Gene Summary

Name:
neurofibromin 1
Synonyms:
neurofibromin,  Dsk9,  Nf-1,  Mhdadsk9

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
preweaning lethality, complete penetrance Nf1tm1a(KOMP)Wtsi HOM   Early adult 0.00

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lacZ Expression

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.55% (3 of 541)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 0.56% (3 of 531)
brainstem 0.37% (2 of 538)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 534)
cerebellum 0.56% (3 of 538)
cerebral cortex 0.37% (2 of 541)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 545)
hippocampus 0.55% (3 of 544)
hypothalamus 0.38% (2 of 533)
kidney 3.33% (18 of 540)
large intestine 1.83% (10 of 545)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 541)
lymph node 0.19% (1 of 537)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.19% (1 of 531)
ovary 0.18% (1 of 544)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.2% (1 of 497)
peripheral nervous system 0.37% (2 of 535)
peyer's patch 0.6% (1 of 166)
pituitary gland 0.18% (1 of 542)
prostate gland 2.21% (12 of 544)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 537)
small intestine 1.64% (9 of 548)
spinal cord 0.56% (3 of 536)
spleen 0.56% (3 of 536)
stomach 2.24% (12 of 536)
striatum 0.56% (3 of 535)
testis 0.92% (5 of 544)
thymus 0.0%
thyroid gland 2.93% (16 of 546)
trachea 0.56% (3 of 535)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

12 Images

Legacy Phenotype Associated Images

View all 126 images

View all 48 images

Human diseases caused by Nf1 mutations

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

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

The table below shows human diseases predicted to be associated to Nf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Tumor Predisposition Syndrome
Lung adenocarcinoma, Cutaneous melanoma, Meningioma, Uveal melanoma, Renal cell carcinoma OMIM:614327
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Jaundice, Pheochromocytoma OMIM:162240
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Chemodectoma, Retroperitoneal chemodectomas, Cutaneous angiolipomas OMIM:118350
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Glioma Susceptibility 9
Astrocytoma, Glioma, Leukemia OMIM:616568
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Alzheimer Disease 10
Dementia, Memory impairment OMIM:609636
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Lymphoma, Monoclonal immunoglobulin M proteinemia, Leukemia, Impaired lymphocyte transformation w... OMIM:153600
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618341
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618152
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618153
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617576
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617593
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617592
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Refr... OMIM:133180
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Schwannomatosis 2
Spinal cord tumor, Schwannoma OMIM:615670
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Paragangliomas 5
Paraganglioma OMIM:614165
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Nf1-Microdeletion syndrome
Neurofibromas DECIPHER:15
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Paragangliomas 3
Chemodectoma, Neoplasm, Elevated circulating catecholamine level, Glomus jugular tumor, Extraadre... OMIM:605373
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Isochromosomy Yq
Varicocele, Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia, Gonada... ORPHA:98798
Paragangliomas 1
Chemodectoma, Glomus tympanicum paraganglioma, Glomus jugular tumor, Vagal paraganglioma, Extraad... OMIM:168000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Medullary Thyroid Carcinoma
Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Neoplasm of the sk... ORPHA:1332
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Acute myeloid leukemia, Colon cancer OMIM:246470
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
N Syndrome
Cryptorchidism, Leukemia, Neoplasm OMIM:310465
Paragangliomas 4
Gastrointestinal stroma tumor, Chemodectoma, Paraganglioma, Neuroblastoma, Paraganglioma of head ... OMIM:115310
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Fanconi Anemia, Complementation Group G
Leukemia, Neutropenia, Anemia, Myelodysplasia, Thrombocytopenia OMIM:614082
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Multiple myeloma, Brain neoplasm, Squamous cell carcinoma of the skin,... ORPHA:79140
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Carney Complex, Type 1
Schwannoma, Cardiac myxoma, Myxoid subcutaneous tumors, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neurofibromatosis, Type I
Plexiform neurofibroma, Rhabdomyosarcoma, Neurofibrosarcoma, Neurofibromas, Spinal neurofibromas,... OMIM:162200
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Short distal phalanx of fi... OMIM:311895
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia ORPHA:90026
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Microphallus, Decr... OMIM:614840
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Pulmonary fibrosis, Aplastic anemia, Myeloid leukemia, Cirrhosis OMIM:614743
Fetal Parvovirus Syndrome
Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites ORPHA:295
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Hepatom... OMIM:614470
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Primary amenorrhea, Cr... ORPHA:755
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Glossoptosis, Abnorma... ORPHA:3104
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Lymphoma, Acute myeloid leukemia, Myelodysplasia, Refractory anemia OMIM:616871
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Myelodysplasia, Acute lymphoblastic leukemia OMIM:610738
Von Hippel-Lindau Syndrome
Spinal hemangioblastoma, Paraganglioma, Pulmonary capillary hemangiomatosis, Papillary cystadenom... OMIM:193300
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... OMIM:146110
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Non-Hodgkin lymphoma, Neuroblastoma, Rhabdomyosarcoma, Leukemia, Lymphoma... OMIM:276300
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myelodysplasia, Aplastic anemia, Myeloid le... OMIM:614172
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Myelodysplasia, Acute leukemia, Thr... ORPHA:231401
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Myelodysplasia, Multiple lineage myelodysplasia ORPHA:98827
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Colon cancer, Anemia, Neoplasm of the lung, Hodgkin lymphoma, Thro... ORPHA:158057
Partington Syndrome
Macroorchidism ORPHA:94083
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Kaposi Sarcoma, Susceptibility To
Hypermelanotic macule, Edema OMIM:148000
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Goiter, Neoplasm of the adrenal cortex, Chondrosarcoma, Heman... ORPHA:163634
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Premature birth... ORPHA:1909
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly ORPHA:98848
Lymphedema, Primary, With Myelodysplasia
Myelodysplasia, Pancytopenia, Leukemia OMIM:614038
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Mye... OMIM:619041
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Bazex Syndrome
Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Oligohydramnios, Hypertrophic cardiomyopath... OMIM:615415
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Lymphoma, Acute myeloid leukemia, Abnormal dense granule content, Thrombocytopenia... OMIM:601399
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pleural... ORPHA:2414
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Plexiform neurofibroma, Subcutaneous neurofibromas, Neurofibrosarcoma, Neurofibromas, Spinal neur... OMIM:613675
Paragangliomas 2
Chemodectoma, Neoplasm, Glomus tympanicum paraganglioma, Glomus jugular tumor, Vagal paraganglioma OMIM:601650
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Primary Effusion Lymphoma
Pleural effusion, Abnormality of the peritoneum, Pericardial effusion, Dyspnea ORPHA:48686
Hereditary Breast And Ovarian Cancer Syndrome
Primary peritoneal carcinoma, Melanoma, Breast carcinoma, Ovarian neoplasm, Prostate cancer, Neop... ORPHA:145
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Polyhydramnios, Preeclampsia, Pericarditis, Pallor, Oligohydramnios ORPHA:163596
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Medullary thyroid carcinoma, Parathyroid adenoma, Pheochromocytoma, H... OMIM:171400
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Rig... OMIM:115197
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Abnormality of male internal genitalia, Bilateral cryptorchidism OMIM:261550
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cognitive impairment, Ataxia, Truncal ataxia OMIM:617584
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Carney Triad
Gastrointestinal stroma tumor, Paraganglioma, Leiomyosarcoma, Adrenal overactivity, Anemia, Pheoc... ORPHA:139411
Serrated Polyposis Syndrome
Bladder carcinoma, Colorectal polyposis, Schwannoma, Melanoma, Breast carcinoma, Biliary tract ne... ORPHA:157798
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, Ve... ORPHA:3405
Wild Type Attr Amyloidosis
Nephrotic syndrome, Arrhythmia, Proteinuria, Congestive heart failure, Abnormal EKG, Autonomic bl... ORPHA:330001
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Hepatomegaly, Pleural effusio... ORPHA:50251
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Grfoma
Intestinal carcinoid, Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased ci... ORPHA:97261
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Macrocytic anemia, Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality ... ORPHA:86841
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Abnormal heart valve morphology, Airway obstruction, H... ORPHA:36412
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Microphthalmia, Syndromic 9
Hydronephrosis, Single ventricle, Ventricular septal defect, Right aortic arch with mirror image ... OMIM:601186
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Wt Limb-Blood Syndrome
Pancytopenia, Leukemia, Hypoplastic anemia, Cryptorchidism, Thrombocytopenia OMIM:194350
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Coarctation of aorta, Premature... ORPHA:101028
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins,... OMIM:617300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Microcephaly, Ventricular septal defect, Truncus arte... OMIM:601355
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Respiratory failure, Ventricular septal defect, Truncus arteriosus,... OMIM:228940
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Infertility, Decreased female libido, Amenorrhea, Panhypopituitarism,... ORPHA:91348
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Restrictive cardiomyopathy, Pulmonic stenosis, Ascites OMIM:619433
Retinitis Pigmentosa 42
Pallor OMIM:612943
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth, Ureteral agenesis, Truncus arteriosus OMIM:274210
Auriculocondylar Syndrome 2
Narrow mouth, Cleft at the superior portion of the pinna, Low-set ears, Overfolding of the superi... OMIM:614669
Gombo Syndrome
Microphthalmia, Abnormal heart morphology, Microcephaly OMIM:233270
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Microcephaly, Ascites, Edema, Peri... OMIM:608776
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Hepatomegaly, Pleural effusio... OMIM:235200
17Q11 Microdeletion Syndrome
Gastrointestinal stroma tumor, Plexiform neurofibroma, Neurofibrosarcoma, Atypical neurofibromato... ORPHA:97685
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Increased glucagon level, Glucagonoma, Neoplas... ORPHA:438274
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Congenital Macroglossia
Neurofibromas, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia OMIM:605724
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Decreased nerve conduction velocity, Neutropenia, Anemia, Throm... OMIM:159550
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Retinitis Pigmentosa 81
Pallor OMIM:617871
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:147630
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Microcephaly, Bicuspid aortic... OMIM:612474
Adams-Oliver Syndrome 6
Portal hypertension, Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Tricuspid r... OMIM:616589
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Liposarcoma
Sarcoma ORPHA:69078
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Micropenis, Hypergonadotropic hypogonadism, Decreased testicular size OMIM:601217
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Desmoplastic Small Round Cell Tumor
Sarcoma, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous sys... ORPHA:83469
Kaposiform Lymphangiomatosis
Epistaxis, Enlarged kidney, Subconjunctival hemorrhage, Hepatosplenomegaly, Bruising susceptibili... ORPHA:464329
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:615355
Immunodeficiency 36
Splenomegaly, B-cell lymphoma, Bronchiectasis, Recurrent respiratory infections, Chronic lymphati... OMIM:616005
Absence Of The Pulmonary Artery
Pedal edema, Atrial fibrillation, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmo... ORPHA:401935
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Hydrops fetalis OMIM:618052
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Cirrhosis, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Anemi... OMIM:614742
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Peripheral edema, Crac... ORPHA:79126
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Q Fever
Abnormal vascular morphology, Hepatitis, Abnormal pulmonary interstitial morphology, Abnormal lef... ORPHA:781
Infantile Myofibromatosis
Sarcoma, Fibroma, Gingival fibromatosis, Benign neoplasm of the central nervous system, Neoplasm ... ORPHA:2591
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Hypertrophic cardiomyopathy, T... OMIM:201475
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Medulloblastoma, Pleuropulmonary blastoma OMIM:601200
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Thyroid nodule, Adenomato... ORPHA:247806
Pheochromocytoma
Hemangioma, Pheochromocytoma, Neoplasm OMIM:171300
Fragile X Syndrome
Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegal... OMIM:619644
Pseudo-Torch Syndrome 2
Petechiae, Patent ductus arteriosus, Abnormal renal corticomedullary differentiation, Bradycardia... OMIM:617397
Large Congenital Melanocytic Nevus
Sarcoma, Rhabdomyosarcoma, Cutaneous melanoma, Neoplasm, Neoplasm of the skin ORPHA:626
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Polyembryoma
Irregular menstruation, Macroorchidism, Isosexual precocious puberty ORPHA:180229
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Redundant neck skin OMIM:619003
Asbestos Intoxication
Pleural thickening, Lung adenocarcinoma, Interlobular septal thickening, Pulmonary fibrosis, Mali... ORPHA:2302
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Abnormal pulmonary vein morphology, Hypoxemia, Diffuse alveo... ORPHA:199241
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Non-Functioning Pituitary Adenoma
Irregular menstruation, Panhypopituitarism, Erectile dysfunction, Adrenocorticotropic hormone def... ORPHA:91349
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Micropenis, Renal hypoplasia, Pulmonic stenosis, ... OMIM:609029
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Micropenis, Hydronephrosis, Hydrops fetalis, Hypertrophic cardiomyopathy, Pl... OMIM:616897
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Pneumonia, Leukemia, Monocytosis, Acute myeloid leukemia, Hemangioma, Neutropenia, ... ORPHA:486
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Cranial nerve compression, Extraadrenal pheochromo... ORPHA:276621
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertrophic cardiomyopathy, Fetal ... OMIM:618815
Multiple Acyl-Coa Dehydrogenase Deficiency
Increased circulating lactate dehydrogenase concentration, Lacticaciduria, Hepatic periportal nec... ORPHA:26791
Retinoblastoma
Ewing sarcoma, Leukemia, Lymphoma, Pinealoma, Osteosarcoma, Retinoblastoma OMIM:180200
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Myelodysplasia, Thrombocytopenia OMIM:619151
Tuberous Sclerosis Complex
Renal angiomyolipoma, Cortical tubers, Cardiac rhabdomyoma, Retinal astrocytic hamartoma, Pulmona... ORPHA:805
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Macroglossia, Ventricular septal defect, Mitral regurgitation, Cardi... ORPHA:363705
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, Hyp... OMIM:229070
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Glioma Susceptibility 3
Astrocytoma, Medulloblastoma, Glioblastoma multiforme OMIM:613029
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Microcephaly, Ventricular septal defect, Truncus arteriosus, Abnormal... ORPHA:2516
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Pleural effusion, Hepatomegaly, Lymphadenopathy, Pericarditis, Joint swelling ORPHA:85414
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Hematuria, Patent ductus arteriosus, Atrial septal defect, H... ORPHA:90308
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Chylothorax, Arteriovenous fistula, High-output congestive heart failure, Congesti... ORPHA:137667
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma OMIM:603641
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrial fibrillation, Cardiomegaly, Holosystolic murmur, Arrhythmia, Com... ORPHA:1677
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Neuroendocrine neoplasm, Inappropr... ORPHA:100083
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Retinitis Pigmentosa 60
Pallor OMIM:613983
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Hypothyroidism, Carcinoma, Hashimoto thyroiditis, Parathyroid adenoma, Panc... OMIM:610755
Aicardi-Goutieres Syndrome 9
Proteinuria, Microcephaly, Hypertension, Ascites, Stage 5 chronic kidney disease, Left ventricula... OMIM:619487
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Turcot Syndrome With Polyposis
Hepatoblastoma, Colon cancer, Lymphoma, Papilledema, Pilomatrixoma, Adenomatous colonic polyposis... ORPHA:99818
Neurofibromatosis Type 1
Multiple lipomas, Plexiform neurofibroma, Neoplasm of the gastrointestinal tract, Leukemia, Sarco... ORPHA:636
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Hydrops fetalis, Decreased fetal movement, Polyhydramnios, Cardiomyopath... OMIM:232500
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Flexion contracture, Cardiomyopathy OMIM:608540
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Hypoplastic left heart, Ventricular ... OMIM:265380
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Increased urinary ... ORPHA:1501
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Thyroid n... ORPHA:79665
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system, Anemia, T... ORPHA:69077
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Pelvic bone exostoses, Peripheral nerve c... OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Pelvic bone exostoses, Peripheral nerve c... OMIM:133700
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Respiratory failure, Proximal amyo... OMIM:253300
Systemic Capillary Leak Syndrome
Oliguria, Arrhythmia, Myocarditis, Cough, Rhinorrhea, Pleural effusion, Hypotension, Pedal edema,... ORPHA:188
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma, Elevated calcitonin, Paraganglioma of head and neck, Cr... ORPHA:29072
Fragile X Syndrome
Macroorchidism ORPHA:908
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Emanuel Syndrome
Unilateral renal agenesis, Hydrocephalus, Multiple joint contractures, Patent ductus arteriosus, ... ORPHA:96170
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Hydrops fetalis, Myocarditis, Pleural effusion, Hypotension, Polyhy... ORPHA:292
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion OMIM:602248
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614880
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Congenital Toxoplasmosis
Hydrocephalus, Hepatomegaly, Jaundice, Microphthalmia, Microcephaly, Elevated hepatic transaminas... ORPHA:858
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Left supe... OMIM:613759
Multiple Endocrine Neoplasia, Type Iib
Elevated calcitonin, Medullary thyroid carcinoma, Pheochromocytoma, Parathyroid hyperplasia, Gang... OMIM:162300
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Lung abscess, Congestive heart failur... ORPHA:67
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis, Bilateral conductive hearing impairment, Question mark ear OMIM:615706
Lymphatic Malformation 6
Chylothorax, Intestinal lymphangiectasia, Atrial septal defect, Nonimmune hydrops fetalis, Spleno... OMIM:616843
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Respiratory failure requir... ORPHA:555874
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Hypogonadism, Acute leukemia, Testicular seminoma ORPHA:281090
Thymoma
Neoplasm of the gastrointestinal tract, Non-Hodgkin lymphoma, Neoplasia of the pleura, Leukemia, ... ORPHA:99867
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Ectopic kidney, Horseshoe kidney, Atrial septal defect, Hydronephros... OMIM:235510
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, ... OMIM:617478
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Subcutaneous neurofibromas, Neurofibrosarcoma, Spinal neurofibromas, Lisch nodules, H... ORPHA:363700
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis, Vascular ring,... OMIM:601927
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios, Ascites, Premature birth ORPHA:2123
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... OMIM:239850
Nanophthalmos 4
Microphthalmia OMIM:615972
Follicular Lymphoma
Splenomegaly, Pleural effusion, Lymphedema, Lymphadenopathy, Abnormality of the peritoneum, Media... ORPHA:545
Pediatric Systemic Lupus Erythematosus
Increased circulating lactate dehydrogenase concentration, Myositis, Nephrotic syndrome, Hematuri... ORPHA:93552
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Splenogonadal fusion, Hors... OMIM:156810
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Micropenis, Pericardial effusion, Pectus excavatum OMIM:614684
Gaucher Disease Type 1
Abnormal myocardium morphology, Bruising susceptibility, Biliary tract obstruction, Proteinuria, ... ORPHA:77259
Aortic Arch Interruption
Tachypnea, Right bundle branch block, Double outlet right ventricle, Single ventricle, Pedal edem... ORPHA:2299
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Medullary thyroid carcinoma, Paraganglioma of head and neck, Parathyr... ORPHA:653
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Hepatomegaly,... ORPHA:3226
Legius Syndrome
Multiple lipomas, Ovarian neoplasm, Desmoid tumors, Non-small cell lung carcinoma, Acute monocyti... ORPHA:137605
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema OMIM:616570
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Myoglobinuria, Decreased ... OMIM:231530
Neurofibroma
Palmar neurofibromas, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Neoplasi... ORPHA:252183
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Achondrogenesis, Type Ib
Hydrops fetalis, Breech presentation, Polyhydramnios, Edema, Stillbirth OMIM:600972
Double Outlet Right Ventricle
Tetralogy of Fallot, Tachypnea, Double outlet right ventricle, Pulmonic stenosis, Coarctation of ... ORPHA:3426
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Catel-Manzke Syndrome
Metatarsus valgus, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Glossoptosi... ORPHA:1388
Hemifacial Atrophy, Progressive
Tongue atrophy, Delayed eruption of teeth, Microtia, Poliosis, Dental malocclusion, Short mandibu... OMIM:141300
Auriculocondylar Syndrome 1
Narrow mouth, Cupped ear, Cleft at the superior portion of the pinna, Low-set ears, Overfolding o... OMIM:602483
Lymphoproliferative Syndrome 1
Splenomegaly, Pleural effusion, Hepatomegaly, Lymphadenopathy, Pericardial effusion OMIM:613011
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Multiple myeloma, Normocytic anemia, L... ORPHA:98849
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:616564
Hemochromatosis, Neonatal
Hepatic failure, Cholestasis, Oligohydramnios, Nonimmune hydrops fetalis, Hepatocellular necrosis... OMIM:231100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... OMIM:618845
Familial Melanoma
Neoplasm of the breast, Neoplasm of the stomach, Melanoma, Neoplasm of the pancreas ORPHA:618
Chondrodysplasia, Blomstrand Type
Hydrops fetalis, Polyhydramnios, Premature birth, Stillbirth OMIM:215045
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
African Iron Overload
Viral hepatitis, Hepatic steatosis, Congestive heart failure, Hepatic bridging fibrosis, Peritoni... ORPHA:139507