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Gene: Apln MGI:1353624

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Gene Summary

Name:
apelin
Synonyms:
6030430G11Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Bone  Wholemount images hemizygote Ambiguous
Bone  Wholemount images heterozygote Ambiguous
Bone  Wholemount images homozygote Ambiguous
Brain  Wholemount images hemizygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images homozygote 100% (1 of 1)
Cecum  Wholemount images hemizygote Ambiguous
Cecum  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images homozygote Ambiguous
Chest bone  Wholemount images hemizygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images homozygote Ambiguous
Duodenum  Wholemount images hemizygote Ambiguous
Duodenum  Wholemount images heterozygote Ambiguous
Duodenum  Wholemount images homozygote Ambiguous
Epididymis  Wholemount images hemizygote Ambiguous
Gall bladder  Wholemount images hemizygote Ambiguous
Gall bladder  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images homozygote Ambiguous
Harderian gland  Wholemount images hemizygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images homozygote Ambiguous
Ileum  Wholemount images hemizygote Ambiguous
Ileum  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images homozygote Ambiguous
Jejunum  Wholemount images hemizygote Ambiguous
Jejunum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images homozygote Ambiguous
Kidney  Wholemount images hemizygote Ambiguous
Kidney  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images homozygote Ambiguous
Large intestine  Wholemount images hemizygote Ambiguous
Large intestine  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images homozygote Ambiguous
Liver  Wholemount images hemizygote 0.0% (0 of 2)
Liver  Wholemount images heterozygote 0.0% (0 of 2)
Liver  Wholemount images homozygote Ambiguous
Lung  Wholemount images hemizygote Ambiguous
Lung  Wholemount images heterozygote Ambiguous
Lung  Wholemount images homozygote Ambiguous
Lymph node  Wholemount images heterozygote 0.0% (0 of 2)
Lymph node  Wholemount images homozygote Ambiguous
Mesenteric lymph node  Wholemount images hemizygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images homozygote Ambiguous
Ovary  Wholemount images heterozygote Ambiguous
Ovary  Wholemount images homozygote Ambiguous
Oviduct  Wholemount images heterozygote Ambiguous
Oviduct  Wholemount images homozygote Ambiguous
Parotid gland  Wholemount images hemizygote 0.0% (0 of 2)
Parotid gland  Wholemount images heterozygote Ambiguous
Parotid gland  Wholemount images homozygote Ambiguous
Pituitary gland  Wholemount images homozygote Ambiguous
Prostate gland  Wholemount images hemizygote Ambiguous
Skin  Wholemount images hemizygote Ambiguous
Skin  Wholemount images heterozygote 0.0% (0 of 2)
Spinal cord  Wholemount images hemizygote Ambiguous
Spinal cord  Wholemount images heterozygote 0.0% (0 of 2)
Spinal cord  Wholemount images homozygote 100% (1 of 1)
Spleen  Wholemount images hemizygote Ambiguous
Spleen  Wholemount images heterozygote Ambiguous
Spleen  Wholemount images homozygote Ambiguous
Stomach  Wholemount images hemizygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images homozygote Ambiguous
Sublingual gland  Wholemount images hemizygote 0.0% (0 of 2)
Sublingual gland  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images homozygote Ambiguous
Submandibular gland  Wholemount images hemizygote Ambiguous
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 2)
Submandibular gland  Wholemount images homozygote Ambiguous
Testis  Wholemount images hemizygote Ambiguous
Thyroid gland  Wholemount images hemizygote Ambiguous
Thyroid gland  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images homozygote Ambiguous
Trigeminal V nerve  Wholemount images homozygote 0.0% (0 of 1)
Urinary bladder  Wholemount images hemizygote Ambiguous
Urinary bladder  Wholemount images heterozygote Ambiguous
Urinary bladder  Wholemount images homozygote Ambiguous
Uterus  Wholemount images heterozygote Ambiguous
Uterus  Wholemount images homozygote Ambiguous
Vesicular gland  Wholemount images hemizygote Ambiguous
Adrenal gland N/A hemizygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Adrenal gland N/A homozygote 0.0% (0 of 1)
Aorta N/A hemizygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Aorta N/A homozygote 0.0% (0 of 1)
Brainstem N/A hemizygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brainstem N/A homozygote 0.0% (0 of 1)
Brown adipose tissue N/A hemizygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A homozygote 0.0% (0 of 1)
Cartilage tissue N/A hemizygote Ambiguous
Cartilage tissue N/A heterozygote Ambiguous
Cartilage tissue N/A homozygote Ambiguous
Cerebellum N/A hemizygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A homozygote 0.0% (0 of 1)
Cerebral cortex N/A hemizygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A homozygote 100% (1 of 1)
Colon N/A hemizygote Ambiguous
Colon N/A heterozygote Ambiguous
Colon N/A homozygote Ambiguous
Cranium N/A hemizygote Ambiguous
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Diaphragm N/A hemizygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A homozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Epididymis N/A homozygote Not available
Esophagus N/A hemizygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Esophagus N/A homozygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Gonadal fat pad N/A hemizygote 0.0% (0 of 2)
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Gonadal fat pad N/A homozygote 0.0% (0 of 1)
Heart N/A hemizygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindlimb N/A hemizygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Hippocampus N/A hemizygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A homozygote 0.0% (0 of 1)
Hypothalamus N/A hemizygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A homozygote 0.0% (0 of 1)
Lower urinary tract N/A hemizygote Ambiguous
Lower urinary tract N/A heterozygote Ambiguous
Lower urinary tract N/A homozygote Ambiguous
Lymph node N/A hemizygote 0.0% (0 of 2)
Main olfactory bulb N/A hemizygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A homozygote 0.0% (0 of 1)
Mammary gland N/A hemizygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A homozygote 0.0% (0 of 1)
Mesenteric adipose tissue N/A hemizygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 1)
Midbrain N/A hemizygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Olfactory lobe N/A hemizygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A homozygote 0.0% (0 of 1)
Oral epithelium N/A hemizygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A homozygote 0.0% (0 of 1)
Ovary N/A hemizygote Not available
Oviduct N/A hemizygote Not available
Pancreas N/A hemizygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Pancreas N/A homozygote 0.0% (0 of 1)
Parathyroid gland N/A hemizygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A homozygote 0.0% (0 of 1)
Penis N/A hemizygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Penis N/A homozygote Not available
Peripheral nervous system N/A hemizygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A homozygote 0.0% (0 of 1)
Peyer's patch N/A hemizygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A homozygote 0.0% (0 of 1)
Pituitary gland N/A hemizygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Prostate gland N/A homozygote Not available
Quadriceps N/A hemizygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A homozygote 0.0% (0 of 1)
Sciatic nerve N/A hemizygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A homozygote 0.0% (0 of 1)
Skeletal muscle N/A hemizygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A homozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Small intestine N/A hemizygote Ambiguous
Small intestine N/A heterozygote Ambiguous
Small intestine N/A homozygote Ambiguous
Stomach pyloric region N/A hemizygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A homozygote 0.0% (0 of 1)
Striatum N/A hemizygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Striatum N/A homozygote 100% (1 of 1)
Testis N/A heterozygote Not available
Testis N/A homozygote Not available
Thalamus N/A hemizygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thalamus N/A homozygote 0.0% (0 of 1)
Thymus N/A hemizygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thymus N/A homozygote 0.0% (0 of 1)
Tongue N/A hemizygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Tongue N/A homozygote 0.0% (0 of 1)
Trachea N/A hemizygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trachea N/A homozygote 0.0% (0 of 1)
Trigeminal V nerve N/A hemizygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A hemizygote Not available
Vagina N/A hemizygote Not available
Vagina N/A heterozygote 0.0% (0 of 2)
Vagina N/A homozygote 0.0% (0 of 1)
Vas deferens N/A hemizygote Ambiguous
Vas deferens N/A heterozygote Not available
Vas deferens N/A homozygote Not available
Vascular system N/A hemizygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vascular system N/A homozygote 0.0% (0 of 1)
Vesicular gland N/A heterozygote Not available
Vesicular gland N/A homozygote Not available
White adipose tissue N/A hemizygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A homozygote 0.0% (0 of 1)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 0.0% (0 of 5)
Head N/A heterozygote 0.0% (0 of 5)
Brain N/A heterozygote 0.0% (0 of 5)
Ear N/A heterozygote 0.0% (0 of 5)
Eye N/A heterozygote 0.0% (0 of 5)
Footplate N/A heterozygote 0.0% (0 of 5)
Forearm N/A heterozygote 0.0% (0 of 5)
Forebrain N/A heterozygote 0.0% (0 of 5)
Forelimb N/A heterozygote 0.0% (0 of 5)
Handplate N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 0.0% (0 of 5)
Hindbrain N/A heterozygote 0.0% (0 of 5)
Hindlimb N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower leg N/A heterozygote 0.0% (0 of 5)
Lung N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A heterozygote 0.0% (0 of 5)
Midbrain N/A heterozygote 0.0% (0 of 5)
Oral cavity N/A heterozygote 0.0% (0 of 5)
Skin N/A heterozygote 0.0% (0 of 5)
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail N/A heterozygote 0.0% (0 of 5)
Upper arm N/A heterozygote 0.0% (0 of 5)
Upper leg N/A heterozygote 0.0% (0 of 5)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous

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 Wholemount

188 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Embryo LacZ

LacZ images wholemount

6 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Apln 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 Apln by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Familial Atrial Fibrillation
Exercise intolerance, Fatigue, Atrial fibrillation, Myocardial infarction, Syncope, Chest pain, P... ORPHA:334
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Pulmonary Blastoma
Weight loss ORPHA:64741
Tuberculosis
Weight loss ORPHA:3389
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Idiopathic/Heritable Pulmonary Arterial Hypertension
Fatigue, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Syncop... ORPHA:422
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Anencephaly 2
Anophthalmia OMIM:619452
Atrial Standstill
Fatigue, Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive... ORPHA:1344
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Idiopathic Achalasia
Weight loss ORPHA:930
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Pulmonary Hypertension, Primary, 5
Fatigue, Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension OMIM:265400
Atrial Septal Defect, Sinus Venosus Type
Fatigue, Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shu... ORPHA:99105
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Liddle Syndrome
Fatigue, Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Chronic Hiccup
Weight loss ORPHA:396
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Isaacs Syndrome
Weight loss ORPHA:84142
Congenital Heart Block
Fatigue, Exercise intolerance, Cyanosis, First degree atrioventricular block, Gallop rhythm, Cong... ORPHA:60041
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Isolated Right Ventricular Hypoplasia
Fatigue, Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricul... ORPHA:439
Acquired Methemoglobinemia
Fatigue, Tachycardia, Cyanosis, Abdominal pain, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Mulibrey Nanism
Cachexia ORPHA:2576
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia, Failure to thrive ORPHA:2470
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia, Failure to thrive OMIM:206920
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Loeffler Endocarditis
Aortic regurgitation, Fatigue, Pericarditis, Left ventricular diastolic dysfunction, Congestive h... ORPHA:75566
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Moynahan Syndrome
Cachexia ORPHA:2574
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Fatigue, Bundle branch block, Exercise intolerance, Left-to-right shunt, Abnormally loud pulmonic... ORPHA:99104
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Huntington Disease-Like 2
Weight loss OMIM:606438
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Focal Myositis
Weight loss ORPHA:48918
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Corticosteroid-Binding Globulin Deficiency
Fatigue, Hypertension, Asthenia, Hypotension OMIM:611489
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Nephroblastoma
Aniridia, Weight loss ORPHA:654
Ebstein Malformation Of The Tricuspid Valve
Fatigue, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch... ORPHA:1880
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Mast Cell Sarcoma
Weight loss ORPHA:66661
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Follicular Lymphoma
Weight loss ORPHA:545
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Cockayne Syndrome Type 1
Anophthalmia, Failure to thrive ORPHA:90321
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Perry Syndrome
Weight loss ORPHA:178509
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Juvenile Huntington Disease
Weight loss ORPHA:248111
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Pleural Mesothelioma
Weight loss ORPHA:50251
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Takayasu Arteritis
Arterial stenosis, Weight loss ORPHA:3287
Ring Chromosome 10 Syndrome
Microphthalmia, Cachexia ORPHA:1438
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Pfapa Syndrome
Weight loss ORPHA:42642
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Liposarcoma
Weight loss ORPHA:69078
Cap Polyposis
Weight loss ORPHA:160148
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Bullous Pemphigoid
Weight loss ORPHA:703
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Holoprosencephaly
Microphthalmia, Anophthalmia, Failure to thrive in infancy ORPHA:2162
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Mcdonough Syndrome
Cachexia ORPHA:2471
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Osteosarcoma
Weight loss ORPHA:668
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia, Failure to thrive ORPHA:2538
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Fibular Hemimelia
Anophthalmia ORPHA:93323
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Thymic Carcinoma
Weight loss ORPHA:99868
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Rhabdoid Tumor
Weight loss ORPHA:69077
Pemphigus Vulgaris
Weight loss ORPHA:704
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Christianson Syndrome
Cachexia ORPHA:85278
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Huntington Disease-Like 1
Weight loss ORPHA:157941
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Immunodeficiency 27A
Weight loss OMIM:209950
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Chronic Beryllium Disease
Weight loss ORPHA:133
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Renpenning Syndrome
Cachexia ORPHA:3242
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Kaposi Sarcoma
Weight loss ORPHA:33276
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia, Failure to thrive ORPHA:2556
Leishmaniasis
Weight loss ORPHA:507
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Polyarteritis Nodosa
Weight loss ORPHA:767
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Familial Thrombocytosis
Peripheral arterial stenosis, Weight loss ORPHA:71493
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Yao Syndrome
Weight loss OMIM:617321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Short Syndrome
Hypoplasia of the iris, Weight loss ORPHA:3163
Tetrasomy 12P
Cachexia ORPHA:884
Joubert Syndrome 21
Anophthalmia OMIM:615636
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Obesity, Weight loss ORPHA:251071
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Rheumatoid Arthritis
Weight loss OMIM:180300
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Decreased body weight OMIM:300166
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Microphthalmia With Limb Anomalies
Microphthalmia, Failure to thrive, True anophthalmia ORPHA:1106
Perry Syndrome
Weight loss OMIM:168605
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Oromandibular Dystonia
Weight loss ORPHA:93958
Fatal Familial Insomnia
Weight loss OMIM:600072
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Wolman Disease
Cachexia ORPHA:75233
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Igg4-Related Aortitis
Weight loss ORPHA:449400
Klatskin Tumor
Weight loss ORPHA:99978
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Ménétrier Disease
Weight loss ORPHA:2494
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Aredyld Syndrome
Cachexia ORPHA:1133
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Pneumocystosis
Weight loss ORPHA:723
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Felty Syndrome
Weight loss ORPHA:47612
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Polymyositis
Weight loss ORPHA:732
Refractory Celiac Disease
Weight loss ORPHA:398063
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia, Failure to thrive OMIM:607932
Renal Nutcracker Syndrome
Renal artery stenosis, Weight loss ORPHA:71273
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:212750
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Budd-Chiari Syndrome
Weight loss ORPHA:131
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Weight loss ORPHA:29072
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Primary Myelofibrosis
Cachexia ORPHA:824
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos OMIM:214800
Lysosomal Acid Lipase Deficiency
Failure to thrive, Coronary artery atherosclerosis, Cachexia, Weight loss ORPHA:275761
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Rett Syndrome
Cachexia OMIM:312750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Giant Cell Arteritis
Weight loss ORPHA:397
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Thymoma
Weight loss ORPHA:99867
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Cystic Echinococcosis
Weight loss ORPHA:400
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Pancreatoblastoma
Weight loss ORPHA:677
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Poems Syndrome
Weight loss ORPHA:2905
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Polycythemia Vera
Weight loss ORPHA:729
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Al Amyloidosis
Weight loss ORPHA:85443
Lynch Syndrome
Weight loss ORPHA:144
Whipple Disease
Cachexia ORPHA:3452
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Pyomyositis
Weight loss ORPHA:764
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Tropical Pancreatitis
Weight loss ORPHA:103918
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Trisomy 18
Microphthalmia, Cachexia ORPHA:3380
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Schwartz-Jampel Syndrome
Aplasia/Hypoplasia affecting the eye, Cachexia, Decreased body weight ORPHA:800
Caroli Disease
Weight loss ORPHA:53035
Q Fever
Weight loss ORPHA:781
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia, Weight loss ORPHA:84
Castleman Disease
Weight loss ORPHA:160
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Alveolar Echinococcosis
Weight loss ORPHA:284
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Malt Lymphoma
Weight loss ORPHA:52417
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Riddle Syndrome
Weight loss ORPHA:420741
Erdheim-Chester Disease
Weight loss ORPHA:35687
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Seckel Syndrome
Cachexia ORPHA:808
Mucolipidosis Type Ii
Weight loss ORPHA:576
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Multiple Myeloma
Weight loss ORPHA:29073
Immunodeficiency 31C
Weight loss OMIM:614162
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Marfan Syndrome
Hypoplasia of the iris, Slender build, Increased axial length of the globe, Cachexia ORPHA:558
Rat-Bite Fever
Weight loss ORPHA:31205
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Reactive Arthritis
Weight loss ORPHA:29207
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Brucellosis
Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Ppoma
Weight loss ORPHA:97278
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Somatostatinoma
Weight loss ORPHA:97283
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Parathyroid Carcinoma
Weight loss ORPHA:143
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Cockayne Syndrome
Microphthalmia, Cachexia ORPHA:191
Glucagonoma
Weight loss ORPHA:97280
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Postinfectious Vasculitis
Weight loss ORPHA:48435
Behçet Disease
Weight loss ORPHA:117
Dermatomyositis
Weight loss ORPHA:221
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Norrie Disease
Aplasia/Hypoplasia of the lens, Cachexia, Hypoplasia of the iris, Microphthalmia, Failure to thrive ORPHA:649
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Nocardiosis
Weight loss ORPHA:31204
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Choreoacanthocytosis
Weight loss ORPHA:2388
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia ORPHA:2072
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Sarcoidosis
Weight loss ORPHA:797
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Proteus Syndrome
Buphthalmos, Cachexia ORPHA:744
African Trypanosomiasis
Weight loss ORPHA:3385
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Apln

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Apln.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Aplnr knockout mice display sex-specific changes in conditioned fear. Behavioural brain research (December 2020) Aplnrtm1.1(KOMP)Vlcg 33309737

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Aplntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Aplntm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Aplntm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aplntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Aplntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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