Gene Summary

Name:
transmembrane protein 237
Synonyms:
Als2cr4,  LOC381259

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal heart morphology Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Tmem237tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal testis morphology Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal adrenal gland morphology Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
embryonic lethality prior to tooth bud stage Tmem237tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
long tibia Tmem237tm1b(EUCOMM)Hmgu HET Early adult 1.02×10-06
abnormal mammary gland morphology Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
enlarged lymph nodes Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
small testis Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
embryonic lethality prior to organogenesis Tmem237tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
enlarged heart Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal brain morphology Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
small adrenal glands Tmem237tm1b(EUCOMM)Hmgu HET Early adult 0.00
increased freezing behavior Tmem237tm1b(EUCOMM)Hmgu HET Early adult 3.79×10-09
increased brain size Tmem237tm1b(EUCOMM)Hmgu HET 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  Section images heterozygote 0.0% (0 of 2)
Aorta  Section images heterozygote 0.0% (0 of 2)
Bone  Section images heterozygote 0.0% (0 of 2)
Brain  Section images heterozygote 0.0% (0 of 2)
Brainstem  Section images heterozygote 0.0% (0 of 2)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 2)
Cartilage tissue  Section images heterozygote 0.0% (0 of 2)
Cecum  Section images heterozygote 0.0% (0 of 2)
Cerebellum  Section images heterozygote 0.0% (0 of 2)
Cerebral cortex  Section images heterozygote 0.0% (0 of 2)
Chest bone  Section images heterozygote 0.0% (0 of 2)
Colon  Section images heterozygote 0.0% (0 of 2)
Cranium  Section images heterozygote 0.0% (0 of 2)
Diaphragm  Section images heterozygote 0.0% (0 of 2)
Duodenum  Section images heterozygote 0.0% (0 of 2)
Esophagus  Section images heterozygote 0.0% (0 of 2)
Eye  Section images heterozygote 0.0% (0 of 2)
Gall bladder  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 0.0% (0 of 2)
Heart  Section images heterozygote 0.0% (0 of 2)
Hindlimb  Section images heterozygote 0.0% (0 of 2)
Hippocampus  Section images heterozygote 0.0% (0 of 2)
Hypothalamus  Section images heterozygote 0.0% (0 of 2)
Ileum  Section images heterozygote 0.0% (0 of 2)
Jejunum  Section images heterozygote 0.0% (0 of 2)
Kidney  Section images heterozygote 0.0% (0 of 2)
Large intestine  Section images heterozygote 0.0% (0 of 2)
Liver  Section images heterozygote 0.0% (0 of 2)
Lower urinary tract  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 0.0% (0 of 2)
Lymph node  Section images heterozygote 0.0% (0 of 2)
Mammary gland  Section images heterozygote 0.0% (0 of 2)
Olfactory lobe  Section images heterozygote 0.0% (0 of 2)
Oral epithelium  Section images heterozygote 0.0% (0 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 0.0% (0 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 2)
Peyer's patch  Section images heterozygote 0.0% (0 of 2)
Pituitary gland  Section images heterozygote 0.0% (0 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 0.0% (0 of 2)
Skeletal muscle  Section images heterozygote 0.0% (0 of 2)
Skin  Section images heterozygote 0.0% (0 of 2)
Small intestine  Section images heterozygote 0.0% (0 of 2)
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Spleen  Section images heterozygote 0.0% (0 of 2)
Stomach  Section images heterozygote 0.0% (0 of 2)
Striatum  Section images heterozygote 0.0% (0 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 0.0% (0 of 2)
Thyroid gland  Section images heterozygote 0.0% (0 of 2)
Tongue  Section images heterozygote 0.0% (0 of 2)
Trachea  Section images heterozygote 0.0% (0 of 2)
Urinary bladder  Section images heterozygote 0.0% (0 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 0.0% (0 of 2)
Vascular system  Section images heterozygote 0.0% (0 of 2)
White adipose tissue  Section images heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
cranium
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
vibrissa 1.35% (1 of 74)

Associated Images

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

Adult LacZ

LacZ Images Section

122 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Embryo LacZ

LacZ images wholemount

10 Images

Human diseases caused by Tmem237 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 Tmem237 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Clinodactyly of the 5th toe ORPHA:99977
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Ambiguous genitalia, Increased circulating ACTH level OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Ethanolaminosis
Cardiomegaly OMIM:227150
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... OMIM:202110
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Increased circulating cortisol level, A... OMIM:615830
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... ORPHA:319487
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genit... ORPHA:90791
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... ORPHA:97290
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Cardiac myxoma, Increased urinary cortisol level, Type II diabetes mellitus,... ORPHA:189439
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hypospadias, Adrenal hyperplasia, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... OMIM:201810
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Clinodactyly of the 5th toe ORPHA:99976
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Broad femoral head, Noncompaction cardiomyopath... ORPHA:353298
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Glucocortocoid-ins... ORPHA:251274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:608971
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Alopecia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Alopeci... OMIM:235200
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Spontaneous abortion, Clitoral hypertrophy, Congenital adrena... ORPHA:96181
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... OMIM:615954
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Ventricular septal defect, Ventricular hypertrophy, Abnormal circulating ren... ORPHA:369929
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Dilated cardiomyopathy, Hepatomegaly OMIM:615895
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia OMIM:619126
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Endometrial carcinoma,... ORPHA:90790
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia OMIM:602450
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Decreased circulating aldosterone level, Adrenal hyperplasia, Infertility, Increase... ORPHA:786
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Sex reversal, Adrenal gland agenesis, Ovotestis OMIM:611812
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Apathy,... ORPHA:465508
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Prominent eyelashes, Lymph... OMIM:616651
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Splenomegaly, Micropenis, Hepatosplenomega... OMIM:602782
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Talipes equinovarus, Metaphyseal irregularity, Long fibula, Iliac crest serration, S... OMIM:250220
Hydrolethalus Syndrome 1
Hypospadias, Complete atrioventricular canal defect, Abnormal vagina morphology, Upper limb under... OMIM:236680
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Adrenocorticotropic hormone e... OMIM:609981
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Short phalanx of finger, Short long bone, Flat acetabular ... OMIM:300106
Infantile Sialic Acid Storage Disease
Hepatomegaly, Metaphyseal irregularity, Cardiomegaly, Splenomegaly, Fair hair OMIM:269920
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Hypothyroidism, Cutaneo... OMIM:601005
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... OMIM:239850
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism OMIM:617713
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Recurrent tonsillitis, Splenomegaly OMIM:618852
Congenital Toxoplasmosis
Lymphadenopathy, Hepatomegaly, Cardiomegaly ORPHA:858
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy, Bone marrow hypocellularity OMIM:613987
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Mediastinal lymphadenopathy, Neoplasm of the thymus, Increased circulati... ORPHA:97289
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Aggressive behavior, Coarse hair, Cardiomegaly, Splenomegaly, Asymmetric... OMIM:252920
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Mast Cell Sarcoma
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly, Sparse hair OMIM:613576
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Thyroid Lymphoma
Goiter, Lymphadenopathy, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis ORPHA:97285
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Immunodeficiency 72 With Autoinflammation
Lymphadenopathy, Clubbing of fingers, Hepatosplenomegaly OMIM:618982
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Hirsutism, Atypical pulmonary carcinoid tumor, Neoplas... ORPHA:99889
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pan... ORPHA:83469
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Poems Syndrome
Hypertrichosis, Pericardial effusion, Lymphadenopathy, Abnormality of the endocrine system, Erect... ORPHA:2905
Acquired Hypertrichosis Lanuginosa
Fine hair, Ovarian neoplasm, Lymphadenopathy, Abnormal eyebrow morphology, Generalized hirsutism,... ORPHA:2221
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Adducted thumb, Talipes equinovarus, Hypoplasia of the thymus, Cardiom... OMIM:617022
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Alopecia, Splenomegaly, Hepatosplenom... OMIM:615559
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioven... ORPHA:324410
Tetraamelia Syndrome 1
Asplenia, Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atr... OMIM:273395
Medullary Thyroid Carcinoma
Lymphadenopathy, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevat... ORPHA:1332
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Lig4 Syndrome
Hepatomegaly, Type II diabetes mellitus, Low anterior hairline, Lymphadenopathy, Clinodactyly of ... ORPHA:99812
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency 64
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... OMIM:618534
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Mu-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Hyperextensibility o... OMIM:305400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Clinodactyly, Brachydactyly OMIM:618048
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Omenn Syndrome
Hepatomegaly, Lymphadenopathy, Alopecia, Abnormality of the metaphysis, Splenomegaly, Thyroiditis... ORPHA:39041
Mogs-Cdg
Hepatomegaly, Hirsutism, Inappropriate antidiuretic hormone secretion, External genital hypoplasi... ORPHA:79330
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Alopecia, Splenomegaly ORPHA:2584
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... ORPHA:860
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603552
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Adducted thumb, Decreased fi... OMIM:616897
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Thyroiditis, Splenomegaly OMIM:619375
Cushing Disease
Adrenal hyperplasia, Secondary amenorrhea, Increased urinary cortisol level, Oligomenorrhea, Hirs... ORPHA:96253
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hypoplasia of the femoral head, Lymphadenopathy, Splenomegaly, He... OMIM:209950
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Developmental And Epileptic Encephalopathy 95
Inappropriate crying, Highly arched eyebrow, Hepatomegaly, Cardiomegaly, Inappropriate laughter, ... OMIM:618143
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Cardiomyopathy, Limited mobility of proximal interphalang... OMIM:222300
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Cone-shaped epiphysis, Long fibula, Rhizomelic arm shortening, Iliac crest serration... ORPHA:93317
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Broad hallux phalanx, Low anterior hairline, Low posterior hairline,... ORPHA:1517
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Hypogonadism, Abnorm... ORPHA:85450
Omenn Syndrome
Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Alopecia, Splenomegaly OMIM:603554
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Cardiomegaly, Myocardial ... OMIM:253250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Cardiomegaly, Iliac crest serration, Hypoplastic ischia, Short long bone, Mi... OMIM:613320
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:613101
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular epiphyses, Small epiphyses, Hirsutism, Low anterior hairline, Metaphyseal irregularity,... OMIM:610442
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Abnormal calcification of the carpal bones, Metat... OMIM:271665
Schnitzler Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia, Epididymitis, Prostatitis OMIM:300755
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
H Syndrome
Hallux valgus, Hypertrichosis, Amenorrhea, Azoospermia, Lymphadenopathy, Alopecia, Abnormal eyebr... ORPHA:168569
Myotonic Dystrophy 1
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism OMIM:160900
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Hip dysplasia, Anxiety, Depression OMIM:618798
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hirsutism, Cardiomegaly, Arachnodactyly, Thin metatarsal cortices, Slender long bone, Thin metaca... ORPHA:2463
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:607594
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys OMIM:619064
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Greenberg Dysplasia
Epiphyseal stippling, Hepatosplenomegaly, Abnormal ossification involving the femoral head and ne... OMIM:215140
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:85414
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly OMIM:212140
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Sickle Cell Anemia
Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly OMIM:603903
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, 3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, Ab... ORPHA:158687
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Rhabdoid Tumor
Lymphadenopathy, Irritability ORPHA:69077
Indolent Systemic Mastocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Bicuspid aortic valve, Talipes equinovarus, Spatulate thumbs, Broad distal phalang... OMIM:245600
Griscelli Syndrome Type 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypopigmentation of hair, Premature graying of hair ORPHA:79477
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Griscelli Syndrome
Hepatomegaly, Silver-gray hair, Lymphadenopathy, White hair, Bone marrow hypocellularity, Abnorma... ORPHA:381
Lymphatic Filariasis
Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic... ORPHA:2035
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Talipes equinovarus, Hypoplastic scapulae, Metaphyseal... OMIM:252500
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypertrichosis, Pericardial effusion, Low anter... ORPHA:363705
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism, Triphalangeal thumb, Sirenomelia, Low anterior ha... ORPHA:79500
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Cardiomyopathy OMIM:266500
Bronchial Neuroendocrine Tumor
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Increased serum serotonin, Increased circ... ORPHA:97287
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Nail dystrophy, Alopecia, Splenomegaly ORPHA:3162
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:615122
Tularemia
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:614470
Pseudo-Torch Syndrome 3
Lymphadenitis, Cardiomegaly OMIM:618886
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Hallux valgus, Pineal cyst, Ventricular septal def... OMIM:300967
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Type I diabetes mellitus ORPHA:69126
Truncus Arteriosus
Adrenocortical abnormality, Ventricular septal defect, Truncus arteriosus, Right ventricular hype... ORPHA:3384
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... OMIM:306955
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Hepatomegaly, Cervical lymphadenopathy, Asplenia OMIM:614034
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Mediastinal lymphadenopathy, Lymphadenopathy, Parag... ORPHA:139411
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Paroxysmal bursts of laughter, Cardiomegaly ORPHA:391428
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadoblastoma, Cardiomegaly, ... OMIM:130650
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Yunis-Varon Syndrome
Hypospadias, Short middle phalanx of finger, Sparse eyelashes, Micropenis, Syndactyly, Short toe,... ORPHA:3472
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatosplenomegaly, Thyroiditis, Type I diabetes mellitus, Hypothyroidism, Alope... OMIM:606367
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... ORPHA:100080
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair, Long fibula, Abnormality of the metaphysis ORPHA:935
Mucopolysaccharidosis Type 3
Hepatomegaly, Hirsutism, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Aggr... ORPHA:581
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:308240
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Carcinoid Syndrome
Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Paragan... ORPHA:100093
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Lymph node hypoplasia ORPHA:276
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Lymphadenopathy, Splenomegaly, Abnormal heart valve morphology ORPHA:36412
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Leishmaniasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:3226
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pericardial effusion ORPHA:411703
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Impotence OMIM:105210
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Clubbing, Right atrial enlargement, Atrial septal defect, Muscular ventricular sept... ORPHA:439
Niemann-Pick Disease, Type A
Lymphadenopathy, Hepatomegaly, Irritability, Splenomegaly OMIM:257200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Thyroiditis, Type I diabetes mellitus... OMIM:614700
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Thick eyebrow, Coxa valga OMIM:230000
Cinca Syndrome
Lymphadenopathy, Hepatomegaly, Brachydactyly, Splenomegaly ORPHA:1451
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Hypertrichosis, Flexion contracture of toe, Hypoplastic scapulae, Ly... OMIM:256040
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes ORPHA:911
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hy... OMIM:603909
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Generalized l... ORPHA:829
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly OMIM:619644
Felty Syndrome
Hepatomegaly, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:47612
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Lymphadenopathy, Alopecia, ... ORPHA:809
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Tapered finger, Long fingers, Cardiomegaly, Tapered toe, Lo... OMIM:608836
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:549
Lymphoproliferative Syndrome 1
Lymphadenopathy, Hepatomegaly, Pericardial effusion, Splenomegaly OMIM:613011
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... ORPHA:100082
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy, Alopecia, Type I diabetes mellitus, Hypothyroidism OMIM:304790
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Apathy, Splenomegaly, Hepatosplenomegaly OMIM:608013
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Lymphadenopathy, Abnormal sacroiliac joint morphology, Splenomegaly, Orchitis, Abno... ORPHA:32960
Familial Pancreatic Carcinoma
Lymphadenopathy, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Diabetes mellitus ORPHA:1333
Primary Myelofibrosis
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly ORPHA:824
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonat... ORPHA:96191
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Talipes equinovarus, Endometrial carcinoma, Diabetes mellitus, Anxiety, E... ORPHA:273
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Recurrent tonsillitis OMIM:618935
Pancreatoblastoma
Pancreatic calcification, Abnormality of the lymph nodes ORPHA:677
Fucosidosis
Hepatomegaly, Cardiomegaly, Hypothyroidism ORPHA:349
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Short iliac bones, Lymphadenopathy, Metaphyseal widening, Metaphyseal irre... OMIM:607944
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Nail dystrophy, Card... OMIM:601214
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Clubbing of fingers, Mediastinal lymphadenopathy, Pericardial effusion ORPHA:199241
Aregenerative Anemia
Lymphadenopathy, Emotional lability, Bone marrow hypocellularity, Depression ORPHA:101096
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen, Hepatomegaly ORPHA:79456
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior OMIM:300322
Cutaneous Neuroendocrine Carcinoma
Merkel cell skin cancer, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:79140
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Depression, Cardiomyopathy OMIM:619259
Brucellosis
Myocarditis, Hepatomegaly, Pericarditis, Endocarditis, Lymphadenopathy, Abnormal aortic valve mor... ORPHA:1304
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Lymphadenopathy, Alopecia, Abnormality of the lymph nodes, Splenomegal... ORPHA:50918
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly, Hypoplastic pelvis OMIM:114620
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Thyroiditis, Myocarditis ORPHA:139402
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Generalized lymphadenop... ORPHA:160
Bohring-Opitz Syndrome
Happy demeanor, Hypertrichosis, Annular pancreas, Cardiomegaly, Cholelithiasis, Metacarpophalange... ORPHA:97297
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Spl... ORPHA:781
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Cervical lymphadenopathy, Cervi... ORPHA:653
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly, Alopecia ORPHA:169154
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... OMIM:614921
Aggressive Systemic Mastocytosis
Lymphadenopathy, Hepatosplenomegaly, Hypersplenism ORPHA:98850
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:169090
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morphology, Lymphadenopathy, A... ORPHA:449432
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Hepatomegaly, Irritability, Splenomegaly OMIM:267700
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Broad metatarsal, Mediastinal lymphadenopat... ORPHA:228123
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Acute Interstitial Pneumonia
Lymphadenopathy, Pericardial effusion ORPHA:79126
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Irritability OMIM:603553
Macrophage Activation Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:158061
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Sparse eyebrow, Arachnodactyly,... ORPHA:3063
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... ORPHA:100075
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, G... ORPHA:116
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Klatskin Tumor
Lymphadenopathy, Hepatomegaly ORPHA:99978
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Duodenal Neuroendocrine Tumor
Tricuspid stenosis, Lymphadenopathy, Insulinoma, Paraganglioma, Pulmonic stenosis, Intestinal car... ORPHA:100076
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Hepatomegaly, Tricuspid stenosis, Increased serum serotonin, Primary hypercorti... ORPHA:100079
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Alopecia, Pericardial effusion ORPHA:93552
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Hepatomegaly, Finger swelling, Splenomegaly OMIM:617591
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Hepatomegaly ORPHA:343
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Talipes equinovarus, Hypoplastic distal rad... OMIM:182250
African Trypanosomiasis
Abnormal prolactin level, Myocarditis, Hepatomegaly, Infertility, Pericarditis, Abnormality of re... ORPHA:3385
Nephroblastoma
Lymphadenopathy ORPHA:654
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Central hypothyroidism ORPHA:514
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Inappropriate antidiuret... ORPHA:79124
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Lymphadenopathy, Abnormality of epiphysis morphology, Bowing of the long bones, Abn... ORPHA:667
Gamma-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100026
Behçet Disease
Pericarditis, Endocarditis, Lymphadenopathy, Splenomegaly, Irritability, Orchitis, Abnormal myoca... ORPHA:117
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:540
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly, Irritability, Diabetes... ORPHA:51
Mevalonic Aciduria
Lymphadenopathy, Hepatosplenomegaly, Fluctuating splenomegaly, Fluctuating hepatomegaly OMIM:610377
Thymic Aplasia
Aplasia of the thymus, Thyroiditis, Lymphadenopathy, Hypothyroidism ORPHA:83471
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Abnormal metatarsal morphology, Lymphadenopathy, Hepatosplenomegal... ORPHA:85408
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Nail dystrophy, Abnormality of the endocrine system, Alopecia, Splenomegaly, Hyp... ORPHA:37042
Tangier Disease
Coronary artery stenosis, Orange discolored tonsils, Nail dystrophy, Left ventricular hypertrophy... ORPHA:31150
Familial Mediterranean Fever
Lymphadenopathy, Orchitis, Pericarditis, Splenomegaly ORPHA:342
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Small intestine carcinoid, Increased serum serotonin, Lymphadenopathy, Pulmon... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Small intestine carcinoid, Increased serum serotonin, Lymphadenopathy, Pulmon... ORPHA:100077
Chediak-Higashi Syndrome
Hepatomegaly, Silver-gray hair, Lymphadenopathy, Splenomegaly, Hypopigmentation of hair OMIM:214500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Irritability, Cardiomegaly OMIM:618278
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly,... OMIM:615688
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly, Irritability ORPHA:39812
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Thyroid carcinoma, Lymphadenopathy, Bone marrow hypocellularity, Thyroid adenoma, S... ORPHA:3261
Farber Disease
Lymphadenopathy, Hepatosplenomegaly, Short finger, Short toe ORPHA:333
Williams Syndrome
Hallux valgus, Bicuspid aortic valve, Overriding aorta, Abnormality of pelvic girdle bone morphol... ORPHA:904
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Crimean-Congo Hemorrhagic Fever
Mood swings, Myocarditis, Adrenal insufficiency, Hepatomegaly, Pericardial effusion, Inappropriat... ORPHA:99827
Malakoplakia
Prostate neoplasm, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia ORPHA:556
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Ventricular septal defect, Lymphadenopathy, Splenomegaly, Accessory spleen, Primary... OMIM:619418
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the thyroid gland ORPHA:52417
Hennekam Syndrome
Pulmonary lymphangiectasia, Pericardial effusion, Lymphadenopathy, Lymphangioma, Finger syndactyl... ORPHA:2136
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Pericarditis, Prostatitis, Lymphadenopathy, Lymphadenitis,... ORPHA:449395
Lymphangioleiomyomatosis
Chylopericardium, Abnormal morphology of female internal genitalia, Lymphadenopathy, Abnormality ... ORPHA:538
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusi... OMIM:181000
Acute Promyelocytic Leukemia
Lymphadenopathy, Metrorrhagia ORPHA:520
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:260920
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Thyroiditis, Sialadenitis, O... ORPHA:449563
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form