Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
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) |
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases 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 |