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 eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral 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
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio 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
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology ORPHA:2398
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Obes... ORPHA:171706
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Insulin resistance, Myopathy, Abdomina... OMIM:615980
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity OMIM:615703
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age 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
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Ch... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Ch... ORPHA:71526
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal mus... OMIM:613877
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Obesity And Hypopigmentation
Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia ORPHA:79084
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 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
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity OMIM:617885
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Acquired Partial Lipodystrophy
Myopathy, Insulin resistance, Lipoatrophy ORPHA:79087
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
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
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... OMIM:612526
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Summitt Syndrome
Obesity OMIM:272350
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Lipodystro... ORPHA:435660
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity OMIM:615981
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Congenital Generalized Lipodystrophy
Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, Hyperinsulinemia, Skel... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Elevated hepatic transaminase, Diabetes mellitus, L... OMIM:615381
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Retinitis Pigmentosa
Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:791
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Insulin resistance, Lipodystrophy ORPHA:79085
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... ORPHA:363400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Keloids, Hyperinsulinemia, Obesity ORPHA:3085
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... ORPHA:324575
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Mehmo Syndrome
Small for gestational age, Obesity, Hypoglycemia OMIM:300148
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Diabetes mellitus, L... ORPHA:79083
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... ORPHA:276608
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Insu... ORPHA:2348
Familial Multiple Lipomatosis
Insulin resistance, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Blue Diaper Syndrome
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli... ORPHA:94086
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity ORPHA:254516
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Obesity OMIM:610628
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Flexion contracture,... OMIM:616222
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Leptin Receptor Deficiency
Diabetes mellitus, Obesity OMIM:614963
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... OMIM:214150
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive ORPHA:73272
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Jaundice, Increased body weight ORPHA:890
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Type II diabetes mellitus, Obesity ORPHA:2234
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Short Syndrome
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Insulin resistance, Absen... OMIM:269880
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Maturity-onset diabetes of the young ORPHA:254531
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... ORPHA:98855
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hy... ORPHA:276580
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:2298
Trisomy 5P
Obesity ORPHA:1742
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Obesity, Muscular dystrophy ORPHA:459033
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
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
Elevated hepatic transaminase, Lipodystrophy, Centrally nucleated skeletal muscle fibers, Insulin... OMIM:613327
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Obesity ORPHA:3191
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatic failure, Impaired glucose tolerance, Obesity OMIM:615630
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... ORPHA:98863
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... ORPHA:261
Morm Syndrome
Truncal obesity ORPHA:75858
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... ORPHA:98853
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Overweight, Intrahepatic cholestasis, Obesity, ... ORPHA:69663
Biemond Syndrome Type 2
Obesity ORPHA:141333
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Diabetes mellitus, Small for gestational age, Increased body weight OMIM:274300
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Macroglossia, Increased body weight OMIM:614450
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperin... ORPHA:276575
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Lower limb muscle weakness, Obesity OMIM:619737
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
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Large for gestational age, Hyperinsulinemia, Increased body weight... ORPHA:263455
Immunodeficiency 61
Obesity OMIM:300310
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy OMIM:604360
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity, Maturity-onset diabetes of the young ORPHA:96184
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recur... ORPHA:813
Werner Syndrome
Skeletal muscle atrophy, Lipoatrophy, Lipodystrophy, Insulin resistance, Type II diabetes mellitu... ORPHA:902
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity OMIM:618822
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Hyperglycemia OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Dorsocervical fat pad, Increased body weight OMIM:615830
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity OMIM:614202
48,Xxyy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature ORPHA:10
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Obesity OMIM:614613
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:66628
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Obesity ORPHA:77296
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia OMIM:615812
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Bdv Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Obesity OMIM:619326
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Baralle-Macken Syndrome
Obesity OMIM:619255
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:179494
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsu... ORPHA:79086
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate aminotransferase co... OMIM:617253
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity OMIM:612463
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Diabetes mellitus, Hypoglycemia, Large for gestational age, Elevat... OMIM:616026
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Chung-Jansen Syndrome
Obesity OMIM:617991
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Aromatase Deficiency
Eunuchoid habitus, Insulin resistance, Obesity, Type II diabetes mellitus, Tall stature ORPHA:91
Laurence-Moon Syndrome
Obesity OMIM:245800
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity ORPHA:314795
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Truncal obesity, Inguinal hernia, Diabetes mellitus OMIM:616541
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Laron Syndrome
Truncal obesity, Hypoglycemia ORPHA:633
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Obesity, Glucose intolerance, Abdominal obesity OMIM:219090
Clark-Baraitser Syndrome
Obesity OMIM:617752
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Wagr Syndrome
Obesity ORPHA:893
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Diabetes mellitus, Hand muscle weakness, Fatty replacement of skel... ORPHA:98908
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity, Hypomimic face ORPHA:93952
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Schaaf-Yang Syndrome
Failure to thrive in infancy, Flexion contracture, Obesity, Camptodactyly, Arthrogryposis multipl... OMIM:615547
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Obesity ORPHA:464282
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Retinitis Pigmentosa 51
Obesity OMIM:613464
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hypoglycemic seizures OMIM:609734
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, Failure to thrive ORPHA:94065
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Insulin-resistant diabetes mellitus,... ORPHA:435651
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Bardet-Biedl Syndrome 1
Diabetes mellitus, Insulin resistance, Obesity, Truncal obesity, Abdominal obesity, Left ventricu... OMIM:209900
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Diastasis recti, Large for gestational age, Overgrowth, U... ORPHA:254534
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Truncal obesity, Decreased... OMIM:270450
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Camptodactyly of finger, Obesity ORPHA:3409
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hepatitis, Increased body weight,... ORPHA:905
Megalencephaly
Truncal obesity ORPHA:2477
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age OMIM:618272
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Small for gestational age, Overwe... ORPHA:26793
Microtriplication 11Q24.1
Obesity ORPHA:289522
Carpenter Syndrome
Umbilical hernia, Obesity ORPHA:65759
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Flexion contracture, Wrist flexion contracture, Obesity OMIM:300055
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Truncal obesity, Congenital diaphragmatic hernia ORPHA:284180
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature ORPHA:96263
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Decreased muscle mass, Flexion contracture ... ORPHA:3041
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Generalized lipodystrophy ORPHA:90154
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Whipple Disease
Insulin resistance, Myositis, Cachexia ORPHA:3452
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Skeletal mu... ORPHA:79240
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Neonatal hypoglycemia, Large for gestation... ORPHA:79644
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Down Syndrome
Macroglossia, Umbilical hernia, Type II diabetes mellitus, Obesity ORPHA:870
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Macroglossia, Abdominal obesity OMIM:300354
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Senior-Loken Syndrome 9
Obesity OMIM:616629
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Increased body weight, Proximal amyotrophy, Glucose intolerance, Abdominal... ORPHA:189427
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
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
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Joubert Syndrome 8
Obesity, Prolonged neonatal jaundice OMIM:612291
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Obesity, Myopathy, Shoulder girdle muscle weakness, Increased intr... ORPHA:98907
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Joubert Syndrome 37
Obesity OMIM:619185
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Dysbetalipoproteinemia
Tendon xanthomatosis, Diabetes mellitus, Obesity ORPHA:412
Alstrom Syndrome
Elevated hepatic transaminase, Chronic active hepatitis, Insulin-resistant diabetes mellitus, Hyp... OMIM:203800
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Proportionate tall stature, Obesity ORPHA:404443
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Skeletal muscle atrophy ORPHA:127
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Skeletal mu... ORPHA:264580
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Insulin resistance, Hyperinsulinemi... ORPHA:508
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Small for gestational age, Insulin resistance, Fasting hypoglycemia, Failu... ORPHA:96182
Perrault Syndrome 4
Disproportionate tall stature, Obesity OMIM:615300
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Umbilical hernia, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Obesity ORPHA:110
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus ORPHA:401923
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Diabetes mellitus, Obesity ORPHA:563
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity OMIM:619269
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Obesity, Macroglossia, Failure to thrive ORPHA:96147
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity OMIM:612462
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Obesity ORPHA:254346
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Overweight, Obesity ORPHA:247353
Sim1-Related Prader-Willi-Like Syndrome
Type II diabetes mellitus, Abdominal obesity, Failure to thrive, Obesity ORPHA:398079
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity OMIM:103580
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Hypoglycemic seizures, Failure to thrive OMIM:616364
Gitelman Syndrome
Maternal diabetes, Insulin resistance, Rhabdomyolysis, Glucose intolerance, Diabetic ketoacidosis... ORPHA:358
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Obesity OMIM:619680
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lower limb hypertonia, Obesity, Limb hypertonia OMIM:617296
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:439822
Adiposis Dolorosa
Obesity ORPHA:36397
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity ORPHA:85293
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Man1B1-Cdg
Truncal obesity ORPHA:397941
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Carpenter Syndrome 1
Omphalocele, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:201000
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Sotos Syndrome
Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Prolonged neonatal jaundice... OMIM:117550
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity ORPHA:819
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Jaundice, Diabetes mellitus, Obesity OMIM:614231
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Angelman Syndrome
Macroglossia, Obesity OMIM:105830
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Skeletal muscle atrophy OMIM:219080
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Generalized limb muscle atrophy, Distal amyotrophy, Lower limb muscle weakness ORPHA:2822
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity ORPHA:209902
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Desbuquois Dysplasia 1
Obesity OMIM:251450
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Abdominal obesity... OMIM:176270
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity ORPHA:251004
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Kleefstra Syndrome 1
Macroglossia, Obesity OMIM:610253
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Adrenocortical Carcinoma
Diabetes mellitus, Increased body weight, Weight loss ORPHA:1501
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... ORPHA:79102
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Decreased body weight, Enamel hypoplasia, Amelogenesis imperfecta OMIM:619229
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
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Obesity ORPHA:468678
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity ORPHA:98754
Cohen Syndrome
Small for gestational age, Facial hypotonia, Childhood-onset truncal obesity OMIM:216550
Retinitis Pigmentosa 74
Obesity OMIM:616562
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Failure... ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity ORPHA:98793
Achondroplasia
Obesity ORPHA:15
Kleefstra Syndrome
Macroglossia, Obesity, Hernia ORPHA:261494
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity ORPHA:177904
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity ORPHA:177901
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Hernia of the abdominal wall, Camptodactyly of finger, Ob... ORPHA:3138
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity ORPHA:163681
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Flexion contracture, Truncal obesity, Lower limb... OMIM:301072
Gaisböck Syndrome
Overweight, Diabetes mellitus, Obesity ORPHA:90041
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Abnormality of the ton... ORPHA:273
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Hypoglycemia, Obesity OMIM:301066
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Elbow flex... ORPHA:96149
Craniopharyngioma
Type II diabetes mellitus, Obesity ORPHA:54595
Cushing Disease
Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Increased body weight, Prox... ORPHA:96253
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity OMIM:610475
Wagro Syndrome
Obesity OMIM:612469
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Obesity OMIM:619471
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Sheehan Syndrome
Hypoglycemia, Obesity ORPHA:91355
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Webb-Dattani Syndrome
Obesity OMIM:615926
Angelman Syndrome
Obesity ORPHA:72
Cohen Syndrome
Failure to thrive in infancy, Obesity ORPHA:193
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Hypoglycemia, Diastasis recti, Congenital diaphragmatic hernia, Lar... ORPHA:116
Xylt1-Cdg
Truncal obesity ORPHA:370930
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Hypoglycemia, Congenital diaphragmatic hernia, Larg... OMIM:267000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low alkaline phosphatase, Obesity ORPHA:369837
Prader-Willi Syndrome
Diabetes mellitus, Abdominal obesity, Failure to thrive ORPHA:739
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Pseudohypoparathyroidism Type 1C
Calcinosis, Enamel hypoplasia, Obesity ORPHA:79444
Chops Syndrome
Obesity OMIM:616368
7Q11.23 Microduplication Syndrome
Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:96121
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger OMIM:619562
Kallmann Syndrome
Obesity ORPHA:478
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Hellp Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Increas... ORPHA:244242
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Insulin resistance, Absence of subcutaneous fat, Weight loss ORPHA:740
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Failure to thrive, Obesity ORPHA:369950
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity OMIM:618653
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Kabuki Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Xq21 Microdeletion Syndrome
Upper limb muscle weakness, Abnormality of the Achilles tendon, Obesity ORPHA:1435
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity ORPHA:2637
Pseudohypoparathyroidism Type 1A
Calcinosis, Enamel hypoplasia, Obesity ORPHA:79443
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Myhre Syndrome
Small for gestational age, Generalized muscle hypertrophy, Obesity, Skeletal muscle hypertrophy, ... OMIM:139210
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical ... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical ... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical ... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical ... ORPHA:99226
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyperglycemia, Obesity ORPHA:293987
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Hyperglycemia, Obesity ORPHA:444077
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, Failure to thrive, Facial palsy, Obesity OMIM:615873
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Torticollis, Overweight, Jaundice, Obesity, Decreased body weight,... OMIM:619475
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Lysinuric Protein Intolerance
Truncal obesity, Failure to thrive, Skeletal muscle atrophy OMIM:222700
White-Kernohan Syndrome
Obesity OMIM:619426
Adnp Syndrome
Umbilical hernia, Inguinal hernia, Truncal obesity ORPHA:404448
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Increased body weight, Weig... ORPHA:99889
Meningioma
Upper limb muscle weakness, Facial palsy, Lower limb muscle weakness, Obesity ORPHA:2495
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Umbilical hernia, Failure to thrive ORPHA:567
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Portal hypertension, Flexion co... OMIM:194050
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Monosomy 22Q13.3
Umbilical hernia, Obesity ORPHA:48652
Alström Syndrome
Elevated hepatic transaminase, Dorsocervical fat pad, Portal hypertension, Insulin resistance, Hy... ORPHA:64
45,X/46,Xy Mixed Gonadal Dysgenesis
Muscle hypertrophy of the lower extremities, Obesity ORPHA:1772
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy ORPHA:529962
Witteveen-Kolk Syndrome
Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture... OMIM:613406
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Abnormal subcutaneous ... ORPHA:79318
Carpenter Syndrome 2
Diaphragmatic eventration, Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia OMIM:614976
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Flexion contracture OMIM:619321
1P36 Deletion Syndrome
Myopathy, Failure to thrive, Camptodactyly of finger, Obesity ORPHA:1606
Ulnar-Mammary Syndrome
Inguinal hernia, Elbow flexion contracture, Obesity OMIM:181450
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity OMIM:617157
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Failure to thrive, Obesity ORPHA:353281
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Williams Syndrome
Inguinal hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, Obesity, Macrog... ORPHA:904
Rubinstein-Taybi Syndrome 1
Small for gestational age, Flexion contracture, Truncal obesity, Keloids, Enamel hypoplasia, Fail... OMIM:180849
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Flexion contracture, Knee flexion co... OMIM:259050
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
Digeorge Syndrome
Umbilical hernia, Inguinal hernia, Femoral hernia, Obesity OMIM:188400
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Camptodactyly of finger, Camptodactyly OMIM:607872
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive, Camptodactyly OMIM:612474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Macroglossia, Lower limb hypertonia, Obesity OMIM:309580
Carney Complex
Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature ORPHA:1359
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia ORPHA:199
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Macr... 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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