Gene Summary

Name:
apelin
Synonyms:
6030430G11Rik

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.

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)

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

Embryo LacZ

LacZ images wholemount

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Tuberculosis
Weight loss ORPHA:3389
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Pulmonary Blastoma
Weight loss ORPHA:64741
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Fatigue, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Heart ... ORPHA:422
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Idiopathic Achalasia
Weight loss ORPHA:930
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Corticosteroid-Binding Globulin Deficiency
Hypotension, Fatigue, Hypertension OMIM:611489
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Fatigue, Syncope OMIM:265400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Liddle Syndrome
Fatigue, Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Chronic Hiccup
Weight loss ORPHA:396
Isaac Syndrome
Weight loss ORPHA:84142
Huntington Disease-Like 2
Weight loss ORPHA:98934
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Mulibrey Nanism
Cachexia ORPHA:2576
Matthew-Wood Syndrome
Microphthalmia, Failure to thrive, Anophthalmia ORPHA:2470
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Moynahan Syndrome
Cachexia ORPHA:2574
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Huntington Disease-Like 2
Weight loss OMIM:606438
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Pulmonary arterial h... ORPHA:99103
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Focal Myositis
Weight loss ORPHA:48918
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Hodgkin Lymphoma
Weight loss ORPHA:98293
Mast Cell Sarcoma
Weight loss ORPHA:66661
Trisomy 1Q
Anophthalmia ORPHA:261344
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99104
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Nephroblastoma
Aniridia, Weight loss ORPHA:654
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Fatigue, Atrial flutter, Third heart sound, Atrial fibri... ORPHA:99106
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Cockayne Syndrome Type 1
Failure to thrive, Anophthalmia ORPHA:90321
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Follicular Lymphoma
Weight loss ORPHA:545
Juvenile Huntington Disease
Weight loss ORPHA:248111
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Perry Syndrome
Weight loss ORPHA:178509
Ring Chromosome 10 Syndrome
Microphthalmia, Cachexia ORPHA:1438
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Takayasu Arteritis
Arterial stenosis, Weight loss ORPHA:3287
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Fatigue, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Cerebra... ORPHA:1880
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Microgastria-Limb Reduction Defects Association
Failure to thrive, Anophthalmia OMIM:156810
Pleural Mesothelioma
Weight loss ORPHA:50251
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Pfapa Syndrome
Weight loss ORPHA:42642
Liposarcoma
Weight loss ORPHA:69078
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Holoprosencephaly
Microphthalmia, Failure to thrive in infancy, Anophthalmia ORPHA:2162
Bullous Pemphigoid
Weight loss ORPHA:703
Cap Polyposis
Weight loss ORPHA:160148
Osteosarcoma
Weight loss ORPHA:668
Mcdonough Syndrome
Cachexia ORPHA:2471
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Fibular Hemimelia
Anophthalmia ORPHA:93323
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Rhabdoid Tumor
Weight loss ORPHA:69077
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Thymic Carcinoma
Weight loss ORPHA:99868
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Christianson Syndrome
Cachexia ORPHA:85278
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Failure to thrive, Anophthalmia ORPHA:2538
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Xfe Progeroid Syndrome
Cachexia OMIM:610965
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Immunodeficiency 27A
Weight loss OMIM:209950
Huntington Disease-Like 1
Weight loss ORPHA:157941
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Joubert Syndrome 21
Anophthalmia OMIM:615636
Pemphigus Vulgaris
Weight loss ORPHA:704
Hemifacial Microsomia
Microphthalmia, Anophthalmia OMIM:164210
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Kaposi Sarcoma
Weight loss ORPHA:33276
Chronic Beryllium Disease
Weight loss ORPHA:133
Marburg Hemorrhagic Fever
Weight loss ORPHA:99826
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Failure to thrive, Anophthalmia ORPHA:2556
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Renpenning Syndrome
Cachexia ORPHA:3242
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Polyarteritis Nodosa
Weight loss ORPHA:767
Leishmaniasis
Weight loss ORPHA:507
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Short Syndrome
Hypoplasia of the iris, Weight loss ORPHA:3163
Rift Valley Fever
Weight loss ORPHA:319251
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Yao Syndrome
Weight loss OMIM:617321
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Weight loss, Obesity ORPHA:251071
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Tetrasomy 12P
Cachexia ORPHA:884
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Familial Thrombocytosis
Peripheral arterial stenosis, Weight loss ORPHA:71493
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Klatskin Tumor
Weight loss ORPHA:99978
Oromandibular Dystonia
Weight loss ORPHA:93958
Fatal Familial Insomnia
Weight loss OMIM:600072
Rheumatoid Arthritis
Weight loss OMIM:180300
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Microphthalmia, Syndromic 2
Microphthalmia, Decreased body weight, Anophthalmia OMIM:300166
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Wolman Disease
Cachexia ORPHA:75233
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Igg4-Related Aortitis
Weight loss ORPHA:449400
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia, Failure to thrive ORPHA:1106
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Perry Syndrome
Weight loss OMIM:168605
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Ménétrier Disease
Weight loss ORPHA:2494
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Aredyld Syndrome
Cachexia ORPHA:1133
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Cryptosporidiosis
Failure to thrive, Weight loss ORPHA:1549
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Felty Syndrome
Weight loss ORPHA:47612
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Polymyositis
Weight loss ORPHA:732
Pneumocystosis
Weight loss ORPHA:723
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Refractory Celiac Disease
Weight loss ORPHA:398063
Renal Nutcracker Syndrome
Renal artery stenosis, Weight loss ORPHA:71273
Symptomatic Form Of Hemochromatosis Type 1
Weight loss ORPHA:465508
Microphthalmia, Syndromic 6
Microphthalmia, Failure to thrive, Anophthalmia OMIM:607932
Silver-Russell Syndrome
Cachexia, Failure to thrive in infancy, Obesity ORPHA:813
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Primary Intestinal Lymphangiectasia
Failure to thrive, Weight loss ORPHA:90362
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Charge Syndrome
Microphthalmia, Anophthalmia OMIM:214800
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Weight loss ORPHA:29072
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:212750
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Budd-Chiari Syndrome
Weight loss ORPHA:131
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Primary Myelofibrosis
Cachexia ORPHA:824
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Drug Rash With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Giant Cell Arteritis
Weight loss ORPHA:397
Lysosomal Acid Lipase Deficiency
Failure to thrive, Coronary artery atherosclerosis, Cachexia, Weight loss ORPHA:275761
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity ORPHA:85293
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Rett Syndrome
Cachexia OMIM:312750
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Poems Syndrome
Weight loss ORPHA:2905
Cystic Echinococcosis
Weight loss ORPHA:400
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormality of body weight, Increased body weight, Weight loss ORPHA:2298
Polycythemia Vera
Weight loss ORPHA:729
Pancreatoblastoma
Weight loss ORPHA:677
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Whipple Disease
Cachexia ORPHA:3452
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Lynch Syndrome
Weight loss ORPHA:144
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Al Amyloidosis
Weight loss ORPHA:85443
Pyomyositis
Weight loss ORPHA:764
Trisomy 18
Microphthalmia, Cachexia ORPHA:3380
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Caroli Disease
Weight loss ORPHA:53035
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Schwartz-Jampel Syndrome
Aplasia/Hypoplasia affecting the eye, Cachexia, Decreased body weight ORPHA:800
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia, Weight loss ORPHA:84
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Alveolar Echinococcosis
Weight loss ORPHA:284
Thyrotoxic Periodic Paralysis
Weight loss, Obesity ORPHA:79102
Q Fever
Weight loss ORPHA:781
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Riddle Syndrome
Weight loss ORPHA:420741
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Mucolipidosis Type Ii
Weight loss ORPHA:576
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Reactive Arthritis
Weight loss ORPHA:29207
Marfan Syndrome
Slender build, Hypoplasia of the iris, Cachexia, Increased axial length of the globe ORPHA:558
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Erdheim-Chester Disease
Weight loss ORPHA:35687
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Ppoma
Weight loss ORPHA:97278
Rat-Bite Fever
Weight loss ORPHA:31205
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Seckel Syndrome
Cachexia ORPHA:808
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Somatostatinoma
Weight loss ORPHA:97283
Castleman Disease
Weight loss ORPHA:160
Malt Lymphoma
Weight loss ORPHA:52417
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Vipoma
Weight loss ORPHA:97282
Grfoma
Weight loss ORPHA:97261
Multiple Myeloma
Weight loss ORPHA:29073
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Glucagonoma
Weight loss ORPHA:97280
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Parathyroid Carcinoma
Weight loss ORPHA:143
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Cockayne Syndrome
Microphthalmia, Cachexia ORPHA:191
Brucellosis
Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Dermatomyositis
Weight loss ORPHA:221
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Weight loss ORPHA:99889
Nijmegen Breakage Syndrome