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Gene: Ppp1r3a MGI:2153588

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Gene Summary

Name:
protein phosphatase 1, regulatory subunit 3A
Synonyms:
RGL,  GM

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.

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left eye

15 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of right fundus

15 Images

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Human diseases caused by Ppp1r3a 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.

The table below shows human diseases associated to Ppp1r3a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853

The table below shows human diseases predicted to be associated to Ppp1r3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Large for gestational age, Nonketotic hypoglycemia, Truncal obesity, Hy... ORPHA:293964
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Obesity, Abnormal circulating enzyme concentration or ac... ORPHA:171706
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased ... ORPHA:71529
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Myop... OMIM:615980
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Obesity, Childhood-onset truncal obesity, Hypoglycemic seizu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Obesity, Childhood-onset truncal obesity, Hypoglycemic seizu... ORPHA:71526
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Lipoatrophy, Skeletal mus... OMIM:613877
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity, Torticollis OMIM:620639
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity OMIM:617885
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Myopathy ORPHA:79087
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy... OMIM:612526
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Glucose intolerance, Lar... ORPHA:552
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Decreased muscle mass, Abdominal obesity ORPHA:631
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Lipodystrophy, Eleva... OMIM:615381
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Adipose tissue loss, Lipodystrophy, Prop... ORPHA:528
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Increased intraabdominal fat, Lipodystrophy, Insulin-resistant diabetes mellitus ORPHA:79085
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Mehmo Syndrome
Obesity, Small for gestational age, Hypoglycemia OMIM:300148
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Myopathy,... ORPHA:79083
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Hyperin... ORPHA:276608
Familial Multiple Lipomatosis
Insulin resistance, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Myopathy, Lipodystrophy, Loss of subcutaneous adipose tissue in l... ORPHA:2348
Morm Syndrome
Truncal obesity ORPHA:75858
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Elevated circulating hepatic transamin... ORPHA:94086
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Temple Syndrome
Obesity, Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia ORPHA:254516
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Temple Syndrome
Maturity-onset diabetes of the young, Obesity, Truncal obesity, Flexion contracture, Overweight, ... OMIM:616222
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Leptin Receptor Deficiency
Obesity, Diabetes mellitus OMIM:614963
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, Small for gestational age ORPHA:73272
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Immunodeficiency 61
Obesity OMIM:300310
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Distal lower limb muscle weakness ORPHA:459033
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity, Type II diabetes mellitus ORPHA:2234
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Hepatic Veno-Occlusive Disease
Increased body weight, Jaundice, Elevated circulating hepatic transaminase concentration ORPHA:890
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Bardet-Biedl Syndrome 21
Obesity, Elevated circulating hepatic transaminase concentration, Overweight OMIM:617406
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Maturity-onset diabetes of the young ORPHA:254531
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:276580
Trisomy 5P
Obesity ORPHA:1742
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:613327
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... ORPHA:3163
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Glucose intolerance, Obesity, Impaired glucose tolerance OMIM:615630
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Type II diabetes mellitus, Small for gestational age, Diabetes mellitus OMIM:274300
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... ORPHA:69663
Biemond Syndrome Type 2
Obesity ORPHA:141333
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Macroglossia, Omphalocele, Increased body mass index OMIM:614450
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Increased adipose tissue around the neck, Increased facial adipose tissue, In... ORPHA:280365
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille... OMIM:615418
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Lower limb muscle weakness OMIM:619737
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:276575
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness OMIM:618124
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity ORPHA:96184
Spastic Paraplegia 11, Autosomal Recessive
Thenar muscle atrophy, Obesity, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:604360
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Skeletal muscle atrophy, Slender build, Type II diabetes m... ORPHA:902
Silver-Russell Syndrome
Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia, Failure to thrive in infancy, ... ORPHA:813
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Rafiq Syndrome
Obesity, Flexion contracture, Truncal obesity OMIM:614202
Congenital Myopathy 9A
Obesity, EMG: myopathic abnormalities OMIM:618822
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad, Diabetes mellitus OMIM:615830
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hyperglycemia, Abdominal obesity OMIM:615954
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:10
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus OMIM:614613
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for gestational age, Reactive hypoglycemi... ORPHA:276556
Morgagni-Stewart-Morel Syndrome
Obesity, Diabetes mellitus ORPHA:77296
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus ORPHA:66628
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Bdv Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Obesity OMIM:619326
Baralle-Macken Syndrome
Obesity OMIM:619255
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus ORPHA:179494
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia OMIM:612463
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Seckel Syndrome 10
Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl... OMIM:617253
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Large for gest... OMIM:616026
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Chung-Jansen Syndrome
Obesity OMIM:617991
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Laurence-Moon Syndrome
Obesity OMIM:245800
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Eunuchoid habitus ORPHA:91
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Intellectual Developmental Disorder, Autosomal Dominant 72
Facial hypotonia, Tall stature, Obesity OMIM:620439
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Shox-Related Short Stature
Obesity, Skeletal muscle hypertrophy ORPHA:314795
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Diabetes mellitus, Inguinal hernia, Truncal obesity OMIM:616541
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Laron Syndrome
Truncal obesity, Hypoglycemia ORPHA:633
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Clark-Baraitser Syndrome
Obesity OMIM:617752
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Wagr Syndrome
Obesity ORPHA:893
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Obesity, Glucose intolerance, Abdominal obesity, Impaired glucose tolerance OMIM:219090
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Retinitis Pigmentosa 51
Obesity OMIM:613464
Insulinoma
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Increa... ORPHA:97279
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Camptodactyly, Flexion contracture, Arthrogryposis multipl... OMIM:615547
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy, Hypomimic face ORPHA:93952
13Q12.3 Microdeletion Syndrome
Camptodactyly, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:412035
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity OMIM:601794
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Obesity OMIM:609734
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Bardet-Biedl Syndrome 1
Insulin resistance, Obesity, Left ventricular hypertrophy, Truncal obesity, Abdominal obesity, Di... OMIM:209900
15Q24 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Hernia, Small for gestational age ORPHA:94065
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Diastasis recti, Overgrowth, Omphalocele, Small for ... ORPHA:254534
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Diabe... OMIM:270450
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Urban-Rogers-Meyer Syndrome
Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity OMIM:618089
Microtriplication 11Q24.1
Obesity ORPHA:289522
Megalencephaly
Truncal obesity ORPHA:2477
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Abdominal obesity OMIM:300869
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Lower limb muscle weakness, Gluc... OMIM:606721
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Overgrowth, Large for gestational age, Inguinal hernia, Umbilical hernia OMIM:618272
Carpenter Syndrome
Obesity, Umbilical hernia ORPHA:65759
Narcolepsy Type 1
Obesity ORPHA:2073
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Obesity, Exerc... ORPHA:26793
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Facial hypotonia, Obesity, Flexion contracture OMIM:300055
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia ORPHA:284180
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypogl... ORPHA:79644
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, ... ORPHA:435651
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
48,Xxxy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:96263
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Flexion contracture of digit, Truncal obesity, Decreased mus... ORPHA:3041
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... ORPHA:125
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Failure to thrive OMIM:610543
Whipple Disease
Insulin resistance, Cachexia, Myositis ORPHA:3452
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Recurrent hypog... ORPHA:79240
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Disproportionate tall stature, Abdominal obesity OMIM:301039
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Calcinosis ORPHA:90154
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Distal lower limb amyotrophy, Abdominal obesity OMIM:300354
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Senior-Loken Syndrome 9
Obesity OMIM:616629
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Glucose intolerance, Dorsocervical fat pad, Increased body weight, Proximal amyotrophy, Abdominal... ORPHA:189427
Septo-Optic Dysplasia Spectrum
Obesity, Maternal diabetes ORPHA:3157
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Congenital-Onset Steinert Myotonic Dystrophy
Facial hypotonia, Obesity, Decreased body weight ORPHA:589821
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity OMIM:612291
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Tatton-Brown-Rahman Syndrome
Obesity, Umbilical hernia, Proportionate tall stature ORPHA:404443
Dysbetalipoproteinemia
Obesity, Diabetes mellitus, Tendon xanthomatosis ORPHA:412
Joubert Syndrome 37
Obesity OMIM:619185
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Decreased muscle mass, Fasting hypoglycemia, Small for ges... ORPHA:96182
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity ORPHA:127
Perrault Syndrome 4
Obesity, Disproportionate tall stature OMIM:615300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Failure to thri... ORPHA:264580
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Failure to thrive, Hyper... ORPHA:508
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Type I diabetes mellitus, Obesity OMIM:619269
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:261197
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Macroglossia, Large for gestational age, Umbilical hernia ORPHA:226313
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus ORPHA:401923
Peripartum Cardiomyopathy
Obesity, Diabetes mellitus, Left ventricular hypertrophy ORPHA:563
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Pseudohypoparathyroidism, Type Ic
Obesity, Enamel hypoplasia OMIM:612462
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity, Inguinal hernia, Macroglossia, Femoral hernia ORPHA:96147
19P13.12 Microdeletion Syndrome
Obesity, Arthrogryposis multiplex congenita ORPHA:254346
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
2Q37 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
Pseudohypoparathyroidism, Type Ia
Obesity, Enamel hypoplasia OMIM:103580
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Type II diabetes mellitus, Failure to thrive, Abdominal obesity ORPHA:398079
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Limb hypertonia, Lower limb hypertonia OMIM:617296
Generalized Pustular Psoriasis
Obesity, Elevated circulating hepatic transaminase concentration, Overweight ORPHA:247353
White-Sutton Syndrome
Failure to thrive, Obesity, Facial hypotonia, Congenital diaphragmatic hernia, Hypoglycemic seizures OMIM:616364
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Failure to thrive, Glucose intol... ORPHA:358
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity, Torticollis OMIM:619680
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Hyp... OMIM:203800
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity, Hepatitis ORPHA:209902
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:439822
Adiposis Dolorosa
Obesity ORPHA:36397
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, Inguinal hernia, Camptodactyly of finger ORPHA:85293
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Carpenter Syndrome 1
Joint contracture of the hand, Umbilical hernia, Obesity, Omphalocele, Camptodactyly OMIM:201000
Man1B1-Cdg
Truncal obesity ORPHA:397941
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Obesity, Elevated circulating hepatic transaminase concentration, Diabetes mellitus OMIM:614231
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity ORPHA:819
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Sotos Syndrome
Tall stature, Glucose intolerance, Increased body weight, Overgrowth, Prolonged neonatal jaundice... OMIM:117550
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Truncal obesity OMIM:219080
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Angelman Syndrome
Macroglossia, Obesity OMIM:105830
Prader-Willi Syndrome
Class III obesity, Decreased muscle mass, Failure to thrive in infancy, Hyperinsulinemia, Obesity... OMIM:176270
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Lower limb muscle weakness, Obesity, Rhabdomyolysis, Weight loss, Inc... ORPHA:79102
Rabin-Pappas Syndrome
Failure to thrive in infancy, Overgrowth, Obesity OMIM:620155
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Desbuquois Dysplasia 1
Obesity OMIM:251450
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Autosomal Recessive Spastic Paraplegia Type 11
Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle atrophy, Obesity, Overweight ORPHA:2822
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity ORPHA:251004
Kleefstra Syndrome 1
Macroglossia, Obesity OMIM:610253
Adrenocortical Carcinoma
Increased body weight, Weight loss, Diabetes mellitus ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Den Hoed-De Boer-Voisin Syndrome
Obesity, Decreased body weight, Amelogenesis imperfecta, Enamel hypoplasia, Overweight OMIM:619229
White-Sutton Syndrome
Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Ventral hernia, Facial hypotonia ORPHA:468678
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive ORPHA:98754
Achondroplasia
Obesity ORPHA:15
Kleefstra Syndrome
Hernia, Macroglossia, Obesity ORPHA:261494
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive ORPHA:98793
Cohen Syndrome
Facial hypotonia, Childhood-onset truncal obesity, Small for gestational age OMIM:216550
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive ORPHA:177904
Retinitis Pigmentosa 74
Obesity OMIM:616562
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Type II diabetes mellitus, Increased body weight, Abdominal obesity, Flexion c... ORPHA:398069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive ORPHA:177901
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Bardet-Biedl Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Skeletal muscle atro... ORPHA:110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Down Syndrome
Macroglossia, Obesity, Type II diabetes mellitus, Umbilical hernia ORPHA:870
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Obesity, Aplasia of the pectoralis major muscle, Camptodactyly of f... ORPHA:3138
Gaisböck Syndrome
Obesity, Overweight, Diabetes mellitus ORPHA:90041
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Type II diabetes mellitus, Truncal obesity, Enamel hypoplasia OMIM:210720
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Hypoglycemia, Umbilical hernia OMIM:301066
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Generalized amyotrophy, Hepatic failure, Skeletal muscle atrophy, Truncal obesity, Limb joint con... OMIM:301072
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Maturity-onset diabetes of the young, Failure to thrive... ORPHA:96149
Craniopharyngioma
Obesity, Type II diabetes mellitus ORPHA:54595
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity OMIM:610475
Steinert Myotonic Dystrophy
Insulin resistance, Abnormality of the tongue muscle, Elevated circulating hepatic transaminase c... ORPHA:273
Cushing Disease
Dorsocervical fat pad, Increased body weight, Proximal amyotrophy, Truncal obesity, Abdominal obe... ORPHA:96253
Wagro Syndrome
Obesity OMIM:612469
Bardet-Biedl Syndrome 20
Obesity, Elevated circulating hepatic transaminase concentration OMIM:619471
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Sheehan Syndrome
Obesity, Hypoglycemia ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia OMIM:614947
Webb-Dattani Syndrome
Obesity OMIM:615926
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Obesity, Inguinal hernia, Umbilical hernia OMIM:620654
Cohen Syndrome
Failure to thrive in infancy, Obesity ORPHA:193
Angelman Syndrome
Obesity ORPHA:72
Beckwith-Wiedemann Syndrome
Hypoglycemia, Rhabdomyosarcoma, Umbilical hernia, Tall stature, Obesity, Large for gestational ag... ORPHA:116
Xylt1-Cdg
Truncal obesity ORPHA:370930
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Perlman Syndrome
Large for gestational age, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic... OMIM:267000
Prader-Willi Syndrome
Diabetes mellitus, Failure to thrive, Abdominal obesity ORPHA:739
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Chops Syndrome
Obesity OMIM:616368
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low alkaline phosphatase, Obesity ORPHA:369837
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
7Q11.23 Microduplication Syndrome
Obesity, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:96121
Kallmann Syndrome
Obesity ORPHA:478
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger OMIM:619562
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Obesity, Failure to thrive ORPHA:369950
Pseudohypoparathyroidism Type 1C
Obesity, Enamel hypoplasia, Calcinosis ORPHA:79444
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Severe failure to thrive, Weight loss, Absence of subcutaneous fat ORPHA:740
Hellp Syndrome
Increased body weight, Elevated circulating hepatic transaminase concentration, Increased circula... ORPHA:244242
Xq21 Microdeletion Syndrome
Obesity, Upper limb muscle weakness, Abnormality of the Achilles tendon ORPHA:1435
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Inguinal hernia OMIM:618653
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Kabuki Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:2322
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity ORPHA:2637
Myhre Syndrome
Generalized muscle hypertrophy, Obesity, Camptodactyly, Small for gestational age, Skeletal muscl... OMIM:139210
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Obesity, Elevated circulating hepatic transaminase concentration ORPHA:293987
Turner Syndrome Due To Structural X Chromosome Anomalies
Atypical scarring of skin, Elevated circulating hepatic transaminase concentration, Failure to th... ORPHA:99413
Turner Syndrome
Atypical scarring of skin, Elevated circulating hepatic transaminase concentration, Failure to th... ORPHA:881
Mosaic Monosomy X
Atypical scarring of skin, Elevated circulating hepatic transaminase concentration, Failure to th... ORPHA:99228
Monosomy X
Atypical scarring of skin, Elevated circulating hepatic transaminase concentration, Failure to th... ORPHA:99226
Pseudohypoparathyroidism Type 1A
Obesity, Enamel hypoplasia, Calcinosis ORPHA:79443
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Obesity, Macroglossia ORPHA:444077
Helsmoortel-Van Der Aa Syndrome
Obesity, Facial palsy, Failure to thrive, Truncal obesity OMIM:615873
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Failure to thrive, Obesity, Decreased bo... OMIM:619475
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Failure to thrive, Truncal obesity OMIM:222700
Adnp Syndrome
Inguinal hernia, Truncal obesity, Umbilical hernia ORPHA:404448
White-Kernohan Syndrome
Obesity OMIM:619426
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Increased body weight, Weight loss, Proximal amyotrophy, Truncal obesity, ... ORPHA:99889
Meningioma
Obesity, Facial palsy, Upper limb muscle weakness, Lower limb muscle weakness ORPHA:2495
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Monosomy 22Q13.3
Obesity, Umbilical hernia ORPHA:48652
6Q Terminal Deletion Syndrome
Obesity, Failure to thrive ORPHA:75857
22Q11.2 Deletion Syndrome
Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, Inguinal hernia ORPHA:567
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity ORPHA:529962
Alström Syndrome
Insulin resistance, Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulati... ORPHA:64
Witteveen-Kolk Syndrome
Obesity, Type II diabetes mellitus, Congenital diaphragmatic hernia, Inguinal hernia, Contracture... OMIM:613406
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Muscle hypertrophy of the lower extremities ORPHA:1772
Williams-Beuren Syndrome
Umbilical hernia, Failure to thrive in infancy, Obesity, Glucose intolerance, Portal hypertension... OMIM:194050
Carpenter Syndrome 2
Umbilical hernia, Obesity, Knee flexion contracture, Camptodactyly, Diaphragmatic eventration OMIM:614976
Pmm2-Cdg
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... ORPHA:79318
1P36 Deletion Syndrome
Obesity, Failure to thrive, Myopathy, Camptodactyly of finger ORPHA:1606
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity OMIM:619321
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Ulnar-Mammary Syndrome
Elbow flexion contracture, Obesity, Inguinal hernia OMIM:181450
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Failure to thrive OMIM:617157
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Obesity, Keloids, Failure to thrive ORPHA:353281
Williams Syndrome
Umbilical hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, Obesity, Type ... ORPHA:904
Rubinstein-Taybi Syndrome 1
Keloids, Failure to thrive, Enamel hypoplasia, Truncal obesity, Flexion contracture, Small for ge... OMIM:180849
Primrose Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Glucose intolerance, Hip contracture, Knee flexion co... OMIM:259050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Corneal scarring, Obesity, Keloids, Failure to thrive ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Corneal scarring, Obesity, Keloids, Failure to thrive ORPHA:353277
Digeorge Syndrome
Obesity, Femoral hernia, Inguinal hernia, Umbilical hernia OMIM:188400
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly, Obesity, Camptodactyly of finger OMIM:607872
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Camptodactyly, Failure to thrive, Truncal obesity OMIM:612474
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Truncal obesity ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Macroglossia, Obesity, Lower limb hypertonia OMIM:309580
Carney Complex
Increased body weight, Tall stature, Dorsocervical fat pad, Abdominal obesity ORPHA:1359
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Ing... OMIM:601803

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 Ppp1r3a

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 Ppp1r3a.

No publications found that use IMPC mice or data for Ppp1r3a.

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
Ppp1r3aem1(IMPC)Bay Exon Deletion Mice
Ppp1r3atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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