Gene: Naa10 MGI:1915255

Gene Summary

Name:

N(alpha)-acetyltransferase 10, NatA catalytic subunit

Synonyms:

2310039H09Rik, Te2, Ard1, Ard1a

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
decreased heart weight	Naa10^em1(IMPC)Mbp	HEM	Late adult	3.22×10^-07
small testis	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
increased circulating alkaline phosphatase level	Naa10^em1(IMPC)Mbp	HOM	Early adult	2.36×10^-05
enlarged heart	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal adrenal gland morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
decreased total body fat amount	Naa10^em1(IMPC)Mbp	HOM	Early adult	5.18×10^-05
increased grip strength	Naa10^em1(IMPC)Mbp	HOM	Late adult	4.86×10^-07
abnormal lymph node morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal spleen morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged kidney	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
hydrocephaly	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
improved glucose tolerance	Naa10^em1(IMPC)Mbp	HOM	Late adult	3.07×10^-07
abnormal trachea morphology	Naa10^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
small kidney	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
enlarged lymph nodes	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
increased lean body mass	Naa10^em1(IMPC)Mbp	HOM	Early adult	4.29×10^-05
abnormal skin morphology	Naa10^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal skin morphology	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal uterus morphology	Naa10^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HOM	Early adult	3.54×10^-16
enlarged spleen	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HEM	Early adult	1.06×10^-13
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HEM	Middle aged adult	1.87×10^-13
abnormal skin morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal seminal vesicle morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal kidney morphology	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal spleen morphology	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
microphthalmia	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Naa10^em1(IMPC)Mbp	HOM	Middle aged adult	1.22×10^-05
abnormal testis morphology	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal kidney morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HOM	Middle aged adult	1.68×10^-13
enlarged seminal vesicle	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal skin morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal brain morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
enlarged kidney	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged kidney	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal ovary morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HEM	Late adult	2.40×10^-08

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Histopathology

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Human diseases caused by Naa10 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.

Human diseases associated with Naa10 (4 diseases)
Human diseases predicted to be associated with Naa10 (1710 diseases)

The table below shows human diseases associated to Naa10 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ogden Syndrome	Hydrocele testis, Sparse eyebrow, Enlarged kidney, Ventricular septal defect, Long eyelashes, Jau...	OMIM:300855
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hypospadias, Hydroureter, Hydronephrosis, Microphthalmia, Cryptorchidism	ORPHA:568
Ogden Syndrome	Aplasia/Hypoplasia of the eyebrow, Cryptorchidism, Fine hair	ORPHA:276432
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Renal hypoplasia/aplasia, Hypospadias, Hydroureter, Anophthalmia, Renal hy...	OMIM:309800

The table below shows human diseases predicted to be associated to Naa10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Graying Of Hair, Precocious	Premature graying of hair	OMIM:139100
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Book Syndrome	Premature graying of hair	OMIM:112300
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Tietz Syndrome	Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Waardenburg Syndrome, Type 2B	White forelock, Premature graying of hair, Heterochromia iridis	OMIM:600193
Dilution, Pigmentary	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	OMIM:126070
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Hepatorenocardiac Degenerative Fibrosis	Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car...	OMIM:619902
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Osteomesopyknosis	Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:2777
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Ermine Phenotype	Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair	OMIM:227010
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	OMIM:606952
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l...	OMIM:619947
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat...	OMIM:613496
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl...	OMIM:615382
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Van Buchem Disease	Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density	OMIM:239100
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Isolated Osteopoikilosis	Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi...	ORPHA:166119
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Pili canaliculi	OMIM:617252
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Hirsutism, Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant ...	ORPHA:90301
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial...	ORPHA:2790
Hypotrichosis 8	Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S...	OMIM:278150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormality of the lymph nodes	OMIM:136580
Hidrotic Ectodermal Dysplasia	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa...	ORPHA:189
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla...	OMIM:615415
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Immunodeficiency 32A	Lymphadenopathy	OMIM:614893
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Waardenburg Syndrome, Type 4B	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:613265
Flynn-Aird Syndrome	Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral...	OMIM:136300
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys...	OMIM:208540
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis	ORPHA:564003
Aa Amyloidosis	Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t...	ORPHA:85445
Ethanolaminosis	Cardiomegaly	OMIM:227150
Melorheostosis	Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in...	ORPHA:2485
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Sclerosteosis	Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis	ORPHA:3152
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis	OMIM:607634
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis	ORPHA:60026
Mueller-Weiss Syndrome	Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa...	ORPHA:566943
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat...	OMIM:607624
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair	OMIM:616760
White Forelock With Malformations	Poliosis, White forelock	OMIM:277740
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density	OMIM:166740
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Waardenburg Syndrome, Type 2A	Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry...	OMIM:193510
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia universalis, Hydrocephalus, Sparse body hair, Abnormal eyelash morpho...	ORPHA:1008
Distal Osteosclerosis	Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis	OMIM:126250
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ...	OMIM:144750
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Dysplastic Cortical Hyperostosis	Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:2204
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os...	OMIM:166600
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Crandall Syndrome	Pili torti, Hypoplasia of penis, Brittle hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of ...	ORPHA:202
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of...	OMIM:314390
Lessel-Kubisch Syndrome	Sparse pubic hair, Renal hypoplasia, Renal insufficiency, Hypogonadism, Premature graying of hair	OMIM:618681
Woolly Hair, Autosomal Dominant	Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology	OMIM:194300
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect	OMIM:619165
Renal Dysplasia	Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec...	ORPHA:93108
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis	OMIM:615198
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Craniodiaphyseal Dysplasia, Autosomal Dominant	Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis	OMIM:122860
Kerion Celsi	Lymphadenopathy, Alopecia	ORPHA:499
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru...	ORPHA:730
Mucopolysaccharidosis-Plus Syndrome	Hirsutism, Nephrotic syndrome, Hepatomegaly, Nephritis, Low anterior hairline, Splenomegaly, Rena...	OMIM:617303
Meacham Syndrome	Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Blind vagina, Atrial ...	OMIM:608978
Isolated Splenogonadal Fusion	Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis...	ORPHA:457083
H Syndrome	Abnormal eyebrow morphology, Hydrocephalus, Hypertrichosis, Micropenis, Alopecia, Abnormality of ...	ORPHA:168569
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal cortical adenoma, Pa...	ORPHA:97290
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly	OMIM:206400
Congenital Toxoplasmosis	Hepatomegaly, Thrombocytopenia, Ascites, Microphthalmia, Anemia, Lymphadenopathy, Jaundice, Cardi...	ORPHA:858
Intermediate Osteopetrosis	Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ...	ORPHA:210110
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Sparse axillary hair...	ORPHA:52901
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi...	ORPHA:895
Oculocutaneous Albinism Type 3	Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:79433
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus, Cryptorchidism, Tetralogy of Fallot	ORPHA:250994
Endocrine-Cerebroosteodysplasia	Sex reversal, Hydrocephalus, Holoprosencephaly, Micropenis, Hypospadias, Hyperechogenic kidneys, ...	OMIM:612651
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ...	ORPHA:100024
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area...	OMIM:203200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n...	OMIM:602088
Kaposiform Lymphangiomatosis	Lymphangioma, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Mul...	ORPHA:464329
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Inguinal hernia, Sparse axillary hair, Male pseudohermaphroditism, Abs...	ORPHA:754
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Axial Osteomalacia	Osteomalacia, Increased bone mineral density	OMIM:109130
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Albinism-Deafness Syndrome	Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism	OMIM:300700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimu...	ORPHA:90793
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia...	OMIM:607685
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom...	ORPHA:319487
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph...	OMIM:130650
Nephronophthisis 18	Hydrocephalus, Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basemen...	OMIM:615862
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel...	ORPHA:2885
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, female, Decreased circulating cortisol level, Increased circulating renin le...	ORPHA:90791
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Abnormalit...	ORPHA:2183
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Elejalde Neuroectodermal Melanolysosomal Syndrome	Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos...	OMIM:256710
Burkitt Lymphoma	Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased...	ORPHA:543
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al...	ORPHA:3453
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hypoplastic toenails, Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepato...	OMIM:608836
Griscelli Syndrome	Abnormal eyebrow morphology, Hydrocephalus, Premature graying of hair, Hepatomegaly, Splenomegaly...	ORPHA:381
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Heterotaxy, Visceral, 1, X-Linked	Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ven...	OMIM:306955
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles	OMIM:601706
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Congenital Rubella Syndrome	Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Aplasia/Hypoplasia o...	ORPHA:290
Primary Pigmented Nodular Adrenocortical Disease	Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu...	ORPHA:189439
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	ORPHA:2786
Pineocytoma	Hydrocephalus, Increased CSF protein	ORPHA:251912
Microphthalmia, Syndromic 12	Bicornuate uterus, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Microphthalm...	OMIM:615524
Hemochromatosis, Type 1	Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadis...	OMIM:235200
Edinburgh Malformation Syndrome	Hydrocephalus, Jaundice, Frontal hirsutism	OMIM:129850
Infantile Sialic Acid Storage Disease	Hydrocephalus, Nephrotic syndrome, Fair hair, Hepatomegaly, Splenomegaly, Hypopigmentation of the...	OMIM:269920
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201910
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Autoimmune Lymphoproliferative Syndrome, Type Iii	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD...	OMIM:615559
Glycogen Storage Disease Ib	Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ...	OMIM:232220
Cardiac-Urogenital Syndrome	Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral crypt...	OMIM:618280
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis	OMIM:215045
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo...	OMIM:609734
Macrosomia With Microphthalmia, Lethal	Microphthalmia	OMIM:248110
Paget Disease Of Bone 3	Patchy osteosclerosis, Osteolysis, Fractures of the long bones	OMIM:167250
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes	ORPHA:33111
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu...	ORPHA:449395
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene...	OMIM:308750
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density	OMIM:231095
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Cardiomegaly, Macroorchidism	OMIM:300886
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, A...	ORPHA:2470
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa...	OMIM:603552
Nanophthalmos 4	Microphthalmia	OMIM:615972
Mmep Syndrome	Ventricular septal defect, Cryptorchidism, Microphthalmia	ORPHA:3434
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Decreased response to growth ...	OMIM:220210
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma...	ORPHA:276280
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Osteopetrosis	OMIM:600329
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Trimethylaminuria	Trimethylaminuria, Anemia, Neutropenia, Splenomegaly	OMIM:602079
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Osteogenesis Imperfecta, Type Xiii	Osteoporosis, Increased bone mineral density, Joint hypermobility	OMIM:614856
Waardenburg Syndrome, Type 4A	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:277580
Piebald Trait	Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi...	OMIM:172800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona...	OMIM:308700
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymph nodes, Abnormality of the kidney, Abnormality of the lymphatic system, A...	ORPHA:54251
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Follicular Lymphoma	Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly	ORPHA:545
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy	ORPHA:100025
Mental Retardation, Buenos Aires Type	Hydrocephalus, Fair hair, Blue irides, Atrial septal defect, Intrahepatic biliary atresia, Hyposp...	OMIM:249630
Carcinoma Of Esophagus	Lymphadenopathy	ORPHA:70482
Tyrosinemia Type 1	Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Meckel Syndrome, Type 3	Hydrocephalus, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal pla...	OMIM:607361
Biemond Syndrome Type 2	Hydrocephalus, Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism	ORPHA:141333
Splenoportal Vascular Anomalies	Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven...	OMIM:271500
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog...	OMIM:615234
Buschke-Ollendorff Syndrome	Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ...	ORPHA:1306
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Wide anterior fontanel, Abnormal bone ossification, Increased bone mineral density, Delayed patel...	ORPHA:163649
Holoprosencephaly 5	Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Synophrys, Semilobar...	OMIM:609637
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count	OMIM:618261
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Ven...	OMIM:610333
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urinary delta-aminolevu...	OMIM:276700
Congenital Fibrinogen Deficiency	Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst...	ORPHA:335
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic...	ORPHA:71526
Faciothoracogenital Syndrome	Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia	OMIM:227320
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula...	OMIM:103900
Galactosemia Iii	Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice	OMIM:230350
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White...	ORPHA:897
Bone Marrow Failure Syndrome 5	Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism	OMIM:618165
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria	OMIM:105200
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta...	ORPHA:731
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Ataxia-Telangiectasia	Premature graying of hair, Type II diabetes mellitus, Multiple cafe-au-lait spots, Hypopigmentati...	ORPHA:100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Nephrotic syndrome, Hypertrichosis, Abnormality of retinal pigmentation, Atrial se...	ORPHA:505248
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol...	OMIM:200995
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C...	OMIM:300853
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ...	ORPHA:33445
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:417
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone...	ORPHA:100083
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort...	OMIM:615830
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Immunodeficiency 64	Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ...	OMIM:618534
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:79238
Diabetic Embryopathy	Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Tetralogy of Fallot, A...	ORPHA:1926
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hydrocephalus, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic fail...	OMIM:615630
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Anemia, Cardiomyopathy	OMIM:613313
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome	OMIM:202110
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Micropenis, Anencephaly, Renal dysplasia, Renal cyst, Ventriculomegaly, Hydronephr...	OMIM:615287
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Micropenis, Hypospadias, Male pseudohermaphroditism, Absent scrotum, Adrenal hyper...	OMIM:201810
Albinism-Deafness Syndrome	Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk...	ORPHA:998
Diencephalic Syndrome	Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Long penis	ORPHA:1672
Griscelli Syndrome Type 2	Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial albi...	ORPHA:79477
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Central Precocious Puberty	Hydrocephalus, Premature thelarche, Isosexual precocious puberty, Abnormality of secondary sexual...	ORPHA:759
Diaphanospondylodysostosis	Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast...	OMIM:608022
Bresek Syndrome	Hydrocephalus, Alopecia, Hypoplasia of the bladder, Renal dysplasia, Renal hypoplasia, Decreased ...	ORPHA:85284
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy	OMIM:613101
Otopalatodigital Syndrome Type 1	Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo...	ORPHA:90650
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari...	OMIM:256550
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Hypoplastic toenails, Hydrocephalus, Aplasia/Hypoplasia of the eyebrow, Pulmon...	ORPHA:2701
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Cardiomyopathy, Hypogonadism	OMIM:608540
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating...	ORPHA:90790
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex...	OMIM:602450
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hepatomegaly, Splenomegaly, Alopecia, Abnormality of the nail, Hypop...	ORPHA:2584
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count	OMIM:618982
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlar...	ORPHA:251004
Complete Androgen Insensitivity Syndrome	Blind vagina, Sparse axillary hair, Absent pubic hair, Sparse pubic hair, Female external genital...	ORPHA:99429
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M...	OMIM:614470
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopig...	ORPHA:177910
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,...	OMIM:202010
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Hyperpigme...	OMIM:609981
Piebaldism	Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal...	ORPHA:2884
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:79435
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni...	OMIM:601186
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom...	ORPHA:85450
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu...	ORPHA:189427
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret...	ORPHA:1046
Glycogen Storage Disease Ia	Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232200
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation of hair, F...	ORPHA:2221
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Immunodeficiency 7	Lymphadenopathy, Hypereosinophilia	OMIM:615387
Band Heterotopia	Hydrocephalus, Ventriculomegaly	OMIM:600348
Vogt-Koyanagi-Harada Disease	Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ...	ORPHA:3437
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Endocardial fibroelastosis, Hypoglycemia, Decreased carnitine level in liver, Impai...	OMIM:212140
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat...	OMIM:616217
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology	ORPHA:482
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Hepatomegaly	OMIM:300884
X-Linked Sideroblastic Anemia	Glucose intolerance, Anemia, Splenomegaly	ORPHA:75563
Immunodeficiency 105	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp...	OMIM:619924
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice	OMIM:620010
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Adams-Oliver Syndrome 4	Ventricular septal defect, Atrial septal defect, Microphthalmia	OMIM:615297
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Hypercalciuria, Adrenal hyperplasia, Abnormal circulating renin, Gl...	ORPHA:251274
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Dilated cardiomyopathy, Azo...	OMIM:602390
Microphthalmia, Isolated, With Coloboma 6	Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia	OMIM:613703
Pallister-Hall-Like Syndrome	Hydrocephalus, Micropenis, Anterior hypopituitarism, Renal dysplasia, Occipital encephalocele, Ab...	OMIM:241800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Nephrolithiasis, Ventricular septal defect, Adrenal hyperplasia, Abnormal circulating renin, Vent...	ORPHA:369929
Nephronophthisis 13	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In...	OMIM:614377
Genitopalatocardiac Syndrome	Abnormal cardiac septum morphology, Hydrocephalus, Gonadal dysgenesis, male, Hypospadias, Male ps...	ORPHA:2075
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Insulin resistance, Hepatic st...	OMIM:612526
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o...	ORPHA:79084
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela...	OMIM:601375
Beckwith-Wiedemann Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Adrenocortical ...	ORPHA:116
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly, Hypopigmentation of t...	OMIM:618541
Dysosteosclerosis	Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio...	ORPHA:1782
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Alg9-Cdg	Hypertrichosis, Hypoplasia of the ovary, Ureteral hypoplasia, Hepatomegaly, Atrial septal defect,...	ORPHA:79328
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr...	ORPHA:97289
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, ...	OMIM:609757
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Hypospadias, Ventricular septal defect, Horseshoe kidney, Ventriculomegaly, Crypto...	OMIM:218350
Xk Aprosencephaly Syndrome	Ventricular septal defect, Atrial septal defect, Abnormal external genitalia, Microphthalmia	ORPHA:3469
Gómez-López-Hernández Syndrome	Hydrocephalus, Toenail dysplasia, Alopecia of scalp	ORPHA:1532
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly	OMIM:240500
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Long eyelashes, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Cryptorchidism, Frontal encephalocele	ORPHA:261102
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Hirsutism, Hypospadias, Ventriculomegaly, Cryptorchidism, Abnormal heart morphology	OMIM:175700
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymp...	OMIM:618495
Meckel Syndrome, Type 6	Aplasia of the bladder, Hydrocephalus, Anencephaly, Hepatic cysts, Renal cyst, Absent gallbladder...	OMIM:612284
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ...	ORPHA:98848
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli...	OMIM:121300
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Ventriculom...	ORPHA:96181
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Combined Oxidative Phosphorylation Deficiency 33	Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly	OMIM:617713
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Hypogonadism	ORPHA:1875
Leprechaunism	Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hypercalciuria, L...	ORPHA:508
Cold Agglutinin Disease	Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pathologic fractu...	OMIM:259700
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cirrhosis, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Thrombo...	OMIM:613987
Hurler-Scheie Syndrome	Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy...	ORPHA:93476
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Decreased circulating androgen concentration, Abnormal external genitalia, Decreas...	ORPHA:95699
Diastrophic Dysplasia	Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density	ORPHA:628
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome...	OMIM:616860
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Heme Oxygenase 1 Deficiency	Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hematuria, H...	OMIM:614034
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Microphthalmia, Bilateral ...	OMIM:618652
Albers-Schönberg Osteopetrosis	Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Osteoarthritis, Arthritis, Generali...	ORPHA:53
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Vaginal fistula, Unilateral microphthalmos, Horseshoe kidney, Bilateral mi...	OMIM:619318
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Polycystic ovar...	ORPHA:79259
Triploidy	Abnormal cardiac septum morphology, Hydrocephalus, Hepatomegaly, Hypoplasia of penis, Holoprosenc...	ORPHA:3376
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Blue irides, Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Cryptorchidism...	OMIM:614613
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney	ORPHA:79128
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-...	ORPHA:403
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Meckel Syndrome, Type 4	Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Renal cyst, Meningoc...	OMIM:611134
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Pseudo-Torch Syndrome 3	Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Acute kidney injury, Proteinuria, Anemi...	OMIM:618886
Generalized Glucocorticoid Resistance Syndrome	Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased circulating cor...	ORPHA:786
Fanconi Anemia, Complementation Group I	Atrial septal defect, Decreased response to growth hormone stimulation test, Microphthalmia, Opti...	OMIM:609053
Coach Syndrome 2	Hydrocephalus, Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase...	OMIM:619111
Metaphyseal Dysplasia, Braun-Tinschert Type	Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan...	ORPHA:85188
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Testicular...	ORPHA:83469
Dextrocardia With Unusual Facies And Microphthalmia	Dextrocardia, Anophthalmia, Microphthalmia	OMIM:221950
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement...	ORPHA:93284
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca...	OMIM:252920
Lymphoproliferative Syndrome 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ...	OMIM:615122
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Waardenburg Syndrome Type 1	Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia...	ORPHA:894
Wolfram Syndrome 1	Megaloblastic anemia, Testicular atrophy, Hydroureter, Pigmentary retinopathy, Thrombocytopenia, ...	OMIM:222300
Pentalogy Of Cantrell	Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Renal agenesis, Hypospadias...	ORPHA:1335
Dextrocardia	Hydrocephalus, Abnormality of the ureter, Abnormality of the spleen, Abnormal renal morphology, P...	ORPHA:1666
Oculocutaneous Albinism	Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ...	ORPHA:55
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia, Cryptorchidism	ORPHA:171839
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus	OMIM:258320
Griscelli Syndrome Type 1	Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair	ORPHA:79476
Functioning Gonadotropic Adenoma	Increased serum testosterone level, Hydrocephalus, Adrenocorticotropic hormone deficiency, Abnorm...	ORPHA:91348
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Anencephaly, Severe hydr...	OMIM:236680
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex reversal, Renal agenesis, Hypospadias, Hypoplasia of the bladder, Ovotestis, Ventricular sept...	OMIM:611812
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Hyperechogenic kidneys, Microphthalmia	OMIM:617914
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut...	OMIM:603909
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Temple Syndrome	Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon...	ORPHA:254516
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Attrv30M Amyloidosis	Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology	ORPHA:85447
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Long eyelashes, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorch...	OMIM:618577
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Microphthalmia	ORPHA:195
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Aminoaciduria, Splenomegaly	ORPHA:664
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Biemond Syndrome Ii	Hydrocephalus, Abnormality of the endocrine system	OMIM:210350
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabete...	OMIM:301078
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Increased CSF lactate, Hypopigmentation of hair, Abnormal reproductive ...	ORPHA:70472
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Gene: Naa10 MGI:1915255

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Histopathology

Human diseases caused by Naa10 mutations