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Gene: Manf MGI:1922090

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mesencephalic astrocyte-derived neurotrophic factor
Synonyms:
Armet,  3230402M22Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Manf 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 Manf by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, In... OMIM:613370
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpu... OMIM:604213
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growt... OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300067
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... ORPHA:171706
Lissencephaly 3
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... OMIM:611603
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Short stature, Polyphagia, Hyperglycemia, Obesity ORPHA:329249
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia OMIM:222100
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71526
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellit... OMIM:604367
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Donohue Syndrome
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Adipose tissue loss, Postprandial hypergl... OMIM:246200
Band Heterotopia
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... OMIM:600348
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Hereditary Central Diabetes Insipidus
Weight loss, Diabetes insipidus, Growth delay, Polydipsia ORPHA:30925
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Short stature, Diabetic ketoacidosis, Small for gestational... OMIM:262190
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Failure to thrive, Hyperinsulin... OMIM:606762
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital encephalocele ORPHA:352682
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Short stature, Impaired g... ORPHA:769
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Intrauteri... OMIM:606176
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitati... ORPHA:276608
Pediatric-Onset Graves Disease
Hyperhidrosis, Hyperactivity, Jaundice, Increased circulating T4 concentration, Thyrotoxicosis wi... ORPHA:525731
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... OMIM:151660
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... ORPHA:79084
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Failure to thrive in infancy, Pos... OMIM:232700
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia OMIM:615986
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Cystinosis
Hypothyroidism, Short stature, Type I diabetes mellitus, Failure to thrive, Delayed puberty, Port... ORPHA:213
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... OMIM:615710
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypogonadism, Short stature, Hypoglycemia, Postnatal growth retardation OMIM:616113
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young OMIM:609812
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitu... OMIM:609069
Renal Glucosuria
Glycosuria, Polyphagia, Polydipsia OMIM:233100
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Septo-Optic Dysplasia Spectrum
Diabetes insipidus, Hypohidrosis, Anterior pituitary hypoplasia, Short stature, Maternal diabetes... ORPHA:3157
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Loss of glute... ORPHA:280356
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Essential Fructosuria
Hyperglycemia ORPHA:2056
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Moderate postnatal growth retardation, Hyperglycemia, Abnormal or... ORPHA:69076
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276556
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... ORPHA:101030
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:2298
Short Syndrome
Lipoatrophy, Birth length less than 3rd percentile, Small for gestational age, Insulin resistance... OMIM:269880
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Central Diabetes Insipidus
Weight loss, Failure to thrive, Polydipsia, Diabetes insipidus ORPHA:178029
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Impaired glucose toleranc... OMIM:248370
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity, Intrauterine growth retardation OMIM:619737
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Short stature, Abnormality of circulating cortisol level... ORPHA:320
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Decreased adipose tissue around neck, Loss of facial adipo... OMIM:608612
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Lissencephaly 5
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Cryptorchidism, Hyperglycem... OMIM:175700
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... ORPHA:251274
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia ORPHA:2089
Panhypophysitis
Abnormal size of pituitary gland, Increased circulating prolactin concentration, Gonadotropin def... ORPHA:95513
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Lower-limb joint contracture, Neonatal insulin-dependent diabetes mellitus... ORPHA:99885
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Short stature, Hepatitis, Arthrogryposis multiplex congenita, Inguinal herni... ORPHA:440713
Insulinoma
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... ORPHA:97279
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Shor... ORPHA:1227
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria ORPHA:2512
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Polydipsia, Adrenal hyperplasia OMIM:613677
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... ORPHA:254516
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology,... ORPHA:93111
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... ORPHA:2088
Whipple Disease
Hypothyroidism, Cachexia, Insulin resistance, Hepatomegaly, Splenomegaly, Polydipsia ORPHA:3452
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Chondrocalcinosis, Weight loss, Thyroid carcinoma, Abnormality of the ... ORPHA:143
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible p... ORPHA:369929
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Short stature, Polydipsia, Diabetes insipidus OMIM:304800
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial... OMIM:616212
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Short stature, Nephrogenic diabetes insipidus, Polydipsia OMIM:125800
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Elevated circulating parathyroid hormone level, Hepatomegaly, Primary hyperpar... OMIM:239200
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Diabetes me... ORPHA:465508
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Short stature, Attention deficit hyperactivity disorder, Polyphagia, Obesity, G... ORPHA:369873
Familial Cold Urticaria
Hyperhidrosis, Polydipsia ORPHA:47045
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed p... OMIM:616033
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Polydip... ORPHA:231580
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Chondrocalcinosis, Parathyroid adenoma, Thyroid carcinoma, Abnormality... ORPHA:99880
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus, Polydipsia ORPHA:95626
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly, Co... OMIM:615219
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Short stature, Keloids, Decreased testicular size, Type II diabetes mellitus, P... ORPHA:3085
Gitelman Syndrome
Hyperhidrosis, Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of... ORPHA:358
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Recurrent hypogl... ORPHA:2126
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... OMIM:615925
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Partial agenesis of the corpus callosum, Periventricular heterotopia OMIM:616171
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Large for gestational age,... ORPHA:263455
Nephronophthisis 11
Hepatic fibrosis, Growth delay, Polydipsia OMIM:613550
Wolfram Syndrome
Diabetes insipidus, Hypogonadism, Male hypogonadism, Diabetes mellitus, Delayed puberty, Abnormal... ORPHA:3463
Nephrogenic Diabetes Insipidus
Short stature, Failure to thrive, Growth delay, Nephrogenic diabetes insipidus, Polydipsia ORPHA:223
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Short stature, Decreased serum insulin-like growth factor 1... OMIM:608747
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen... OMIM:207950
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia, Growth delay OMIM:615453
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Cirrhosis, Hyperactivity, Reduced intraabdominal adipose tissue, Reduced subcut... ORPHA:363400
Ochoa Syndrome
Polydipsia, Cryptorchidism ORPHA:2704
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Hypoglycemia, Bile duct proliferation, Growth dela... OMIM:613027
Beta-Ketothiolase Deficiency
Oral aversion, Weight loss, Agitation, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Perlman Syndrome
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... ORPHA:2849
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Cystinosis, Nephropathic
Hypohidrosis, Weight loss, Short stature, Glycosuria, Male hypogonadism, Diabetes mellitus, Delay... OMIM:219800
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperi... ORPHA:35878
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypothyroidism, Alcoholism, Hypopituitarism ORPHA:90065
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
East Syndrome
Salt craving, Hyperaldosteronism, Increased circulating renin level, Polydipsia ORPHA:199343
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Polydipsia OMIM:615994
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele OMIM:164180
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Microlis... ORPHA:89844
Hemimegalencephaly
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short stature, Hypogonadism, Small for gestational age, Insulin resistance, Failur... ORPHA:73272
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Patent ductus arteriosus, Glycosuria,... OMIM:600001
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Enlarged ova... ORPHA:508
Gitelman Syndrome
Increased circulating renin level, Failure to thrive, Delayed puberty, Growth delay, Salt craving... OMIM:263800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... ORPHA:293987
Helix Syndrome
Hypohidrosis, Anhidrosis, Hyperparathyroidism, Xerostomia, Polydipsia OMIM:617671
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Short stature, Increased circulating renin level, Salt craving, Polydipsia OMIM:612780
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Type II diabetes mellitus, Atypical s... ORPHA:791
Mandibuloacral Dysplasia
Hyperinsulinemia, Contractures of the large joints, Increased subcutaneous truncal adipose tissue... ORPHA:2457
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Short stature, Postnatal growth retardation OMIM:619489
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Polycyst... OMIM:615363
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration ORPHA:65
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Glycosuria, Failure to thrive, Growth delay, Polydipsia ORPHA:411629
Senior-Boichis Syndrome
Hepatic fibrosis, Cirrhosis, Malformation of the hepatic ductal plate, Agitation, Hepatosplenomeg... ORPHA:84081
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... ORPHA:731
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly, Short stature ORPHA:66518
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... OMIM:618160
Nephronophthisis 4
Growth delay, Polydipsia OMIM:606966
Nephronophthisis 3
Hepatic fibrosis, Polydipsia OMIM:604387
Pancreatic Agenesis 1
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreati... OMIM:260370
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity OMIM:617885
Toxic Epidermal Necrolysis
Weight loss, Pancreatitis, Polydipsia, Dysphagia ORPHA:537
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Adipose tissue lo... ORPHA:528
X-Linked Acrogigantism
Enlarged pituitary gland, Hyperhidrosis, Increased circulating prolactin concentration, Diabetes ... ORPHA:300373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Agyria, Hydrocephalus, Lissencep... OMIM:614643
Erdheim-Chester Disease
Hyperhidrosis, Diabetes insipidus, Retroperitoneal fibrosis, Weight loss, Hypogonadotropic hypogo... ORPHA:35687
Nephronophthisis 1
Growth delay, Polydipsia OMIM:256100
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:899
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... ORPHA:79237
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Short stature, Glycosuria, Mild postnatal growth retardation, Failure ... ORPHA:47159
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Encephalocele, Abnormality of neuronal migration ORPHA:93274
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Atypical Werner Syndrome
Hyperinsulinemia, Decreased body weight, Abnormal testis morphology, Short stature, Glycosuria, T... ORPHA:79474
Juvenile Nephropathic Cystinosis
Hypothyroidism, Glycosuria, Failure to thrive, Growth delay, Polydipsia ORPHA:411634
Cole Disease
Hyperglycemia OMIM:615522
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Short stature, Decreased circul... OMIM:613986
Arima Syndrome
Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Growth delay, Hepatomegaly, Polydipsia OMIM:243910
Teratoma, Pineal
Polydipsia OMIM:273120
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Abdominal obesity, Truncal obesity OMIM:615812
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... ORPHA:79086
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Occipital encephalocele, Agenesis ... ORPHA:370959
Renal Hypoplasia
Small for gestational age, Polydipsia ORPHA:93101
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Polydipsia ORPHA:2260
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Growth delay, Hepatomegaly, Hyperglycemia ORPHA:3008
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:35107
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Hypomagnesemia 3, Renal
Failure to thrive, Elevated circulating parathyroid hormone level, Polydipsia OMIM:248250
Bartter Syndrome, Type 2, Antenatal
Hyperaldosteronism, Hyperactive renin-angiotensin system, Short stature, Small for gestational ag... OMIM:241200
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria ORPHA:255138
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... ORPHA:79319
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Failure to... OMIM:124000
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Brain-Lung-Thyroid Syndrome
Hyperactivity, Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:209905
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... ORPHA:2211
Distal Renal Tubular Acidosis
Failure to thrive, Short stature, Growth delay, Polydipsia ORPHA:18
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... ORPHA:157
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic fibrosis, Short stature, Achilles tendon contracture, Hepatic steatosis, ... OMIM:616263
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Dend Syndrome
Hyperglycemia ORPHA:79134
Scorpion Envenomation
Hyperhidrosis, Glycosuria, Acute pancreatitis, Hyperglycemia, Restlessness ORPHA:466677
Joubert Syndrome
Hydrocephalus, Encephalocele, Abnormality of neuronal migration, Polymicrogyria ORPHA:475
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hyperaldosteronism, Polydipsia OMIM:602522
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Insulin resistance, Hepatic steatosis, Failure to thrive, ... OMIM:613327
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia, Aqueductal stenosis, Hydrocephalus, Alobar ... OMIM:619895
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration ORPHA:2481
Thyrotoxic Periodic Paralysis
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... ORPHA:79102
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Patent ductus arteriosus, Hypothyroidism, Decreased response to growth hormone stimulation test, ... ORPHA:444077
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele, Abnormality of neuronal migration ORPHA:2318
Galloway-Mowat Syndrome
Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria ORPHA:2065
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Small for gestational age, Failure to thrive, Hypoglycemia, Ing... OMIM:220111
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia, Colpocephaly OMIM:619833
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... ORPHA:228308
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly OMIM:602579
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria OMIM:619775
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... OMIM:176270
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macrogyria, Lissence... ORPHA:2671
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
3C Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618476
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly OMIM:617822
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria OMIM:608836
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Type II lissenc... OMIM:615287
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr... ORPHA:75857
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum ORPHA:314679
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia, Agenesis of corpus c... OMIM:603671
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly, Dysplastic corpus callosum, Agenesis ... OMIM:618820
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Aicardi Syndrome
Gray matter heterotopia, Lateral ventricle dilatation, Spina bifida, Partial agenesis of the corp... OMIM:304050
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Lobar holoprosencephaly, Pa... ORPHA:468631
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... OMIM:601390
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hydrocephalus OMIM:305450
Orofaciodigital Syndrome I
Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus, Agenesis of... OMIM:311200
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, Glucose intoleran... ORPHA:99413
Turner Syndrome
Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, Glucose intoleran... ORPHA:881
Mosaic Monosomy X
Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, Glucose intoleran... ORPHA:99228
Monosomy X
Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, Glucose intoleran... ORPHA:99226
Holoprosencephaly
Spinal dysraphism, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencep... ORPHA:2162
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Pagod Syndrome
Meningocele, Encephalocele, Abnormality of neuronal migration, Spina bifida ORPHA:991
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Severe hydroce... OMIM:236680
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Colpocephaly, Abnormal cortical gyration, Lateral ventricle dilatation, ... OMIM:210710
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Liver Disease, Severe Congenital
Peritonitis, Portal inflammation, Hyperinsulinemic hypoglycemia, Hepatic steatosis, Hepatomegaly,... OMIM:619991
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly, Partial agenesis of the... OMIM:615948
Steinert Myotonic Dystrophy
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... ORPHA:273
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:352665
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian predominant ... ORPHA:98889
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus cal... OMIM:270400
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Alström Syndrome
Hepatosplenomegaly, Hepatic steatosis, Dorsocervical fat pad, Decreased circulating T4 concentrat... ORPHA:64
Fontaine Progeroid Syndrome
Gray matter heterotopia, Hydrocephalus, Periventricular heterotopia OMIM:612289
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Genitopatellar Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria, Colpocephaly OMIM:606170
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Pmm2-Cdg
Hyperinsulinemia, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:79318
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilatation, Polymicro... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilatation, Polymicro... ORPHA:261552
Mowat-Wilson Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Polymicrogyria ORPHA:2152

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Manf

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 Manf.

There are 16 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CDNF and MANF regulate ER stress in a tissue-specific manner. Cellular and molecular life sciences : CMLS (February 2022) Manftm1a(KOMP)Wtsi PMC8821067
MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea. Life science alliance (November 2021) Manftm1c(KOMP)Wtsi Manftm1a(KOMP)Wtsi PMC8616558
MANF is neuroprotective against ethanol-induced neurodegeneration through ameliorating ER stress. Neurobiology of disease (December 2020) Manftm1c(KOMP)Wtsi Manftm1a(KOMP)Wtsi 33296727
MANF delivery improves retinal homeostasis and cell replacement therapies in ageing mice. Experimental gerontology (February 2020) Manftm1a(KOMP)Wtsi 32119994
Deficiency of the ER-stress-regulator MANF triggers progressive outer hair cell death and hearing loss. Cell death & disease (February 2020) Manftm1a(KOMP)Wtsi PMC7005028
MANF Ablation Causes Prolonged Activation of the UPR without Neurodegeneration in the Mouse Midbrain Dopamine System. eNeuro (January 2020) Manftm1a(KOMP)Wtsi PMC7053174
Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF) Is Highly Expressed in Mouse Tissues With Metabolic Function. Frontiers in endocrinology (November 2019) Manftm1a(KOMP)Wtsi PMC6851024
Mesencephalic Astrocyte-Derived Neurotrophic Factor Is Upregulated with Therapeutic Fasting in Humans and Diet Fat Withdrawal in Obese Mice. Scientific reports (October 2019) Manf tm1a(KOMP)Wtsi PMC6778185
MANF regulates splenic macrophage differentiation in mice. Immunology letters (June 2019) Manftm1c(KOMP)Wtsi 31226359
MANF regulates metabolic and immune homeostasis in ageing and protects against liver damage. Nature metabolism (January 2019) Manftm1a(KOMP)Wtsi PMC6727652
Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis. Cell stress & chaperones (December 2018) Manftm1a(KOMP)Wtsi PMC6363614
MANF Is Required for the Postnatal Expansion and Maintenance of Pancreatic β-Cell Mass in Mice. Diabetes (October 2018) Manftm1c(KOMP)Wtsi Manftm1a(KOMP)Wtsi 30305368
MANF Is Essential for Neurite Extension and Neuronal Migration in the Developing Cortex. eNeuro (September 2017) Manftm1a(KOMP)Wtsi PMC5655607
Immune modulation by MANF promotes tissue repair and regenerative success in the retina. Science (New York, N.Y.) (July 2016) Manftm1a(KOMP)Wtsi PMC5270511
Mesencephalic Astrocyte-Derived Neurotrophic Factor as a Urine Biomarker for Endoplasmic Reticulum Stress-Related Kidney Diseases. Journal of the American Society of Nephrology : JASN (March 2016) Manftm1a(KOMP)Wtsi PMC5042655
MANF is indispensable for the proliferation and survival of pancreatic β cells. Cell reports (April 2014) Manftm1c(KOMP)Wtsi Manftm1a(KOMP)Wtsi 24726366

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MGI Allele Allele Type Produced
Manftm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Manftm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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