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Gene: Fam83d MGI:1919128

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Gene Summary

Name:
family with sequence similarity 83, member D
Synonyms:
2310007D09Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
decreased startle reflex Fam83dem1(IMPC)Ccpcz HOM Early adult 6.29×10-09
abnormal thymus morphology Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
decreased prepulse inhibition Fam83dem1(IMPC)Ccpcz HOM Early adult 1.30×10-05
increased fasting circulating glucose level Fam83dem1(IMPC)Ccpcz HOM Early adult 8.54×10-06
anophthalmia Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged testis Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating aspartate transaminase level Fam83dem1(IMPC)Ccpcz HOM Early adult 1.93×10-05
enlarged thymus Fam83dem1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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X-ray

XRay Images Hind Leg and Hip

34 Images

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XRay Images Skull Lateral Orientation

17 Images

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XRay Images Forepaw

17 Images

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XRay Images Whole Body Lateral Orientation

17 Images

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Human diseases caused by Fam83d 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 Fam83d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Bicornuate uter... OMIM:615524
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Partington Syndrome
Macroorchidism, Limb dystonia ORPHA:94083
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Fragile X Syndrome
Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism OMIM:300624
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,... OMIM:613885
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Tremor, Macroorchidism ORPHA:3077
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Tremor, Dystonia, Choreoathetosis, Male hypogonadism, Macroorchidism OMIM:300055
Trisomy 13
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Abnormal... ORPHA:3378
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic ki... OMIM:601186
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Crypto... ORPHA:77298
47,Xyy Syndrome
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... ORPHA:8
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Hypospadias, Mitral valve prolapse, Macroorchidism OMIM:618874
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Unicornuate uterus OMIM:600776
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter... ORPHA:90790
Trisomy 1Q
Congenital megaureter, Anophthalmia, Ventricular septal defect, Hydronephrosis, Small scrotum, Am... ORPHA:261344
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri... OMIM:610125
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Elevated circulating alpha-fetoprotein concentration ORPHA:180229
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Glucose intolerance, Azoospermia, Car... OMIM:235200
Mccune-Albright Syndrome
Renal phosphate wasting, Pancytopenia, Abnormal testis morphology, Precocious puberty, Hyperphosp... ORPHA:562
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defec... OMIM:618652
Hydrolethalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:2189
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Walker-Warburg Syndrome
Microphthalmia, Abnormal circulating creatine kinase concentration, Anophthalmia, Hypoplasia of p... ORPHA:899
Congenital Toxoplasmosis
Microphthalmia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Cardiomegaly ORPHA:858
Cockayne Syndrome Type 2
Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90322
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:139471
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, N... ORPHA:90674
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... ORPHA:91
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect, Macroorchidism OMIM:309520
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:600649
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopath... OMIM:212140
Trisomy 20P
Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Cryptorchidism, Mac... ORPHA:261318
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hepatomegaly, Fatigable weakness, Elevated circulating creatine kinase con... ORPHA:42
Cockayne Syndrome Type 1
Hepatomegaly, Anemia, Anophthalmia, Tremor, Cryptorchidism, Increased blood urea nitrogen, Protei... ORPHA:90321
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Dystonia, Car... OMIM:614702
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Cerebrooculonasal Syndrome
Anophthalmia, Hypoplasia of penis ORPHA:66625
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Holoprosencephaly
Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Panhypopituitarism, ... ORPHA:2162
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Splenomegaly, Conjugated hyperbilirubin... OMIM:269920
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Meckel Syndrome
Situs inversus totalis, Microphthalmia, Ureteral duplication, Accessory spleen, Anophthalmia, Pan... ORPHA:564
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,... OMIM:608800
Anencephaly 2
Anophthalmia OMIM:619452
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ... OMIM:147250
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Optic nerve hypoplasia, Hyperammonemia, Secundum atrial septal defect, Cardiom... OMIM:620609
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... OMIM:300280
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Truncus arter... ORPHA:2538
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry... ORPHA:2250
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Testicular atrophy, ... ORPHA:465508
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Cryptorchidism, Aniridia, Anophthalmia ORPHA:1101
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Tricuspid valve prolapse, Microphthalmia, Hypospadias, Abnormal... ORPHA:2556
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Tremor, Exaggerated startle response, Hydronephrosis, Atrial septal defect,... OMIM:620327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp... OMIM:262190
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatomegaly, Decreased circulating carnit... OMIM:201475
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Urinary excretion o... OMIM:256550
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci... OMIM:618886
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Dystonia, Cardiomegaly, Hypoglycemia, Choreoathetosi... ORPHA:391428
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Transient ... OMIM:255120
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Pancreatic ... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Anterior pituitary hypoplasia, Renal hypoplasia, Optic nerve aplasia, Small scrotum... ORPHA:264200
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes ORPHA:563609
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Ca... ORPHA:1359
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia,... ORPHA:228308
Vacterl With Hydrocephalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:3412
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular ... OMIM:601005
Charge Syndrome
Microphthalmia, Pulmonic stenosis, Dysplastic tricuspid valve, Lymphopenia, Decreased response to... OMIM:214800
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous... ORPHA:261534
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating creatinine concentration, Ureteral duplication, Hepatomegal... OMIM:608836
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... OMIM:618858
Charge Syndrome
Microphthalmia, Abnormal aortic valve morphology, Anterior hypopituitarism, Anophthalmia, Labial ... ORPHA:138
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Dystonia, Macroorchidism, Unilateral renal hypoplasia OMIM:619950
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Leukopenia, Abnormal circulating f... ORPHA:2298
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
Fibular Hemimelia
Abnormal heart morphology, Thrombocytopenia, Anophthalmia ORPHA:93323
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Vaginal atresia, Anophthalmia OMIM:248450
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Ventricular septal defect, Pulmonic sten... OMIM:300166
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Sickle Cell Disease
Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenome... OMIM:603903
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Ren... OMIM:219000
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... OMIM:606176
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Mogs-Cdg
External genital hypoplasia, Hepatomegaly, Dystonia, Thrombocytopenia, Hepatosplenomegaly, Left v... ORPHA:79330
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Lympha... OMIM:602782
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect... OMIM:616897
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux... OMIM:130650
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ... ORPHA:744
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Nephrotic syndr... OMIM:617713
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Exaggerated startle response, Increased urinary N-acetylgluco... OMIM:268800
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi... OMIM:610829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Microphthalmia, Transposition of the great arteries, Elevated circulating c... OMIM:253800
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal physiology, Card... OMIM:266500
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Proboscis Lateralis
Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve... ORPHA:141099
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Hypoplastic male external genitalia, Anophthalmia OMIM:605627
Fraser Syndrome
Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor... ORPHA:2052
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Joubert Syndrome 21
Splenomegaly, Renal cyst, Anophthalmia OMIM:615636
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Hyperbilirubinemia, Abnormality of the testis size, Renal cyst, Abnor... ORPHA:400
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Multiple Mitochondrial Dysfunctions Syndrome 7
Exaggerated startle response, Partial atrioventricular canal defect, Hypernatremia, Dystonia, Hyp... OMIM:620423
Sandhoff Disease, Infantile Form
Mitral valve prolapse, Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Elevated circulating creatine kinase concentration, Hydronephrosis, Cardiomegaly, H... OMIM:614921
Focal Dermal Hypoplasia
Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp... OMIM:305600
Glycogen Storage Disease Ii
Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circu... OMIM:232300
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Stiff-Person Syndrome
Diabetes mellitus, Opisthotonus, Anemia, Exaggerated startle response OMIM:184850
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Histiocytoid Cardiomyopathy
Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cardiomegaly, Hypoglycemia, Ventric... ORPHA:137675
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly OMIM:105210
Aspartylglucosaminuria
Splenomegaly, Aspartylglucosaminuria, Macroorchidism, Hepatomegaly ORPHA:93
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, U... OMIM:618278
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Aspartylglucosaminuria, Macroorchidism, Neutropenia OMIM:208400
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Microphthalmia With Limb Anomalies
Microphthalmia, Cryptorchidism, Horseshoe kidney, True anophthalmia ORPHA:1106
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal... ORPHA:116
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... ORPHA:96191
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Female hypogonadism, Renal hypoplasia, Sm... OMIM:607932
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Thrombocytopenia, Opisthotonus, Splenomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:608013
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leu... OMIM:619991
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Cardiomegaly, Elevated circulating C-reactive protein concentration, Congen... OMIM:620376
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Cryptorchidism, Hepatomegaly OMIM:618143
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Perimembranous ventricular septal defect, Maternal diab... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Tremor, Left ventricular noncompaction, Ventricular septal defect, Left ven... OMIM:300967
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular... ORPHA:268
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ... OMIM:261740
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Dystonia, Splenomegaly, Cardiomegaly, Olig... OMIM:230000
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hypotriglyceridemia, Hyperbilirubi... ORPHA:14
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Precocious puberty, Dy... ORPHA:845
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Mitral valve prolapse, Left ... OMIM:245600
Combined Oxidative Phosphorylation Deficiency 58
Hyperalaninemia, Exaggerated startle response, Hypoglycemia, Hyperprolinemia, Lacticaciduria OMIM:620451
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Cardiomyopathy, Exaggerated startle response, H... ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Anemia, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal def... ORPHA:438213
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri... OMIM:600001
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Renal cyst, Cryptorchidism, Supernumerary nipple OMIM:113620
Fucosidosis
Mucopolysacchariduria, Hepatomegaly, Cardiomegaly ORPHA:349
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Mucopolysacchariduria, Abnormal mitral valve morp... ORPHA:581
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Tremor, Hypertrophic cardiomyop... ORPHA:51
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosi... ORPHA:904
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ... OMIM:252500
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis OMIM:208000
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Splenic cyst, Patent foramen ovale, Dystonia, Cardiomegaly, Cryptorchidism OMIM:620371
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response OMIM:617864
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Ele... OMIM:256040
Yunis-Varon Syndrome
Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosi... ORPHA:3472
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Hepatomegaly, Elevated circulating creatine kinase con... ORPHA:365
Microphthalmia, Syndromic 1
Microphthalmia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasia, Bicuspid aortic valve, ... OMIM:309800
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Grade III vesicoureteral ref... OMIM:619522
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Abnormal cardiac septum morpho... ORPHA:97297
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Craniofacial Microsomia 1
Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Ventricular hypertrophy, Medullary nephrocalcinosis, Hyperphosphaturia,... ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250

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 Fam83d

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 Fam83d.

No publications found that use IMPC mice or data for Fam83d.

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
Fam83dem1(IMPC)Ccpcz Exon Deletion Mice
Fam83dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam83dtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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