Gene Summary

Name:
heat shock protein 5
Synonyms:
D2Wsu141e,  D2Wsu17e,  78kDa,  Bip,  Sez7,  baffled,  XAP-1 antigen,  mBiP,  Hsce70,  Grp78

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
increased circulating cholesterol level Hspa5tm1.1(KOMP)Vlcg HET Early adult 7.12×10-06
embryonic lethality prior to organogenesis Hspa5tm1.1(KOMP)Vlcg HOM   E9.5 0.00
increased heart weight Hspa5tm1.1(KOMP)Vlcg HET   Early adult 3.81×10-07
preweaning lethality, complete penetrance Hspa5tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased circulating chloride level Hspa5tm1.1(KOMP)Vlcg HET Early adult 6.22×10-06
embryonic lethality prior to tooth bud stage Hspa5tm1.1(KOMP)Vlcg HOM   E12.5 0.00
increased circulating HDL cholesterol level Hspa5tm1.1(KOMP)Vlcg HET Early adult 7.65×10-07

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
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 50% (1 of 2)
Hypothalamus  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote Ambiguous
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta 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)
Esophagus 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
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct 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)
Small intestine N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus 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)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.2% (6 of 500)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 492)
embryo 0.4% (2 of 495)
eye 0.2% (1 of 491)
footplate 0.2% (1 of 496)
forebrain 0.2% (1 of 497)
forelimb 0.2% (1 of 494)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 491)
head 1.02% (5 of 492)
heart 0.2% (1 of 501)
hindbrain 1% (5 of 498)
hindlimb 0.2% (1 of 488)
liver 0.21% (1 of 479)
lung 0.21% (1 of 482)
mandibular process 0.2% (1 of 494)
maxillary process 0.2% (1 of 498)
midbrain 0.2% (1 of 493)
nose 1.33% (1 of 75)
oral cavity 0.2% (1 of 491)
skin 0.2% (1 of 489)
spinal cord 1.47% (1 of 68)
tail 0.2% (1 of 491)
tail somite group 0.2% (1 of 491)

Associated Images

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

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Eye Morphology

Images Slit Lamp

1 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

13 Images

Sleep Wake

Wake state (bmp file)

8 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography

Cone waveform (pdf format)

2 Images

Electroretinography

Rod waveform (pdf format)

2 Images

Human diseases caused by Hspa5 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 Hspa5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... ORPHA:70589
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Hypopl... OMIM:604213
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Hepatojugular ... ORPHA:2302
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia OMIM:232700
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Transie... ORPHA:70588
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
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... OMIM:619466
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... ORPHA:922
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory dis... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Atelectasis, Resp... ORPHA:70587
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... ORPHA:79126
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... OMIM:616726
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... ORPHA:2902
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... OMIM:610978
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... OMIM:610031
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Reduced forced... ORPHA:91359
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Agenesis of co... ORPHA:171703
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Ground... ORPHA:1302
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Apnea, Central sleep apnea, Microcephaly, Cerebellar hypoplasia, Cerebellar ... ORPHA:168486
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia, Upp... ORPHA:3348
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Ground-glass opacification, Intr... OMIM:619611
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Pallor, Crackles, Reticular pattern on ... ORPHA:99931
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the pons, Cerebellar atrophy, Respiratory... OMIM:618276
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress ORPHA:141152
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Respiratory insufficiency, Central apnea, Death in infancy, Hyperintensi... OMIM:611722
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Lissencephaly 3
Gray matter heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,... OMIM:611603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Pachygyria, Death in childhood, Respiratory insufficiency, Hypoplasia of the pons,... OMIM:613153
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... OMIM:265450
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Abnormality of neuronal migration, Polymicrogyria, Hypoplasia ... ORPHA:101029
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Ta... ORPHA:264675
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Respiratory insufficiency, Hypoplasia of the corpus callosum, Cerebell... OMIM:616081
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyc... OMIM:207750
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ethanolaminosis
Cardiomegaly OMIM:227150
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Tricuspid regurgitation, Pulmonic stenosis, ... ORPHA:2414
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Death in adolescence, Neonatal death, Pulm... OMIM:619751
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... ORPHA:90064
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus ... OMIM:300067
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Pleural Mesothelioma
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... ORPHA:50251
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... OMIM:612387
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... OMIM:178550
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callos... OMIM:618291
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:613090
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... ORPHA:217563
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... OMIM:614019
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated... OMIM:616828
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Right bundle branch block, Exertional dyspnea, Pulmonary fibrosis ORPHA:254361
Joubert Syndrome 23
Apnea, Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea OMIM:616490
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... ORPHA:2357
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Dyspnea ORPHA:228312
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Microcephaly, Hypoplasia of the pons, Cerebellar... OMIM:225753
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Paucity of anterior horn motor neurons, Microcephaly, Neonatal death, Abnormal ... OMIM:611890
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... ORPHA:2004
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pleural empyema, Acu... ORPHA:36238
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death, Respiratory failure, Intrauterine growth retardation, Congestive ... OMIM:301021
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... OMIM:263200
Acute Myelomonocytic Leukemia
Pallor, Dyspnea, Abnormal bleeding ORPHA:517
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... ORPHA:133
Evans Syndrome
Petechiae, Jaundice, Bruising susceptibility, Pallor, Syncope, Dyspnea, Epistaxis ORPHA:1959
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:602522
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... OMIM:619302
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Recurrent respiratory infections OMIM:615993
Dermatitis, Atopic
Asthma, Pallor, Dry skin, Facial erythema, Allergic rhinitis OMIM:603165
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Cerebral cortical atrophy, Microcephaly, Respiratory insufficiency, Cer... ORPHA:370968
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Abnormal bleeding, Palpitation... ORPHA:2038
Gaucher Disease Type 2
Respiratory distress, Cough, Abnormal pattern of respiration, Cardiac arrest, Recurrent respirato... ORPHA:77260
Retinitis Pigmentosa 42
Pallor OMIM:612943
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cavum septum pellucidum, Microcephaly, Hypop... ORPHA:300573
Primary Pulmonary Hypoplasia
Apnea, Asthma, Intrauterine growth retardation, Hypoxemia, Cyanosis, Tachypnea, Pulmonary hypopla... ORPHA:2257
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Microcephaly, Respiratory insufficiency, Neonatal death, Cerebellar atro... OMIM:610127
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Pneumocystosis
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... ORPHA:723
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... ORPHA:244
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Pneumonia... ORPHA:238459
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Retinitis Pigmentosa 81
Pallor OMIM:617871
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal thickening, Ox... ORPHA:60025
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskinesia, Pneum... OMIM:244400
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Retinitis Pigmentosa 60
Pallor OMIM:613983
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Upper airway obstruction, Abnormal capillary physiology ORPHA:100057
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Perching Syndrome
Respiratory distress OMIM:617055
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... OMIM:304100
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress, Pulmonary arterial hypertens... OMIM:619003
X-Linked Sideroblastic Anemia
Pallor, Dyspnea ORPHA:75563
Hyperlipoproteinemia, Type I
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Hypotension, Vasculitis, Shock,... ORPHA:70578
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Arrhinencephaly,... ORPHA:1528
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Cough, Wheezing, Bronchie... OMIM:613490
Microcephaly 17, Primary, Autosomal Recessive
Microcephaly, Cerebellar hypoplasia, Simplified gyral pattern, Microlissencephaly, Agenesis of co... OMIM:617090
Myoclonus, Intractable, Neonatal
Pallor, Apnea OMIM:617235
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Tachypn... ORPHA:454836
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... ORPHA:99103
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Cough, Atelectasis, Skin ulcer, Skin vesicle, Recurrent respirat... ORPHA:2314
3-Methylglutaconic Aciduria, Type Viii
Apnea, Cerebral atrophy, Hypoplasia of the corpus callosum, Death in infancy, Secondary microceph... OMIM:617248
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Respiratory failure, Resp... ORPHA:2590
Pontocerebellar Hypoplasia Type 2
Apnea, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Abno... ORPHA:2524
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Optic Atrophy 9
Pallor OMIM:616289
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Cerebellar hypoplasia, Death in infancy, Simplified gyral pattern, Agenes... OMIM:619301
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy OMIM:604377
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Microcephaly, Respiratory insufficiency, Polymicrogyria, Hypoplasia of the corp... OMIM:615330
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Immotile cilia, Bronchiectasis, Absent inner... OMIM:606763
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Aspergillosis
Asthma, Sinusitis, Pulmonary infiltrates, Chronic pulmonary obstruction, Hypersensitivity pneumon... ORPHA:1163
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hypercholesterolemia OMIM:615812
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Respiratory insufficiency, Cer... OMIM:616900
Goodpasture Syndrome
Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Pallor, Pulmonary hemor... OMIM:233450
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Anomalous pulmonary venous return, Left-to-righ... ORPHA:99104
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Cerebellar atrophy OMIM:252650
Niemann-Pick Disease, Type B
Diffuse reticular or finely nodular infiltrations, Abnormal pulmonary interstitial morphology, De... OMIM:607616
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Craniotelencephalic Dysplasia
Absent septum pellucidum, Cerebellar hypoplasia, Agenesis of corpus callosum, Arrhinencephaly, Li... OMIM:218670
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... ORPHA:45452
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Thin corpus callosum, Apnea, Respiratory failure, Death in infancy OMIM:616277
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... ORPHA:79128
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microcephaly, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Agen... OMIM:614833
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia, Dyspnea ORPHA:464453
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum, Pneumonia ORPHA:85179
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Death in childhood, Agenesis of corpus callosum OMIM:613163
Peripheral Cone Dystrophy
Pallor OMIM:609021
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly... ORPHA:255182
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Succinic Acidemia
Respiratory distress OMIM:600335
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Cerebellar hypoplasia, Neonatal death, Agyria, Lissencephaly, Death in infancy, Age... OMIM:616342
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Cerebral atrophy, Neonatal respiratory distress OMIM:619057
Rheumatic Fever
Sinusitis, Pallor, Respiratory insufficiency, Erythema, Arrhythmia, Abnormal pleura morphology, M... ORPHA:3099
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hyperaldosteronism,... ORPHA:89938
Spontaneous Periodic Hypothermia
Pallor, Abnormal pattern of respiration, Arrhythmia ORPHA:29822
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebral calcification, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,... OMIM:616538
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Pulmonary infiltrates, Recurrent respiratory infections, Cough OMIM:619468
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Letterer-Siwe Disease
Pallor, Dyspnea, Pulmonary infiltrates, Jaundice OMIM:246400
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Buerger Disease
Skin ulcer, Acrocyanosis, Vasculitis ORPHA:36258
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Cerebral atrophy OMIM:618637
Tularemia
Respiratory distress, Pulmonary infiltrates, Tachycardia, Cough, Abnormal pulmonary thoracic imag... ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Death in childhood, Respiratory insufficiency, Neonatal death, Focal T2 hyperin... OMIM:245400
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Lymphangioleiomyomatosis
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Gastrointestinal hemorrhage, Restrictive ... ORPHA:538
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Pallor, Intracranial hemorrhage, Respiratory failure, Recurrent respirat... ORPHA:3226
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure OMIM:276950
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Intrauterine growth retardation, Pulmonary hypoplasia, Hypertension OMIM:616733
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Galactokinase Deficiency
Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyp... ORPHA:79237
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Waldenström Macroglobulinemia
Pulmonary infiltrates, Urticaria, Pallor, Cutis marmorata, Respiratory insufficiency, Retinal hem... ORPHA:33226
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor, Respiratory insufficiency due to muscle weakness OMIM:608423
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Systolic heart murmur, Cyanosis, Tachycardia, Orthopnea, At... ORPHA:980
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Respiratory insufficiency, Vasculitis, Cough, Purpura ORPHA:375
Hyperekplexia 4
Respiratory failure, Cerebral atrophy OMIM:618011
Arima Syndrome
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Polycystic kidney dysplasia... OMIM:243910
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Chiari malformation, Inspiratory strido... OMIM:207950
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Leukoencephalopathy, Death in childhood, Myelopathy, Cerebellar edema, Bradypnea, Cerebral white ... OMIM:617186
Optic Atrophy 1
Pallor OMIM:165500
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Retinitis Pigmentosa 70
Pallor OMIM:615922
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea, Tachycardia, Congestive heart failure ORPHA:90037
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Pulmonary infiltrates, Urticaria, Recurrent intrapulmonary hemorrhage, Respira... ORPHA:183
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Usual interstitial pneumoni... OMIM:614742
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus c... ORPHA:89844
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary insufficiency, Respiratory insufficiency, Neonatal death, Pulmonary hyp... OMIM:245650
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Stridor ORPHA:142
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Intrauterine growth retardation OMIM:619793
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Tachycardia, Exertional dyspnea, Jaundice, Congestive heart failure ORPHA:90033
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Lujo Hemorrhagic Fever
Respiratory distress, Excessive bleeding after a venipuncture, Nonproductive cough, Crackles, Myo... ORPHA:319213
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary infiltrates, Hypertensive crisis, Skin ulcer, Dyspnea, Pulm... ORPHA:220393
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Arrhythmia, Recurrent lower respiratory tract infections, Atelectasis,... ORPHA:258
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, C... ORPHA:439
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Cyanosis, Respiratory failure, Sever... ORPHA:444013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly,... OMIM:615249
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Autoimmune Hemolytic Anemia
Pallor, Dyspnea, Arrhythmia, Congestive heart failure ORPHA:98375
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Scedosporiosis
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pleuritis, Bronchitis, Respiratory f... ORPHA:449280
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Death in childhood, Tachypnea, Abnormal periventricular white matter morphology... OMIM:615838
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Apneic episodes in infancy OMIM:619111
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Diffuse reticular or finely nodular infi... ORPHA:333
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Retinitis Pigmentosa 27
Pallor OMIM:613750
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:614924
Tetrasomy 5P
Respiratory distress, Congestive heart failure, Cyanosis, Heart murmur, Pulmonary hypoplasia, Pul... ORPHA:3309
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Left ventricular outflow tract obstruction, Respiratory insuff... ORPHA:365
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulati... ORPHA:247598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Cerebellar hypoplasia, Cortical dysplasia, T... OMIM:615287
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Smith-Magenis Syndrome
Abnormal heart morphology, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria... OMIM:615181
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Dilated cardiomyopathy, Hypercholesterolemia ORPHA:401923
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Microcephaly, Cerebellar atrophy, Dyspnea, Respiratory failure, Respiratory insufficiency due to ... ORPHA:352447
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:164180
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short corp... ORPHA:255138
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Anomalous pulmonary venous return, Left ventricular outflow tract obstruction, Cya... ORPHA:860
American Trypanosomiasis
Pallor, Arrhythmia, Myocarditis, Cough, Dyspnea, Cardiomyopathy, Congestive heart failure ORPHA:3386
Sepsis In Premature Infants
Petechiae, Pallor, Abnormal bleeding, Cyanosis, Abnormal respiratory system physiology, Tachycard... ORPHA:90051
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral morphology, Re... ORPHA:70472
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Microcephaly OMIM:620001
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Apnea, Pallor ORPHA:439218
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Abnormal cortical gyration OMIM:616867
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Anomalous pulmonary venous return, Tricuspid regurgitation, Syst... ORPHA:555874
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Flushing, Positive regitine blocking test, Cerebra... ORPHA:94080
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypercholesterolemia, In... OMIM:619662
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormality of the anterior c... OMIM:617542
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Pachygyria, Agenesis of c... ORPHA:2512
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Laron Syndrome
Hypercholesterolemia ORPHA:633
Gaucher Disease, Type I
Pulmonary infiltrates, Aortic valve stenosis, Mitral regurgitation, Abnormal pulmonary interstiti... OMIM:230800
Retinitis Pigmentosa 73
Pallor OMIM:616544
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Secondary microcephaly, Dysplastic corpus callosum, Perivent... OMIM:619737
Malaria
Respiratory distress ORPHA:673
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Intrauterine growth retardation OMIM:615597
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus OMIM:273730
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal cerebellum morphology, Hydrocephalus, Gray matter heterotopia, Diffuse white matter abno... ORPHA:370959
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Amish Lethal Microcephaly
Microcephaly, Cerebellar vermis hypoplasia, Lissencephaly, Death in infancy, Spina bifida, Agenes... ORPHA:99742
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Subarachnoid h... OMIM:187300
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum,... OMIM:225790
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... OMIM:604320
Beta-Thalassemia
Skin ulcer, Respiratory insufficiency, Hypertrophic cardiomyopathy, Pallor ORPHA:848
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol co... ORPHA:247585
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Microcephaly, Respiratory insufficiency, Polymicrogyria, Death in inf... OMIM:608836
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular failure, Co... OMIM:178600
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Dilated fourth ventricle, Thic... ORPHA:357058
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea, Tachycardia ORPHA:90036
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased LDL cholesterol concentration, Steatorrhea, Splenomegaly, Hepatosplenomeg... OMIM:278000
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia ORPHA:263501
Granulomatosis With Polyangiitis