Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left fundus

12 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

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 enzyme/coenzyme activity OMIM:125460
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
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 With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... ORPHA:293964
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal enzyme/coenzyme activity, Proximal muscle weakness in lower limbs, Fatty replacement of ... ORPHA:171706
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t... ORPHA:71529
Hyperostosis Frontalis Interna
Obesity, Elevated circulating alkaline phosphatase concentration, Diabetes mellitus OMIM:144800
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness, Lipodystrophy, Diabetes mellit... OMIM:615980
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age OMIM:601820
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizures, Incr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizures, Incr... ORPHA:71526
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Ins... OMIM:613877
Narcolepsy Type 1
Obesity ORPHA:2073
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Myopathy ORPHA:79087
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Lipodystrophy, Diabetes mellitus,... OMIM:612526
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Summitt Syndrome
Obesity OMIM:272350
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Skeletal muscle hypertrophy, Proximal muscle weakness i... ORPHA:435660
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Immunodeficiency 61
Obesity OMIM:300310
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Congenital Generalized Lipodystrophy
Failure to thrive, Hyperinsulinemia, Macroglossia, Proportionate tall stature, Skeletal muscle hy... ORPHA:528
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus ORPHA:791
Nephronophthisis 15
Obesity, Hepatic failure OMIM:614845
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Lipodystrophy, Elevated hepatic transaminase, Diabetes mellitus, Insulin res... OMIM:615381
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Mehmo Syndrome
Hypoglycemia, Obesity, Small for gestational age OMIM:300148
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Lipodystrophy, Increased intraabdominal fat, Insulin-resistant diabetes mellitus ORPHA:79085
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hypoglycemic seizures OMIM:609734
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Skeletal muscle hypertrophy, Maternal diabetes, Calf muscle pseu... ORPHA:79083
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue ORPHA:199276
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Leptin Receptor Deficiency
Obesity, Diabetes mellitus OMIM:614963
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Cellulitis, Skeletal muscle hypertrophy, Abnormality of skeletal muscle fiber size, ... ORPHA:2348
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Insulin resistance ORPHA:73272
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio, Elevated hepat... ORPHA:94086
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Truncal obesity, Obesity, Amelogenesis imperfecta OMIM:618363
Ataxia-Oculomotor Apraxia Type 4
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy ORPHA:459033
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus, Obesity, Small for gestational age ORPHA:254516
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Morm Syndrome
Truncal obesity ORPHA:75858
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Type II diabetes mellitus, Eunuchoid habitus ORPHA:2234
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Abn... ORPHA:276580
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Hepatic Veno-Occlusive Disease
Increased body weight, Jaundice, Elevated hepatic transaminase ORPHA:890
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated hepatic transaminase OMIM:617406
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Trisomy 5P
Obesity ORPHA:1742
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity ORPHA:254531
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature ORPHA:3210
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age, Type II diabetes mellitus, Diabetes mellitus OMIM:274300
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Primary Lipodystrophy
Type II diabetes mellitus, Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Insulin resis... ORPHA:90970
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Skeletal muscle hypertrophy, Muscular d... OMIM:613327
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity OMIM:600955
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Obesity, Hepatic failure, Impaired glucose tolerance OMIM:615630
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Low Phospholipid-Associated Cholelithiasis
Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase, Intrahepatic cholestasis... ORPHA:69663
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Macroglossia, Increased body mass index, Omphalocele OMIM:614450
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Biemond Syndrome Type 2
Obesity ORPHA:141333
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Large for gestational ... ORPHA:276575
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Skele... ORPHA:280365
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness OMIM:618124
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulating alkaline phosphatase concen... ORPHA:263455
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Obesity, Sk... OMIM:615418
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Lipoma ORPHA:480907
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Skeletal muscle atrophy, Lower limb muscle weakness, Thenar muscle atrophy OMIM:604360
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Obesity, Truncal obesity, Small for gestational age ORPHA:96184
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus OMIM:614613
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Lower limb muscle weakness, Hyperglycemia OMIM:619737
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Large for gestati... ORPHA:276556
Silver-Russell Syndrome
Decreased muscle mass, Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to ... ORPHA:813
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Hyperglycemia OMIM:615954
Werner Syndrome
Slender build, Type II diabetes mellitus, Lipoatrophy, Chondrocalcinosis, Lipodystrophy, Insulin ... ORPHA:902
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad, Diabetes mellitus OMIM:615830
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
EMG: myopathic abnormalities, Obesity OMIM:618822
Rafiq Syndrome
Obesity, Truncal obesity, Flexion contracture OMIM:614202
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
48,Xxyy Syndrome
Type II diabetes mellitus, Inguinal hernia, Tall stature, Obesity, Abnormal dental enamel morphology ORPHA:10
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Obesity Due To Congenital Leptin Deficiency
Obesity, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:66628
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Generalized lipodystrophy, Calf muscle pseudohypertrophy, Insulin-resistant dia... ORPHA:79086
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity OMIM:612463
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Baralle-Macken Syndrome
Obesity OMIM:619255
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity OMIM:268050
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Bdv Syndrome
Obesity, Hyperinsulinemia, Type II diabetes mellitus OMIM:619326
Morgagni-Stewart-Morel Syndrome
Obesity, Diabetes mellitus ORPHA:77296
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:179494
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Chung-Jansen Syndrome
Obesity OMIM:617991
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating alkaline phosphatase concentration, Glycosuria, Hypoglycemia, Large for gest... OMIM:616026
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Aromatase Deficiency
Type II diabetes mellitus, Eunuchoid habitus, Tall stature, Insulin resistance, Obesity ORPHA:91
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Truncal obesity, Inguinal hernia, Diabetes mellitus OMIM:616541
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Laron Syndrome
Hypoglycemia, Truncal obesity ORPHA:633
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... OMIM:262190
Shox-Related Short Stature
Obesity, Skeletal muscle hypertrophy ORPHA:314795
Wagr Syndrome
Obesity ORPHA:893
Seckel Syndrome 10
Glucose intolerance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, I... OMIM:617253
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Type II diabetes mellitus, Elevated hepatic transaminase,... ORPHA:189439
Clark-Baraitser Syndrome
Obesity OMIM:617752
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Truncal obesity, Lipodystrophy, Diabe... OMIM:270450
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Schaaf-Yang Syndrome
Flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Obesity, Failure to thriv... OMIM:615547
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Impaired glucose tolerance, Obesity, Skeletal muscle atrophy OMIM:219090
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Insulinoma
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight, Reactive hypoglycemia, No... ORPHA:97279
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Bardet-Biedl Syndrome 1
Abdominal obesity, Left ventricular hypertrophy, Truncal obesity, Diabetes mellitus, Insulin resi... OMIM:209900
Microtriplication 11Q24.1
Obesity ORPHA:289522
Urban-Rogers-Meyer Syndrome
Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Facial hypotonia, Flexion contracture, Wrist flexion contracture OMIM:300055
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Wilson Disease
Failure to thrive, Acute hepatitis, Acute hepatic failure, Proximal muscle weakness in lower limb... ORPHA:905
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Small for gestational age, Overgrowth, Large for gestational age, Umbilical hern... ORPHA:254534
Megalencephaly
Truncal obesity ORPHA:2477
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Small for gestationa... OMIM:606721
15Q24 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Small for gestational age, Hernia, Obesity ORPHA:94065
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestation... ORPHA:79644
Carpenter Syndrome
Obesity, Umbilical hernia ORPHA:65759
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Macroglossia, Diabetic ketoacido... ORPHA:769
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:284180
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:2180
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Small for gestational age, Hypoketotic hypoglycemia, Exercise-induced rhabdomyolysis, E... ORPHA:26793
Macrocephaly/Autism Syndrome
Obesity OMIM:605309
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Flexion contracture of digit, Decreased muscle mass, Truncal... ORPHA:3041
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
48,Xxxy Syndrome
Type II diabetes mellitus, Inguinal hernia, Tall stature, Obesity, Abnormal dental enamel morphology ORPHA:96263
X-Linked Non-Syndromic Intellectual Disability
Obesity, Facial palsy, Small for gestational age ORPHA:777
Whipple Disease
Insulin resistance, Cachexia, Myositis ORPHA:3452
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Calcinosis ORPHA:90154
Cidec-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Loss of gluteal subcutaneous adipose tissue, Calf muscle hypertrophy... ORPHA:435651
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Bloom Syndrome
Abdominal obesity, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Insulin res... ORPHA:125
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Senior-Loken Syndrome 9
Obesity OMIM:616629
Congenital Analbuminemia
Lipodystrophy, Obesity, Small for gestational age ORPHA:86816
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Abnormal enzyme/coenzyme activity, Ketotic hypoglycemia, Increased body weight, Limb-girdle muscl... ORPHA:79240
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Increased body weight, Dorsocervical fat pad, Proximal am... ORPHA:189427
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Truncal obesity, Small for gestational age OMIM:300957
Down Syndrome
Obesity, Macroglossia, Type II diabetes mellitus, Umbilical hernia ORPHA:870
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Macroglossia, Distal lower limb amyotrophy OMIM:300354
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity OMIM:617157
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Kennerknecht syndrome
Abdominal obesity, Omphalocele OMIM:600908
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Joubert Syndrome 8
Obesity, Prolonged neonatal jaundice OMIM:612291
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity ORPHA:127
Leprechaunism
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Failure to thrive, Hyperinsuline... ORPHA:508
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Disproportionate tall stature, Camptodactyly OMIM:301039
Dysbetalipoproteinemia
Obesity, Tendon xanthomatosis, Diabetes mellitus ORPHA:412
Joubert Syndrome 37
Obesity OMIM:619185
Septo-Optic Dysplasia Spectrum
Obesity, Maternal diabetes ORPHA:3157
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Small for gestational age, Insulin resistance, Fasting hypoglycemia, Decreased... ORPHA:96182
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Abnormal enzyme/coenzyme activity, Increased sarcoplasmic glycogen, Abnormal e... ORPHA:264580
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity OMIM:612462
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Macroglossia, Umbilical hernia, Prolonged neonatal jaundice ORPHA:226313
Alstrom Syndrome
Hyperinsulinemia, Chronic active hepatitis, Truncal obesity, Elevated hepatic transaminase, Insul... OMIM:203800
Perrault Syndrome 4
Obesity, Disproportionate tall stature OMIM:615300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity OMIM:194072
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight ORPHA:401923
Bardet-Biedl Syndrome
Obesity, Skeletal muscle atrophy ORPHA:110
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Type I diabetes mellitus, Dentinogenesis imperfecta OMIM:619269
Tatton-Brown-Rahman Syndrome
Obesity, Umbilical hernia, Proportionate tall stature ORPHA:404443
Momo Syndrome
Large for gestational age, Overgrowth, Obesity, Tall stature ORPHA:2563
Peripartum Cardiomyopathy
Obesity, Left ventricular hypertrophy, Diabetes mellitus ORPHA:563
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity OMIM:103580
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Macroglossia, Inguinal hernia, Femoral hernia, Obesity ORPHA:96147
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Obesity ORPHA:398079
Luscan-Lumish Syndrome
Obesity, Overgrowth OMIM:616831
Gitelman Syndrome
Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Diabetic ketoacidosis, Chondro... ORPHA:358
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
19P13.12 Microdeletion Syndrome
Obesity, Arthrogryposis multiplex congenita ORPHA:254346
Pde4D Haploinsufficiency Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:439822
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Limb hypertonia, Lower limb hypertonia OMIM:617296
2Q37 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
White-Sutton Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hypoglycemic seizures, Obesity, Facial hypotonia OMIM:616364
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Obesity OMIM:619680
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, Camptodactyly of finger, Inguinal hernia ORPHA:85293
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity, Hepatitis ORPHA:209902
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Man1B1-Cdg
Truncal obesity ORPHA:397941
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Obesity, Elbow flexion contracture OMIM:618493
Carpenter Syndrome 1
Joint contracture of the hand, Camptodactyly, Umbilical hernia, Omphalocele, Obesity OMIM:201000
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Angelman Syndrome
Obesity, Macroglossia OMIM:105830
Adiposis Dolorosa
Obesity ORPHA:36397
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Sotos Syndrome
Glucose intolerance, Tall stature, Overgrowth, Prolonged neonatal jaundice, Neonatal hypoglycemia... OMIM:117550
Desbuquois Dysplasia 1
Obesity OMIM:251450
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Autosomal Recessive Spastic Paraplegia Type 11
Lower limb muscle weakness, Distal amyotrophy, Generalized limb muscle atrophy, Obesity, Overweight ORPHA:2822
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Helsmoortel-Van Der Aa Syndrome
Obesity OMIM:615873
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Truncal obesity OMIM:219080
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Abnormal muscle fiber morphology, Lower limb muscle weakness, Increas... ORPHA:79102
Smith-Magenis Syndrome
Obesity, Failure to thrive in infancy ORPHA:819
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology ORPHA:251004
Kleefstra Syndrome 1
Obesity, Macroglossia OMIM:610253
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Prader-Willi Syndrome
Abdominal obesity, Hyperinsulinemia, Type II diabetes mellitus, Decreased muscle mass, Obesity, F... OMIM:176270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Small for gestational age, Obesity, Diabetes mellitus ORPHA:98754
Cohen Syndrome
Childhood-onset truncal obesity, Facial hypotonia, Small for gestational age OMIM:216550
Adrenocortical Carcinoma
Increased body weight, Weight loss, Diabetes mellitus ORPHA:1501
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Obesity, Diabetes mellitus ORPHA:98793
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Obesity, Diabetes mellitus ORPHA:177904
Kohlschutter-Tonz Syndrome-Like
Decreased body weight, Enamel hypoplasia, Overweight, Obesity, Amelogenesis imperfecta OMIM:619229
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Obesity, Diabetes mellitus ORPHA:177901
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity, Macroglossia OMIM:141750
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Flexion contracture, Increased b... ORPHA:398069
White-Sutton Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Ventral hernia, Obesity, Facial hypotonia ORPHA:468678
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Kleefstra Syndrome
Obesity, Hernia, Macroglossia ORPHA:261494
Achondroplasia
Obesity ORPHA:15
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Type II diabetes mellitus, Truncal obesity OMIM:210720
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Hernia of the abdominal wall, Camptodactyly of finger, Ob... ORPHA:3138
Prader-Willi-Like Syndrome
Failure to thrive, Small for gestational age, Obesity, Diabetes mellitus ORPHA:398073
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Flexion contracture, Hepatic failure, Truncal obesity, Lower limb hypertonia, Limb joint contract... OMIM:301072
Steinert Myotonic Dystrophy
Facial diplegia, Hyperinsulinemia, Weakness of facial musculature, Pelvic girdle muscle weakness,... ORPHA:273
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Obesity, Umbilical hernia OMIM:301066
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Proportionate tall stature, Maturity-onset diabetes of ... ORPHA:96149
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity ORPHA:163681
Gaisböck Syndrome
Obesity, Overweight, Diabetes mellitus ORPHA:90041
Craniopharyngioma
Obesity, Type II diabetes mellitus ORPHA:54595
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Obesity ORPHA:457059
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity OMIM:612469
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity OMIM:610475
Bardet-Biedl Syndrome 20
Obesity, Elevated hepatic transaminase OMIM:619471
Cushing Disease
Abdominal obesity, Truncal obesity, Impaired glucose tolerance, Diabetes mellitus, Increased body... ORPHA:96253
Sheehan Syndrome
Hypoglycemia, Obesity ORPHA:91355
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Xylt1-Cdg
Truncal obesity ORPHA:370930
Beckwith-Wiedemann Syndrome
Diastasis recti, Congenital diaphragmatic hernia, Inguinal hernia, Tall stature, Macroglossia, Rh... ORPHA:116
Angelman Syndrome
Obesity ORPHA:72
Cohen Syndrome
Obesity, Failure to thrive in infancy ORPHA:193
7Q11.23 Microduplication Syndrome
Obesity, Congenital diaphragmatic hernia, Inguinal hernia ORPHA:96121
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Diabetes mellitus ORPHA:739
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Low alkaline phosphatase ORPHA:369837
Chops Syndrome
Obesity OMIM:616368
Kallmann Syndrome
Obesity ORPHA:478
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Weight loss, Severe failure to thrive ORPHA:740
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Obesity, Calcinosis ORPHA:79444
Acrodysostosis With Multiple Hormone Resistance
Obesity, Diabetes mellitus ORPHA:280651
Xq21 Microdeletion Syndrome
Obesity, Upper limb muscle weakness, Abnormality of the Achilles tendon ORPHA:1435
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Macroglossia ORPHA:369950
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Obesity OMIM:250420
Hellp Syndrome
Increased body weight, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase... ORPHA:244242
Partial Deletion Of The Short Arm Of Chromosome 7
Flexion contracture of thumb, Obesity ORPHA:261911
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger OMIM:619562
Kabuki Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Inguinal hernia OMIM:618653
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity ORPHA:2637
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Hyperglycemia, Elevated hepatic transaminase ORPHA:293987
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Myhre Syndrome
Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Small for gestational age, Camptodac... OMIM:139210
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Obesity, Calcinosis ORPHA:79443
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Elevated hepatic transaminase, ... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Elevated hepatic transaminase, ... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Elevated hepatic transaminase, ... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Elevated hepatic transaminase, ... ORPHA:99226
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Failure to thrive, Decreased body weight, Jaundice, Elevated hepatic transaminase, O... OMIM:619475
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Obesity, Macroglossia, Hyperglycemia ORPHA:444077
Lysinuric Protein Intolerance
Failure to thrive, Skeletal muscle atrophy, Truncal obesity OMIM:222700
Adnp Syndrome
Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
White-Kernohan Syndrome
Obesity OMIM:619426
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Meningioma
Obesity, Upper limb muscle weakness, Lower limb muscle weakness, Facial palsy ORPHA:2495
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Truncal obesity, Impaired glucose tolerance, Diabetes mellitus, Increased body... ORPHA:99889
22Q11.2 Deletion Syndrome
Failure to thrive, Inguinal hernia, Umbilical hernia, Obesity, Abnormal dental enamel morphology ORPHA:567
Alström Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hepatic failure, Truncal obesity, Elevated gamma-glu... ORPHA:64
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Williams-Beuren Syndrome
Glucose intolerance, Inguinal hernia, Flexion contracture, Umbilical hernia, Diabetes mellitus, P... OMIM:194050
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity ORPHA:529962
Monosomy 22Q13.3
Obesity, Umbilical hernia ORPHA:48652
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Lipodystrophy, Elevated hepatic... ORPHA:79318
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Flexion contracture OMIM:619321
Witteveen-Kolk Syndrome
Type II diabetes mellitus, Congenital diaphragmatic hernia, Inguinal hernia, Small for gestationa... OMIM:613406
Ulnar-Mammary Syndrome
Obesity, Elbow flexion contracture, Inguinal hernia OMIM:181450
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Muscle hypertrophy of the lower extremities ORPHA:1772
1P36 Deletion Syndrome
Failure to thrive, Camptodactyly of finger, Obesity, Myopathy ORPHA:1606
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Williams Syndrome
Type II diabetes mellitus, Inguinal hernia, Macroglossia, Umbilical hernia, Myopathy, Obesity, Fa... ORPHA:904
Rubinstein-Taybi Syndrome 1
Failure to thrive, Flexion contracture, Small for gestational age, Truncal obesity, Keloids, Enam... OMIM:180849
Primrose Syndrome
Hip contracture, Glucose intolerance, Flexion contracture, Truncal obesity, Distal amyotrophy, Kn... OMIM:259050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Failure to thrive, Obesity ORPHA:353281
Carpenter Syndrome 2
Diaphragmatic eventration, Camptodactyly, Knee flexion contracture, Umbilical hernia, Obesity OMIM:614976
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity, Macroglossia, Lower limb hypertonia OMIM:309580
Digeorge Syndrome
Femoral hernia, Inguinal hernia, Obesity, Umbilical hernia OMIM:188400
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Camptodactyly of finger, Camptodactyly OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353277
Carney Complex
Abdominal obesity, Increased body weight, Dorsocervical fat pad, Tall stature ORPHA:1359
Cornelia De Lange Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Truncal obesity ORPHA:199
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture, Macroglossia, Camptodactyl... 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

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

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