Gene Summary

Name:
chloride intracellular channel 5
Synonyms:
nmf318,  5730531E12Rik

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
decreased bone mineral density Clic5tm1b(EUCOMM)Hmgu HOM   Early adult 8.66×10-05
decreased startle reflex Clic5tm1b(EUCOMM)Hmgu HOM Early adult 7.21×10-05
head bobbing Clic5tm1b(EUCOMM)Hmgu HOM Early adult 8.36×10-10
decreased prepulse inhibition Clic5tm1b(EUCOMM)Hmgu HOM Early adult 4.39×10-30

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

9 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Clic5 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 Clic5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042

The table below shows human diseases predicted to be associated to Clic5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Hearing impairment, Stage 5 chronic kidney disease, Renal insu... OMIM:620536
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin... ORPHA:324575
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... ORPHA:276556
Autism
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:607373
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Gait disturbance, Sensorineural hearing impairment ORPHA:2820
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Reduced social reciprocity, Aggressive behavior, Polyphagia ORPHA:329249
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Pick Disease Of Brain
Diminished motivation, Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Apathy, E... OMIM:172700
Huntington Disease
Depression, Decreased body mass index, Oral-pharyngeal dysphagia, Hostility, Difficulty walking, ... ORPHA:399
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Trichomegaly
Cataract OMIM:190330
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Distal sensory impairment, Se... OMIM:614455
Hereditary Central Diabetes Insipidus
Vomiting, Polydipsia, Fever, Diarrhea, Irritability, Lethargy, Weight loss, Diabetes insipidus ORPHA:30925
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria, Sensorineur... OMIM:620320
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hearing impairment, Lar... OMIM:617731
Kleine-Levin Syndrome
Depression, Polydipsia, Fever, Abnormal eating behavior, Irritability, Sweet craving, Polyphagia,... ORPHA:33543
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy... ORPHA:369873
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Cerebral cortical atrophy, Hearing impairment, Stage 5 chroni... OMIM:618349
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:95717
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, EEG abnormality, Agitation OMIM:617171
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Pediatric-Onset Graves Disease
Diarrhea, Nausea and vomiting, Emotional lability, Polyphagia, Hepatomegaly, Jaundice, Increased ... ORPHA:525731
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Graves Disease
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Irritability, Po... OMIM:275000
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Poor s... ORPHA:2198
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Somatic sensory dysfunctio... ORPHA:320401
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Diarrhea... OMIM:619802
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Adult Idiopathic Neutropenia
Fever, Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Mo... ORPHA:2688
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impairment, Prot... ORPHA:66631
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... ORPHA:100973
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300495
Classic Galactosemia
Hepatic failure, Depression, Elevated circulating hepatic transaminase concentration, Diarrhea, H... ORPHA:79239
Central Diabetes Insipidus
Depression, Polydipsia, Failure to thrive, Fever, Diarrhea, Nausea and vomiting, Lethargy, Weight... ORPHA:178029
Immunodeficiency 32B
Failure to thrive, Fever, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Mon... OMIM:226990
Severe Canavan Disease
Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Inability... ORPHA:314911
Frontotemporal Dementia
Diminished motivation, Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Apathy OMIM:600274
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Failure to thrive, Anorexia ORPHA:79283
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, EEG abnormali... OMIM:239500
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Recurrent hypoglycemia, Hypothermia, Lipid accumulation in hepatocytes, Weight loss, Ap... ORPHA:20
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Folate Malabsorption, Hereditary
Ataxia, Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsor... OMIM:229050
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Emotion... OMIM:614963
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Feeding difficulties in infancy, H... ORPHA:411515
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Meningococcal Meningitis
Hypotension, Fever, Shock, Hypothermia, Petechiae, Irritability, Increased circulating procalcito... ORPHA:33475
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Anorexia, Nausea and vomiting, Splenomegaly, Hepatomegaly, Let... ORPHA:79312
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Fever, Abnormal b... ORPHA:319218
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Riboflavin Deficiency
Lethargy, Hypothermia, Hypoglycemia, Poor suck OMIM:615026
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Short Stature Due To Ghsr Deficiency
Vomiting, Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insuli... ORPHA:314811
Trimethylaminuria
Depression, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, General... ORPHA:52368
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Paroxysmal atrial tachycardia, Lethargy, Megaloblastic anemia... ORPHA:49827
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... ORPHA:79301
Schaaf-Yang Syndrome
Gastroesophageal reflux, Inability to walk, Hypogonadism, Failure to thrive in infancy, Obesity, ... OMIM:615547
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Ataxia ORPHA:71518
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Cerebral cortical atrophy, EEG with parietal epileptiform discharges, Continuous spike and waves ... OMIM:619428
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy OMIM:617830
Cyclic Neutropenia
Cyclic neutropenia, Fever OMIM:162800
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Fever, Bruising... ORPHA:99828
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Vomiting, Failure to thrive, Ataxia ORPHA:622
Sepsis In Premature Infants
Temperature instability, Diarrhea, Hypothermia, Decreased body weight, Neutropenia, Abdominal dis... ORPHA:90051
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Glycosuria, Vomiting, Hyperins... ORPHA:263455
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cerebellar atrophy, Cerebr... OMIM:301006
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Autosomal Dominant Spastic Ataxia Type 1
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Spastic ataxia,... ORPHA:251282
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavio... ORPHA:261229
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Constipation, Hyperactivity, Ataxia, Parox... ORPHA:228402
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Dystonia, Motor stereotypy, EEG abnormality OMIM:617820
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Fever, Splenomegaly, Lethargy, Arrhythmia, Cons... ORPHA:99745
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... OMIM:609425
Whipple Disease
Insulin resistance, Ataxia, Gastrointestinal hemorrhage, Depression, Polydipsia, Fever, Diarrhea,... ORPHA:3452
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Failure to thrive, Incr... ORPHA:90674
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, EEG abno... OMIM:618718
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Necrotizing Enterocolitis
Temperature instability, Diarrhea, Abdominal distention, Hypotension, Vomiting, Hypoactive bowel ... ORPHA:391673
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Decreased liver function, Hypersplenism, Hepa... ORPHA:98850
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia OMIM:617885
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Sensor... OMIM:615244
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Secondary Short Bowel Syndrome
Diarrhea, Central hypothyroidism, Failure to thrive, Vomiting, Volvulus, Cholestasis, Malnutritio... ORPHA:95427
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Episodic vomiting, Ataxia, Hepatomegaly, Feeding difficulties OMIM:618224
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Cerebral cortical atrophy, Sensorineural hearing impairment, Proteinuria, Gait distu... ORPHA:1192
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Cyclic Vomiting Syndrome
Vomiting, Cardiomyopathy, Anorexia, Nausea, Lethargy, Attention deficit hyperactivity disorder, G... OMIM:500007
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Cerebellar atrophy, Cerebellar vermis atrophy, Proteinuria, M... OMIM:618347
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia, Hypoglycemia OMIM:610006
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Failure to thrive, Feeding difficulties, Cerebral ischemia, Emotional labilit... ORPHA:927
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Low-set ears, Abnormal helix morphology, Cerebral cortical atrophy, Hearing impair... OMIM:214100
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Mpi-Cdg
Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to thrive, Decreased l... ORPHA:79319
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Abnormal pulmonary interstitial morphology, R... ORPHA:85443
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria, Hearing impairment ORPHA:79087
Leukoencephalopathy With Vanishing White Matter 1
Fever, Emotional lability, Lethargy, Gait disturbance, Unsteady gait, Primary gonadal insufficien... OMIM:603896
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Joubert Syndrome 10
Recurrent fever, Frequent temper tantrums, Obesity, Dysmetria, Decreased body weight, Polyphagia,... OMIM:300804
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy... OMIM:613561
Angelman Syndrome
Broad-based gait, Polyphagia, Ataxia, Dysphagia, Self-injurious behavior, Gastroesophageal reflux... ORPHA:72
Autoerythrocyte Sensitization Syndrome
Self-injurious behavior, Epistaxis, Gastrointestinal hemorrhage, Depression, Diarrhea, Fever, Vom... ORPHA:324636
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cardiomyopathy, Hepatic steatosis, Lethargy, Ketotic hypoglycemia, Feeding dif... ORPHA:26792
Late-Onset Isolated Acth Deficiency
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pain, Celiac ... ORPHA:199299
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:246900
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Failure to th... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... OMIM:619386
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop... ORPHA:159
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Anorexia ORPHA:99852
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Propionic Acidemia
Vomiting, Failure to thrive, Hypoglycemia, Cardiomyopathy, Pancytopenia, Hepatomegaly, Lethargy, ... OMIM:606054
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Staphylococcal Necrotizing Pneumonia
Hypotension, Fever, Shock, Leukopenia, Leukocytosis, Addictive alcohol use, Increased circulating... ORPHA:36238
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Lethargy, Reduced TSH response to thyrotrophin-releasing ... OMIM:618573
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Mitochondrial Complex I Deficiency, Nuclear Type 5
Vomiting, Failure to thrive, Irritability, Lethargy, Episodic vomiting, Ataxia, Hepatomegaly, Dys... OMIM:618226
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting, Hypothermia, Arrhythmia, Gait disturbance, Ataxia ORPHA:29822
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Congenital Enterovirus Infection
Hepatic failure, Hypotension, Abnormal bleeding, Hepatitis, Fever, Cardiomyopathy, Cholestasis, L... ORPHA:292
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Cellulitis, Lymphopenia, Hepatosplenomegaly... OMIM:618986
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Recurrent fever, Fever, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:603552
Early Myoclonic Encephalopathy
Lethargy, Dysphagia, Feeding difficulties, Poor suck ORPHA:1935
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Broad-based gait, Obesity, Polyphagia, Poor suck ORPHA:171829
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Acute Promyelocytic Leukemia
Gingival bleeding, Pancytopenia, Weight loss, Neutropenia, Anorexia, Abdominal pain, Purpura, Sto... ORPHA:520
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Cerebral atrophy, Stage 5 chronic kidney disease, Congenital ... OMIM:617730
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism, Feeding difficulties in infancy ORPHA:177910
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, He... OMIM:308940
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Cardiomyopathy, Leukopenia, Lethargy, Cerebe... OMIM:251000
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Lethargy, Ataxia, Feeding difficulties OMIM:617829
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... ORPHA:732
Glucagonoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac... ORPHA:97280
Episodic Ataxia Type 4
Vertigo, Abnormal head movements, Ataxia ORPHA:79136
Galactosemia I
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine OMIM:230400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Irritability, Loss of ambulation, Neutropenia, Dysphagia, Small for gestational age... OMIM:618253
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Hypothermia, Excessive bleeding aft... ORPHA:99826
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Depression, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm o... ORPHA:440437
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Failure to thrive, Feeding difficulties ORPHA:26
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
N-Acetylglutamate Synthase Deficiency
Vomiting, Failure to thrive, Hypothermia, Aggressive behavior, Lethargy, Anorexia OMIM:237310
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Somatostatinoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97283
Cataract 47
Cataract, Microcornea OMIM:612018
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com... OMIM:618917
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... OMIM:609734
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity, Failure to thrive OMIM:274270
Magel2-Related Prader-Willi-Like Syndrome
Temperature instability, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398069
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Elevated circulating hepatic transaminase concentration, Vomiting, Dilate... ORPHA:26793
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardi... OMIM:212140
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Diarrhea, Vomiting, Failure to thrive, Lethargy, Gait disturbance, Megaloblastic anemia, Neutrope... OMIM:250940
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Autosomal Recessive Dopa-Responsive Dystonia
Fever, Gait ataxia, Irritability, Lethargy, Constipation, Ataxia, Bradykinesia, Feeding difficulties ORPHA:101150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Recurrent fever, Decreased body weight OMIM:620085
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Mahvash Disease
Palpitations, Type II diabetes mellitus, Recurrent pancreatitis, Abdominal pain, Pancreatic alpha... OMIM:619290
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Cerebellar atrophy, Sensorineural hearing impairment, Protein... OMIM:607426
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
X-Linked Acrogigantism
Pituitary adenoma, Abdominal distention, Increased circulating prolactin concentration, Fasting h... ORPHA:300373
Intellectual Developmental Disorder, Autosomal Dominant 72
Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Feeding difficul... OMIM:620439
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Hypoglycemia, Decrea... ORPHA:42
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Polyphagia, Feeding dif... OMIM:606407
Hyperphenylalaninemia, Bh4-Deficient, B
Recurrent fever, Irritability, Lethargy, Dysphagia, Choreoathetosis, Feeding difficulties, Poor suck OMIM:233910
Zollinger-Ellison Syndrome
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:913
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Acute Liver Failure
Diarrhea, Emotional lability, Euphoria, Ataxia, Jaundice, Gastrointestinal hemorrhage, Depression... ORPHA:90062
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Malabsorption, Villous atrophy,... OMIM:600955
Alexander Disease
Self-injurious behavior, Precocious puberty, Hypotension, Depression, Failure to thrive, Nausea a... ORPHA:58
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... OMIM:245400
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Recurrent infections due to aspiration, Absent brainstem audito... OMIM:617519
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Thrombocytopenia, Neutropenia, An... OMIM:159550
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age, Choreoathetosis, Feeding difficulties OMIM:617065
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Decreased propo... ORPHA:543
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Cerebral cortical atrophy, Difficulty walking, Decreased glomerular filtr... ORPHA:488627
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... ORPHA:139431
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Fever, Acut... ORPHA:131
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive, Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia,... ORPHA:289916
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis, Lethargy, Ataxia, Choreoathetosis ORPHA:71277
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Alport Syndrome
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... ORPHA:63
Pontocerebellar Hypoplasia, Type 15
Anemia, Thrombocytopenia, Delayed early-childhood social milestone development, Chronic neutropenia OMIM:619302
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Inability to walk, Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Diarrhea, Vomiting, Hypoglycemia, Abnormal EKG, Hyperins... ORPHA:230
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Primary Erythromelalgia
Leukemia, Vasculitis, Hypothermia ORPHA:90026
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor... OMIM:600795
Ppoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97278
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency, Sensorineural hearing impairment ORPHA:2668
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Intermittent di... OMIM:620270
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Vomiting, Hypoke... OMIM:600649
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Hear... OMIM:203780
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Delayed early-childhood social milestone development, Chronic neutropenia OMIM:619301
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co... ORPHA:75564
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Lymphopenia, Hypogonadot... OMIM:604250
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Diarrhea, Gastroesophageal reflux, Hypotension, Intermittent hypothermia... OMIM:608643
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:608049
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hypogonadotropic ... OMIM:602390
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in... ORPHA:247585
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, T... OMIM:618462
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Aganglionic megacolon... ORPHA:261222
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc... ORPHA:275864
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Abdominal pain, Neoplasm of the p... ORPHA:438274
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... ORPHA:398079
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Vomiting, F... ORPHA:71212
Evans Syndrome
Epistaxis, Bruising susceptibility, Autoimmune hemolytic anemia, Petechiae, Lethargy, Syncope, Ne... ORPHA:1959
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... ORPHA:226307
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Inability to ... ORPHA:101085
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypogonadism, Co... ORPHA:79230
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Hypogonadism, Decreased serum testosterone concentration, Splenomega... OMIM:201100
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Lower-limb joint contracture OMIM:613710
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Impaired distal vibration sensation, Dec... OMIM:601455
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Hepatomegaly, Malabsorption, Villous a... OMIM:557000
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat... ORPHA:100075
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Fever, Vomiting, Malnutrition, Abnormality of... ORPHA:79456
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, ... OMIM:304790
Waldenström Macroglobulinemia
Normocytic anemia, Ataxia, Gingival bleeding, Diarrhea, Vasculitis, Fever, Gastrointestinal hemor... ORPHA:33226
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbi... OMIM:608594
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Dysmetria, Irritability, Lethargy, Head titubation, Ataxia, Truncal ataxia, Fe... OMIM:250620
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Hypogl... OMIM:617872
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Gastrointestinal hemorrha... OMIM:617341
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy, Choreoathetosis, Ataxia OMIM:606777
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Diarrhea, Aplastic anemia, Fever, Lymphopenia, Recurrent aphthous stomatitis, Recurre... ORPHA:486
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Nausea and vomiting, Macrocytic anemia, Hepatomegaly, Lethargy, Pancr... ORPHA:27
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Slc35A1-Cdg
Cellulitis, Giant platelets, Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage,... ORPHA:238459
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Chronic diarrhea, Intermittent thrombocytopenia OMIM:616740
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Transcobalamin Ii Deficiency
Diarrhea, Vomiting, Failure to thrive, Pancytopenia, Macrocytic anemia, Irritability, Erythroid h... OMIM:275350
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic transaminase concentra... ORPHA:1667
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Failure to thrive, Decreased liver function, Acute hepatitis, Dysmetria, Lethargy, ... OMIM:238970
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Emotional lab... ORPHA:293987
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis OMIM:618218
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cerebellar atrophy, Hearing impairment, Nephrotic syndrome, M... OMIM:301108
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia OMIM:266130
Neonatal Alloimmune Neutropenia
Temperature instability, Fever, Maternal diabetes, Neutropenia in presence of anti-neutropil anti... ORPHA:464370
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Diarrhea, Recurrent fever, Recurrent aphthous stomatitis, Splenomegaly, A... OMIM:150550
Grfoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97261
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo... OMIM:269700
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Hepatomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Auto... OMIM:614470
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Cerebral atrophy, Stage 5 chronic kidney disease, Podocyte foot process effac... OMIM:619609
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Hypothermia, Pulmonary arterial hypertension, Hypothyroidis... OMIM:601005
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Petechiae, El... OMIM:603909
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia, Autonomic bladder dysfunction, Distal sensory impairment, Sensorineural hea... ORPHA:99027
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Atelectasis OMIM:300455
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Methylmalonic Aciduria, Cblb Type
Vomiting, Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Pancytopenia, Hepatomegaly, Le... OMIM:251110
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Apathy, Hepa... ORPHA:465508
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Cerebellar atrophy, Renal insufficiency, Gait at... OMIM:254900
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Autoimmune Hepatitis
Inflammation of the large intestine, Depression, Elevated circulating hepatic transaminase concen... ORPHA:2137
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure ... OMIM:619644
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Holocarboxylase Synthetase Deficiency
Ataxia, Nausea and vomiting, Irritability, Lethargy, Weight loss, Thrombocytopenia, Anorexia ORPHA:79242
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Inability to walk, Gait ataxia, Dysphagia, Recurrent respi... DECIPHER:45
Wild Type Attr Amyloidosis
Nephropathy, Impaired vibratory sensation, Abnormal pulmonary interstitial morphology, Autonomic ... ORPHA:330001
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Lethargy OMIM:618120
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Vomiting, Hypoglycemia, Cardiomyopathy, ... OMIM:616483
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Recurrent ... OMIM:308240
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis... ORPHA:90291
Imerslund-Grasbeck Syndrome 1
Proteinuria, Paresthesia, Microscopic hematuria, Somatic sensory dysfunction OMIM:261100
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Nausea and vomiting, Hepatomegaly, Lethargy, Anemia ORPHA:28
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... OMIM:598500
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Fever, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospleno... ORPHA:169154
Solitary Fibrous Tumor
Fever, Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Constipation, Ab... ORPHA:2126
Idiopathic Intracranial Hypertension
Depression, Vomiting, Abnormal emotion, Obesity, Lethargy, Nausea ORPHA:238624
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent fever, Recurrent aphthous stomatitis... ORPHA:343
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Familial Dysfibrinogenemia