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 0.37% (2 of 547)
aorta 0.0%
bone 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cecum 5.67% (20 of 353)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
chest bone Unavailable
colon 16.15% (21 of 130)
cranium
diaphragm 0.0%
duodenum 3.2% (4 of 125)
epididymis 14.49% (20 of 138)
esophagus 1.57% (6 of 383)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.78% (1 of 129)
heart 0.36% (2 of 559)
hindlimb 0.0%
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
ileum 14.84% (19 of 128)
jejunum 9.45% (12 of 127)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.33% (1 of 306)
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
oral epithelium 0.0%
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.19% (1 of 536)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
stomach pyloric region 0.0%
striatum 0.55% (3 of 546)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.09% (6 of 550)
thalamus 0.0%
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
tongue 4.03% (5 of 124)
trachea 0.54% (3 of 555)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 541)
vagina 0.0%
vas deferens 4.1% (15 of 366)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

6 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
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Tuberculosis
Weight loss ORPHA:3389
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Pulmonary Blastoma
Weight loss ORPHA:64741
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Anencephaly 2
Anophthalmia OMIM:619452
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Fatigue, Syncope, Heart murmur, Abnormal cardiovascular sy... ORPHA:422
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Idiopathic Achalasia
Weight loss ORPHA:930
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Fatigue, Syncope, Pulmonary arterial hypertension OMIM:265400
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Corticosteroid-Binding Globulin Deficiency
Hypertension, Fatigue, Hypotension OMIM:611489
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Liddle Syndrome
Hypertension, Arrhythmia, Fatigue, Cerebral ischemia ORPHA:526
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Isaacs Syndrome
Weight loss ORPHA:84142
Chronic Hiccup
Weight loss ORPHA:396
Huntington Disease-Like 2
Weight loss ORPHA:98934
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Mulibrey Nanism
Cachexia ORPHA:2576
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Matthew-Wood Syndrome
Failure to thrive, Anophthalmia, Microphthalmia ORPHA:2470
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Cyanosis, Right-to-left shunt, Right ventricular ... ORPHA:439
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Huntington Disease-Like 2
Weight loss OMIM:606438
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Moynahan Syndrome
Cachexia ORPHA:2574
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Exercise intolerance, Systolic heart murmur, Transient ischemic atta... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Exercise intolerance, Systolic heart murmur, Pr... ORPHA:99104
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Focal Myositis
Weight loss ORPHA:48918
Atrial Septal Defect, Ostium Primum Type
Exercise intolerance, Systolic heart murmur, Right bundle branch block, Atrioventricular block, P... ORPHA:99106
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Hodgkin Lymphoma
Weight loss ORPHA:98293
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Nephroblastoma
Weight loss, Aniridia ORPHA:654
Mast Cell Sarcoma
Weight loss ORPHA:66661
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Follicular Lymphoma
Weight loss ORPHA:545
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Cockayne Syndrome Type 1
Failure to thrive, Anophthalmia ORPHA:90321
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Juvenile Huntington Disease
Weight loss ORPHA:248111
Perry Syndrome
Weight loss ORPHA:178509
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Takayasu Arteritis
Weight loss, Arterial stenosis ORPHA:3287
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Ring Chromosome 10 Syndrome
Cachexia, Microphthalmia ORPHA:1438
Pleural Mesothelioma
Weight loss ORPHA:50251
Pfapa Syndrome
Weight loss ORPHA:42642
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Microgastria-Limb Reduction Defects Association
Failure to thrive, Anophthalmia OMIM:156810
Liposarcoma
Weight loss ORPHA:69078
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Cap Polyposis
Weight loss ORPHA:160148
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia OMIM:206900
Bullous Pemphigoid
Weight loss ORPHA:703
Holoprosencephaly
Anophthalmia, Failure to thrive in infancy, Microphthalmia ORPHA:2162
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Osteosarcoma
Weight loss ORPHA:668
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Mcdonough Syndrome
Cachexia ORPHA:2471
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia ORPHA:1101
Fibular Hemimelia
Anophthalmia ORPHA:93323
Thymic Carcinoma
Weight loss ORPHA:99868
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Rhabdoid Tumor
Weight loss ORPHA:69077
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Anophthalmia, Microphthalmia ORPHA:2538
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Huntington Disease-Like 1
Weight loss ORPHA:157941
Christianson Syndrome
Cachexia ORPHA:85278
Immunodeficiency 27A
Weight loss OMIM:209950
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Joubert Syndrome 21
Anophthalmia OMIM:615636
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Pemphigus Vulgaris
Weight loss ORPHA:704
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Kaposi Sarcoma
Weight loss ORPHA:33276
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Chronic Beryllium Disease
Weight loss ORPHA:133
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Renpenning Syndrome
Cachexia ORPHA:3242
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Anophthalmia, Microphthalmia ORPHA:2556
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Polyarteritis Nodosa
Weight loss ORPHA:767
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:564
Leishmaniasis
Weight loss ORPHA:507
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Familial Thrombocytosis
Peripheral arterial stenosis, Weight loss ORPHA:71493
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Short Syndrome
Weight loss, Hypoplasia of the iris ORPHA:3163
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Tetrasomy 12P
Cachexia ORPHA:884
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Yao Syndrome
Weight loss OMIM:617321
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Pulmonary artery stenosis ORPHA:251071
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Microphthalmia, Syndromic 2
Decreased body weight, Anophthalmia, Microphthalmia OMIM:300166
Oromandibular Dystonia
Weight loss ORPHA:93958
Fatal Familial Insomnia
Weight loss OMIM:600072
Rheumatoid Arthritis
Weight loss OMIM:180300
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Klatskin Tumor
Weight loss ORPHA:99978
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Wolman Disease
Cachexia ORPHA:75233
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Charge Syndrome
Anophthalmia, Microphthalmia ORPHA:138
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Loeffler Endocarditis
Weight loss ORPHA:75566
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Ménétrier Disease
Weight loss ORPHA:2494
Perry Syndrome
Weight loss OMIM:168605
Microphthalmia With Limb Anomalies
Failure to thrive, True anophthalmia, Microphthalmia ORPHA:1106
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Igg4-Related Aortitis
Weight loss ORPHA:449400
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Aredyld Syndrome
Cachexia ORPHA:1133
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Felty Syndrome
Weight loss ORPHA:47612
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Polymyositis
Weight loss ORPHA:732
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Pneumocystosis
Weight loss ORPHA:723
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Refractory Celiac Disease
Weight loss ORPHA:398063
Microphthalmia, Syndromic 6
Failure to thrive, Anophthalmia, Microphthalmia OMIM:607932
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Symptomatic Form Of Hemochromatosis Type 1
Weight loss ORPHA:465508
Renal Nutcracker Syndrome
Weight loss, Renal artery stenosis ORPHA:71273
Budd-Chiari Syndrome
Weight loss ORPHA:131
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Silver-Russell Syndrome
Obesity, Failure to thrive in infancy, Cachexia ORPHA:813
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Primary Myelofibrosis
Cachexia ORPHA:824
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Aniridia ORPHA:29072
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia OMIM:214800
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:212750
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Rett Syndrome
Cachexia OMIM:312750
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Lysosomal Acid Lipase Deficiency
Coronary artery atherosclerosis, Failure to thrive, Weight loss, Cachexia ORPHA:275761
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Giant Cell Arteritis
Weight loss ORPHA:397
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Thymoma
Weight loss ORPHA:99867
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Poems Syndrome
Weight loss ORPHA:2905
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Cystic Echinococcosis
Weight loss ORPHA:400
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Pancreatoblastoma
Weight loss ORPHA:677
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Insulin-Resistance Syndrome Type B
Increased body weight, Weight loss, Decreased body weight, Abnormality of body weight ORPHA:2298
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Polycythemia Vera
Weight loss ORPHA:729
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Al Amyloidosis
Weight loss ORPHA:85443
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Whipple Disease
Cachexia ORPHA:3452
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Simple Cryoglobulinemia
Weight loss ORPHA:91139
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Pyomyositis
Weight loss ORPHA:764
Lynch Syndrome
Weight loss ORPHA:144
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Tropical Pancreatitis
Weight loss ORPHA:103918
Trisomy 18
Cachexia, Microphthalmia ORPHA:3380
Caroli Disease
Weight loss ORPHA:53035
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Q Fever
Weight loss ORPHA:781
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Alveolar Echinococcosis
Weight loss ORPHA:284
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Schwartz-Jampel Syndrome
Aplasia/Hypoplasia affecting the eye, Cachexia, Decreased body weight ORPHA:800
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Fanconi Anemia
Weight loss, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Castleman Disease
Weight loss ORPHA:160
Mucolipidosis Type Ii
Weight loss ORPHA:576
Riddle Syndrome
Weight loss ORPHA:420741
Erdheim-Chester Disease
Weight loss ORPHA:35687
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Seckel Syndrome
Cachexia ORPHA:808
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Marfan Syndrome
Slender build, Cachexia, Hypoplasia of the iris, Increased axial length of the globe ORPHA:558
Malt Lymphoma
Weight loss ORPHA:52417
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Rat-Bite Fever
Weight loss ORPHA:31205
Reactive Arthritis
Weight loss ORPHA:29207
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Multiple Myeloma
Weight loss ORPHA:29073
Ppoma
Weight loss ORPHA:97278
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Somatostatinoma
Weight loss ORPHA:97283
Craniofacial Microsomia