Gene Summary

Name:
nuclear transcription factor-Y alpha
Synonyms:
Sez10,  Cbf-b

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retinal pigmentation NfyaGt(EUCJ0004f10)Hmgu HET   Early adult 1.63×10-05
increased circulating calcium level NfyaNfya HET Early adult 2.97×10-07
increased circulating fructosamine level NfyaGt(EUCJ0004f10)Hmgu HET Early adult 1.14×10-05
abnormal head morphology NfyaGt(EUCJ0004f10)Hmgu HET Early adult 5.20×10-17
increased blood urea nitrogen level NfyaNfya HET   Early adult 3.78×10-05
decreased body length NfyaGt(EUCJ0004f10)Hmgu HET Early adult 8.71×10-15
decreased circulating serum albumin level NfyaGt(EUCJ0004f10)Hmgu HET Early adult 6.71×10-06
thrombocytosis NfyaNfya HET Early adult 1.38×10-05
increased bone mineral density NfyaGt(EUCJ0004f10)Hmgu HET   Early adult 1.41×10-05
increased IgG1 level NfyaGt(EUCJ0004f10)Hmgu HET Early adult 2.05×10-07
abnormal eye morphology NfyaGt(EUCJ0004f10)Hmgu HET   Early adult 1.23×10-05
increased circulating phosphate level NfyaNfya HET   Early adult 5.81×10-05
increased leukocyte cell number NfyaGt(EUCJ0004f10)Hmgu HET Early adult 2.80×10-05
increased circulating creatinine level NfyaNfya HET Early adult 4.75×10-06
decreased body weight NfyaGt(EUCJ0004f10)Hmgu HET Early adult 1.94×10-07
abnormal startle reflex NfyaGt(EUCJ0004f10)Hmgu HET Early adult 1.03×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

View all 91 images

Human diseases caused by Nfya mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Azotemia, Familial
Azotemia OMIM:109160
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Immunodeficiency 69
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Thrombocythemia 2
Thrombocytosis OMIM:601977
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Weight loss, Salmonella osteomyelitis, Anemia, Increased circulatin... OMIM:209950
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Thrombocythemia 3
Thrombocytosis OMIM:614521
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Anemia, Thrombocytopenia ORPHA:2123
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612926
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated circulating C-react... OMIM:604416
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Bardet-Biedl Syndrome 13
Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo... OMIM:615990
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Rhabdoid Tumor
Hypercalcemia, Anemia, Thrombocytopenia ORPHA:69077
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Reduced natural killer cell activity, Anemia, Splenomegaly, Increased circulat... OMIM:616050
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Failure ... OMIM:618534
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Leishmaniasis
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulat... ORPHA:507
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Rod-cone dystrophy, Increased bone mine... OMIM:136300
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Heme Oxygenase 1 Deficiency
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... OMIM:614034
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circulating creatinin... OMIM:235400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia OMIM:600351
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Splenomegaly, Hypocalcemia ORPHA:172
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy OMIM:614307
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Anemia, Splenomegaly, Increased circulating fer... ORPHA:158061
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Primary Membranoproliferative Glomerulonephritis
Drusen, Decreased serum complement C3, Hypoalbuminemia ORPHA:54370
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Failure to thrive, Decreased lymphocyte proliferati... ORPHA:169154
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Craniosynostosis, Increased bone mineral density ORPHA:178377
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Decreased circulating IgA level, Decreased circulating IgG leve... ORPHA:90362
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, W... ORPHA:398063
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia ORPHA:54057
Melorheostosis
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Increased bone... ORPHA:2485
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Intention tremor, Pigmentary retinopathy OMIM:266130
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Alg6-Cdg
Retinal degeneration, Failure to thrive, Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL chole... ORPHA:79320
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Increased bone mi... ORPHA:37748
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Pigmentary retinopathy OMIM:617613
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia OMIM:619658
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Optic atrophy from cranial nerve compressio... OMIM:239100
Sclerosteosis
Optic atrophy, Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone ... ORPHA:3152
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL chole... OMIM:246700
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Alpha-Heavy Chain Disease
Splenomegaly, Anemia, Hypocalcemia ORPHA:100025
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Anemia, Hypophosphatemia, Splenomegaly, Aminoaciduria OMIM:239200
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Small for gestational age, Pigmentary retinopathy OMIM:275400
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia OMIM:241600
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Generalized os... ORPHA:210110
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Anemia, Camptodactyly, Thrombocytopenia OMIM:608104
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Diaphyseal sclerosis, Papilledema, Craniofacial hyperostosis, Cortical sclerosis, ... OMIM:122860
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... OMIM:618987
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circulating antibody ... OMIM:615285
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Dent Disease 2
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypophosphatemia OMIM:300555
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Eosinophilic Gastroenteritis
Leukocytosis, Weight loss, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive... ORPHA:2070
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Osteoporosis, Coarse metaphyseal trabeculariz... ORPHA:2801
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia ORPHA:251004
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Reduced natural killer cell activit... OMIM:603553
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteoscleros... OMIM:259700
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia OMIM:618805
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Caspase 8 Deficiency
Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na... ORPHA:540
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Hypophosphatemia OMIM:613388
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Mu-Heavy Chain Disease
Abnormal B cell count, Weight loss, Osteoporosis, Anemia, Splenomegaly, Increased circulating ant... ORPHA:100024
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Increased circu... ORPHA:86816
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita, Camptodac... ORPHA:1466
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Senior-Loken Syndrome
Abnormality of bone mineral density, Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Hypophosphatasia, Infantile
Hypercalcemia, Anemia, Elevated plasma pyrophosphate OMIM:241500
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia ORPHA:163693
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypocholesterolemia, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:212065
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Abnormal mean corpuscular volume, Bone marrow hypocellularity, ... ORPHA:86839
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Leukocytosis, Limitation of movement at ankles, Increased circulating IgG ... ORPHA:206594
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Ramon Syndrome
Failure to thrive, Abnormality of retinal pigmentation, Osteolysis ORPHA:3019
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Spinocerebellar Ataxia 7
Tremor, Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Hepat... ORPHA:247598
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentr... OMIM:615934
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Chorio... OMIM:617303
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hyperuricemia, Hyperammonemia ORPHA:134
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... OMIM:102730
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l... ORPHA:276
Retinopathy, Pigmentary, And Mental Retardation
Joint hypermobility, Truncal obesity, Pigmentary retinopathy OMIM:268050
Retinitis Pigmentosa 7
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:608133
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Majeed Syndrome
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Synovitis, Failure to thrive, Congenital h... ORPHA:77297
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop... ORPHA:816
Fanconi Renotubular Syndrome 1
Aminoaciduria, Hypophosphatemia, Hypokalemia OMIM:134600
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Albers-Schönberg Osteopetrosis
Optic atrophy, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... ORPHA:53
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomegaly ORPHA:29073
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia OMIM:227810
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Hypophosphatemia OMIM:308990
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Hypoalbuminemia OMIM:208920
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79444
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Leukopenia, Abnormal circulating lipid concentration, Abnormal circul... ORPHA:2298
Congenital Toxoplasmosis
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Failure to thrive in infancy ORPHA:858
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Decreased body weight, Osteoporosis, Increased bone mineral density OMIM:614856
Oculopharyngodistal Myopathy 3
Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy OMIM:619473
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy... ORPHA:292
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Oculoskeletodental Syndrome
Hypercalcemia, Splenomegaly, Hypocalcemia OMIM:618440
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Partial absence of specific antibody response to Haemophilus inf... ORPHA:79324
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Macrocytic anemia, Normocytic anemia, Hyperuricemia, Eosinophilia ORPHA:199299
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Mastocytosis
Hypercalcemia, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Interstitial Lung And Liver Disease
Thrombocytosis, Aminoaciduria, Anemia, Hyperammonemia OMIM:615486
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Bone ... OMIM:166600
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Obesity ORPHA:791
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria ORPHA:94088
Retinitis Pigmentosa 2
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Leber Congenital Amaurosis 1
Hyperthreoninemia, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Abnormal platelet function, Hypocalcemic seizures, Hypocalcemia,... ORPHA:79443
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Thrombocytosis, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... ORPHA:88673
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Igg4-Related Aortitis
Weight loss, Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE l... ORPHA:449400
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Macrocytic anemia, Hypocalcemia OMIM:212750
Congenital Muscular Dystrophy With Intellectual Disability
Elevated circulating creatine kinase concentration, Multiple joint contractures, Pigmentary retin... ORPHA:370968
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticu... OMIM:611490
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Hypocholesterolemia... ORPHA:14
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Hyperuricemia, Hyperammonemia ORPHA:20
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Decreased circulating IgA level, Oligoarthritis, Decreased circulat... OMIM:619510
Leigh Syndrome With Leukodystrophy
Failure to thrive, Optic atrophy, Anemia, Pigmentary retinopathy ORPHA:255241
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Failure to thrive, Increased circulating IgG level, Splenomegaly... OMIM:617388
Aicardi-Goutieres Syndrome 9
Optic atrophy, Failure to thrive, Weight loss, Osteoporosis, Anemia, Hepatosplenomegaly, Choriore... OMIM:619487
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia ORPHA:90060
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 11
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Decreased pr... OMIM:615767
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduced antige... OMIM:617241
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... ORPHA:37042
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Weight loss, Anemia, Hypoalbuminemia, Liver abscess ORPHA:67
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, ... OMIM:259710
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopen... ORPHA:340
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Leukopenia, Decreased circulating IgG level, ... ORPHA:505248
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased circu... ORPHA:77259
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... OMIM:614470
Leber Congenital Amaurosis 2
Fundus atrophy, Pigmentary retinopathy OMIM:204100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... ORPHA:466650
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Hyperuricemia, Increased circulatin... ORPHA:95409
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... ORPHA:64743
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesi... OMIM:259720
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... ORPHA:88618
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Decreased circulating IgG level, Hypopigmenta... ORPHA:1493
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Increased circulating IgA level, Hyperpigmentation of t... ORPHA:186
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Nephrotic Syndrome, Type 14
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Aceruloplasminemia
Abnormality of retinal pigmentation, Aceruloplasminemia, Hypochromic microcytic anemia, Elevated ... ORPHA:48818
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Opisthotonus, Weight loss, Increased susceptibility to fractures, Rod-cone dys... ORPHA:216866
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... OMIM:615559
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Unconjugated hyperbilirubinemia, Schistocytosis, Hypokalemia, Microan... ORPHA:90038
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia ORPHA:367
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized reticulate brown pigmentation, Depigmentation/hyperpigmentation of skin, Failure to t... ORPHA:79396
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Rickets, Failure to thrive, Osteoporosis, Pigmentary ... OMIM:560000
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Failure to thrive, Increased circulating IgE level, L... ORPHA:277
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Failure to thrive, Decreased circulating ... ORPHA:331206
Arthrogryposis, Distal, Type 5
Distal arthrogryposis, Abnormality of retinal pigmentation, Congenital finger flexion contracture... OMIM:108145
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... ORPHA:454836
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor, Joint laxity OMIM:617121
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Joi... OMIM:609033
Autosomal Recessive Spastic Paraplegia Type 15
Hand tremor, Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Failure to thrive, Anemia, Decreased serum iron, Abnormal circulating selen... ORPHA:89842
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatine kinase conc... ORPHA:36234
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Anemia, Hypocalcemia OMIM:244460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Pigmentary retinopathy OMIM:613156
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Cohen Syndrome
Optic atrophy, Chorioretinal dystrophy, Neutropenia, Leukopenia, Small for gestational age, Bull'... OMIM:216550
Hypotonia-Cystinuria Syndrome
Cystinuria, Hypocalcemia OMIM:606407
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, D... ORPHA:90363
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Zika Virus Disease
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... ORPHA:448237
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Anemia, Hypokalemia, Hypocalcemia OMIM:175500
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... ORPHA:447
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Al Amyloidosis
Weight loss, Anemia, Increased circulating NT-proBNP concentration, Increased circulating antibod... ORPHA:85443
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia, Hypocalcemia ORPHA:47
Bardet-Biedl Syndrome 3
Obesity, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Flexion contracture, Pigmentary retinopathy OMIM:252011
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Thiamine-responsive megaloblastic a... ORPHA:85138
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypopigmentation of the fundus, Retinal detachment, Increased bone mineral density, Abnormal bone... ORPHA:163649
Sporadic Pheochromocytoma/Secreting Paraganglioma