Gene Summary

Name:
sperm associated antigen 17
Synonyms:
PF6,  4931427F14Rik

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
limb grasping Spag17tm1b(KOMP)Wtsi HOM   Early adult 2.20×10-05
male infertility Spag17tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased body length Spag17tm1b(KOMP)Wtsi HOM   Late adult 8.20×10-05

Download data as:  TSV  XLS

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
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
Eye N/A heterozygote 0.0% (0 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 50% (1 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 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 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 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 50% (1 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 Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 50% (1 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 0.69% (4 of 577)
aorta 0.17% (1 of 582)
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
epididymis 13.89% (20 of 144)
esophagus 1.73% (7 of 404)
eye 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
submandibular gland 1.43% (2 of 140)
testis 0.86% (5 of 581)
thalamus 0.0%
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
urinary bladder 0.0%
uterus 0.35% (2 of 579)
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 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Adult LacZ

LacZ Images Section

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Forepaw

9 Images

Electrocardiogram (ECG)

Waveform Image

17 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Sleep Wake

Wake state (bmp file)

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Spag17 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 associated to Spag17 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380

The table below shows human diseases predicted to be associated to Spag17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
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
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Atelectasis, Pneu... ORPHA:70587
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
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
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Edema, Neonatal respiratory distre... OMIM:267450
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Ch... OMIM:612649
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Hepatojugular ... ORPHA:2302
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... ORPHA:70589
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia, Respiratory insufficiency due to defective ciliary... OMIM:615505
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... ORPHA:399805
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... ORPHA:922
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... ORPHA:60032
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... OMIM:615294
Ciliary Dyskinesia, Primary, 6
Sinusitis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia... OMIM:610852
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Nasal polyposis, Chronic rhinitis, Abnormal respiratory motile cil... OMIM:242680
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Absent inner dynein arms, Abnormal axonemal organization of r... OMIM:613807
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia OMIM:615703
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Absent outer dy... OMIM:614874
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Absent central microtubular pair morphology of respiratory motile cilia, Chronic ... OMIM:617091
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:615500
Acute Interstitial Pneumonia
Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Respiratory failure, Inter... ORPHA:79126
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Death in infancy, Ventriculomegaly, Increased CSF prote... OMIM:611722
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil... OMIM:612650
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections, Ciliary dyskin... OMIM:215520
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Abnormal axonemal organization of respiratory motile cilia, Wheezing, Cough, ... OMIM:613808
Young Syndrome
Azoospermia OMIM:279000
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Pulmonary insufficiency, Chronic rhinitis, Ciliary dyskinesia, Chronic ... OMIM:614017
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Agenesis of co... OMIM:619466
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Hypotension, Vasculitis, Shock,... ORPHA:70578
Ciliary Dyskinesia, Primary, 9
Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinusitis, Ciliary dyskinesia, Pneumonia, B... OMIM:612444
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Atelectasis, Recurrent bro... OMIM:616726
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Hypohidrotic ectodermal dysplasia, Urticaria, Cili... OMIM:225050
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Bronchie... OMIM:613193
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chron... OMIM:614679
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Chronic rhiniti... OMIM:615451
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Ataxia, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Diffi... OMIM:610978
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Atelect... ORPHA:70588
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic bronchitis... OMIM:615444
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system phy... OMIM:242670
3-Methylglutaconic Aciduria, Type Viii
Apnea, Increased CSF lactate, Ventriculomegaly, Death in infancy, Respiratory failure, Bradycardia OMIM:617248
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:615504
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... OMIM:618801
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Chronic s... OMIM:612518
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Decreased... OMIM:608644
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic bronchitis... OMIM:614935
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Chronic rhiniti... OMIM:608647
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilatio... ORPHA:90117
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Ciliary dyskinesia, Bronchiectasis, Absent inne... OMIM:606763
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... ORPHA:2902
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Pulmonary venous hypertension, Abnormal left ventricular function, P... ORPHA:75249
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Azoospermia, Cough, Chronic rhinitis, Chronic sin... OMIM:618300
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Loss of ambulation, Bronchiolitis, Atelectasis, Right bundle branch block, Dysphagia, Exertional ... ORPHA:254361
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Communicating hydrocephalus, Chronic rhinitis, Atelectasis, Recurrent bronchitis... OMIM:244400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory... ORPHA:266
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Increased CSF lactate, Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure,... OMIM:616277
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Decreased CSF serine concentration, Death in infancy OMIM:610992
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejecti... ORPHA:542323
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Left bundle branch block, Congestive heart failure, Pulmonary edema, Sudden... OMIM:115197
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure, Recurrent respiratory infections OMIM:253300
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... ORPHA:50251
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hydrocephalus, Supraventricular tachycardia, Pulmonary edema, Cya... ORPHA:137675
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... ORPHA:330001
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia OMIM:229070
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Acute infectio... ORPHA:36238
Nemaline Myopathy 8
Dysphagia, Polyhydramnios, Respiratory failure, Death in infancy OMIM:615348
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... OMIM:614837
Systemic Capillary Leak Syndrome
Pulmonary edema, Arrhythmia, Myocarditis, Cough, Hypotension, Pedal edema, Pleural effusion, Rhin... ORPHA:188
Paroxysmal Extreme Pain Disorder
Flushing, Tachycardia, Rhinorrhea, Bradycardia OMIM:167400
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Glutamine Deficiency, Congenital
Apnea, Erythema, Neonatal death, Subependymal cysts, Neonatal respiratory distress, Decreased CSF... OMIM:610015
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Recurrent respiratory infections, Cyanosis, Cough, Aspir... ORPHA:2004
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Systolic heart murmur, Pulmonary hypoplasia, Tachycardia, C... ORPHA:980
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Gaucher Disease Type 2
Respiratory distress, Cough, Dysphagia, Abnormal pattern of respiration, Cardiac arrest, Recurren... ORPHA:77260
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Absent central microtubular pair morphology of respiratory motile cilia, Rec... OMIM:620032
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Primary Ciliary Dyskinesia
Hydrocephalus, Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis,... ORPHA:244
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Atelectasis, Bronchitis, Upper airway obstruction, Pneumonia... ORPHA:3348
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Tricuspid regurgitation, P... ORPHA:2414
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... ORPHA:132
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Re... ORPHA:264675
Pneumocystosis
Hypoxemia, Multiple pulmonary cysts, Nonproductive cough, Respiratory insufficiency, Interstitial... ORPHA:723
Cirrhotic Cardiomyopathy
Pulmonary edema, Jaundice, Third heart sound, Left ventricular diastolic dysfunction, Elevated pu... ORPHA:57777
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
47,Xyy Syndrome
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... ORPHA:8
Pontocerebellar Hypoplasia, Type 4
Dysphagia, Polyhydramnios, Respiratory failure, Death in infancy OMIM:225753
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Ground... ORPHA:1302
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... ORPHA:2357
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Ataxia, Respiratory failure OMIM:618637
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Adrenal Hypoplasia, Congenital
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism OMIM:300200
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Recurrent aspiration pneumonia, Difficulty walking, Waddling gait, Dysphagia, ... ORPHA:2590
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Respiratory insufficiency, V... OMIM:617397
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Diffuse reticular or finely nod... ORPHA:79127
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Erythema, An... ORPHA:100057
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Reduced forced... ORPHA:91359
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... OMIM:619751
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Pineocytoma
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Hypertension, Pulmonary arterial hypertension, Respiratory failure, Le... OMIM:605711
Ethylene Glycol Poisoning
Ataxia, Episodic respiratory distress, Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachy... ORPHA:31826
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Ventriculomegaly, Respiratory insufficiency due to muscle weakness OMIM:618291
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Difficulty walking, Recurrent pneumonia, Dysphag... ORPHA:254875
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Respiratory f... ORPHA:563
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Cutis marmorata, Hydrocephalus, Ventriculomegaly OMIM:615937
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Hypoglycorrhachia, Cyanosis, Central apnea, Choreoathetosis, Lethargy ORPHA:71277
Cocaine Intoxication
Respiratory distress, Supraventricular arrhythmia, Subarachnoid hemorrhage, Myocardial infarction... ORPHA:90068
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Premature Ovarian Failure 10
Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... OMIM:612885
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Dysphagia, Respi... OMIM:614399
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Cyanosis, Inspiratory stridor, Dysphagia, Spina bifida, ... OMIM:207950
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Intracranial hemorrhage, ... ORPHA:449285
Interstitial Lung Disease 1
Interlobular septal thickening, Usual interstitial pneumonia, Crackles, Decreased DLCO, Cough, Gr... OMIM:619611
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Respiratory insufficiency, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiom... OMIM:614299
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... ORPHA:99931
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure, Congestive heart failure OMIM:616794
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ... OMIM:610910
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Increased CSF lactate, Death in infancy, Hypertrophic cardiomyopathy OMIM:604377
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cyanosis, Hypotension, Shortened PR interval, Bradycardia, Ascites, Cardiomyopat... OMIM:261740
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Increased CSF lactate, Inability to walk, Central sleep apnea, Dysphagia, Hypertrophic ca... ORPHA:70472
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... ORPHA:99103
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Ventriculomegaly, Neonatal respiratory distress, Respiratory failure,... ORPHA:168486
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... ORPHA:91348
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Loss of ambulation, Respiratory failure OMIM:613435
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor, Bradycardia OMIM:608800
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased CSF lactate ORPHA:238329
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ambulation, Respiratory insufficiency, Respiratory failure, Ventriculomegaly ORPHA:370968
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Tachypnea, Cough, ... ORPHA:454836
Coenzyme Q10 Deficiency, Primary, 5
Respiratory insufficiency, Bradycardia OMIM:614654
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Neonatal death, Respiratory failure OMIM:610127
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Recurrent respiratory infections ORPHA:1882
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Neonatal death, Difficulty walking, Respiratory failure, Respiratory insuffici... OMIM:611890
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia, Dyspnea ORPHA:464453
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy, Bradycardia OMIM:614498
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Hypogonadotropic hypogonadism, Abnormality o... OMIM:228300
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Ataxia, Dysmetria, Central hypoventilation, Dysphagia, Respiratory failure OMIM:618233
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Hydrocephalus, Ataxia, Aqueductal stenosis, Cyanosis, Inspiratory strido... ORPHA:1136
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Lymphangioleiomyomatosis
Hydrocephalus, Pulmonary infiltrates, Chylopericardium, Chylothorax, Cough, Gastrointestinal hemo... ORPHA:538
Ciliary Dyskinesia, Primary, 38
Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rhinitis, Absent inner a... OMIM:618063
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism ORPHA:91351
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Death in infancy, Bradycardia OMIM:616299
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Bradykinesia, Falls ORPHA:240085
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy, Decreased mitochondrial number, Dysphagia, Dyspnea, Respirato... ORPHA:352447
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Bradycardia, Congestive heart failure OMIM:619048
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure OMIM:276950
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Polyhydramnios, Atelectasis, Death in infancy OMIM:300219
Scorpion Envenomation
Bundle branch block, Ataxia, Pulmonary edema, Premature ventricular contraction, ST segment depre... ORPHA:466677
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Recurrent respiratory infections OMIM:615993
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Arthrogryposis Multiplex Congenita 6
Akinesia, Death in childhood, Neonatal death, Polyhydramnios, Death in infancy, Respiratory failure OMIM:619334
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... ORPHA:1329
Intermediate Nemaline Myopathy
Dysphagia, Polyhydramnios, Difficulty walking, Respiratory failure ORPHA:171433
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Pneumonia, Respiratory failure, Palpitations, Tachycardia, Shock, S... ORPHA:340
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Polyhydramnios, Dilated cardiomyopathy, Respiratory insufficiency due to mu... OMIM:300580
Proximal Spinal Muscular Atrophy
Inability to walk, Recurrent infections due to aspiration, Hypoventilation, Recurrent aspiration ... ORPHA:70
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Ab... OMIM:612387
Hepatic Veno-Occlusive Disease
Ascites, Respiratory failure, Jaundice ORPHA:890
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Hypoxemia, Respiratory failure, Oxygen desaturation on exertion, Inte... ORPHA:60025
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice, Death in infancy OMIM:129850
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Pulmonary hypoplasia, Neonatal respiratory distress, Dysphagia, Respiratory failure OMIM:616867
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism OMIM:614897
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Respiratory insufficiency, Arrhythmia, Recurrent lower respiratory tract infec... ORPHA:258
Muscular Dystrophy, Duchenne Type
Loss of ambulation, Congestive heart failure, Tip-toe gait, Arrhythmia, Dilated cardiomyopathy, A... OMIM:310200
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... ORPHA:64739
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Hypertrophic cardiomyopathy, Ventriculomegaly, Lethargy OMIM:618228
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pulmonary infiltrates, ... OMIM:178550
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Increased CSF lactate, Ventriculomegaly, Pulmonary arterial hypertension, B... OMIM:619272
Lujo Hemorrhagic Fever
Respiratory distress, Facial edema, Nonproductive cough, Generalized edema, Crackles, Myocarditis... ORPHA:319213
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... ORPHA:133
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Dysphagia, Hypertension, Bradycardia ORPHA:3299
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Lethargy, Cardiorespirat... OMIM:212138
Scedosporiosis
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pleuritis, Bronchitis, Pneumonia, Ab... ORPHA:449280
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
48,Xyyy Syndrome
Azoospermia, Male hypogonadism ORPHA:99329
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Nephronophthisis-Like Nephropathy 2
Polydipsia, Pulmonary infiltrates, Cough, Bronchiectasis, Recurrent respiratory infections OMIM:619468
Congenital Myasthenic Syndrome
Ataxia, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Tip-toe gait, Rec... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Ataxia, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Tip-toe gait, Rec... ORPHA:98914
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... ORPHA:90060
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Congenital Pulmonary Airway Malformation
Polyhydramnios, Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Niemann-Pick Disease, Type C2
Ataxia, Prolonged neonatal jaundice, Jaundice, Pulmonary fibrosis, Respiratory insufficiency, Dea... OMIM:607625
Alexander Disease
Hydrocephalus, Ataxia, Dysmetria, Death in childhood, Death in adolescence, Increased CSF protein... OMIM:203450
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, CSF pleocyto... ORPHA:79139
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Pulmonary hypoplasia, Abnormal breath sound, Re... ORPHA:2257
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Tularemia
Respiratory distress, Pulmonary infiltrates, Tachycardia, Cough, Abnormal pulmonary thoracic imag... ORPHA:3392
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Inability to walk, Left ventricular outflow tract obstruction,... ORPHA:365
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Respiratory insufficiency, Death in childhood, Ventriculomegaly, CSF lymphocytic p... OMIM:610333
Mogs-Cdg
Respiratory distress, Apnea, Pulmonary edema, Polyhydramnios, Edema, Generalized edema, Hypoventi... ORPHA:79330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Increased CSF lactate, Inability to walk, Neonatal death, Death in infancy, Hypertrophic cardiomy... OMIM:617184
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Thoracic Dysplasia-Hydrocephalus Syndrome
Ataxia, Respiratory failure, Communicating hydrocephalus ORPHA:1861
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Facial edema, Lethargy, Bradycardia ORPHA:95717
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Azoospermia ORPHA:1445
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Spinocerebellar Ataxia Type 1
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Gait ... ORPHA:98755
X-Linked Centronuclear Myopathy
Respiratory distress, Inability to walk, Respiratory failure requiring assisted ventilation, Poly... ORPHA:596
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... OMIM:265450
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Cyanosis, Respiratory failure, Sever... ORPHA:444013
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Ataxia, Increased CSF lactate, Death in childhood, Myelopathy, Bradypnea, Cerebral edema, Ventric... OMIM:617186
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Generalized Glucocorticoid Resistance Syndrome
Infertility, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, Female pseudo... ORPHA:786
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)