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Gene: Pnliprp1 MGI:97723

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
pancreatic lipase related protein 1
Synonyms:
Plrp1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

Human diseases caused by Pnliprp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pnliprp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology ORPHA:2398
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Obesity, Fasting hypoglycemia ORPHA:171706
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Red hair, Failure to ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Red hair, Failure to ... ORPHA:71526
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity OMIM:615703
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abdominal obesity, Diabetes mellitus, Lipodystrophy OMIM:615980
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Intellectual Developmental Disorder, X-Linked 97
Synophrys, Obesity OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age OMIM:256450
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Thick eyebrow OMIM:309585
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia ORPHA:79084
Narcolepsy Type 1
Obesity ORPHA:2073
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Lipoatrophy, Insulin resistance, Lipodystrophy OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... OMIM:612526
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Generalized hirsutism ORPHA:79087
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Syndromic X-Linked Intellectual Disability 7
Obesity, Sparse body hair ORPHA:85274
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Intellectual Developmental Disorder, X-Linked 91
Obesity, Low posterior hairline OMIM:300577
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Summitt Syndrome
Obesity OMIM:272350
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity OMIM:617885
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
11P15.4 Microduplication Syndrome
Synophrys, Obesity, Highly arched eyebrow ORPHA:300305
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Elevated hepatic transaminase, Diabetes mellitus, L... OMIM:615381
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Congenital Generalized Lipodystrophy
Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, Hyperinsulinemia, Low ... ORPHA:528
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Insulin resistance, Lipodystrophy ORPHA:79085
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Insulin resistance, Insulin-resistan... ORPHA:435660
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity OMIM:615981
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Sparse body hair ORPHA:261483
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... ORPHA:363400
Retinitis Pigmentosa
Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:791
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Hirsutism OMIM:604931
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Keloids, Hyperinsulinemia, Obesity ORPHA:3085
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... OMIM:214150
Familial Multiple Lipomatosis
Insulin resistance, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... ORPHA:324575
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior... ORPHA:73272
Mehmo Syndrome
Small for gestational age, Obesity, Hypoglycemia OMIM:300148
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, I... ORPHA:3163
Short Syndrome
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Insulin resistance, Absen... OMIM:269880
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Polycystic Ovary Syndrome 1
Obesity, Hirsutism OMIM:184700
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Type II diabetes mellitus, Obesity, Sparse body hair ORPHA:2234
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... ORPHA:276608
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Jaundice, Increased body weight ORPHA:890
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Insu... ORPHA:2348
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Flexion contracture,... OMIM:616222
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Maternal diabetes, ... ORPHA:79083
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow ORPHA:2429
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Insulin-Resistance Syndrome Type B
Alopecia, Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resis... ORPHA:2298
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline ORPHA:2183
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity ORPHA:254516
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Trisomy 5P
Obesity ORPHA:1742
Blue Diaper Syndrome
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli... ORPHA:94086
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Synophrys, Obesity, Long eyelashes, Lipoma, Thick eyebrow ORPHA:480907
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Obesity, Low posterior hairline ORPHA:2233
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Obesity OMIM:610628
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Leptin Receptor Deficiency
Diabetes mellitus, Obesity OMIM:614963
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Maturity-onset diabetes of the young ORPHA:254531
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hy... ORPHA:276580
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Morm Syndrome
Truncal obesity ORPHA:75858
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Hirsutism OMIM:615830
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Rafiq Syndrome
Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Flexion contracture, Obesity, Truncal obesi... OMIM:614202
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Obesity ORPHA:3191
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:444002
Acromegaloid Facial Appearance Syndrome
Synophrys, Highly arched eyebrow, Large for gestational age OMIM:102150
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Werner Syndrome
Sparse scalp hair, Lipoatrophy, Lipodystrophy, Abnormal hair whorl, Insulin resistance, Premature... ORPHA:902
Biemond Syndrome Type 2
Obesity ORPHA:141333
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Obesity ORPHA:177910
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsul... OMIM:613327
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatic failure, Impaired glucose tolerance, Obesity OMIM:615630
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Baralle-Macken Syndrome
Obesity, Hirsutism OMIM:619255
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Diabetes mellitus, Obesity OMIM:614613
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Synophrys, Horizontal eyebrow, Obesity ORPHA:352530
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Overweight, Intrahepatic cholestasis, Obesity, ... ORPHA:69663
Immunodeficiency 61
Obesity OMIM:300310
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Diabetes mellitus, Small for gestational age, Increased body weight OMIM:274300
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Chung-Jansen Syndrome
Synophrys, Obesity, Thick eyebrow OMIM:617991
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Obesity, Hirsutism ORPHA:77296
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Hirsutism ORPHA:90301
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity OMIM:612463
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperin... ORPHA:276575
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Large for gestational age, Hyperinsulinemia, Increased body weight... ORPHA:263455
14Q11.2 Microduplication Syndrome
Obesity, Highly arched eyebrow ORPHA:261229
Wilson-Turner Syndrome
Truncal obesity, Thick eyebrow ORPHA:3459
48,Xxyy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature ORPHA:10
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
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... ORPHA:79086
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Obesity ORPHA:411515
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity OMIM:619737
Chromosome 3Q29 Duplication Syndrome
Obesity, Low posterior hairline OMIM:611936
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Aromatase Deficiency
Eunuchoid habitus, Insulin resistance, Obesity, Type II diabetes mellitus, Generalized hirsutism,... ORPHA:91
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia ORPHA:813
Laurence-Moon Syndrome
Obesity OMIM:245800
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
X-Linked Intellectual Disability, Stevenson Type
Thick eyebrow, Obesity, Tall stature ORPHA:85325
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Hyperglycemia OMIM:615954
6Q16 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:171829
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:66628
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Sparse scalp hair, Diabetes mellitus, Lipodystrophy, Highly ... OMIM:270450
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Sparse hair OMIM:616541
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Monosomy 13Q34
Insulin resistance, Horizontal eyebrow, Obesity ORPHA:96168
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Bdv Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Obesity OMIM:619326
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age, Sparse body hair OMIM:300869
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:179494
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia OMIM:615812
Wagr Syndrome
Obesity ORPHA:893
Clark-Baraitser Syndrome
Obesity OMIM:617752
Microtriplication 11Q24.1
Synophrys, Long eyelashes, Obesity, Thick eyebrow ORPHA:289522
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity, Hypoglycemic seizures OMIM:609734
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate aminotransferase co... OMIM:617253
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Schaaf-Yang Syndrome
Failure to thrive in infancy, Flexion contracture, Obesity, Camptodactyly, Arthrogryposis multipl... OMIM:615547
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Diabetes mellitus, Hypoglycemia, Large for gestational age, Elevat... OMIM:616026
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Synophrys OMIM:613192
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Thick hair, Insulin resistance, ... ORPHA:769
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Obesity, Glucose intolerance, Abdominal obesity, Hirsutism OMIM:219090
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Retinitis Pigmentosa 51
Obesity OMIM:613464
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, High anterior hairli... ORPHA:94065
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Congenital Myopathy 9A
Obesity OMIM:618822
Chromosome 16P13.3 Deletion Syndrome, Proximal
Facial hypertrichosis, Failure to thrive, Obesity, Abnormality of the hairline OMIM:610543
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long eyelashes, Obesity, Tall stature OMIM:618089
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Insulin resistance, Generalized lipodystrophy, Nail dystrophy ORPHA:90154
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Laron Syndrome
Truncal obesity, Hypoglycemia ORPHA:633
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... OMIM:606721
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age OMIM:618272
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98855
Carpenter Syndrome
Umbilical hernia, Obesity ORPHA:65759
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Sparse hair, Umbilical hernia, High anterior ha... ORPHA:284180
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
Bardet-Biedl Syndrome 1
Diabetes mellitus, Insulin resistance, Obesity, Truncal obesity, Abdominal obesity, Hirsutism OMIM:209900
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Synophrys, Low anterior hairline, Truncal obesity, Long eyelashes, Hirsutism OMIM:300882
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Camptodactyly of finger, Obesity ORPHA:3409
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Broad lateral eyebrow, Long eyelashes, Obesity, Neonatal hypoglycemia OMIM:608624
Megalencephaly
Truncal obesity ORPHA:2477
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, High anterior hairline, Hir... ORPHA:247768
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Sparse eyelashes, Adipose tissue loss, Insulin resi... ORPHA:125
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Insulin-resistant diabetes mellitus,... ORPHA:435651
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Frontal balding, Early balding, Truncal obesity, Flexion con... ORPHA:3041
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98853
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Shox-Related Short Stature
Obesity ORPHA:314795
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Synophrys, Increased body weight ORPHA:589905
Distal 16P11.2 Microdeletion Syndrome
Low anterior hairline, Obesity ORPHA:261222
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Wrist flexion contracture, Obesity OMIM:300055
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hepatitis, Increased body weight,... ORPHA:905
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature ORPHA:96263
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Long eyelashes, Obesity OMIM:620191
Luscan-Lumish Syndrome
High anterior hairline, Overgrowth, Obesity, Hirsutism OMIM:616831
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Small for gestational age, Overweight, Jaundice, Obesity, Hypoketo... ORPHA:26793
Macrocephaly/Autism Syndrome
Coarse hair, Overgrowth, Obesity, Large for gestational age OMIM:605309
Joubert Syndrome 37
Sparse hair, Obesity OMIM:619185
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Chromosome 2Q37 Deletion Syndrome
Obesity, Highly arched eyebrow OMIM:600430
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Dorsocervical fat pad, Increased body weight, Glucose intolerance, Abdominal obesity, H... ORPHA:189427
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Obesity, Fine hair, Long eyelashes, Overgrowth OMIM:620250
Leprechaunism
Reduced subcutaneous adipose tissue, Facial hypertrichosis, Insulin resistance, Hyperinsulinemia,... ORPHA:508
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Proportionate tall stature, Thick eyebrow, Obesity ORPHA:404443
Senior-Loken Syndrome 9
Obesity OMIM:616629
Whipple Disease
Insulin resistance, Cachexia ORPHA:3452
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Down Syndrome
Sparse hair, Umbilical hernia, Type II diabetes mellitus, Obesity ORPHA:870
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Thick hair, Type II diabetes mellitus, Highly arched eyebrow ORPHA:401923
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Flexion contracture,... ORPHA:90153
Adiposis Dolorosa
Sparse pubic hair, Obesity, Sparse axillary hair ORPHA:36397
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Joubert Syndrome 8
Obesity, Prolonged neonatal jaundice OMIM:612291
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Synophrys, Low anterior hairline, Obesity, L... OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
Man1B1-Cdg
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes ORPHA:397941
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairline, Nail dystrophy, Hi... OMIM:300860
Alstrom Syndrome
Elevated hepatic transaminase, Alopecia, Chronic active hepatitis, Insulin-resistant diabetes mel... OMIM:203800
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Neonatal hypoglycemia, Large for gestation... ORPHA:79644
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Sparse hair, Thick eyebrow ORPHA:127
2Q37 Microdeletion Syndrome
Sparse scalp hair, Highly arched eyebrow, Congenital diaphragmatic hernia, Sparse eyebrow, Supern... ORPHA:1001
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Perrault Syndrome 4
Disproportionate tall stature, Obesity OMIM:615300
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Supernumerary nipple ORPHA:3224
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Obesity, Generalized hirsutism ORPHA:110
Septo-Optic Dysplasia Spectrum
Obesity, Maternal diabetes ORPHA:3157
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity OMIM:612462
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Synophrys, Obesity, Generalized hirsutism ORPHA:254346
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Synophrys, Obesity ORPHA:85293
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Small for gestational age, Fasting hypoglycemia ORPHA:96182
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Obesity ORPHA:411511
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Highly arched eyebrow, Synophrys, Obesity, Failure to thrive ORPHA:96147
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity OMIM:103580
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Obesity, Abdominal obesity, Type II diabetes mellitus, Failure to thrive ORPHA:398079
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Abcd Syndrome
Albinism, White eyelashes, White eyebrow, Large for gestational age OMIM:600501
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Overweight, Obesity ORPHA:247353
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
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:439822
Gitelman Syndrome
Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ketoacidosis, Type II diabet... ORPHA:358
White-Sutton Syndrome
Congenital diaphragmatic hernia, Obesity, Hypoglycemic seizures, Sparse hair, Failure to thrive OMIM:616364
Dysbetalipoproteinemia
Diabetes mellitus, Obesity ORPHA:412
Smith-Magenis Syndrome
Synophrys, Failure to thrive in infancy, Obesity ORPHA:819
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Ketotic hyp... ORPHA:79240
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Rabin-Pappas Syndrome
Highly arched eyebrow, Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Sotos Syndrome
Tall stature, Sparse eyebrow, Increased body weight, Glucose intolerance, Overgrowth, Prolonged n... OMIM:117550
Carpenter Syndrome 1
Omphalocele, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:201000
Peripartum Cardiomyopathy
Diabetes mellitus, Obesity ORPHA:563
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypoglycemi... ORPHA:264580
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity, Breast hypoplasia ORPHA:2235
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Alopecia, Obesity ORPHA:98907
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity ORPHA:251004
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Den Hoed-De Boer-Voisin Syndrome
Overweight, Widow's peak, Obesity, Decreased body weight, Enamel hypoplasia, Thick eyebrow, Amelo... OMIM:619229
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Synophrys, Obesity, Thick eyebrow OMIM:618443
Angelman Syndrome
Fair hair, Obesity OMIM:105830
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity ORPHA:209902
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Adrenocortical Carcinoma
Hypertrichosis, Diabetes mellitus, Increased body weight, Weight loss ORPHA:1501
Smith-Magenis Syndrome
Synophrys, Increased body weight OMIM:182290
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Obesity ORPHA:98794
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Abdominal obes... OMIM:176270
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Diabete... ORPHA:98908
Desbuquois Dysplasia 1
Obesity OMIM:251450
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Umbilical hernia, Hiatus hernia OMIM:619769
Ulnar-Mammary Syndrome
Camptodactyly of finger, Obesity, Breast aplasia, Hypoplastic nipples, Absent axillary hair, Hern... ORPHA:3138
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Jaundice, Diabetes mellitus, Obesity OMIM:614231
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, Failure to thrive, Large for gestational age OMIM:614520
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity ORPHA:319675
Kleefstra Syndrome
Highly arched eyebrow, Supernumerary nipple, Synophrys, Obesity, Hernia ORPHA:261494
Kleefstra Syndrome 1
Synophrys, Obesity OMIM:610253
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Obesity, Failure to thrive ORPHA:98754
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow OMIM:620072
Retinitis Pigmentosa 74
Obesity OMIM:616562
Chops Syndrome
Curly hair, Thick hair, Synophrys, Obesity, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Obesity, Failure to thrive ORPHA:98793
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Flexion contracture, Increased body weight, Abdominal obesity, Type II ... ORPHA:398069
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Obesity, Failure to thrive ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Obesity, Failure to thrive ORPHA:177901
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Low anterior hairline, Obe... ORPHA:193
Achondroplasia
Obesity ORPHA:15
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Thick eyebrow OMIM:216550
Xylt1-Cdg
Truncal obesity, Synophrys, Hirsutism ORPHA:370930
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus, Sparse scalp hair OMIM:210720
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Sheehan Syndrome
Hypoglycemia, Sparse axillary hair, Sparse pubic hair, Obesity, Breast hypoplasia ORPHA:91355
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Cushing Disease
Sparse scalp hair, Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Increase... ORPHA:96253
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Synophrys, Hypoglycemia, Obesity OMIM:301066
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity OMIM:610475
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Elbow flex... ORPHA:96149
Wagro Syndrome
Obesity OMIM:612469
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Obesity OMIM:619471
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Angelman Syndrome
Fair hair, Obesity ORPHA:72
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Insulin resistance, Absence of subcutaneous fat, Loss of eyelas... ORPHA:740
Gaisböck Syndrome
Overweight, Diabetes mellitus, Obesity ORPHA:90041
Webb-Dattani Syndrome
Obesity OMIM:615926
Craniopharyngioma
Type II diabetes mellitus, Obesity ORPHA:54595
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Kallmann Syndrome
Obesity, Breast hypoplasia ORPHA:478
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Inguinal hernia, Obesity, Highly arched eyebrow OMIM:618653
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Synophrys, Hirsutism, Obesity, Truncal obesity, Thick eyebrow ORPHA:466950
Prader-Willi Syndrome
Diabetes mellitus, Abdominal obesity, Failure to thrive, Hypopigmentation of hair ORPHA:739
7Q11.23 Microduplication Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Sparse anterior scalp hair, Obesity, Long eyela... ORPHA:96121
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Flexion contracture, Limb joint contracture, Hepatic failure OMIM:301072
Intellectual Developmental Disorder, Autosomal Dominant 29
Synophrys, Obesity, Hirsutism OMIM:616078
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Obesity, Weight loss ORPHA:79102
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low alkaline phosphatase, Obesity ORPHA:369837
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Desbuquois Dysplasia 2
Truncal obesity, Synophrys OMIM:615777
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Early balding, Insulin resistance, Hy... ORPHA:273
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger OMIM:619562
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Kabuki Syndrome
Highly arched eyebrow, Congenital diaphragmatic hernia, Obesity, Long eyelashes, Failure to thriv... ORPHA:2322
Hellp Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Increas... ORPHA:244242
White-Kernohan Syndrome
Synophrys, Broad medial eyebrow, Obesity, Long eyelashes, Horizontal eyebrow, Thick eyebrow OMIM:619426
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Thick hair, Highly arched eyebrow, Synophrys, Obesity, Long eyelashes, Facial hirsuti... ORPHA:444077
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age OMIM:267000
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Thick eyebrow ORPHA:369950
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Obesity ORPHA:79444
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Hypoglycemia, Congenital diaphragmatic hernia, Large for gestationa... ORPHA:116
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Obesity ORPHA:177907
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Adnp Syndrome
Sparse scalp hair, Inguinal hernia, Truncal obesity, Umbilical hernia, High anterior hairline, Hi... ORPHA:404448
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Hyperinsulinemia, Obesity,... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Hyperinsulinemia, Obesity,... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Hyperinsulinemia, Obesity,... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Hyperinsulinemia, Obesity,... ORPHA:99226
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Synophrys, Obesity ORPHA:466943
Myhre Syndrome
Small for gestational age, Obesity, Fine hair, Camptodactyly, Sparse hair, Thick eyebrow OMIM:139210
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Obesity ORPHA:79443
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Broad eyebrow, Overweight, Jaundice, Synophrys, Obesity, Decreased... OMIM:619475
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, High anterior hairline, Failure to thrive, Obesity OMIM:615873
6Q Terminal Deletion Syndrome
Failure to thrive, Low anterior hairline, Obesity, Highly arched eyebrow ORPHA:75857
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyperglycemia, Obesity ORPHA:293987
Lysinuric Protein Intolerance
Sparse hair, Truncal obesity, Failure to thrive, Fine hair OMIM:222700
Monosomy 22Q13.3
Umbilical hernia, Long eyelashes, Obesity, Thick eyebrow ORPHA:48652
Ulnar-Mammary Syndrome
Inguinal hernia, Sparse axillary hair, Elbow flexion contracture, Obesity, Hypoplastic nipples, A... OMIM:181450
17Q24.2 Microdeletion Syndrome
Truncal obesity, Synophrys, Failure to thrive in infancy, Thick eyebrow ORPHA:529962
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Increase... ORPHA:99889
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Alström Syndrome
Elevated hepatic transaminase, Dorsocervical fat pad, Portal hypertension, Frontal balding, Insul... ORPHA:64
Carpenter Syndrome 2
Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Low anterior hairline, Obesity, Knee... OMIM:614976
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Umbilical hernia, Failure to thrive ORPHA:567
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, ... OMIM:194050
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Abnormal subcutaneous ... ORPHA:79318
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Thick eyebrow, Small for gestational age, Highly arched eyebrow, Frontal hirsutism... OMIM:180849
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Small for gestational age, Congenital diaphragmat... OMIM:613406
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Abdominal obesity, Flexion contracture OMIM:619321
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sparse hair, Frontal hirsutism, Failure to thrive, Obesity OMIM:617157
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Camptodactyly of finger, Obesity, Horizontal eyebrow, Failure to thr... ORPHA:1606
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Low posterior hairline ORPHA:1772
Meningioma
Obesity ORPHA:2495
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Failure to thrive, Obesity ORPHA:353281
Primrose Syndrome
Hip contracture, Sparse scalp hair, Diabetes mellitus, Absent facial hair, Synophrys, Flexion con... OMIM:259050
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Cornelia De Lange Syndrome
Curly eyelashes, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Low anterior ... ORPHA:199
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Trichiasis, Obesity, Corneal scarring, Keloids, Failure to thrive ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Trichiasis, Obesity, Corneal scarring, Keloids, Failure to thrive ORPHA:353277
Williams Syndrome
Inguinal hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, Obesity, Type I... ORPHA:904
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Frontal balding, Synophrys, Truncal obesity, Long lower eyelashes, Camptod... OMIM:612474
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Synophrys, Obesity, Horizontal eyebrow, Camptodactyly, Abnormality of th... OMIM:607872
Carney Complex
Dorsocervical fat pad, Hirsutism, Increased body weight, Abdominal obesity, Ductal carcinoma in s... ORPHA:1359
Digeorge Syndrome
Umbilical hernia, Inguinal hernia, Femoral hernia, Obesity OMIM:188400
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity OMIM:309580
Pallister-Killian Syndrome
Omphalocele, Sparse scalp hair, Inguinal hernia, Alopecia, Sparse eyelashes, Congenital diaphragm... 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 Pnliprp1

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 Pnliprp1.

No publications found that use IMPC mice or data for Pnliprp1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pnliprp1tm372673(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pnliprp1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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