Gene Summary

Name:
ADNP homeobox 2
Synonyms:
8430420L05Rik,  Zfp508

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ovary morphology Adnp2em3(IMPC)Tcp HET Late adult 0.00
decreased body length Adnp2em3(IMPC)Tcp HOM Early adult 5.12×10-06
small uterus Adnp2em3(IMPC)Tcp HET Late adult 0.00
abnormal lung morphology Adnp2em3(IMPC)Tcp HOM Early adult 0.00
abnormal thymus morphology Adnp2em3(IMPC)Tcp HET Late adult 0.00
decreased prepulse inhibition Adnp2em3(IMPC)Tcp HOM   Early adult 1.27×10-10
small adrenal glands Adnp2em3(IMPC)Tcp HET Late adult 0.00
preweaning lethality, incomplete penetrance Adnp2em3(IMPC)Tcp HOM   Early adult 0.00
absent adrenal gland Adnp2em3(IMPC)Tcp HET Late adult 0.00
enlarged lymph nodes Adnp2em3(IMPC)Tcp HET Late adult 0.00
abnormal liver morphology Adnp2em3(IMPC)Tcp HET Late adult 0.00
decreased circulating total protein level Adnp2em3(IMPC)Tcp HOM Early adult 1.22×10-05
decreased circulating serum albumin level Adnp2em3(IMPC)Tcp HOM Early adult 8.08×10-05
abnormal bone structure Adnp2em3(IMPC)Tcp HOM Early adult 7.44×10-05
short tibia Adnp2em3(IMPC)Tcp HOM Early adult 2.67×10-11
decreased exploration in new environment Adnp2em3(IMPC)Tcp HET Late adult 9.90×10-07
increased grip strength Adnp2em3(IMPC)Tcp HOM Early adult 1.16×10-08
abnormal sternum morphology Adnp2em3(IMPC)Tcp HET Late adult 0.00
small spleen Adnp2em3(IMPC)Tcp HET Late adult 0.00
abnormal uterus morphology Adnp2em3(IMPC)Tcp HOM Early adult 0.00
abnormal liver morphology Adnp2em3(IMPC)Tcp HOM Late adult 0.00
abnormal liver morphology Adnp2em3(IMPC)Tcp HOM Early adult 0.00
decreased bone mineral density Adnp2em3(IMPC)Tcp HOM Early adult 1.09×10-05
small kidney Adnp2em3(IMPC)Tcp HET Late adult 0.00
decreased bone mineral content Adnp2em3(IMPC)Tcp HOM Early adult 8.35×10-06
hyperactivity Adnp2em3(IMPC)Tcp HOM Early adult 5.64×10-05

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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.

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

20 Images

Histopathology

Images

33 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Histopathology

Images

7 Images

Eye Morphology

Images Ophthalmoscopy

30 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Immunophenotyping

Panel B FCS file(s)

1 Images

Immunophenotyping

Panel A FCS file(s)

1 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Human diseases caused by Adnp2 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 Adnp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Immunodeficiency 43
Hypoalbuminemia, Radial bowing, Decreased circulating beta-2-microglobulin level, Lung abscess, H... OMIM:241600
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Long thumb, Attention deficit hyperactivity disorder, Ac... OMIM:619151
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Congenital Disorder Of Glycosylation, Type Ij
Elevated circulating hepatic transaminase concentration, Micrognathia, Cryptorchidism, Aggressive... OMIM:608093
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Elevated c... OMIM:613752
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... ORPHA:2098
Refractory Celiac Disease
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma... ORPHA:398063
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Hepatosplenomegaly, Micr... ORPHA:1655
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu... ORPHA:1972
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... OMIM:619013
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo... OMIM:612965
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Pedal edema, Stillbirth OMIM:152800
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hepatomegaly, Recurrent lower respiratory tract infections, Hypoproteinemia, Clu... OMIM:226300
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Hypoplasia of the femoral head, Sal... OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Slc35A2-Cdg
Precocious puberty, Osteopenia, Aplasia/hypoplasia involving bones of the extremities, Elevated c... ORPHA:356961
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Alg6-Cdg
Hypoalbuminemia, Abnormality of the liver, Decreased LDL cholesterol concentration, Brachydactyly... ORPHA:79320
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Micrognathia, Hypocalcemia, Cryptorchidism, Splenom... OMIM:235255
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Hypoproteinemia ORPHA:1116
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased total bilirub... OMIM:603553
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Distal lower limb muscle weakness ORPHA:94124
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Exocrine pancreatic insufficiency, Abnormality of the female genitali... ORPHA:2315
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... OMIM:608104
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Recurrent lower respiratory tract infectio... ORPHA:86816
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit... ORPHA:2141
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Anorexia ORPHA:2494
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Clinodactyly of the 5th finger, Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Delayed puberty, Hypergonadotropic hypogonadism OMIM:300510
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Pleural effusion, Hypocalcemia, Hypoprotein... ORPHA:90362
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... ORPHA:93322
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly OMIM:300484
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Depression, Increased circulating cortisol level, Decreased circulating ACT... OMIM:219080
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... ORPHA:26793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogona... OMIM:614837
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Pes cavus, Hypercholesterolemia OMIM:607250
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis, Clubbing OMIM:614441
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the uter... OMIM:617690
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Abnormal rib morphology, Hypoplasia of the uterus, Bicorn... OMIM:601076
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Pleural effusion OMIM:603278
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... OMIM:618805
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Diffuse alveolar hemorrhage, Increased circulating ferritin concentration, Splen... OMIM:616050
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Neona... OMIM:251230
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Sho... OMIM:607143
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Splenomegaly, Hepatomegaly, Recurrent pharyngitis, Elevated cir... OMIM:308240
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased circulating cortisol level, Primary hypercortisolism, Emotional lability, A... OMIM:615830
Dengue Fever
Hepatomegaly, Hypoproteinemia ORPHA:99828
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Depression, Absence of secondary sex characteristics, Absence of pubertal deve... ORPHA:432
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Elevated c... OMIM:609441
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Immunodeficiency 32B
Pneumonia, Hypoalbuminemia, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Bronchi... OMIM:226990
Seckel Syndrome 7
Central hypothyroidism, Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia of the uterus, ... OMIM:614851
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Alg1-Cdg
Hypoalbuminemia, Limitation of joint mobility, Decreased liver function ORPHA:79327
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:612310
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Splenomeg... OMIM:615895
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Cognitive impairment, Increased circulating g... OMIM:615300
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Small hand, Hypoplastic... OMIM:235510
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anorexia,... ORPHA:507
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Slender long bone, Congenital adrenal hyperplasia, Increased serum testoste... ORPHA:96181
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hepatomegaly ORPHA:79319
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Clinodactyly, Abnormal fema... ORPHA:95699
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Fibronectin Glomerulopathy
Hypoalbuminemia, Pedal edema ORPHA:84090
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Omenn Syndrome
Pneumonia, Hepatomegaly, Hypoproteinemia, Splenomegaly OMIM:603554
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteric cyst ORPHA:314473
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea... ORPHA:367
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c... OMIM:617093
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Short tibia, Preaxial polydactyly, Septate vagina, Micrognathia, Absent gallbla... OMIM:617925
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepat... OMIM:619487
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Abn... ORPHA:88618
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Memory impairment, Depression, Increased circulating cortisol level, Pituitary adenoma, Neuroendo... ORPHA:189427
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Sa... ORPHA:79324
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Smith-Lemli-Opitz Syndrome
Small scrotum, Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia,... OMIM:270400
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Palmoplantar keratoderm... OMIM:242150
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... OMIM:616300
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... ORPHA:1667
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Absence of secondary sex characteristics, Absence of pubertal de... ORPHA:785
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Recurrent pneumonia, Recurrent respiratory infections, Acetabular dysplasia, Spl... OMIM:617303
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Mirage Syndrome
Hypospadias, Microphallus, Radial club hand, Decreased testicular size, Overlapping fingers, Adre... OMIM:617053
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Brachyd... ORPHA:247768
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Decreased cir... OMIM:615954
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Micrognathia, Hepatic steatosis, Pulmonary edema, Abnorm... OMIM:619991
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... ORPHA:199310
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Avian Influenza
Pneumonia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, P... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Hip dislocation OMIM:608776
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia OMIM:260450
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Small scrotum, Osteopenia, Elevated circulating hepatic transaminase concentrati... OMIM:613658
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Short digit, Micropenis, Bicornuate uterus OMIM:268650
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... ORPHA:1106
Satoyoshi Syndrome
Hypoplasia of the uterus, Genu valgum, Osteolytic defects of the phalanges of the hand, Brachydac... OMIM:600705
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hepatomegaly OMIM:602579
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Epididy... OMIM:137920
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Arachnodactyly... OMIM:616730
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Ovarian fibroma... ORPHA:314478
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Brachydactyly, Micropenis, Asplenia, Hypoplastic... OMIM:602361
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Respiratory tract infection, Peritonit... ORPHA:567548
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... ORPHA:167
Wilson Disease
Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos... OMIM:277900
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Hydatidiform Mole
Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Recurrent aspiration pneumonia OMIM:258865
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Peritonitis, Respiratory tract infection ORPHA:656
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Polycystic ovaries, Male pseudohe... ORPHA:90796
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:212065
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Attention deficit hyperactivity disorder, Vaginal atresia, H... OMIM:617914
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic ... ORPHA:14
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Pigmented Nodular Adrenocortical Disease, Primary, 2
Mental deterioration, Depression, Increased circulating cortisol level, Pigmented micronodular ad... OMIM:610475
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Leydig Cell Hypoplasia
Male hypogonadism, Absence of secondary sex characteristics, Breast aplasia, Hypoplasia of the Le... ORPHA:755
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Pelvic... OMIM:601186
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Osteomyelit... ORPHA:36234
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Pleural effusion, Hyperammonemia ORPHA:292
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Reni Syndrome
Hypoalbuminemia, Hypogonadism, Cryptorchidism, Hypertriglyceridemia, Micropenis OMIM:617575
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Un... OMIM:618419
Meckel Syndrome 12
Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus, Rocker bottom foot, Ureteral hypoplasia OMIM:616258
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Al Amyloidosis
Hypoalbuminemia, Abnormality of the liver, Increased circulating NT-proBNP concentration, Hepatom... ORPHA:85443
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Hypercalciuria, Adrenal hyperplasia, Glucocortocoid-insensitive prima... ORPHA:251274
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem... OMIM:258315
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Pleural effusion,... ORPHA:29073
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ... OMIM:222470
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pleural effusion, Lung ... ORPHA:67
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Dysphagia, Hypoalbuminemia ORPHA:2070
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypo... OMIM:600081
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplastic pelvis, Adrenal gland agenesis, Urethral atresia, Vaginal ... OMIM:273395
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hyponatre... ORPHA:247353
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal... ORPHA:54251
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Hepatic fibrosis, Postaxial polysyndactyly of foot, Preaxial hand polyd... OMIM:263520
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Preaxial foo... ORPHA:1988
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Recurrent upper respiratory tract infections, Hypomagnesemia, Micrognathia, Pleu... OMIM:618183
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Decreased liver function OMIM:617021
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Cholestasis, Humerus varus, Genu valgum, Pes planus, Abnormal... ORPHA:198
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... ORPHA:2795
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Hypoplastic labia majo... OMIM:119500
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Upper limb undergrowth, Preaxial hand polydactyly, ... OMIM:236680
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, H... ORPHA:37042
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Abnormal morphology of ... ORPHA:99429
Insulin-Resistance Syndrome Type B
Pneumonia, Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating lipid co... ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:618329
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Mental deterioration, Insulin-resistant diabetes mellitus, Decreased r... ORPHA:3464
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia, Nephrolithiasis ORPHA:369929
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Hypoplastic spleen, Adducted thumb ORPHA:89844
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper... ORPHA:231580
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal circulating estrog... ORPHA:90797
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Pleural effusion, Respiratory tract infection, Hydrocele testis,... ORPHA:567546
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice ORPHA:529808
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Adrenal gland agenesis, Sex reversal OMIM:611812
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplastic iliac wing, Jaundice, Foot polydactyly, Polycystic liver disease, Bile duct prolifera... OMIM:208500
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Hypoalbuminemia, Anoperineal fistula, Bronchitis, Hepatitis, Osteomalacia, Osteomyelit... OMIM:619381
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Clinodactyly, Decreased response to growth hormone stimulation te... OMIM:615866
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Cryptorchidism, Hyperactivity, Brachydactyly, Short metatarsal, Advanced o... OMIM:614613
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Meckel Syndrome 14
Hepatic fibrosis, Postaxial foot polydactyly, Microretrognathia, Micrognathia, Decreased calvaria... OMIM:619879
Omodysplasia 2
Broad femoral neck, Uterus didelphys, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm... OMIM:164745
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Neonatal death, Broad ... OMIM:619534
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o... ORPHA:3035
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Postaxial foot polydactyly, Radial deviation of finger, Abnormality of the ovar... OMIM:209900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Recurrent respiratory infections, Palmoplantar keratoderma, Hypernatremia OMIM:615508
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Micrognathia, Arachnodactyly, Camptodactyly, Hip dislocation OMIM:617729
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Uterus didelphys, Finger syndactyly, Abnormal lung lobation, Rudimentary fi... ORPHA:958
Hyperparathyroidism, Transient Neonatal
Thin ribs, Hyperparathyroidism, Fractured rib, Unilateral renal agenesis, Metaphyseal spurs, Femo... OMIM:618188
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Hand clenching, Joint contracture of the hand, Slender finger, Micrognathia, Pes... OMIM:251300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Pulmonary arteriovenous malformation, Hepatic arteriovenous malformatio... ORPHA:2929
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Neonatal death, Elevated circulating creatine kinase concentration OMIM:619055
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee... ORPHA:699
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Pleural effusion, Dysphagia OMIM:254900
Xfe Progeroid Syndrome
Hypoalbuminemia, Pes cavus, Elevated circulating hepatic transaminase concentration OMIM:610965
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Pleural effu... ORPHA:90363
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn... ORPHA:239
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Increased circulating dehydroepiandrost... OMIM:158330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Joint stiffness, Hepatosplenomegaly, Recurrent respiratory infections, Flexion c... ORPHA:505248
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Joint stiffness, Splenomegaly, Aggressive behavior,... OMIM:252920
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Pedal edema, Abnormal circulating albumin concentration ORPHA:86839
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Gaisböck Syndrome
Gout, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia,... ORPHA:90041
Fraser-Like Syndrome
Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hypoplasia, Auto... OMIM:613179
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Kawasaki Disease
Hypoalbuminemia, Plantar edema, Hepatitis, Cholecystitis, Jaundice, Arthritis, Recurrent pharyngi... ORPHA:2331
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Midclavicular hypoplasia, Broad thumb, Broad phalanx of the toes, Freckled genit... ORPHA:79076
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Neonatal death, Talipes, Talipes eq... OMIM:108720
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating cr... ORPHA:99826
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Sandal gap, Hypoplasia of proximal radius, Elbow flexion c... OMIM:210600
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Uterus didelphys, Rudimentary fibula, Elbow flexion contrac... OMIM:200980
Cushing Disease
Memory impairment, Depression, Increased circulating cortisol level, Increased urinary cortisol l... ORPHA:96253
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Craniosynostosis, Palmoplantar keratoderma ORPHA:79396
Campomelic Dysplasia
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Micrognathia... ORPHA:140
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... ORPHA:1788
Pierson Syndrome
Hypoproteinemia OMIM:609049
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Cryptorchidism OMIM:218550
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... ORPHA:2237
Juvenile Polyposis Syndrome
Hypoalbuminemia, Clubbing, Hypokalemia OMIM:174900
Peutz-Jeghers Syndrome
Uterine neoplasm, Bile duct polyp, Abnormality of the ureter, Ovarian cyst, Biliary tract abnorma... OMIM:175200
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypop... OMIM:164900
Leptospirosis
Hepatitis, Pulmonary hemorrhage, Pleural effusion, Elevated serum transaminases during infections... ORPHA:509
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmet... ORPHA:289176
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Cranioectodermal Dysplasia 1
Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened epiphysis, Hepatomegaly... OMIM:218330
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepatitis... OMIM:300755
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Hypoplastic labia majora, Hepatoblastoma, Sp... OMIM:269150
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Elevated circulating h... OMIM:614527
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Fibrochondrogenesis 1
Hypoplastic ischia, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Rhizomelia, ... OMIM:228520
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Peters-Plus Syndrome
Square pelvis bone, Cryptorchidism, Hypoplastic labia majora, Short palm, Hypoplasia of the uteru... OMIM:261540
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Renal salt wasting, Abnormal circulating dehydroepian... ORPHA:90794
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cryptorchidism, Talipes equinovarus, Pulmonary bulla, Finger joint hypermobility... OMIM:130050
Osteogenesis Imperfecta, Type Viii
Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ... OMIM:610915
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati... ORPHA:79500
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Splayed t... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Splayed t... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Splayed t... ORPHA:99228
Monosomy X
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Splayed t... ORPHA:99226
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis ORPHA:722
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Carpal synostosis, Camptodactyly of finger, Preaxial pol... ORPHA:90652
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Ovarian serous cystadenoma... ORPHA:276280
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Aplasia of the vagina, Short ribs, Rib fusion, Missing ribs... OMIM:271520
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Oeis Complex
Congenital hip dislocation, Hydroureter, Ambiguous genitalia, female, 11 pairs of ribs, Absent sc... OMIM:258040
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentr... ORPHA:79318
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the mandible, Finger syndactyly, Recurrent... ORPHA:2753
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Short toe, Congenital hypothyroidism, Cryptorchidis... ORPHA:709
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Aplasia o... OMIM:614083
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Cryptorchidism, ... ORPHA:1827
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hyperacti... OMIM:207800
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, 2-3 toe syndactyly, Apla... OMIM:618280
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Cryptorchidism, Fibular hypoplasia, Short rib... ORPHA:3144
Tibial Hemimelia
Absent tibia OMIM:275220
Wolf-Hirschhorn Syndrome
Micrognathia, Cryptorchidism, Radioulnar synostosis, Talipes equinovarus, Short hallux, Motor ste... OMIM:194190
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:614748
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Aplasia of the vagina, Joint hypermobility, Postaxial polydactyly, Aplasia of the u... ORPHA:457284
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Ulbright-Hodes Syndrome
Thin ribs, Abnormal penis morphology, Clitoral hypertrophy, Renal hypoplasia, Abnormal forearm bo... ORPHA:3404
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Cryptorchidism, ... OMIM:107480
Charge Syndrome
Bifid femur, Short thumb, Hand monodactyly, Absent radius, External genital hypoplasia, Micrognat... OMIM:214800
Kinsship Syndrome
Osteopenia, Bruxism, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislo... OMIM:619297
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving bones of the skull, Abnormal reproductive system morphology, Bifid u... ORPHA:1521
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia... OMIM:256520
Limb-Mammary Syndrome
Toe syndactyly, Absent nipple, Oligodactyly, Breast aplasia, Aplasia of the ovary, Aplasia of the... ORPHA:69085
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Pedal edema ORPHA:75565
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Prominent fingertip pads, Sandal gap, Dislocated radial head, Short distal ... OMIM:135900
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Sclerosis of skull ba... OMIM:300373
Exstrophy-Epispadias Complex
Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Bifid scrotum, Horseshoe kidne... ORPHA:322
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Fatigable weakness of skeletal muscles, M... ORPHA:284339
Coffin-Lowry Syndrome
Bifid sternum, Uterine prolapse, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing,... OMIM:303600
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomega... ORPHA:2729
Craniorachischisis
Bifid sternum ORPHA:63260
Loeys-Dietz Syndrome
Uterine rupture, Camptodactyly of finger, Micrognathia, Joint hypermobility, Arachnodactyly, Pes ... ORPHA:60030
Pallister-Killian Syndrome
Small scrotum, Small hand, Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Broad foot, ... OMIM:601803
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Pulmonary artery aneurysm, Uterine rupture, Cystocele, Cryptorchidism... ORPHA:286
Norrie Disease
Self-injurious behavior, Uterine rupture, Cryptorchidism, Attention deficit hyperactivity disorde... ORPHA:649

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.

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH pathological process term hypoplasia Adnp2em3(IMPC)Tcp HOM Late adult
Bone marrow - MPATH pathological process term hypoplasia Adnp2em3(IMPC)Tcp HOM Early adult
Lymph node - MPATH pathological process term neoplasia Adnp2em3(IMPC)Tcp HOM Early adult

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 Adnp2.

No publications found that use IMPC mice or data for Adnp2.

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
Adnp2em3(IMPC)Tcp Indel Mice, Tissue
Adnp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Adnp2tm445498(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adnp2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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