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Gene: Per2 MGI:1195265

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Gene Summary

Name:
period circadian clock 2
Synonyms:
mPer2

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.34×10-05
abnormal behavior Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.94×10-05
abnormal coat/hair pigmentation Per2tm1a(EUCOMM)Hmgu HOM Early adult 1.51×10-06
increased lean body mass Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.02×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Per2 mutations

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

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

The table below shows human diseases associated to Per2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Advanced Sleep Phase Syndrome, Familial, 1
OMIM:604348

The table below shows human diseases predicted to be associated to Per2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Thick lower lip vermilion, Squamous cell carcinoma ORPHA:1221
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Basal cell carcinoma, Cylindroma, Multiple cuta... ORPHA:79493
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Abnormal dental morphology, Cryptorchidism, Obesity, Micropenis, Hypogonadis... ORPHA:85274
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Bardet-Biedl Syndrome 5
External genital hypoplasia, Obesity, Hypogonadism, Cognitive impairment, Micropenis OMIM:615983
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... OMIM:300148
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Narcolepsy 3
Narcolepsy OMIM:609039
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Leptin Deficiency Or Dysfunction
Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size OMIM:614962
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue ORPHA:314652
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Narcolepsy 1
Narcolepsy OMIM:161400
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injurious behavior, Co... OMIM:613670
11Q22.2Q22.3 Microdeletion Syndrome
Thin upper lip vermilion, Short attention span, High, narrow palate, Obesity, Compulsive behavior... ORPHA:444002
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... OMIM:615300
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
48,Xxyy Syndrome
Hypoplasia of penis, Abnormal repetitive mannerisms, Ataxia, Abnormal dental enamel morphology, O... ORPHA:10
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Cryptorchidism, Synophrys, Generalized joint laxity, Increased body weight, Thin ver... ORPHA:589905
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Everted upper lip vermilion, Shyness, Overweight, Generalized joint laxity, Wide m... ORPHA:280763
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Obe... OMIM:615993
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Irregular menstruation, Obesity, Advanced ossification of carpal bo... OMIM:616831
Chung-Jansen Syndrome
Joint hypermobility, Impulsivity, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, Thin v... OMIM:617991
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Mehmo Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Obesity, Downturned corners of ... ORPHA:85282
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hypopigmentation of hair, Hyperactivity, Ataxia, Broad-based gait, Obesity,... ORPHA:411515
Obesity And Hypopigmentation
Red hair, Obesity OMIM:620195
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Narcolepsy 7
Narcolepsy OMIM:614250
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Al Amyloidosis
Renal insufficiency, Proteinuria, Xerostomia, Weight loss, Macroglossia, Nephrotic syndrome, Albu... ORPHA:85443
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase... ORPHA:398069
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation ORPHA:79476
Schaaf-Yang Syndrome
Abnormality of the philtrum, Failure to thrive in infancy, Impulsivity, Cryptorchidism, Inability... OMIM:615547
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism, Obesity, Large for gestational age OMIM:617119
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Ataxia, High, narrow palate, Unsteady gait, Obesity, Loss of amb... OMIM:618124
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary amenorrhea, Micrope... OMIM:610628
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, ... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Aggressive behavior, Large for gestational age, Synophrys, Self-injurious behavior, Agita... OMIM:616116
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, Renal cyst, H... OMIM:615982
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Obesity, Decreased fertility, Low posterior hairline, High palate, Hypogo... ORPHA:2233
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries,... ORPHA:2298
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Igg4-Related Submandibular Gland Disease
Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,... ORPHA:449432
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Po... ORPHA:177910
48,Xxxy Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology,... ORPHA:96263
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Self-mutilation, Cranial hyper... ORPHA:457240
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Obesity, Oligozoospermia OMIM:615703
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity ORPHA:71526
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Recurrent fractures, Cry... ORPHA:478
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Methionine Malabsorption Syndrome
White hair, Blue irides, Positive ferric chloride test OMIM:250900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Short attention span, Hypopigmentation of hair, Hyperactivity, ... ORPHA:98794
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Aggressive... OMIM:614963
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Protruding tongue, Abnormal eating behavior, ... ORPHA:411511
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Anorexia, Abnormal... ORPHA:330015
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Recurrent fractures, Reduced circulating prolactin concentration, ... ORPHA:2235
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Wilson Disease
Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, W... ORPHA:905
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Flexion contracture, Obesity, Choreoathetosis, High palate, Shuffling gait,... OMIM:300055
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Pituitary adenoma, Primary hyperparathyroidism, Irreg... ORPHA:189427
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... ORPHA:177901
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, High, narrow palate, Obes... ORPHA:2183
Temple Syndrome
Decreased testicular size, Small for gestational age, Overweight, Cryptorchidism, Precocious pube... OMIM:616222
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... ORPHA:98793
Bardet-Biedl Syndrome 9
Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia OMIM:615986
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... ORPHA:177904
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior ORPHA:329249
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Generalized hirsutism ORPHA:2221
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the philtrum, Recurrent fractures, Camptodactyly of finger, C... ORPHA:3409
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Overweight, Bilateral cryptorchidism, Cryptorchidism, S... OMIM:617796
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Secondary amenorrhea, Polycystic ovaries... ORPHA:3085
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Wagro Syndrome
Dental crowding, Proteinuria, Nephroblastoma, Aggressive behavior, Multiple exostoses, Obesity, A... OMIM:612469
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Polyphagia, Obesity, Tall stature OMIM:618406
Benign Schwannoma
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... ORPHA:252164
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias ORPHA:141333
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Obesity, Decreased fertility, Hypogonadism... ORPHA:2234
Angelman Syndrome
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Protruding tongue, Aggres... ORPHA:72
Radio-Tartaglia Syndrome
Dental crowding, High, narrow palate, Synophrys, Low anterior hairline, High palate, Short philtr... OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low... OMIM:300860
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Neoplasm, Nodular goi... ORPHA:64744
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent med... OMIM:300602
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Prader-Willi Syndrome
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... OMIM:176270
Fg Syndrome Type 1
Dental crowding, Generalized joint laxity, Fused teeth, High palate, Compulsive behaviors, Abnorm... ORPHA:93932
15Q24 Microdeletion Syndrome
Joint laxity, Broad eyebrow, Small for gestational age, Decreased response to growth hormone stim... ORPHA:94065
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... ORPHA:2363
Smith-Magenis Syndrome
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Velopharyngeal insuffic... OMIM:182290
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Hyperactivity, Broad-based gait, Camptodactyly of finger, Cachexia, Abnormal... ORPHA:85293
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Thin upper lip vermilion, Elbow hypertrichosis, Ataxia, Joint hypermobility, Aggressive behavior,... OMIM:620191
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... ORPHA:79477
Down Syndrome
Joint laxity, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower... ORPHA:870
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Cleft palate, Primary amenorrhea, Hypoplasia ... ORPHA:247768
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Curly hair, Hyperactivity, Hypospadias, Large for gestational age, Cryptorch... ORPHA:457485
Tatton-Brown-Rahman Syndrome
Joint hypermobility, Aggressive behavior, Cryptorchidism, Deep philtrum, Patent ductus arteriosus... ORPHA:404443
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Male infertility, Osteopenia, Hypergonadotropic ... ORPHA:91
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Precocious puberty, Cryptorchidism, Pyloric stenosis, Obesity, Cleft p... ORPHA:96184
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... ORPHA:66628
Melioidosis
Foot osteomyelitis, Osteoarthritis, Abnormal parotid gland morphology, Septic arthritis, Prostati... ORPHA:31202
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... ORPHA:179494
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Hypospadias, Cryptorchidism, Obesity, Advanced ossification of carpal bones, Red h... OMIM:614613
Atkin-Flaitz Syndrome
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro... ORPHA:1193
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... OMIM:618156
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity OMIM:615985
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Epiphyseal stippling, Attention deficit hyperac... OMIM:274300
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Flexion contracture, Obsessive-comp... ORPHA:500055
Kleefstra Syndrome 1
Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth, Cryptorchidism, Synoph... OMIM:610253
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Broad-based gait, Increased body weight, Ma... OMIM:614450
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Failure to thrive, Multiple cafe-au-lait spots ORPHA:100
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Dysmetria, Short philtrum, High palate, Abnormal repetitive mannerisms, A... ORPHA:96121
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Osteoporosis, Obesity, Pseudohypoparathyroidism, Subcutaneous ossifica... OMIM:103580
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali... ORPHA:79078
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Increased body weight, Progressive neurologic deterioration ORPHA:276608
Sarcoidosis, Susceptibility To, 1
Anorexia, Bone cyst, Enlarged lacrimal glands, Hypercalciuria, Weight loss, Arthritis, Inflammati... OMIM:181000
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, External ge... ORPHA:177907
Sotos Syndrome
Joint laxity, Aggressive behavior, Sparse eyebrow, High, narrow palate, Cryptorchidism, Patent du... OMIM:117550
Kleefstra Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Downturned corners of mou... ORPHA:261494
13Q12.3 Microdeletion Syndrome
Thin upper lip vermilion, Hyperactivity, Cryptorchidism, Obesity, Oligodontia, Camptodactyly, Fai... ORPHA:412035
Macrocephaly/Autism Syndrome
Joint laxity, Short attention span, Penile freckling, Large for gestational age, Obesity, Hydroce... OMIM:605309
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... ORPHA:2965
Igg4-Related Kidney Disease
Sterile pyuria, Lymphocytoma cutis, Tubulointerstitial nephritis, Abnormal ureter morphology, Sia... ORPHA:449395
Senior-Loken Syndrome 9
Osteopenia, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, ... OMIM:616629
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogonadism, Cognitiv... OMIM:615994
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hypogonadism, Low uri... OMIM:612462
Insulinoma
Primary hyperparathyroidism, Increased body weight, Neoplasm of the adrenal gland, Transient glob... ORPHA:97279
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Ganglioneuroblastoma, Aggressive behavior,... ORPHA:293987
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Craniosynostosis, Pyloric stenosis, Obesity, Cleft palate, Choreoat... ORPHA:261197
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Esophageal varix, Increased body weight, Irregular menstruation, Polycystic ovaries... ORPHA:264580
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity, Hyperbilirubinemia OMIM:609734
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia ORPHA:363741
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Protruding tongue, Obesity, Wide mouth, Macroglossia, Pr... OMIM:105830
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Bdv Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Micropenis OMIM:619326
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Irregular menstruation, Increased body weight, Osteoporosis, Polycystic ovaries, Re... ORPHA:79240
Congenital Myopathy 9A
Akinesia, Cryptorchidism, Obesity, Tongue fasciculations OMIM:618822
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Osteoporosis, Nephrolithiasis, Obesity, Abdominal obesity, Oligomenorrhea, Hir... OMIM:219090
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Obesity, Primary amenorrhea OMIM:600955
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Cryptorchidism, Sy... OMIM:616078
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea... ORPHA:79444
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Igg4-Related Ophthalmic Disease
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Lymphoma, Neoplasm of ... ORPHA:449563
Carney Complex
Neoplasm of the stomach, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, N... ORPHA:1359
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Progressive neurologic deterioration, Large for gestational age, Increased body weig... ORPHA:263455
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Neoplasm, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive manne... ORPHA:353281
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased body weight ORPHA:890
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Distal Triplication 15Q
Abnormal external genitalia, Craniosynostosis, Large for gestational age, Birth length greater th... ORPHA:314588
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea... ORPHA:79443
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic... ORPHA:96253
Adrenocortical Carcinoma
Increased urinary cortisol level, Adrenocortical carcinoma, Adrenocorticotropic hormone deficienc... ORPHA:1501
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... OMIM:615873
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Macular edema,... ORPHA:247691
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Recurre... ORPHA:251004
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am... ORPHA:1772
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, High, narrow palate, Synophrys, Short philtrum, High palate, Tics, Compulsive beha... OMIM:619475
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Proportionate tall stature, Vesicoureteral reflux, Micropeni... ORPHA:96149
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Narcolepsy, Mental deteriorati... ORPHA:646
Bardet-Biedl Syndrome 1
Decreased testicular size, Dental crowding, Aganglionic megacolon, Ataxia, High, narrow palate, O... OMIM:209900
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Ulnar-Mammary Syndrome
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Pyloric stenosis, Obesity, Renal hy... ORPHA:3138
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Sheehan Syndrome
Dyspareunia, Decreased female libido, Reduced circulating prolactin concentration, Sparse axillar... ORPHA:91355
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Adrenal hyperplasia, Osteoporosis, Increased body weight, Hirsutism OMIM:615830
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Gait ataxia, Widely spaced teeth, Short philtrum, Sparse hair, Highly ... OMIM:280000
African Trypanosomiasis
Alopecia, Renal insufficiency, Urinary incontinence, Akinesia, Abnormality of the menstrual cycle... ORPHA:3385
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Renal cyst, Subependymal giant-cell astrocytoma, Pheoc... ORPHA:805
Blau Syndrome
Clear cell renal cell carcinoma, Camptodactyly of finger, Limitation of joint mobility, Xerostomi... ORPHA:90340
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, Rh... ORPHA:77301
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Curly hair, Sparse scalp hair, Hyperactivity, Joint laxity, Large for gestational ... OMIM:607721
1P21.3 Microdeletion Syndrome
Aggressive behavior, Shyness, Abnormal eating behavior, Obesity, Wide mouth, Self-injurious behav... ORPHA:293948
Meningioma
Urinary incontinence, Reduced circulating prolactin concentration, Neoplasm of the anterior pitui... ORPHA:2495
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Osteoporosis, Increased body weight, Abdominal obesity, Macrono... OMIM:615954
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Abnormal repetitive mannerisms, Generalized hirsutism, Abnormali... ORPHA:1606
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Co... OMIM:615989
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Tented upper lip vermilion, Small scrotum, External genital hypoplasia, Cryptorchidis... OMIM:614231
Williams Syndrome
Osteopenia, Hypoplasia of penis, Rectal prolapse, Dysmetria, Nephrocalcinosis, Compulsive behavio... ORPHA:904
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone develop... ORPHA:99413
Turner Syndrome
Osteopenia, Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone develop... ORPHA:881
Mosaic Monosomy X
Osteopenia, Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone develop... ORPHA:99228
Monosomy X
Osteopenia, Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone develop... ORPHA:99226
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, High palate, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive ma... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, High palate, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive ma... ORPHA:353277
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Urinary incontinence, Narcolepsy, Mental deterioration, Memory impairment ORPHA:314404
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Small scrotum, Widely-spaced maxillary central incisors, High palate,... OMIM:309580
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, N... OMIM:267000
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Kikuchi-Fujimoto Disease
Alopecia, Ataxia, Anorexia, Oral ulcer, Weight loss, Enlargement of parotid gland ORPHA:50918
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Small for gestational age, Abnormality of iron homeostasi... ORPHA:84064
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Increased body weight ORPHA:94086
Pallister-Hall Syndrome
Small scrotum, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Micropenis, Bi... ORPHA:672
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Weight loss, Melanocytic nevus, Long... ORPHA:79430
Chédiak-Higashi Syndrome
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... ORPHA:167
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Leiomyosarcoma, Neoplasm, Vesicoureteral reflux,... ORPHA:116
Sarcoidosis
Alopecia, Renal insufficiency, Abnormal reproductive system morphology, Bone cyst, Enlarged lacri... ORPHA:797
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Vici Syndrome
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Ocular al... OMIM:242840
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial ... OMIM:219800
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation ORPHA:2719
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Abnormal eyelas... OMIM:619488
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon... ORPHA:64
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... ORPHA:818
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Advanced Sleep Phase Syndrome, Familial, 1
OMIM:604348

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 Per2

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 Per2.

No publications found that use IMPC mice or data for Per2.

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
Per2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Per2tm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Per2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Per2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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