banner
Genes Phenotypes Help, News, Blog

Gene: Arrdc3 MGI:2145242

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
arrestin domain containing 3
Synonyms:
N/A

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 Arrdc3 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 Arrdc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Scalp Defects And Postaxial Polydactyly
Aplasia cutis congenita of scalp OMIM:181250
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Thin skin ORPHA:1658
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Dermoodontodysplasia
Thin skin OMIM:125640
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Thin skin, Striae distensae OMIM:225310
Schizophrenia 15
Hyperactivity OMIM:613950
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:743
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Acrogeria
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Pseudoprogeria Syndrome
Failure to thrive, Thin skin, Decreased body weight ORPHA:2985
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Increased serum serotonin ORPHA:85288
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Skin dimple, Failure to thrive, Thin skin ORPHA:261304
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Milia, Erythematous plaque, Thin skin, Dermal atrophy ORPHA:158673
Fetal Encasement Syndrome
Thin skin OMIM:613630
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Thin skin ORPHA:157965
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... ORPHA:528
Dermoodontodysplasia
Thin skin, Melanocytic nevus ORPHA:1660
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Miscarriage, Insulin-resistant diabetes mellitu... OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... OMIM:612526
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin OMIM:225320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly... ORPHA:276575
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... ORPHA:369
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule ORPHA:89843
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Silver-Russell Syndrome 2
Thin skin OMIM:618905
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin ORPHA:1810
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Aplasia cutis congenita ORPHA:79499
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul... ORPHA:79237
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... ORPHA:79100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin OMIM:617364
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Cigarette-paper scars, Thin skin, Webbed neck OMIM:612350
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:2028
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Atrophic scars, Thin skin ORPHA:75496
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Periventricular Nodular Heterotopia
Thin skin ORPHA:98892
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... OMIM:608612
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Superficial Epidermolytic Ichthyosis
Thin skin ORPHA:455
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:269700
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyp... OMIM:246200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Thin skin, Striae distensae OMIM:219080
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Failure to thrive, Milia, Congenital localized absence of skin OMIM:226700
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Thin skin, Striae distensae OMIM:610475
Focal Facial Dermal Dysplasia Type I
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita ORPHA:79133
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
19Q13.11 Microdeletion Syndrome
Aplasia cutis congenita, Failure to thrive, Thin skin, Cachexia ORPHA:217346
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Milia, Aplasia cutis congenita ORPHA:79402
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:2348
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy ORPHA:3406
Cutis Laxa, Autosomal Recessive, Type Iiia
Failure to thrive, Thin skin OMIM:219150
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Thin skin OMIM:166210
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Pparg-Related Familial Partial Lipodystrophy
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:79083
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita OMIM:612138
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Death in childhood, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hype... OMIM:602579
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Dermal atrophy OMIM:617294
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin, Papule ORPHA:742
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Thin skin, Striae distensae, Obesity OMIM:219090
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Thin skin, Striae distensae OMIM:610489
Marshall-Smith Syndrome
Failure to thrive, Thin skin ORPHA:561
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Atypical scarring of skin ORPHA:1366
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, I... OMIM:613327
Acrofacial Dysostosis Syndrome Of Rodriguez
Thin skin OMIM:201170
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Short Syndrome
Small for gestational age, Thin skin OMIM:269880
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... ORPHA:79319
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin ORPHA:1643
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin OMIM:607823
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... ORPHA:71212
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Premature Aging Syndrome, Penttinen Type
Skin nodule, Thin skin, Dermal atrophy, Keloids, Failure to thrive OMIM:601812
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Ehlers-Danlos Syndrome, Periodontal Type, 1
Atrophic scars, Thin skin OMIM:130080
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp OMIM:619817
Focal Dermal Hypoplasia
Macule, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Thin skin, Dermal atrophy ORPHA:2092
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cafe-au-lait spot, Thin skin OMIM:617804
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy, Abnor... ORPHA:79474
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Thin skin OMIM:617602
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... ORPHA:79480
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, N... OMIM:618835
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrophic scars, Thin skin ORPHA:230851
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, N... OMIM:618839
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypergonado... OMIM:203800
Adult Syndrome
Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin OMIM:112250
Xeroderma Pigmentosum
Macule, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Thin skin, Dermal a... ORPHA:910
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Recon Progeroid Syndrome
Thin skin OMIM:620370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90154
Adams-Oliver Syndrome 4
Aplasia cutis congenita OMIM:615297
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, In... ORPHA:264580
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin ORPHA:449291
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Cafe-au-lait spot, Thin skin, Webbed neck, Failure to thrive OMIM:617506
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Thin skin ORPHA:1812
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Thin skin OMIM:615895
Huriez Syndrome
Aplasia/Hypoplasia of the skin ORPHA:384
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90153
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Thin skin ORPHA:238468
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin skin OMIM:614438
Kaufman Oculocerebrofacial Syndrome
Preauricular skin tag, Failure to thrive, Thin skin OMIM:244450
Lichen Planopilaris
Dermal atrophy, Papule, Hypopigmented skin patches, Skin ulcer ORPHA:525
Glass Syndrome
Thin skin OMIM:612313
Dermatosparaxis Ehlers-Danlos Syndrome
Thin skin ORPHA:1901
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... OMIM:608747
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... ORPHA:251393
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Adult Syndrome
Dermal atrophy, Thin skin OMIM:103285
Pituitary Stalk Interruption Syndrome
Death in infancy, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasi... ORPHA:95496
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Hypoglycemia, Flexion c... OMIM:609069
De Barsy Syndrome
Failure to thrive, Thin skin ORPHA:2962
Self-Improving Dystrophic Epidermolysis Bullosa
Aplasia cutis congenita, Atrophic scars, Skin erosion, Milia ORPHA:79411
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Hereditary Acrokeratotic Poikiloderma
Skin ulcer, Hypopigmented skin patches, Papule, Thin skin ORPHA:2907
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Stuve-Wiedemann Syndrome 1
Milia, Thin skin OMIM:601559
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... ORPHA:508
Rapp-Hodgkin Syndrome
Thin skin OMIM:129400
Osteogenesis Imperfecta, Type I
Thin skin OMIM:166200
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ja... OMIM:617049
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:100
Arterial Tortuosity Syndrome
Thin skin OMIM:208050
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Thin skin ORPHA:536467
Oculocerebral Hypopigmentation Syndrome, Cross Type
Thin skin ORPHA:2719
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1807
Meier-Gorlin Syndrome 1
Failure to thrive, Small for gestational age, Thin skin OMIM:224690
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Numerous nevi, Thin skin ORPHA:536471
Rett Syndrome
Failure to thrive, Cholecystitis, Increased serum leptin ORPHA:778
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thin skin OMIM:612199
Arterial Tortuosity Syndrome
Thin skin ORPHA:3342
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Decreased circulating ACT... ORPHA:199299
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, Failure to thrive, Thin skin, Obesity OMIM:615873
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Nodular Non-Suppurative Panniculitis
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Weight loss ORPHA:33577
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Adams-Oliver Syndrome 3
Aplasia cutis congenita OMIM:614814
Cushing Disease
Increased body weight, Skin ulcer, Truncal obesity, Abdominal obesity, Thin skin, Striae distensae ORPHA:96253
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Thin skin OMIM:151050
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Thin skin, Hypoplastic-absent sebaceous glands OMIM:305100
Linear Skin Defects With Multiple Congenital Anomalies 2
Aplasia cutis congenita, Asymmetric, linear skin defects OMIM:300887
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Failure to thrive, Thin skin OMIM:266920
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Molluscoid pseudotumors, Thin skin OMIM:225400
Flynn-Aird Syndrome
Cachexia, Dermal atrophy, Skin ulcer ORPHA:2047
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin ORPHA:2833
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Tooth Agenesis, Selective, 4
Thin skin OMIM:150400
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Cachexia, Weight loss ORPHA:1979
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Thin skin ORPHA:536545
Xeroderma Pigmentosum Variant
Dermal atrophy ORPHA:90342
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Skin erosion, Aplasia cutis congenita OMIM:609638
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Restrictive Dermopathy 1
Neonatal death, Skin erosion, Stillbirth, Thin skin OMIM:275210
Loeys-Dietz Syndrome
Atypical scarring of skin, Thin skin, Striae distensae ORPHA:60030
Ablepharon Macrostomia Syndrome
Thin skin ORPHA:920
Oculocerebrocutaneous Syndrome
Skin tags, Preauricular skin tag, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1647
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1787
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca... ORPHA:158684
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Small for gestational age, Thin skin OMIM:264090
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Small for gestational age, Thin skin OMIM:606721
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1553
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Skin ulcer, Weight loss, Truncal obesity, Abdominal obesity, Thin skin, St... ORPHA:99889
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Thin skin OMIM:129900
Warburg-Cinotti Syndrome
Thin skin OMIM:618175
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Slender build, Thin skin ORPHA:3455
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Lyme Disease
Skin nodule, Dermal atrophy ORPHA:91546
Adams-Oliver Syndrome
Aplasia cutis congenita, Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:974
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, D... ORPHA:404454
Hypermobile Ehlers-Danlos Syndrome
Atypical scarring of skin, Subcutaneous nodule, Thin skin ORPHA:285
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus OMIM:278700
Ablepharon-Macrostomia Syndrome
Thin skin OMIM:200110
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Skin erosion, Atypical scarring of skin, Nevus, Aplasia cutis congenita, Decre... ORPHA:89842
Werner Syndrome
Aplasia/Hypoplasia of the skin, Slender build, Skin ulcer ORPHA:902
Desmosterolosis
Failure to thrive, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:35107
Autosomal Recessive Multiple Pterygium Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Nevus, Webbed neck ORPHA:2990
Subacute Cutaneous Lupus Erythematosus
Annular cutaneous lesion, Dermal atrophy ORPHA:163525
Dysosteosclerosis
Aplasia/Hypoplasia of the skin ORPHA:1782
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Barber-Say Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:1231
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Vascular Ehlers-Danlos Syndrome
Macule, Subcutaneous nodule, Cigarette-paper scars, Melanocytic nevus, Thin skin ORPHA:286
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal atrophy ORPHA:69735
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:273
Hoyeraal-Hreidarsson Syndrome
Failure to thrive, Dermal atrophy ORPHA:3322
Dyskeratosis Congenita
Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Hypopigmented skin patches, Skin u... ORPHA:1775
Adams-Oliver Syndrome 5
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita OMIM:616028
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Atrophic scars, Aplasia cutis congenita, Failure to th... ORPHA:79396
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic pilosebaceous units OMIM:601345
Acute Radiation Syndrome
Dermal atrophy, Skin ulcer ORPHA:454831
Malignant Atrophic Papulosis
Dermal atrophy, Papule, Weight loss ORPHA:679
Cutis Marmorata Telangiectatica Congenita
Multiple cafe-au-lait spots, Skin erosion, Aplasia/Hypoplasia of the skin, Blue nevus ORPHA:1556
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Toriello-Lacassie-Droste Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:3339
Xeroderma Pigmentosum, Complementation Group E
Dermal atrophy OMIM:278740
Linear Skin Defects With Multiple Congenital Anomalies 3
Asymmetric, linear skin defects, Failure to thrive OMIM:300952
Xeroderma Pigmentosum, Variant Type
Dermal atrophy OMIM:278750
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dermal atrophy, Cachexia ORPHA:220295
Xeroderma Pigmentosum, Complementation Group C
Dermal atrophy OMIM:278720
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... ORPHA:79318
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the skin, Small for gestational age ORPHA:2909
Dermatomyositis
Aplasia/Hypoplasia of the skin, Skin ulcer, Papule, Weight loss ORPHA:221
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Dermal atrophy, Failur... ORPHA:2556
Kindler Syndrome
Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy OMIM:173650
Eec Syndrome
Aplasia/Hypoplasia of the skin, Nevus ORPHA:1896
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Aplasia/Hypoplasia of the skin, Milia ORPHA:2908
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the skin ORPHA:2658

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 Arrdc3

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 Arrdc3.

No publications found that use IMPC mice or data for Arrdc3.

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
Arrdc3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Arrdc3tm96590(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arrdc3tm96590(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter