puberty, Elevated circulating growth hormone concentration, Adrenocorticotropin deficient... ORPHA:2965
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Growth delay OMIM:203400
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Central hypothyroidism, Diabet... ORPHA:98754
Panhypophysitis
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:95513
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Adenohypophysitis
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:95512
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Central hypothyroidism, Diabet... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Central hypothyroidism, Diabet... ORPHA:177904
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid co... ORPHA:2298
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Central hypothyroidism, Diabet... ORPHA:177901
Kearns-Sayre Syndrome
Diabetes mellitus, Hypoparathyroidism, Short stature, Primary adrenal insufficiency OMIM:530000
Mirage Syndrome
Adrenal hypoplasia, Intrauterine growth retardation, Short stature, Hypergonadotropic hypogonadis... OMIM:617053
Prader-Willi-Like Syndrome
Delayed puberty, Decreased circulating gonadotropin concentration, Central hypothyroidism, Diabet... ORPHA:398073
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Dominant Beta-Thalassemia
Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hypothyroidism, Adrenal ... ORPHA:231226
Zttk Syndrome
Intrauterine growth retardation, Short stature, Dysplastic corpus callosum, Failure to thrive, Ab... OMIM:617140
Sheehan Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Decreased circulating... ORPHA:91355
Beta-Thalassemia Intermedia
Hypogonadism, Diabetes mellitus, Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism ORPHA:231222
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... ORPHA:91347
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:199296
Prader-Willi Syndrome
Decreased circulating gonadotropin concentration, Hypogonadism, Central hypothyroidism, Diabetes ... ORPHA:739
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Slender build, Ataxia, Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Increased se... ORPHA:90791
Beta-Thalassemia Major
Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hypothyroidism, Adrenal ... ORPHA:231214
Marburg Hemorrhagic Fever
Hyperammonemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia,... ORPHA:99826
Prader-Willi Syndrome
Delayed puberty, Intrauterine growth retardation, Short stature, Hyperinsulinemia, Decreased resp... OMIM:176270
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Genitourinary And/Or Brain Malformation Syndrome
Colpocephaly, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Dysplastic corpus... OMIM:618820
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Intrauterine ... ORPHA:320
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... OMIM:202010
Zellweger Syndrome
Polymicrogyria, Short stature, Primary adrenal insufficiency ORPHA:912
White-Kernohan Syndrome
Obesity, Dysplastic corpus callosum OMIM:619426
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Increased circulating reni... ORPHA:289548
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
Addison Disease
Delayed puberty, Adrenal hypoplasia, Thymoma, Increased circulating ACTH level, Increased circula... ORPHA:85138
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prola... ORPHA:91350
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Impaired cortisol response to corticotropin releasing hormone stimulation test, Adrenal hyperplas... OMIM:201810
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Delayed puberty, Slender build, Ataxia, Dysplastic corpus callosum, Failure to thrive, Hypoplasia... ORPHA:466791
Adrenomyeloneuropathy
Adrenal insufficiency, Adrenocortical abnormality, Primary adrenal insufficiency, Adrenocorticotr... ORPHA:139399
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Increased circulating reni... ORPHA:168558
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hyperthyroidism, Type II diabetes mellitus, Hypothyroidism, Primary adrenal insufficienc... OMIM:269200
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Myasthenia Gravis
Abnormality of the thymus, Hyperthyroidism, Primary adrenal insufficiency, Hashimoto thyroiditis ORPHA:589
Glycerol Kinase Deficiency
Chronic pancreatitis, Short stature, Adrenal insufficiency, Growth delay, Adrenocortical hypoplasia OMIM:307030
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Increased circulating reni... ORPHA:95409
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Simplified gyral pattern, Ischemic stroke, Int... ORPHA:500150
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Elevated circulating follicle stimulating hormone level, Primary gonadal insuffi... ORPHA:251510
Poems Syndrome
Hypogonadism, Increased circulating prolactin concentration, Diabetes mellitus, Abnormality of th... ORPHA:2905
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia, Hypoalbuminemia OMIM:270400
Pearson Syndrome
Diabetes mellitus, Hypoparathyroidism, Decreased response to growth hormone stimulation test, Adr... ORPHA:699
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Short statu... OMIM:616007
Autoimmune Polyendocrinopathy Type 3
Graves disease, Thymoma, Hashimoto thyroiditis, Xerostomia, Hypergonadotropic hypogonadism, Centr... ORPHA:227982
Carney Triad
Pheochromocytoma, Adrenal overactivity, Adrenocortical adenoma, Paraganglioma ORPHA:139411
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Increased circulating ACTH level, Increased circulating cortisol level, Decr... ORPHA:786
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... ORPHA:90794
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Autoimmune Polyendocrinopathy Type 4
Graves disease, Thymoma, Hashimoto thyroiditis, Xerostomia, Hypergonadotropic hypogonadism, Centr... ORPHA:227990
Syndromic Diarrhea
Abnormality of iron homeostasis, Cafe-au-lait spot, Generalized hypopigmentation ORPHA:84064
Witteveen-Kolk Syndrome
Small for gestational age, Intrauterine growth retardation, Short stature, Dysplastic corpus call... OMIM:613406
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Hyperthyroi... ORPHA:488632
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
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, Hyperbilirubinemia, Elevated circulating creatinine concentration,... OMIM:619534
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Hypothyroidism, Postnatal growth retardati... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Postnatal growth retardati... ORPHA:363958
Crimean-Congo Hemorrhagic Fever
Orchitis, Inappropriate antidiuretic hormone secretion, Parotitis, Acute pancreatitis, Adrenal in... ORPHA:99827
Pallister-Hall Syndrome
Hypopituitarism, Adrenal hypoplasia, Precocious puberty, Central adrenal insufficiency, Intrauter... ORPHA:672
Microphthalmia, Syndromic 2
Adrenal insufficiency, Short stature, Hypothyroidism OMIM:300166
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Increased circulating ACTH level, Ele... OMIM:201750
Orofaciodigital Syndrome Type 4
Intrauterine growth retardation, Severe short stature, Primary adrenal insufficiency, Growth delay ORPHA:2753
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency 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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