banner
Genes Phenotypes Help, News, Blog

Gene: Apmap MGI:1919131

Log in to follow

Gene Summary

Name:
adipocyte plasma membrane associated protein
Synonyms:
2310001A20Rik

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 startle reflex Apmapem1(IMPC)J HOM Late adult 8.96×10-05
increased circulating phosphate level Apmapem1(IMPC)J HOM Late adult 2.31×10-07
increased total body fat amount Apmapem1(IMPC)J HOM Late adult 3.20×10-05
abnormal vibrissa morphology Apmapem1(IMPC)J HOM Late adult 9.67×10-07
increased circulating alanine transaminase level Apmapem1(IMPC)J HOM Late adult 2.28×10-07
increased circulating HDL cholesterol level Apmapem1(IMPC)J HOM Late adult 7.44×10-07
decreased grip strength Apmapem1(IMPC)J HOM Late adult 8.12×10-06
abnormal lens morphology Apmapem1(IMPC)J HOM   Late adult 2.37×10-07
abnormal mouth morphology Apmapem1(IMPC)J HOM Late adult 2.49×10-05
iris synechia Apmapem1(IMPC)J HOM Late adult 1.16×10-07
decreased lean body mass Apmapem1(IMPC)J HOM Late adult 1.75×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

Images Ophthalmoscopy

4 Images

View images
X-ray

XRay Images Forepaw

7 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

7 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

7 Images

View images
X-ray

XRay Images Skull Lateral Orientation

7 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

View images

Human diseases caused by Apmap 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 Apmap by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hyperinsulinemia, C... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hyperinsulinemia, C... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94090
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Focal pancreati... ORPHA:276575
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Conjunctiviti... ORPHA:36913
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia ORPHA:329249
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoparathyroidism Type 1B
Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Enamel hypopl... ORPHA:94089
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia OMIM:612462
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Increased C-peptide level, Decreased serum leptin, Di... OMIM:615238
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Enamel hypoplasia OMIM:103580
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia OMIM:620195
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Polyphagia, Hyperinsulinemia, Insulin resistance OMIM:617885
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma, Sparse scalp hair ORPHA:2611
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Calciphylaxis
Cellulitis, Hyperphosphatemia ORPHA:280062
Sanjad-Sakati Syndrome
Hyperphosphatemia, Abnormal dental enamel morphology, Astigmatism, Hypocalcemia, Corneal opacity ORPHA:2323
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue, Hirsutism, Lipodyst... OMIM:612526
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Decreased serum leptin OMIM:614962
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Developmental cataract, Transient hypophosphatemia, Small for ge... OMIM:127000
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Conjunctival whitish salt-like deposits, Enamel hypoplasia, Calcinosis, Hyperc... OMIM:211900
Pseudohypoparathyroidism Type 1C
Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enam... ORPHA:79444
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hyperc... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, ... ORPHA:79443
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Failure to thrive, Hyperuricemia, Hydroxyprolinemia, Macular scar OMIM:239000
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... OMIM:275000
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipodystroph... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Elevated hemoglobin A1c, Type II diabetes mellitus, Reduced s... OMIM:269700
Autosomal Dominant Hypocalcemia
Alopecia, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Writer's cramp ORPHA:428
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Hyperphosphatemia, Blue irides OMIM:101800
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Dent Disease 2
Hypophosphatemia, Umbilical hernia, Elevated circulating creatine kinase concentration OMIM:300555
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... OMIM:612109
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Camptodactyly of finger, Small for gest... ORPHA:1617
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Schaaf-Yang Syndrome
Hypogonadism, Polyphagia, Skin-picking, Camptodactyly, Flexion contracture, Arthrogryposis multip... OMIM:615547
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Neonatal hypoglycemia, Hypergo... OMIM:606407
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Galactokinase Deficiency
Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Hypercholesterolemia, I... ORPHA:79237
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Posterior synechiae of the anterior chamber, Developmental cataract, Elevate... OMIM:613154
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Huntington Disease
Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcohol use, Aggressive behavior,... ORPHA:399
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Developmental cataract ORPHA:93325
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th... OMIM:248250
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Bardet-Biedl Syndrome 9
Hyperglycemia, Polyphagia, Polydipsia OMIM:615986
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture, Elevated circulating creatine ... OMIM:160565
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Macular scar, Anterior u... ORPHA:279914
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:98793
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Anterior synechiae of the anterior chamber, Hypopigmentation ... ORPHA:3214
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:177901
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:98754
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior synechiae of the anterior chamber, Band keratopathy, Ocular anterior segment dysgenesis,... OMIM:614195
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Cystinosis
Hypokalemia, Hypophosphatemia, Failure to thrive, Corneal opacity ORPHA:213
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypercholesterolemia, Familial, 2
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Dystonia, Elevated circulating alpha-fetoprotein ... OMIM:616267
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Inappropriate laughter, Hyperactivity ORPHA:411515
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... ORPHA:280365
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... OMIM:601552
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin conc... ORPHA:2298
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Hypophosphatemia, Hypercalcemia ORPHA:99879
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula... OMIM:151660
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Central hypothyroidism, Hypo... ORPHA:398069
Morgagni-Stewart-Morel Syndrome
Obesity, Action tremor, Hyperuricemia, Hirsutism, Hypercholesterolemia ORPHA:77296
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morphology ORPHA:93160
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia ORPHA:171829
Congenital Generalized Lipodystrophy
Failure to thrive, Hypertrichosis, Low anterior hairline, Low posterior hairline, Adipose tissue ... ORPHA:528
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness OMIM:620439
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Centra... ORPHA:398079
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Temple Syndrome
Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Flexion contracture, Overwe... OMIM:616222
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Cataract, Failure... ORPHA:247598
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Decreased body we... ORPHA:340
Pediatric-Onset Graves Disease
Graves disease, Polydipsia, Goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums OMIM:300804
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Hyperekplexia 2
Hiatus hernia, Astigmatism, Exaggerated startle response OMIM:614619
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Failure t... OMIM:241530
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Failure to thrive, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures OMIM:277440
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia, Lenticonus, Anterior polar cataract OMIM:104200
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Hypercalcemia OMIM:600740
Fanconi-Bickel Syndrome
Hypouricemia, Failure to thrive, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increas... OMIM:227810
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Failure to thrive, Elevated circulati... ORPHA:411634
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterio... ORPHA:79098
Neuhauser Syndrome
Megalocornea, Hypoplasia of the iris, Low anterior hairline, Iridodonesis, Hypercholesterolemia, ... OMIM:249310
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Hypercholesterolemia, Abnormal a... ORPHA:2479
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Colchicine Poisoning
Alopecia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blo... ORPHA:31824
Short Syndrome
Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Abnormal pupil... ORPHA:3163
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia, Cataract ORPHA:469
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals, Failure to thrive, Hypokalemia, Hypophosphatemia, A... ORPHA:411629
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Inappropriate laughter,... ORPHA:72
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia, Thick hair ORPHA:263501
Man1B1-Cdg
Polyphagia ORPHA:397941
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Enamel hy... OMIM:307800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age, Hypophosphatemia OMIM:616026
Prader-Willi Syndrome
Precocious puberty, Self-injurious behavior, Decreased response to growth hormone stimulation tes... OMIM:176270
Smith-Magenis Syndrome
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia, Synophrys OMIM:182290
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t... ORPHA:364055
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Failure to thrive, Exaggerated startle response OMIM:618201
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Obesity, Xanthelasma, Hypertriglyceridemia, Hypercholest... ORPHA:412
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hip contracture, Knee flexion contracture OMIM:156400
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Atypical scarring of skin, Failure to thrive, Fine hair, Umbilical hernia,... ORPHA:534
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Delayed puberty ORPHA:251004
Fanconi-Bickel Syndrome
Hypophosphatemia, Failure to thrive, Hypertriglyceridemia ORPHA:2088
Smith-Magenis Syndrome
Microcornea, Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia, S... ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... OMIM:248370
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Failure to thrive, Calcinosis OMIM:239200
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures ORPHA:289157
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Obesity, Tremor, Weight loss, Transient hypophosphatemia, H... ORPHA:79102
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Overweight, Hypercholesterolemia, Thick hair ORPHA:401923
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... ORPHA:293987
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity ORPHA:96184
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea, Elevated circulating creatine kinase concent... ORPHA:370959
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:277460
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Primary hypothyroidism ORPHA:95427
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Corneal crystals, Failure to thrive, Hypomagnesemi... OMIM:219800
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Flexion contracture, Exaggerated startle response, Elevated circulating creatine kinase... OMIM:253800
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Polyphagia, Camptodactyly OMIM:277590
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Wagro Syndrome
Compulsive behaviors, Polyphagia, Aggressive behavior, Agitation OMIM:612469
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavior, P... ORPHA:96121
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Polyphagi... ORPHA:404448
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Aggressive behavior, Self-mutilation ORPHA:251028
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Lipoma, Hypocalcemic seizures, Hyperc... ORPHA:405
Cholesteryl Ester Storage Disease
Failure to thrive, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholestero... OMIM:278000
Lipodystrophy, Familial Partial, Type 7
Cataract, Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, R... OMIM:606721
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Pearson Syndrome
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Corneal stromal edema, Hypophosphatemia, Hyp... ORPHA:699
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... OMIM:615812
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:616881
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Dent Disease
Renal hypophosphatemia, Cataract, Elevated circulating creatine kinase concentration ORPHA:1652
Dent Disease 1
Hypophosphatemia OMIM:300009
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Raine Syndrome
Highly arched eyebrow, Hypophosphatemia, Arthrogryposis multiplex congenita, Enamel hypoplasia OMIM:259775
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Parathyroid Carcinoma
Chondrocalcinosis, Hypophosphatemia, Weight loss, Lipoma, Hypercalcemia ORPHA:143
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcutaneous fat, Flexion ... OMIM:614098
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Atypical Werner Syndrome
Chondrocalcinosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Long eyelashes, Hip contracture, Exaggerated startle response, Flexion... OMIM:617301
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Mccune-Albright Syndrome
Primary hypercortisolism, Hypophosphatemia, Increased circulating cortisol level ORPHA:562
Opsismodysplasia
Hypophosphatemia OMIM:258480
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:617864
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... ORPHA:845
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Elevated circulating creatine kinase concentration, Hypercholesterolemia, ... ORPHA:79240
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Absent eyelashes, Absent eyebrow, Hypercholester... ORPHA:363618
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Increased body weight, Hyp... ORPHA:264580
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Chondrocalcinosis, Hypophosphatemia, Hypercalcemia ORPHA:99880
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Bruxism, Polyphagia, Attention deficit hyp... OMIM:615873
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... OMIM:309000
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Alagille Syndrome 1
Cataract, Microcornea, Band keratopathy, Failure to thrive, Axenfeld anomaly, Chorioretinal atrop... OMIM:118450
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Failure to thrive, Hirsutism, Exaggerated startle response, Dys... ORPHA:521426
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Nail dystrophy, Hypertriglyceridemia OMIM:610644
Gaisböck Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,... ORPHA:90041
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Hypophosphatemia, Hypocalcemia, Tremor ORPHA:667
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia, Astigmatism OMIM:619471
Rett Syndrome
Increased serum leptin, Bruxism, Stereotypical hand wringing, Motor stereotypy, Agitation ORPHA:778
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Asparagine Synthetase Deficiency
Hypoasparaginemia, Failure to thrive, Tremor, Exaggerated startle response OMIM:615574
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Failure to thrive, Increased circulating ferritin concen... ORPHA:470
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hair-pulling, Polyphagia, Attention... OMIM:620330
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Congenital diaphragmatic hernia ORPHA:250999
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response OMIM:620423
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Fructose Intolerance, Hereditary
Failure to thrive, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia, Knee flexion contracture OMIM:620454
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Contractures of the large joints, Failure to thrive, Hirsutism OMIM:617527
X-Linked Hypophosphatemia
Cellulitis, Enthesitis, Hypophosphatemia, Odontodysplasia ORPHA:89936
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... ORPHA:67042
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Lysosomal Acid Lipase Deficiency
Failure to thrive, Xanthelasma, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypert... ORPHA:275761
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology, Fine hair, Camptodactyly of finger, Umbilical... ORPHA:2710
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Exaggerated startle response, Hirsutism ORPHA:79255
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
1P36 Deletion Syndrome
Self-injurious behavior, Camptodactyly of finger, Hypogonadism, Polyphagia, Hypothyroidism, Dysph... ORPHA:1606
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets, Enthesitis ORPHA:289176
Collagenoma, Familial Cutaneous
Congenital posterior occipital alopecia, Collagenoma, Iris atrophy OMIM:115250
Developmental And Epileptic Encephalopathy 49
Long eyelashes, Thick eyebrow, Exaggerated startle response OMIM:617281
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Congenital hypothyroidism, Oppositional defiant disorder, Self-mutilatio... OMIM:607872
Sandhoff Disease
Exaggerated startle response OMIM:268800
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Failure to thrive OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyc... ORPHA:79259
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Cyanosis, Pubertal development... ORPHA:740
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Steinert Myotonic Dystrophy
Alopecia, Posterior subcapsular cataract, Astigmatism, Hypercholesterolemia, Early balding ORPHA:273
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology, Inguinal hernia, Abnormality of connective tissue ORPHA:91387
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, High anterior hairline, Uterine prolapse, Exaggerated s... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, Exaggerated startle response OMIM:618367
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul... OMIM:619534
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Apmap

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 Apmap.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The APMAP interactome reveals new modulators of APP processing and beta-amyloid production that are altered in Alzheimer's disease. Acta neuropathologica communications (January 2019) Apmaptm1a(KOMP)Wtsi PMC6354426

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Apmapem1(IMPC)J Exon Deletion Mice
Apmaptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Apmaptm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Apmaptm44207(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Apmaptm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter