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Gene: Apmap MGI:1919131

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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
increased total body fat amount Apmapem1(IMPC)J HOM Late adult 3.20×10-05
increased circulating alanine transaminase level Apmapem1(IMPC)J HOM Late adult 2.28×10-07
abnormal lens morphology Apmapem1(IMPC)J HOM   Late adult 2.37×10-07
abnormal startle reflex Apmapem1(IMPC)J HOM Late adult 8.96×10-05
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
abnormal vibrissa morphology Apmapem1(IMPC)J HOM Late adult 9.67×10-07
increased circulating phosphate level Apmapem1(IMPC)J HOM Late adult 2.31×10-07
abnormal mouth morphology Apmapem1(IMPC)J HOM Late adult 2.49×10-05
increased circulating HDL cholesterol level Apmapem1(IMPC)J HOM Late adult 7.44×10-07
decreased grip strength Apmapem1(IMPC)J HOM Late adult 8.36×10-06

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Forepaw

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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Auditory Brain Stem Response

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

7 Images

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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
Cognitive impairment, Dementia OMIM:618564
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Polyphagia, Type II diabetes mellitus ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Cataract OMIM:146200
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia ORPHA:94090
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... ORPHA:276580
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of su... ORPHA:435660
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoket... ORPHA:276575
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:36913
Lipodystrophy, Familial Partial, Type 5
Decreased serum leptin, Increased C-peptide level, Lipodystrophy, Decreased adiponectin level, Di... OMIM:615238
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adiponectin level,... ORPHA:79085
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia,... ORPHA:276556
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity OMIM:603233
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Enamel hypoplasia, Hypocalcemic tetany, Conjunctivitis, Cata... ORPHA:94089
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Enamel hypoplasia, Obesity, Hypocalcemic tetany, Cataract, Hyperphosphatemia OMIM:612462
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Hyperinsulinemia, Polyphagia, Glucose intolerance ORPHA:369873
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:144300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Decrea... ORPHA:435651
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity, Hypocalcemic tetany, Cataract, Hyperphosphatemia OMIM:103580
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia OMIM:620195
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia, Polyphagia OMIM:617885
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Polyphagia, Primary hyperparathyroidism, Pituita... ORPHA:97279
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Hypogonadism OMIM:614962
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Hypophosphatemia, Cataract, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Calciphylaxis
Cellulitis, Hyperphosphatemia ORPHA:280062
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sanjad-Sakati Syndrome
Astigmatism, Hypocalcemia, Abnormal dental enamel morphology, Corneal opacity, Hyperphosphatemia ORPHA:2323
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Hirsutism, Reduced subcutaneous ad... OMIM:612526
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hypocalcemia, Developmental cataract, Hyperphosphatemia, Small for ge... OMIM:127000
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Type II di... ORPHA:254516
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Conjunctival whitish salt-like deposits, Enamel hypoplasia, Hypercalcemia, Hyperphosp... OMIM:211900
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Enamel hypoplasia, Obesity, Hypocalcemic tetany,... ORPHA:79444
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Neuroleptic Malignant Syndrome
Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Tremor, Elevated circulating creati... ORPHA:94093
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Band keratopathy, Choreoathetosis, Enamel hypopl... ORPHA:79443
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive OMIM:615863
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Failure to thrive, Hyperphosphatemia, Macular scar OMIM:239000
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cham... OMIM:221900
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Conjugated... OMIM:619868
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous adipose tissue, Lipody... OMIM:608594
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous adipose tissue, Elevat... OMIM:269700
Autosomal Dominant Hypocalcemia
Writer's cramp, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Alopecia ORPHA:428
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides, Small for gestational age OMIM:101800
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:614025
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Umbilical hernia OMIM:300555
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Increased adipose tissue around the ne... ORPHA:280365
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Chorioretinal atrophy, Microcornea, P... OMIM:612109
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Failure to thrive, Camptodactyly of finger, Cataract, Small for gest... ORPHA:1617
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Hypothyroidism, Polyphagia, Aggressive behavior ORPHA:261229
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Schaaf-Yang Syndrome
Polyphagia, Impulsivity, Camptodactyly, Skin-picking, Flexion contracture, Hypogonadism, Arthrogr... OMIM:615547
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante... ORPHA:209959
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
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, Developmental cataract, Elevated circulating creatine kinase concentration, ... OMIM:613154
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Polyphagia, Hypergo... OMIM:606407
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Failure to thrive, Cataract, Nuclear ... ORPHA:79237
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism OMIM:617119
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Developmental cataract, Hypocalcemic tetany ORPHA:93325
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Hypomagnesemia 3, Renal
Amelogenesis imperfecta, Hypocalcemic seizures, Astigmatism, Increased circulating beta-C-termina... OMIM:248250
Huntington Disease
Agitation, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia, Choking episodes, Addicti... ORPHA:399
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Myopathy, Tubular Aggregate, 1
Flexion contracture, Joint contracture, Abnormal pupil morphology, Elevated circulating creatine ... OMIM:160565
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Polyphagia OMIM:615986
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Intermediate Uveitis
Band keratopathy, Anterior uveitis, Cataract, Macular scar, Posterior synechiae of the anterior c... ORPHA:279914
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Aggressive behavior OMIM:616521
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Delayed puberty, Decreased circulating inhi... ORPHA:98793
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Anterior synechiae of the anterior ... ORPHA:3214
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Delayed puberty, Decreased circulating inhi... ORPHA:177904
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obsessive-compulsive trait, Abnormal temper tantrums, Delayed puberty, Decreased circulating inhi... ORPHA:177901
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Head tremor, Dystonia, Elevated circulating a... ORPHA:64753
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Abnormal temper tantrums, Decreased circulating inhibin B concentration, Decreas... ORPHA:98754
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose ti... ORPHA:2457
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber,... OMIM:614195
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Cystinosis
Failure to thrive, Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Ataxia-Oculomotor Apraxia 4
Obesity, Dystonia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperch... OMIM:616267
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Idiopathic Panuveitis
Cataract, Conjunctival hyperemia, Posterior synechiae of the anterior chamber, Choroidal neovascu... ORPHA:280921
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Inappropriate laughter, Polyphagia ORPHA:411515
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Weight loss, Hypoalbuminemia ORPHA:398063
Traboulsi Syndrome
Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chamber, Cataract, Spo... OMIM:601552
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Elevated circulating creatine kinase concentration, Dystonia, Hypoalbuminemia, Hyperchole... OMIM:208920
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Chondrocalcinosis ORPHA:99879
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Hypothalamic luteinizing hor... ORPHA:398069
Neovascular Glaucoma
Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere... ORPHA:94058
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Abnormal adipose tissue morphology, Alopecia ORPHA:93160
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Loss ... OMIM:151660
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia ORPHA:171829
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hirsutism, Action tremor, Obesity, Hypercholesterolemia ORPHA:77296
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Low posterior hairline, Failure to thrive, Increased C-peptide level, Low a... ORPHA:528
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Central hypothyr... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Polyphagia, Overfriendliness OMIM:620439
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Abnormal ci... ORPHA:552
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Decreased body weight, Hyperphosphat... ORPHA:340
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Pediatric-Onset Graves Disease
Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Hyperactivity,... ORPHA:525731
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Polyphagia, Pituitary adenoma, ... OMIM:300942
Temple Syndrome
Hypertriglyceridemia, Truncal obesity, Obesity, Flexion contracture, Overweight, Hypercholesterol... OMIM:616222
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Iris nevus, ... ORPHA:91500
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums OMIM:300804
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Failure to thrive, Hypophosphatemia OMIM:600081
Hyperekplexia 2
Hiatus hernia, Astigmatism, Exaggerated startle response OMIM:614619
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypocalcemia, Failure to thrive, Enamel hypoplasia, Hypophosphatemia OMIM:264700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Failure to thrive, Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophos... OMIM:241530
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Enamel hypoplasia, Failure to thrive, Hypophosphatemia, Alopecia universalis OMIM:277440
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Alport Syndrome 3A, Autosomal Dominant
Anterior polar cataract, Lenticonus, Hypophosphatemia, Azotemia OMIM:104200
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Multiple lipomas, Chondrocalcinosis OMIM:600740
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Failure to thrive, Corneal crystals, Hypop... ORPHA:411634
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Sympathetic Ophthalmia
Posterior uveitis, Anterior chamber cells, Poliosis, Corneal keratic precipitates, Cataract, Post... ORPHA:79098
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris,... OMIM:249310
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Short Syndrome
Abnormal anterior chamber morphology, Inguinal hernia, Abnormal dental enamel morphology, Corneal... ORPHA:3163
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ... ORPHA:2479
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Hereditary Fructose Intolerance
Cataract, Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Decrea... ORPHA:247585
Infantile Nephropathic Cystinosis
Hypokalemia, Failure to thrive, Corneal crystals, Hypophosphatemia, Abnormal blood ion concentrat... ORPHA:411629
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Angelman Syndrome
Precocious puberty in females, Tongue thrusting, Hyperactivity, Recurrent hand flapping, Polyphag... ORPHA:72
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Man1B1-Cdg
Polyphagia ORPHA:397941
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia, Enamel hy... OMIM:307800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age, Hypophosphatemia OMIM:616026
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia, Thick hair ORPHA:263501
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... OMIM:131100
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Central hypothyroidism, Type I diabetes mellitus, Elevated hemoglo... OMIM:616113
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Polypha... OMIM:176270
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Chorioretinal atrophy, Posterior synechiae of the anteri... ORPHA:364055
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... OMIM:614736
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia, Synophrys OMIM:182290
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Hypercalcemia, Hypophosphatemia, Knee flexion contracture OMIM:156400
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Inguinal hernia, Abnormal dental enamel morphology, Corneal opacity, Sparse scalp ha... ORPHA:534
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Corneal arcus, Increa... ORPHA:412
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia, Keratoconus, Corneal dystrophy, Corneal guttata, Ectopia pupillae OMIM:609141
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Polyphagia ORPHA:251004
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Failure to thrive, Hypophosphatemia ORPHA:2088
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Self-injurious behavior, Bruxism, Ag... OMIM:156200
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... OMIM:614098
Atypical Werner Syndrome
Lipoatrophy, Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Failure to thrive, Enamel hypoplasia, Hypophosphatemia ORPHA:289157
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Tremor, Episodic hypokalemia, Obesity, Hypomagnesemia, ... ORPHA:79102
Smith-Magenis Syndrome
Hypertriglyceridemia, Microcornea, Synophrys, Obesity, Failure to thrive in infancy, Hypercholest... ORPHA:819
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Increa... OMIM:248370
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe... ORPHA:293987
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Overweight, Hypercholesterolemia, Thick hair ORPHA:401923
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality OMIM:607485
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Megalocornea, Elevated circulating creatine kinase concentration, Ca... ORPHA:370959
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism, Polyphagia ORPHA:95427
Cystinosis, Nephropathic
Recurrent corneal erosions, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, D... OMIM:219800
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity ORPHA:96184
Sitosterolemia 1
Corneal arcus, Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin le... OMIM:210250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Flexion contracture, Elevated circulating creatine kinase concentration, Exaggerated st... OMIM:253800
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Dystonia, Hypercholes... OMIM:277460
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Decreased serum leptin, Flexion contracture OMIM:614008
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Weaver Syndrome
Inguinal hernia, Polyphagia, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:277590
Rett Syndrome
Agitation, Stereotypical hand wringing, Motor stereotypy, Increased serum leptin, Bruxism ORPHA:778
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior OMIM:612469
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Lipoma, Hypercalcemia, Renal hypophosphatemia, Chondrocal... ORPHA:405
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Inguinal hernia, Compulsive behaviors, Polyp... ORPHA:404448
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Polyphagia, Collectionism, Motor... ORPHA:96121
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Polyphagia, Restlessness, Aggressive behavior ORPHA:251028
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis... ORPHA:263479
Pearson Syndrome
Steatorrhea, Hypokalemia, Hypocalcemia, Corneal stromal edema, Hyperalaninemia, Hypomagnesemia, H... ORPHA:699
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... OMIM:615812
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:616881
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity ORPHA:209902
Dent Disease
Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Dent Disease 1
Hypophosphatemia OMIM:300009
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Raine Syndrome
Highly arched eyebrow, Enamel hypoplasia, Arthrogryposis multiplex congenita, Hypophosphatemia OMIM:259775
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Parathyroid Carcinoma
Lipoma, Hypercalcemia, Hypophosphatemia, Weight loss, Chondrocalcinosis ORPHA:143
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Mccune-Albright Syndrome
Hypophosphatemia, Primary hypercortisolism, Increased circulating cortisol level ORPHA:562
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Exaggerated startle response, Long eyelashes, Hip contracture, Flexion... OMIM:617301
Opsismodysplasia
Hypophosphatemia OMIM:258480
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, 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, Tremor, Exaggerated startle response, Dystonia, Laryngeal dy... ORPHA:845
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia, Chondrocalcinosis, Lipoma ORPHA:99880
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia, Elevated circulating creatine ... ORPHA:79240
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Increased body weight, Elevated circulating creatine kinase concentration, ... ORPHA:264580
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Premature graying of hair, Lipoatrophy, Absent eyelashes, Absent eyebrow, S... ORPHA:363618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Hyperactivity, Polyphagia, Compulsive beha... OMIM:615873
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Dense posterior cortical cataract, Elevated circulating creatine kinase concentra... OMIM:309000
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Failure to thrive, Neonatal hyperbilirubinemia,... ORPHA:90674
Plaa-Associated Neurodevelopmental Disorder
Hirsutism, Exaggerated startle response, Failure to thrive, Dystonia, Contractures of the large j... ORPHA:521426
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Alagille Syndrome 1
Hypertriglyceridemia, Abnormal anterior chamber morphology, Band keratopathy, Chorioretinal atrop... OMIM:118450
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Abnormality of hair texture, Tremor, Hypophosphatemia ORPHA:667
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Asparagine Synthetase Deficiency
Failure to thrive, Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Bardet-Biedl Syndrome 20
Obesity, Astigmatism, Hypercholesterolemia OMIM:619471
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia OMIM:610644
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Congenital diaphragmatic hernia ORPHA:250999
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Dystonia, Exaggerated startle response OMIM:620423
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Polyphagia, Fixated interests, Motor stereotypy, Umbilical hernia, Att... OMIM:620330
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Failure to thrive, Hypophosphatemia OMIM:229600
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Hyperproteinemia... ORPHA:90041
X-Linked Hypophosphatemia
Cellulitis, Odontodysplasia, Enthesitis, Hypophosphatemia ORPHA:89936
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Hirsutism, Exaggerated startle response, Contractures of the large joints OMIM:617527
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia, Knee flexion contracture OMIM:620454
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Hypoproteinemia, Microcoria, Hypoplasia of ... OMIM:609049
Late-Onset Retinal Degeneration
Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,... ORPHA:67042
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Hutchinson-Gilford Progeria Syndrome
Pubertal developmental failure in females, Decreased serum leptin, Delayed menarche, Female hypog... ORPHA:740
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Cachexia, Hyponatremia, Failure to ... ORPHA:275761
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Oculodentodigital Dysplasia
Brittle hair, Slow-growing hair, Abnormality iris morphology, Microcornea, Abnormal dental enamel... ORPHA:2710
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Gm1 Gangliosidosis Type 1
Hirsutism, Abnormal odontoid tissue morphology, Exaggerated startle response ORPHA:79255
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets, Enthesitis ORPHA:289176
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
1P36 Deletion Syndrome
Polyphagia, Hypothyroidism, Camptodactyly of finger, Dysphagia, Motor stereotypy, Hypogonadism, S... ORPHA:1606
Collagenoma, Familial Cutaneous
Collagenoma, Congenital posterior occipital alopecia, Iris atrophy OMIM:115250
Developmental And Epileptic Encephalopathy 49
Thick eyebrow, Exaggerated startle response, Long eyelashes OMIM:617281
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Camptodactyly, Congenital hypothyroidism, Oppositional defiant disorder, Camptodactyl... OMIM:607872
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Sandhoff Disease
Exaggerated startle response OMIM:268800
Immunodeficiency 47
Failure to thrive, Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Failure to thrive, Hypercholest... ORPHA:79259
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... ORPHA:64
Steinert Myotonic Dystrophy
Posterior subcapsular cataract, Astigmatism, Hypercholesterolemia, Early balding, Alopecia 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
High anterior hairline, Exaggerated startle response, Uterine prolapse, Dystonia, Decreased circu... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, Exaggerated startle response OMIM:618367
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Hypoalbumi... OMIM:619534
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia 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

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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

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