Gene Summary

Name:
arginine vasopressin
Synonyms:
Vp,  Vsp

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
increased lymphocyte cell number Avptm1b(EUCOMM)Wtsi HET Early adult 2.77×10-08
impaired righting response Avptm1b(EUCOMM)Wtsi HET Early adult 4.47×10-06
decreased large unstained cell number Avptm1b(EUCOMM)Wtsi HET Early adult 7.96×10-06
preweaning lethality, complete penetrance Avptm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased neutrophil cell number Avptm1b(EUCOMM)Wtsi HET Early adult 1.39×10-07
increased circulating total protein level Avptm1b(EUCOMM)Wtsi HET Early adult 3.45×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Brain  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote Ambiguous
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)
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 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 1)
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 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland 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 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 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)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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%
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%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus ORPHA:30925
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level OMIM:125700

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Glucosuria
Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria OMIM:233100
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Diabetes mellitus, Polyphagia OMIM:222100
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney... OMIM:619468
Senior-Loken Syndrome 4
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Nephronophthisis 9
Polydipsia, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Nephronophthisis 1
Polydipsia, Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, ... OMIM:256100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Nephronophthisis 4
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage... OMIM:606966
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Glutathione Synthetase Deficiency
Intention tremor, Ataxia, Hemolytic anemia, Neutropenia OMIM:266130
Ataxia-Pancytopenia Syndrome
Anemia, Distal sensory impairment, Pancytopenia, Impaired vibration sensation in the lower limbs,... OMIM:159550
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria, Diabetes insipidus ORPHA:95626
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Senior-Loken Syndrome 3
Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome... OMIM:606995
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Decrease... OMIM:143880
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia, Neutropenia OMIM:616949
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyp... OMIM:613677
Dystonia 30
Hypothalamic hamartoma, Compulsive behaviors, Impulsivity, Aggressive behavior OMIM:619291
Senior-Loken Syndrome 1
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating... OMIM:266900
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Renal magnesium wasting, Self... OMIM:618314
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Impaired vibratory sensation, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Renal Hypoplasia
Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:93101
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Chronic Hiccup
Dehydration ORPHA:396
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Ochoa Syndrome
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic... ORPHA:2704
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Athetosis, Thrombocytopenia, Leukopenia, Ataxia, Neutropenia OMIM:229050
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Hemochromatosis, Type 3
Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I... OMIM:604250
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula... OMIM:603552
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia OMIM:620443
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Nephronophthisis 11
Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613550
Panhypophysitis
Polydipsia, Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulati... ORPHA:95513
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Decreased serum estradiol, M... OMIM:618841
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia OMIM:619302
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Megacystis, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Megacystis, Nephrogenic diabetes insipidus OMIM:125800
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroi... OMIM:617994
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Chorea, Hyperammonemia, Dystonia, Thrombocytopenia, Choreoathetosis, Neutropenia ORPHA:289916
Multiple Myeloma
Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentrat... ORPHA:29073
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Central Diabetes Insipidus
Polydipsia, Nocturia, Anorexia, Diabetes insipidus ORPHA:178029
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Polydipsia, Hypocalciuria, Renal potassium wasting, Enuresis, Hyper... OMIM:612780
Familial Renal Glucosuria
Dehydration ORPHA:69076
Meningioma
Enlarged pituitary gland, Urinary incontinence, Reduced circulating prolactin concentration, Decr... ORPHA:2495
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus ORPHA:30925
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Central hypothyr... ORPHA:398079
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polydipsia, Decreased glomerular filtration rate, Hyperchloriduria,... OMIM:602522
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Nephrocal... OMIM:607364
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
East Syndrome
Renal salt wasting, Polydipsia, Enuresis, Hyperaldosteronism, Renal sodium wasting, Salt craving,... ORPHA:199343
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Hypercalciuria, Hyperphosph... OMIM:239200
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Helix Syndrome
Polydipsia, Polyuria, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hyperparathyroidism OMIM:617671
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Hyperammonemia, Dystonia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Neutropenia ORPHA:79312
Cystinosis
Polydipsia, Delayed puberty, Nephropathy, Nephrogenic diabetes insipidus, Hypothyroidism, Protein... ORPHA:213
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating renin level, Abnormality of circulating cortisol level, Nephroc... ORPHA:320
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypernatriu... OMIM:613090
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Compulsive behaviors, Impuls... ORPHA:398069
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuri... OMIM:248250
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitar... ORPHA:91351
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Nephrogenic diabetes insipid... ORPHA:223
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Interhypothalamic adhesion, Attention deficit hyperactivity disorder, Self-injurious... OMIM:618929
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Impaired pain sensation, Eosinophilia, Lymphopenia ORPHA:2582
Enteric Anendocrinosis
Dehydration ORPHA:83620
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Compulsive behaviors ORPHA:397725
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Whim Syndrome 1
Neutropenia OMIM:193670
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Oligomeganephronia
Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a... ORPHA:2260
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperechogenic kidneys, Proteinuria, Chronic kidney disease, Diabet... OMIM:613845
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Increased circulating renin level OMIM:300971
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... ORPHA:158061
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:572
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Se... ORPHA:403
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy, Type I diabetes mellitus OMIM:560000
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Nephrocalcinosis OMIM:620152
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Dysphagia, Decreased thalamic volume OMIM:613668
Bardet-Biedl Syndrome 9
Polydipsia, Renal insufficiency, Polyphagia OMIM:615986
Gitelman Syndrome
Polydipsia, Polyuria, Delayed puberty, Hypocalciuria, Renal potassium wasting, Enuresis, Increase... OMIM:263800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hypera... ORPHA:251274
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Senior-Boichis Syndrome
Polydipsia, Agitation, Tubular luminal dilatation, Chronic kidney disease, Aggressive behavior, A... ORPHA:84081
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation ORPHA:314621
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteron... ORPHA:231580
Neurodevelopmental Disorder With Language Delay And Seizures
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Hypothalamic hamartoma, Hyp... OMIM:619908
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Ataxia, Neutropenia OMIM:603585
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Reticular Dysgenesis
Dehydration ORPHA:33355
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat... ORPHA:18
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Immunodeficiency 7
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia OMIM:615387
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Hyposthenuri... ORPHA:95512
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria, Stage 5 chronic k... OMIM:612925
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... OMIM:301078
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Propionic Acidemia
Anemia, Pancytopenia, Hyperammonemia, Dystonia, Thrombocytopenia, Hyperglycinemia, Neutropenia OMIM:606054
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Acute kidney injury, Glomerulopathy, Abnormality of endocrine pancreas physiology, Hy... ORPHA:93111
Familial Cold Urticaria
Dehydration ORPHA:47045
Septo-Optic Dysplasia Spectrum
Polydipsia, Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Anterior pituitary hypopl... ORPHA:3157
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification, Motor tics OMIM:615483
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Arima Syndrome
Polydipsia, Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney... OMIM:243910
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Renal phosphate wasting, Proximal tubulopathy, Micr... ORPHA:411634
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc... OMIM:614857
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr... ORPHA:2235
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hyperprostaglandinuria, Renal potassi... OMIM:241200
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hyperc... ORPHA:47159
Cystinosis, Nephropathic
Low-molecular-weight proteinuria, Polyuria, Polydipsia, Delayed puberty, Hematuria, Male hypogona... OMIM:219800
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612924
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Reticulocytop... OMIM:275350
Developmental Delay, Hypotonia, And Impaired Language
Ataxia, Neutropenia OMIM:620012
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Hyperaldosteronism ORPHA:369929
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612926
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification, Dysphagia OMIM:618317
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia, Neutropenia OMIM:250940
Isovaleric Acidemia
Dehydration OMIM:243500
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Pediatric-Onset Graves Disease
Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Hyperactivity,... ORPHA:525731
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... OMIM:304790
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... ORPHA:93924
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Craniofacial dystonia, Neutropenia OMIM:618253
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Hypercalciuria, Re... ORPHA:99880
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Leukopenia, Hyperglycinemia, Neutropenia OMIM:251000
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt... OMIM:251110
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Anemia, Pancytopenia, Tremor, Hyperammonemia, Thrombocytopenia, Hyperglyc... OMIM:251100
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Disinhibition OMIM:618193
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le... ORPHA:143
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu... ORPHA:1667
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Cerebrooculofacioskeletal Syndrome 1
Dehydration OMIM:214150
Leptospirosis
Thrombocytopenia, Hyperproteinemia ORPHA:509
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ... OMIM:601678
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Hypoproteinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Spleno... OMIM:615895
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Tremor, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal acti... OMIM:214500
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndro... ORPHA:411629
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Amoebiasis Due To Free-Living Amoebae
Intrarenal abscess, Abnormality of the adrenal glands, Abnormal hypothalamus morphology, Restless... ORPHA:68
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:363717
Wolfram Syndrome
Polydipsia, Delayed puberty, Male hypogonadism, Diabetes insipidus, Recurrent urinary tract infec... ORPHA:3463
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... ORPHA:540
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
3-Methylglutaconic Aciduria, Type Viib
Tremor, Dystonia, Thrombocytopenia, Leukopenia, Ataxia, Opisthotonus, Choreoathetosis, Neutropenia OMIM:616271
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hypometh... ORPHA:2169
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Autosomal Recessive Spastic Paraplegia Type 11
Dysphagia, Hypothalamic atrophy ORPHA:2822
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutro... OMIM:615816
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:47
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Rabson-Mendenhall Syndrome
Polydipsia, Increased serum testosterone level, Long penis, Hypothyroidism, Precocious puberty, N... ORPHA:769
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Barth Syndrome
Hypochromic microcytic anemia, Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia... OMIM:302060
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Harlequin Ichthyosis
Dehydration ORPHA:457
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Diarrhea 10, Protein-Losing Enteropathy Type
Renal dysplasia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, Hypoth... OMIM:618183
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Renal insufficiency ORPHA:2165
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Choreoathetosis, Opisthotonus, Neutropenia ORPHA:445038
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Neutropenia OMIM:301081
Tubulinopathy-Associated Dysgyria
Attention deficit hyperactivity disorder, Abnormal thalamus morphology ORPHA:467166
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperhomocystinemia, Megaloblastic anemia, Cystathi... OMIM:277380
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Lamellar Ichthyosis
Dehydration ORPHA:313
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Highly elevated creatine kinase, Microcytic anemia, Elevated circulating creatine kinase concentr... OMIM:251900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C... ORPHA:1830
Pallister-Hall-Like Syndrome
Renal dysplasia, Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism OMIM:241800
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:47612
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperalaninemia, Hyperammonemia, Dystonia, Ataxia, Choreoathetosis, Neutropenia OMIM:615471
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Ataxia, N... OMIM:613990
Gitelman Syndrome
Polydipsia, Delayed puberty, Urinary incontinence, Renal potassium wasting, Nocturia, Parathyroid... ORPHA:358
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:613989
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:508542
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Leukopenia, Splenomegaly, Neutropenia OMIM:604173
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe... ORPHA:293987
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia OMIM:242900
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia ORPHA:86843
Mucopolysaccharidosis-Plus Syndrome
Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Neutropenia OMIM:617303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Dehydration OMIM:208085
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Renal hypoplasia/aplasia ORPHA:2570
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Generalized Pseudohypoaldosteronism Type 1
Dehydration ORPHA:171876
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentratio... ORPHA:79284
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Oliguri... ORPHA:99845
Netherton Syndrome
Dehydration ORPHA:634
Hermansky-Pudlak Syndrome 10
Dystonia, Splenomegaly, Neutropenia OMIM:617050
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... OMIM:250250
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... ORPHA:54251
Erdheim-Chester Disease
Polydipsia, Diabetes insipidus, Dysuria, Hydronephrosis, Renal insufficiency, Hypogonadotropic hy... ORPHA:35687
Renal Tubular Dysgenesis
Renotubular dysgenesis, Anuria, Abnormality of the urinary system OMIM:267430
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatosplenomegaly, Splenomegaly, Enlarged platelet dense granule... OMIM:608233
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Sepsis In Premature Infants
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp... ORPHA:90051
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Whipple Disease
Polydipsia, Hypothyroidism, Anorexia ORPHA:3452
Dend Syndrome
Dehydration ORPHA:79134
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Toxic Epidermal Necrolysis
Polydipsia, Dysuria, Dysphagia, Renal insufficiency, Abnormality of the urethra ORPHA:537
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Beta-Ketothiolase Deficiency
Edema, Dehydration ORPHA:134
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Kallmann Syndrome
Delayed puberty, Anterior hypopituitarism, Hypoplasia of penis, Renal agenesis, Micropenis, Hypog... ORPHA:478
Oculoskeletodental Syndrome
Nephrocalcinosis, Abnormal thalamus morphology ORPHA:557003
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... ORPHA:2330
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... OMIM:617099
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Hypospadias, Abnormal thalamus morphology, Hypergonadotropic hypogonadism, Decre... ORPHA:2959
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Leigh Syndrome
Anemia, Chorea, Athetosis, Hyperalaninemia, Dystonia, Ataxia, Choreoathetosis, Neutropenia ORPHA:506
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Thrombocyt... OMIM:619644
Whim Syndrome
Limb ataxia, Neutropenia, Abnormal neutrophil morphology, Lymphopenia ORPHA:51636
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Agitation OMIM:619046
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Dysphagia ORPHA:1947
Methylmalonic Aciduria And Homocystinuria, Cblc Type