Gene Summary

Name:
itchy, E3 ubiquitin protein ligase
Synonyms:
6720481N21Rik,  AIP4,  C230047C07Rik,  8030492O04Rik

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 spleen weight Itchtm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased bone mineral density Itchtm1b(EUCOMM)Hmgu HOM Early adult 1.46×10-17
abnormal esophagus morphology Itchtm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased blood urea nitrogen level Itchtm1b(EUCOMM)Hmgu HOM Early adult 9.23×10-13
decreased exploration in new environment Itchtm1b(EUCOMM)Hmgu HOM Early adult 3.87×10-08
increased circulating aspartate transaminase level Itchtm1b(EUCOMM)Hmgu HOM Early adult 3.25×10-07
decreased fasting circulating glucose level Itchtm1b(EUCOMM)Hmgu HOM Early adult 5.38×10-06
decreased circulating glucose level Itchtm1b(EUCOMM)Hmgu HOM   Early adult 2.56×10-05
decreased circulating alkaline phosphatase level Itchtm1b(EUCOMM)Hmgu HOM Early adult 1.12×10-28
abnormal bone structure Itchtm1b(EUCOMM)Hmgu HOM Early adult 1.10×10-21
increased circulating calcium level Itchtm1b(EUCOMM)Hmgu HOM Early adult 4.19×10-32
increased mean corpuscular volume Itchtm1(NCOM)Cmhd HET Early adult 9.69×10-08
increased circulating amylase level Itchtm1b(EUCOMM)Hmgu HOM Early adult 2.47×10-35
abnormal startle reflex Itchtm1b(EUCOMM)Hmgu HOM Early adult 5.17×10-05
abnormal head size Itchtm1b(EUCOMM)Hmgu HOM Early adult 5.43×10-05
increased heart weight Itchtm1b(EUCOMM)Hmgu HOM Early adult 1.25×10-09
decreased circulating fructosamine level Itchtm1b(EUCOMM)Hmgu HOM Early adult 2.88×10-11
increased lean body mass Itchtm1b(EUCOMM)Hmgu HOM Early adult 6.17×10-05
enlarged spleen Itchtm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating total protein level Itchtm1b(EUCOMM)Hmgu HOM Early adult 1.20×10-30
enlarged gallbladder Itchtm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating phosphate level Itchtm1b(EUCOMM)Hmgu HOM Early adult 1.15×10-15
enlarged kidney Itchtm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased total body fat amount Itchtm1b(EUCOMM)Hmgu HOM Early adult 9.35×10-05
decreased bone mineral content Itchtm1b(EUCOMM)Hmgu HOM Early adult 3.11×10-34
abnormal tooth morphology Itchtm1b(EUCOMM)Hmgu HOM Early adult 2.68×10-06
tremors Itchtm1b(EUCOMM)Hmgu HOM Early adult 5.21×10-10

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 100% (2 of 2)
Bone 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Liver 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)
Oral epithelium 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)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea 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 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote 100% (2 of 2)

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 Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
oral cavity 0.0%
skin Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Auditory Brain Stem Response

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

4 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Hepatomegaly, Gastroesophageal reflux, Pancytopenia, Short philtrum, Por... OMIM:613385
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Abnor... ORPHA:228426

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Multiple Myeloma
Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Functional abnormality of the gastroint... ORPHA:29073
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Pseudohypoparathyroidism Type 1B
Irritability, Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Low u... ORPHA:94089
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Elevated circulating creatine kinase concent... OMIM:160120
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Confusion, Increased bone mineral ... ORPHA:36913
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Reduced bone mineral density, Hypocalcemia, Cholestasis, Cognitive impair... ORPHA:172
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Blue Diaper Syndrome
Elevated circulating hepatic transaminase concentration, Blue urine, Increased body weight, Incre... ORPHA:94086
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Hypocalcemia, O... OMIM:612462
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Increased red blood cell count, Elevated plasma cell count, H... ORPHA:90041
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Osteoporosis, C... OMIM:103580
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Chvostek sign, Nephrocalci... OMIM:146200
Infantile Myofibromatosis
Intestinal obstruction, Abnormality of the kidney, Neoplasm of the pancreas, Gingival fibromatosi... ORPHA:2591
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Myoclonic spasms, Pseudohypoparathyroidism, Hypocalcemic tet... ORPHA:94090
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Rhabdoid Tumor
Irritability, Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Cerebral palsy, Hypercalcemia, ... ORPHA:69077
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, R... OMIM:612526
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Progressive psychomotor deterioration, Abnormal dental enamel morphology, Episod... ORPHA:251004
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Hepatomegaly, Pancytopenia, Increased blood urea n... OMIM:617872
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... ORPHA:398063
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Decreased response to growth hormone stimulation test, Hypocalcemic seizur... OMIM:241410
Sanjad-Sakati Syndrome
Intestinal obstruction, Thin vermilion border, Hypoparathyroidism, Congenital hypoparathyroidism,... ORPHA:2323
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Increased renal tubular phosphate reabsorption, Hyperos... OMIM:211900
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Tetraplegia, Hypoproteinemia, Leuk... OMIM:267700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalciuria, Depression, Parathormone-independent ... OMIM:600740
Blue Diaper Syndrome
Abnormal abdomen morphology, Abnormal circulating tryptophan concentration, Hypercalcemia, Nephro... OMIM:211000
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalciuria, Primary hyperparathyroidism, Generalized osteoporosis, Hyperphosphatu... ORPHA:99879
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Bone cyst, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyr... ORPHA:2668
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, N... OMIM:608836
Hypophosphatasia
Irritability, Anemia, Abnormality of the dentition, Failure to thrive in infancy, Hypercalcemia, ... ORPHA:436
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation... ORPHA:79444
Hyperparathyroidism 4
Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Primary hyperparathyroidism, Hypercalcemia OMIM:617343
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Premature loss of t... OMIM:239000
Oculoskeletodental Syndrome
Hepatomegaly, Protein-losing enteropathy, Hypocalcemia, Hypercalciuria, Oligodontia, Elbow flexio... OMIM:618440
Tyrosinemia, Type I
Enlarged kidney, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentra... OMIM:276700
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification OMIM:618618
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Renal hypoplasia/aplasia, Ascites, Thrombocytopenia, Hypercalcemia, Renal i... ORPHA:2123
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Ascites, Splenomegaly, Alveolar ridge overgrowth, Inguinal hernia, Hypocalcemia,... OMIM:235255
Johanson-Blizzard Syndrome
Anemia, Dextrocardia, Hypospadias, Delayed eruption of teeth, Hypoplasia of penis, Oligodontia, H... ORPHA:2315
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Irritability, Decreased response to growth hormone stimulation test... ORPHA:79443
Hypophosphatasia, Infantile
Irritability, Anemia, Unossified vertebral bodies, Hypercalciuria, Elevated plasma pyrophosphate,... OMIM:241500
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration OMIM:154276
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Tetraplegia, Hypop... OMIM:603553
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Generalized aminoaciduria, Impaired glucose tolerance, Nephrocalcinosis, Hy... ORPHA:2088
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ataxia, Splenomegaly, Dementia ORPHA:2274
Calciphylaxis
Ectopic ossification, Secondary hyperparathyroidism, Cellulitis, Hyperphosphatemia, Stage 5 chron... ORPHA:280062
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, H... OMIM:614732
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Pseudohypoparathyroidism, Ob... OMIM:603233
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232220
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating hepatic transaminase concentration, Oculogyric crisis,... ORPHA:94093
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fibrosis, Chron... ORPHA:79259
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly, Abnormal small intest... ORPHA:100025
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Rigidity, Hyperp... OMIM:145600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypoproteinemia, Ascites, Splenomegaly, Alveolar ridge overgrowth, Ing... ORPHA:1655
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Writer's cramp, Cortical myoclonus, Hypocalcemia, Depression, Emoti... ORPHA:428
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c... OMIM:248250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Polyuria, Calvarial osteosclerosis, Nephrolithiasis, Parathyroid hyperplasia, Metacar... OMIM:617994
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase concentration, Tu... OMIM:619902
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:26793
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic t... ORPHA:99845
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Phenylketonuria
Osteopenia, Lower limb spasticity, Depression, Hyperphenylalaninemia, Tremor, Short attention spa... ORPHA:716
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Irritability, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic ... ORPHA:369
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:616026
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Tremor, Hypoprotei... OMIM:608093
Thymic Neuroendocrine Tumor
Osteopenia, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, C... ORPHA:97289
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypercalciuria, Hypomagnesemi... ORPHA:2239
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyr... OMIM:615924
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Hematuria, Increased b... OMIM:614817
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypophosphatemia, Postprandial hyperglycemia, Rickets, Intrahepatic ch... OMIM:227810
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Recurrent pancreatiti... OMIM:145001
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Oculoskeletodental Syndrome
Retrognathia, Hypocalcemia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypopl... ORPHA:557003
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Tooth malposition, Hypercalciuria, Hyperphosphaturia, Hip contrac... OMIM:156400
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Micrognathia, Increased circulating iron concentration, Congenital h... ORPHA:446
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly,... OMIM:612126
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephro... OMIM:256300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Secondary microcephaly, Long philtrum, Urinary incontinence, Dental crowding, Eruption failure, T... ORPHA:476126
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,... OMIM:613845
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Irritability, Hypocalcemic seizures, Hepatomegaly, Generalized aminoaciduria, Delayed ep... ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypocalcemia, Bone cyst, Abnormal bone structure, Abnormality... ORPHA:93160
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Tremor, Vocal cord paralysis, Elevated urinary nor... ORPHA:94080
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Decreased growth hormone responses to growth hormone-releasing hormone... OMIM:101800
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Failure ... OMIM:239200
Fibrous Dysplasia Of Bone
Ovarian cyst, Hypophosphatemia, Pathologic fracture, Osteolysis, Rickets, Abnormality of the sphe... ORPHA:249
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Portal fibrosis, Elevated circulating hepatic trans... ORPHA:264580
Parathyroid Carcinoma
Lipoma, Nephrocalcinosis, Hypophosphatemia, Dysphagia, Chondrocalcinosis, Nephrolithiasis, Osteop... ORPHA:143
Wilson Disease
Portal fibrosis, Parkinsonism with favorable response to dopaminergic medication, Ascites, Limb d... OMIM:277900
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Progressive cerebellar ataxia, Spastic tetraparesis, M... ORPHA:67046
Nephronophthisis 2
Hyperkalemia, Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstiti... OMIM:602088
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of C... ORPHA:90362
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Paraparesis, Hy... OMIM:602080
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Generalized bone demineralization, Hypoparathyroidism, Macrocytic anemia, Hype... ORPHA:199299
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Myoclonus, Hy... OMIM:610539
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Microcephaly, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia... OMIM:617303
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Cognitive impairment, Ataxia, Flexion contracture OMIM:611105
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Progressive psychomotor deterior... ORPHA:363400
Glycogen Storage Disease Iv
Cirrhosis, Tubulointerstitial fibrosis, Esophageal varix, Cardiomyopathy, Ascites, Portal hyperte... OMIM:232500
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hypercho... ORPHA:75234
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Increased blood urea ... OMIM:620085
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Nephrocalcinosis, Parathyroid adenoma, Hypophosphatemia, Dysphagia, Chondrocalcinosis, Ne... ORPHA:99880
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Co... ORPHA:64743
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... OMIM:619868
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Hypo... OMIM:259700
Monosomy 13Q34
Microcephaly, Pulmonic stenosis, Common atrium, Obesity, Hypercalcemia, Hematochezia, Micrognathi... ORPHA:96168
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, U... OMIM:614576
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Abnormal heart morphology, Nephrocalcinosis, Long philtrum, Joint hypermobi... ORPHA:369837
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Cognitive impairment, Biliary... ORPHA:731
Saccharopinuria
Elevated plasma citrulline, Cystinuria, Tremor, Hypercystinemia, Citrullinuria, Hyperlysinemia, C... ORPHA:3124
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Cockayne Syndrome Type 1
Scarring, Hypoplasia of the primary teeth, Hepatomegaly, Anemia, Elevated circulating hepatic tra... ORPHA:90321
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Microcephaly, Action tremor, Rigidity, S... ORPHA:309854
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Lipoma, Hypocalciuria, Hypoma... ORPHA:405
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, H... OMIM:615895
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Urinary incontinence, Memory impairment, Depression, Chorea, Dysdiadochokinesis, Tr... OMIM:213600
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Everted lower lip vermilion, Trach... ORPHA:904
Crigler-Najjar Syndrome Type 1
Memory impairment, Tremor, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged ... ORPHA:79234
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Hyperphenylalaninemia, Tremor, Microcephaly, Dystonia, Dysphagia, Progr... OMIM:261630
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor, Elevated urinary 7-bi... OMIM:264070
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Irritability, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossif... OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased re... OMIM:145981
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic transaminase co... ORPHA:284426
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Hypoparathyroidism, Hypocalcemia, Increased bone mineral dens... OMIM:127000
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Recurrent frac... ORPHA:168569
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Calvarial osteosclerosis, Congenital hypoparathyroidism, Decreased... ORPHA:93325
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... OMIM:615234
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Hypercalcemia, Hyper... OMIM:239199
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration OMIM:615883
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anal fissure, Decreased circulating iron concentration, Dysphagia, Depression, Failure to thrive,... ORPHA:89842
Cystinosis
Rickets, Hypokalemia, Nephropathy, Portal hypertension, Failure to thrive, Hypophosphatemia, Prot... ORPHA:213
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Reduced bone... ORPHA:848
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Abnormality of the dentition, Hypopho... OMIM:193100
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Progressive microcephaly, Spas... ORPHA:521406
Glucagonoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Normo... ORPHA:97280
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Confusion, Tremor, Reticulocytosis, Increased blood urea nit... OMIM:274150
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia, Osteopenia OMIM:619073
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia, Abnormal paranasal sinus morphology, Intestinal lymphangiectasia OMIM:207731
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia... OMIM:226300
Glycogen Storage Disease Iii
Thin vermilion border, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ven... OMIM:232400
Lower Motor Neuron Syndrome With Late-Adult Onset
Increased intramuscular fat, Fasciculations, Tongue fasciculations, Tremor, Elevated circulating ... ORPHA:276435
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Ascit... ORPHA:97283
Osteopetrosis, Autosomal Recessive 5
Ascites, Microcephaly, Splenomegaly, Long philtrum, Irritability, Cranial hyperostosis, Hypertoni... OMIM:259720
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Myoclonus, Motor deterioration,... ORPHA:79262
Addison Disease
Hyperkalemia, Renal salt wasting, Normocytic anemia, Generalized bone demineralization, Primary t... ORPHA:85138
Vitamin D-Dependent Rickets, Type 2A
Rickets, Irritability, Hypocalcemic seizures, Delayed epiphyseal ossification, Delayed eruption o... OMIM:277440
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hepatosplenomegaly, Abnormal circulat... OMIM:307800
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Pathologic fracture, ... ORPHA:77259
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Parathyroid hyperplasia, Hypercalcemi... OMIM:612089
Drug-Induced Lupus Erythematosus
Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:231111
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Atypical Pantothenate Kinase-Associated Neurodegeneration
Irritability, Oromandibular dystonia, Depression, Emotional lability, Chorea, Tremor, Spasticity,... ORPHA:216873
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Gastrointestinal hemorrhage, Abn... ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease... ORPHA:94059
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg... OMIM:278000
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent... ORPHA:167
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Failure to thrive, Hypoglycemia, Cystinuria ORPHA:163693
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hyperphosphaturia, Hypophosphatemia... ORPHA:89937
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a... OMIM:613388
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Hepatomegaly, Acute kidney injury, Cholestasis, Nephr... ORPHA:85445
Dent Disease 1
Rickets, Low-molecular-weight proteinuria, Renal phosphate wasting, Delayed epiphyseal ossificati... OMIM:300009
Ppoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary... ORPHA:97278
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Hypoproteinemia, Small bowel diverticula, Fat malabsorption OMIM:221400
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Hypoproteinemia, Gingival bleeding, Ascites, Thrombocy... ORPHA:99828
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Leprechaunism
Enlarged kidney, Microcephaly, Nephrocalcinosis, Megarectum, Postprandial hyperglycemia, Hyperins... ORPHA:508
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Increased circulatin... ORPHA:157215
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Gingival overgrowth, High palate, Ascites, Neph... OMIM:269920
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat... ORPHA:231222
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic ... OMIM:605911
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Gastroesophageal reflux, Hypocalcemia, Spasticity, High pala... OMIM:617913
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypoparathyroidism, Hypocalcemia, Dec... ORPHA:93324
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration, High palate, Increased blood ... OMIM:223360
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Myopathy With Extrapyramidal Signs
Hypervalinemia, Elevated circulating hepatic transaminase concentration, Chorea, Microcephaly, At... OMIM:615673
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Vipoma
Neoplasm of the pancreas, Normochromic anemia, Ascites, Abnormal gastrointestinal motility, Pitui... ORPHA:97282
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Lipoma, Pituitary growth hor... ORPHA:913
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ... ORPHA:97261
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, B... OMIM:301068
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Inguinal hernia, Tr... OMIM:608022
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Del... OMIM:300554
Williams-Beuren Syndrome
Incoordination, Abnormal renal morphology, Microdontia, Pulmonic stenosis, Nephrocalcinosis, Mitr... OMIM:194050
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Micrognathia, Umbilical hernia, Neph... OMIM:618272
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Elevated... ORPHA:276621
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Microcephaly, Pericardial effusion, Cleft upper lip... OMIM:613885
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Adenoma sebaceum, Increased circulating prolactin concentration, Pancreatic islet c... OMIM:131100
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology, Arthritis, Recurrent fractures, Abnormality ... ORPHA:53
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Senior-Boichis Syndrome
Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,... ORPHA:84081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Delayed epiphyseal ossification, Hype... OMIM:241530
Linear Verrucous Nevus Syndrome
Abnormality of the kidney, Reduced bone mineral density, Hypophosphatemia, Mental deterioration ORPHA:2611
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rick... ORPHA:1652
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Abnormal glucose homeostasis, Tremor, Elevated circulating creatine kinase c... ORPHA:90117
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity, Cardiomegaly, Hypoalbuminemia, Colitis ORPHA:88643
Leptospirosis
Acute kidney injury, Hepatomegaly, Jaundice, Lymphadenopathy, Pericarditis, Cellular urinary cast... ORPHA:509
Fanconi Renotubular Syndrome 1
Rickets, Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy... OMIM:134600
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, ... OMIM:179800
Alg9-Cdg
Enlarged kidney, Abnormal bone ossification, Hypoplasia of the ovary, Progressive microcephaly, A... ORPHA:79328
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hep... ORPHA:263455
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Glucose intolerance, Eleva... OMIM:235200
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Wide mouth, Splenomegaly, Umbilical hernia, Long philtrum, Pathologic fracture, ... OMIM:252500
Bartter Syndrome, Type 1, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperparathyroidism,... OMIM:601678
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra... ORPHA:340
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Cardiomyocyte mitochondrial proliferation, Myoglobinuria, Elev... ORPHA:423
Hypermanganesemia With Dystonia 2
Limb dystonia, Microcephaly, Lower limb hypertonia, Opisthotonus, Clumsiness, Hypermanganesemia, ... OMIM:617013
Mccune-Albright Syndrome
Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,... ORPHA:562
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Microdontia, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia,... OMIM:601005
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Failure to thrive, Splenomegaly, Aminoac... OMIM:230350
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Congenital Disorder Of Glycosylation, Type Ie
Secondary microcephaly, Ankle flexion contracture, Hepatomegaly, Elevated circulating hepatic tra... OMIM:608799
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Decreased circulating carnitine concentration, Microvesicula... OMIM:212140
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Nephronophthisi... OMIM:216360
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Hypophosph... OMIM:612287
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, High pala... OMIM:619743
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom... OMIM:613313
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pituitary adenoma, P... ORPHA:276152
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Myoclonus OMIM:614018
Celiac Disease, Susceptibility To, 1
Rickets, Steatorrhea, Elevated circulating hepatic transaminase concentration, Iron deficiency an... OMIM:212750
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat... OMIM:612286
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Cognitive impairme... ORPHA:401901
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Spinal Cord Injury
Spasticity, Urinary bladder sphincter dysfunction, Allodynia, Hypercalcemia, Weakness due to uppe... ORPHA:90058
46,Xy Sex Reversal 4
Distal symphalangism, Renal dysplasia, High palate, Anal atresia, Increased blood urea nitrogen, ... OMIM:154230
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase... OMIM:613658
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Large intestinal polyposi... ORPHA:116
Acute Adrenal Insufficiency
Hyperkalemia, Renal salt wasting, Normocytic anemia, Hyperuricemia, Increased circulating renin l... ORPHA:95409
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Leukope... ORPHA:505248
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Micro... ORPHA:79237
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria, Hypercalcemia ORPHA:284400
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive, Hypophosphatemia, Spar... OMIM:600081
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Depression, Spasticity, Tremor, I... OMIM:614307
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Spasticity, Esophageal varix, Portal hyper... OMIM:617341
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Progressive microcephaly, Increased serum pyruvate, Organic aciduria, Long philtrum... OMIM:614741
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula... ORPHA:449395
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Elevated... ORPHA:29072
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega... OMIM:607616
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Splenomegaly, Hypoglycemia, Aminoaciduria, Hepatic failure ORPHA:664
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Renal insufficiency, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatin... OMIM:619386
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Hyperphenylalaninemia, Tremor, Microceph... OMIM:261640
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i... ORPHA:35710
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hypoglycemia OMIM:261750
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Subcortical dementia, Emotional lability, Chorea, Tr... OMIM:606159
Cystinosis, Nephropathic
Generalized aminoaciduria, Renal Fanconi syndrome, Hypophosphatemia, Splenomegaly, Dysphagia, Sta... OMIM:219800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Tremor, Myoclonus, Elevated circulating creatine kinase concentration, Fre... OMIM:159950
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Aicardi-Goutieres Syndrome 6
Irritability, Hepatomegaly, Tremor, Microcephaly, Rigidity, Dystonia, Thrombocytopenia, Splenomeg... OMIM:615010
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastr... ORPHA:79301
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Neoplasm of the pancreas, Reduced bone mineral density, Pheochromocy... ORPHA:652
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt... ORPHA:699
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Joint stiffness, Nephroc... ORPHA:534
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Decreased liver function, Acute kidney injury, Hypocalcemia, Confusion, Elevated ci... ORPHA:466650
Proteus Syndrome
Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splen... OMIM:176920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Nephr... OMIM:606407
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Athetosis, Clonus, Proximal renal tubula... OMIM:266150
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Esophageal varix, Hepatosplenomegaly, Micronodular cirrhosis, ... OMIM:618955
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Dystonia, Myoclonus ORPHA:139406
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Depression, Emotional lability, Confusion, Tremor, Myoclonus, Abnormality of extra... OMIM:615362
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Hepatomegaly, Thick lower lip vermilion, Short philtrum, Hypodontia, Denta... OMIM:618342
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Fractures of the long bones, Abnorm... ORPHA:464329
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial ef... OMIM:614702
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right... OMIM:306955
Combined Malonic And Methylmalonic Acidemia
Methylmalonic acidemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aci... ORPHA:289504
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Eleva... OMIM:607765
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular... OMIM:613490
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Hyperalaninemia, Elevated circulating alanine aminotransfe... OMIM:619048
Gracile Bone Dysplasia
Hypocalcemia, Decreased skull ossification, Ascites, Asplenia, Ankyloglossia, Failure to thrive, ... OMIM:602361
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612925
Systemic Sclerosis
Pericarditis, Dysphagia, Intestinal bleeding, Abnormal small intestine morphology, Myocarditis, A... ORPHA:90291
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased ... OMIM:615559
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis, Hypoproteinemia OMIM:137280
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Aceruloplasminemia
Chorea, Cognitive impairment, Gait ataxia, Aceruloplasminemia, Rigidity, Ataxia, Decreased circul... ORPHA:48818