Gene Summary

Name:
syntaxin 2
Synonyms:
Syn-2,  G1-536-1,  Epim,  repro34

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
male infertility Stx2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating cholesterol level Stx2tm1b(EUCOMM)Wtsi HOM Early adult 5.79×10-05
decreased mean corpuscular volume Stx2tm1b(EUCOMM)Wtsi HOM Early adult 5.17×10-28
increased erythrocyte cell number Stx2tm1b(EUCOMM)Wtsi HOM Early adult 7.15×10-07
decreased mean corpuscular hemoglobin Stx2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin concentration Stx2tm1b(EUCOMM)Wtsi HOM Early adult 5.12×10-06
increased circulating HDL cholesterol level Stx2tm1b(EUCOMM)Wtsi HOM   Early adult 8.11×10-05
cataract Stx2tm1b(EUCOMM)Wtsi HOM Early adult 3.73×10-06

Download data as:  TSV  XLS

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

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 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas 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 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

Adult LacZ

LacZ Images Section

36 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Stx2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Stx2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Lactose Intolerance, Adult Type
Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Protracted diarrhea OMIM:251850
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Diarrhea 12, With Microvillus Atrophy
Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PAS-positive secretory granules, Micro... OMIM:619445
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy OMIM:615863
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Nausea, Chronic diarrhea, Decreased small ... ORPHA:103907
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Young Syndrome
Azoospermia OMIM:279000
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Villous atrophy, Hypogonadotropic hypogo... OMIM:600955
Jejunal Atresia
Jejunal atresia OMIM:243600
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Arthritis, Hepat... OMIM:602390
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Vomiting, Diarrhea, Hepatic failure, Villous atroph... OMIM:602579
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... OMIM:614602
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Central hypothyroidism, Cholestasis, Villous atrophy, Abnormal smal... ORPHA:95427
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea OMIM:613291
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... OMIM:210250
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis OMIM:614328
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Diarrhea OMIM:246700
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea OMIM:301033
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... ORPHA:92050
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card... OMIM:235200
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Villous atrophy, Splenomegaly, Skin rash, Enterocolitis, Episodic vomiting OMIM:616050
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Galactokinase Deficiency
Cataract, Nuclear cataract, Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactit... ORPHA:79237
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Biliary tract abnormalit... OMIM:209920
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, High palate, Primary gonadal insufficiency, Acne ORPHA:99329
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Primary amenorrhea, Hypercholesterolemia, Hypertr... OMIM:612526
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Villous atrophy, Ileus, Hypothyroidis... OMIM:304790
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Type I d... OMIM:614700
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, O... OMIM:614162
Immunodeficiency 85 And Autoimmunity
Vomiting, Eczematoid dermatitis, Villous atrophy, Oligoarthritis, Erythroderma, Chronic diarrhea OMIM:619510
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Diarrhea, Vomiting, Villous atrophy, High palate OMIM:601110
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca... OMIM:613280
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
48,Xxyy Syndrome
Gastroesophageal reflux, Decreased testicular size, Azoospermia, Type II diabetes mellitus, Crypt... ORPHA:10
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Recurrent infection of the gastrointestinal tract, Vill... OMIM:256500
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia OMIM:306000
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Refractory Celiac Disease
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Inflammatory... ORPHA:398063
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Increased intestinal transit ... OMIM:619377
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Vi... OMIM:212065
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia ORPHA:75234
Cataract 42
Cataract, Developmental cataract OMIM:115900
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... OMIM:616828
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Villous atrophy, Splenomegaly, Ascites OMIM:608776
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ... ORPHA:232
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Eczematoid dermatitis, Hepatosplenomegaly, Villous atrophy, Psoriasifor... OMIM:606367
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Thrombocytop... ORPHA:848
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Abcd Syndrome
Polycythemia OMIM:600501
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Abnormal small intestine morphology, Splenomegaly ORPHA:100025
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... OMIM:235700
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Anemia, Elevated transferrin saturation, ... OMIM:606069
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... OMIM:278000
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
48,Xxxy Syndrome
Small scrotum, Gastroesophageal reflux, Hypogonadism, Decreased testicular size, Azoospermia, Typ... ORPHA:96263
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Syndromic Diarrhea
Hepatic fibrosis, Intractable diarrhea, Bloody diarrhea, Abnormality of the liver, Villous atroph... ORPHA:84064
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Diarrhea, Inflammatory abnormality of the skin, Hepatitis, Eczematoid d... ORPHA:391487
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level OMIM:612126
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:182900
49,Xxxxy Syndrome
Small scrotum, Gastroesophageal reflux, Hypogonadism, Decreased testicular size, Azoospermia, Typ... ORPHA:96264
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Duodenal Atresia
Duodenal atresia OMIM:223400
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Galactosemia I
Increased level of galactitol in red blood cells, Cataract, Reduced erythrocyte galactose-1-phosp... OMIM:230400
Trichohepatoenteric Syndrome 1
Bifid uvula, Intractable diarrhea, Hepatic fibrosis, Hepatic failure, Cholestasis, Villous atroph... OMIM:222470
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Livedoid Vasculopathy
Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Leukocytosis, Hyperhomocyst... ORPHA:542643
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatic fibrosis, De... ORPHA:79319
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Elevated circulating hepatic transaminase concentration, Type I diabet... OMIM:557000
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... ORPHA:85450
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Asc... ORPHA:79239
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:224100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Hepatitis, Pustular ras... OMIM:619381
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Skin rash, Ileal ulcer, Colitis, Anterior uveitis OMIM:616744
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor... ORPHA:1772
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Decreased liver function, Cholestasis, Ascites, D... OMIM:608104
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... OMIM:266200
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia OMIM:277175
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Diarrhea, Vomiting, Villous atrophy, H... ORPHA:79328
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Cholestasis, Ascites, Elevated circulati... OMIM:619573
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen... OMIM:618892
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
8P11.2 Deletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Cryptorchidism, Spleno... ORPHA:251066
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Ciliary Dyskinesia, Primary, 9
Pneumonia, Male infertility, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chron... OMIM:612444
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Protein-losing enteropathy, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Poems Syndrome
Polycythemia, Hypogonadism, Splenomegaly, Thrombocytosis, Erectile dysfunction ORPHA:2905
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Splenomegaly, ... ORPHA:465508
Ziegler-Huang Syndrome
Hypogonadism, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Down Syndrome
Keratoconus, Cataract, Polycythemia, Decreased fertility, Acute megakaryocytic leukemia, Thromboc... ORPHA:870
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Biliary cirrhosis, Bronchiectasis, Meconium ileus, Exocrine pancre... OMIM:219700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Splenomegaly, Elevated circulating creatine kinase concentration, Dysmeno... ORPHA:79240
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Splenomegaly, Elevated circulating creatine kinase concentration, Dysmeno... ORPHA:264580
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Bloom Syndrome
Pneumonia, Gastroesophageal reflux, Neoplasm of the colon, Azoospermia, Stomach cancer, Otitis me... ORPHA:125
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Increased circulating ... OMIM:194380
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis ORPHA:729
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,... OMIM:601847
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:607765
Fumarase Deficiency
Conjunctival icterus, Hyperbilirubinemia, Polycythemia OMIM:606812
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit... ORPHA:309854
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... ORPHA:71275
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract, Microcytic anemia OMIM:618805
Ring Chromosome 22 Syndrome
Azoospermia, Protruding tongue ORPHA:1446
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169