Gene Summary

Name:
fibronectin type III domain containing 4
Synonyms:
FRCP1,  2810430J06Rik,  6330410H20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Fndc4tm1.1(KOMP)Vlcg HOM   Early adult 1.02×10-06
increased vertical activity Fndc4tm1.1(KOMP)Vlcg HOM   Early adult 2.95×10-05
limb grasping Fndc4tm1.1(KOMP)Vlcg HOM Early adult 5.37×10-05
increased fasting circulating glucose level Fndc4tm1.1(KOMP)Vlcg HOM   Early adult 1.11×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 50% (1 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
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 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Sleep Wake

Wake state (bmp file)

4 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Fndc4 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 Fndc4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia OMIM:191390
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... OMIM:266600
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... ORPHA:70482
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal larg... ORPHA:2198
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Idiopathic Achalasia
Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux ORPHA:930
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mantle Cell Lymphoma
Weight loss, Anorexia, Abnormality of the gastrointestinal tract ORPHA:52416
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Cap Polyposis
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Weight loss, Hematochezia, Diarrh... ORPHA:160148
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... ORPHA:26790
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... OMIM:613662
Hirschsprung Disease
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... ORPHA:388
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Microglossia, Gastrostom... ORPHA:141152
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Tuberculosis
Weight loss ORPHA:3389
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... ORPHA:95427
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Esophagitis, Eosinophilic, 1
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:613412
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... OMIM:300635
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Gastritis, Perianal absce... OMIM:618108
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Ménétrier Disease
Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicobacter pylori infec... ORPHA:2494
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Diarrhea OMIM:614602
Pfapa Syndrome
Nausea and vomiting, Infectious encephalitis, Weight loss, Malabsorption, Arthritis, Abdominal pain ORPHA:42642
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Feeding difficulties, Cachexia, Weight loss OMIM:612075
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:615924
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Failure to thrive, Arthritis, Ch... OMIM:608809
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Arthritis, Malab... ORPHA:92050
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... ORPHA:35878
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Abdominal distention... ORPHA:1876
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Weight loss, Anorexia ORPHA:100083
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si... OMIM:619281
Reticular Dysgenesis
Chronic otitis media, Failure to thrive, Weight loss, Malabsorption, Skin rash, Diarrhea ORPHA:33355
Eosinophilic Gastroenteritis
Atopic dermatitis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Malabsorption, Steatorrhe... ORPHA:2070
Immunodeficiency 70
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis OMIM:618969
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis OMIM:604416
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Villous atrophy, Protracted diarrhea, Failure to thrive, Ma... OMIM:209920
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent... ORPHA:209964
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Vomiting, Gastrointestinal dysmotility, Weight loss, Intestinal perforation, Slender bu... OMIM:603041
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Intestinal obstruction, Gastrointestinal h... ORPHA:97286
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Hereditary Central Diabetes Insipidus
Weight loss, Diarrhea, Vomiting ORPHA:30925
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis OMIM:618394
Galactose Epimerase Deficiency
Nausea and vomiting, Weight loss, Feeding difficulties ORPHA:79238
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Skin rash, Enterocolitis, Se... OMIM:616050
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss, Abdominal distention, Abdominal pain, Constipation ORPHA:168816
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Weight loss, Neoplasm of the liver, Abdominal pain ORPHA:90003
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Colonic eosinophilia, Eosinophilic ... OMIM:618999
Focal Myositis
Weight loss, Myositis ORPHA:48918
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:612716
Budd-Chiari Syndrome
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Intestin... ORPHA:131
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... ORPHA:324964
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Isaac Syndrome
Weight loss ORPHA:84142
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Mulibrey Nanism
Cachexia ORPHA:2576
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... ORPHA:67
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Inflammation of the large intestine OMIM:617718
Microcolon
Microcolon OMIM:251400
Immunodeficiency 58
Eczema, Allergic rhinitis, Dysphagia, Helicobacter pylori infection, Recurrent cutaneous abscess ... OMIM:618131
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Huntington Disease-Like 2
Weight loss ORPHA:98934
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Abdominal distention, Weight... ORPHA:298
Morm Syndrome
Hyperactivity ORPHA:75858
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Weight loss, Pancreatitis, Chronic diarr... ORPHA:65682
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Failure ... ORPHA:911
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Failure to thriv... OMIM:614700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... ORPHA:37042
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... OMIM:617321
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:86893
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to thrive, Weight... ORPHA:47
Wolman Disease
Nausea and vomiting, Cachexia, Esophageal varix, Abdominal distention, Steatorrhea, Hepatic failu... ORPHA:75233
Cronkhite-Canada Syndrome
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Malabsorption, H... ORPHA:2930
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea ORPHA:178029
Shigellosis
Myocarditis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Ulcerative colitis, Vomiting, Pne... ORPHA:810
Laryngotracheoesophageal Cleft Type 4
Cachexia, Intestinal atresia, Tracheoesophageal fistula ORPHA:93941
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Type II diabetes mellitus, Hyperglycemia OMIM:520000
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hamartomatou... OMIM:175500
Attrv30M Amyloidosis
Weight loss, Diarrhea, Constipation ORPHA:85447
Oculopharyngodistal Myopathy
High, narrow palate, High palate, Recurrent aspiration pneumonia, Weight loss, Impaired oropharyn... ORPHA:98897
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Weight loss, Steatorrhea, Exocrine pan... ORPHA:309031
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Tremor, Hyperactivity, Resting tremor, Broad-based gait ORPHA:3077
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Abdominal distention, Weight loss, Ileus, Abdominal pain ORPHA:83469
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma, Poor appetite ORPHA:312
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:301220
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Tremor, Hyperactivity, Ataxia, Gait ataxia, Hyperinsulinemia, Limb dystonia ORPHA:363400
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Cachexia, Pustule, Synoviti... ORPHA:77297
Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:98293
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Lethargy ORPHA:2089
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Moynahan Syndrome
Cachexia ORPHA:2574
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Hyperactivity, Inability to walk OMIM:618718
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss, Chronic diarrhea, Poor appetite, Glossitis ORPHA:2221
Glucose-Galactose Malabsorption
Vomiting, Failure to thrive, Abdominal distention, Weight loss, Hyperactive bowel sounds, Malnutr... ORPHA:35710
Refractory Celiac Disease
Inflammatory abnormality of the skin, Jejunitis, Villous atrophy, Weight loss, Malabsorption, Chr... ORPHA:398063
Huntington Disease-Like 2
Weight loss OMIM:606438
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Pemphigus Vulgaris
Weight loss, Feeding difficulties in infancy, Recurrent cutaneous abscess formation ORPHA:704
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Rhabdoid Tumor
Nausea and vomiting, Weight loss, Neoplasm of the liver, Poor appetite, Abdominal pain ORPHA:69077
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Familial Pancreatic Carcinoma
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... ORPHA:1333
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Crohn's disease, Perianal abscess, Anal fissure, Acute pancreatitis, Recur... OMIM:618935
Allergic Bronchopulmonary Aspergillosis
Weight loss, Bronchiectasis ORPHA:1164
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Nephroblastoma
Weight loss, Abdominal pain, Neoplasm of the liver ORPHA:654
Immunodeficiency 27A
Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Increased inflammatory response, Diar... OMIM:209950
Eosinophilic Fasciitis
Weight loss, Fasciitis, Arthritis, Myositis ORPHA:3165
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Cln5 Disease
Dysmetria, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, ... ORPHA:228360
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Neuroendocrine Tumor Of The Rectum
Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel sounds, Protra... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel sounds, Protra... ORPHA:100082
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Weight loss, Arthritis, Osteomyelitis... ORPHA:29207
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Vomiting, Morphological abnormality of the gastrointestinal tract... ORPHA:1018
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... ORPHA:90038
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... OMIM:155310
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Acrodermatitis Enteropathica
Anorexia, Pustule, Cheilitis, Failure to thrive, Weight loss, Furrowed tongue, Malabsorption, Chr... ORPHA:37
Polyarteritis Nodosa
Weight loss, Pericarditis, Abdominal pain, Abnormality of the gastrointestinal tract ORPHA:767
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Klatskin Tumor
Weight loss, Abdominal pain, Cholangiocarcinoma ORPHA:99978
Erythrokeratodermia Variabilis
Weight loss, Skin rash ORPHA:317
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Vomiting OMIM:143880
Thymoma
Myositis, Neoplasm of the gastrointestinal tract, Weight loss, Rheumatoid arthritis, Glomerulonep... ORPHA:99867
Mast Cell Sarcoma
Weight loss ORPHA:66661
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Anorexia, Bowel urgency, Protracted diarrhea, Weight loss, Melena, Lack of bowel... ORPHA:100080
Takayasu Arteritis
Anorexia, Gastrointestinal infarctions, Weight loss, Arthritis, Increased inflammatory response, ... ORPHA:3287
Congenital Muscular Dystrophy Due To Lmna Mutation
Feeding difficulties, Cachexia ORPHA:157973
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Weight... ORPHA:31205
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Kaposi Sarcoma
Weight loss, Diarrhea, Skin rash, Abnormality of the gastrointestinal tract ORPHA:33276
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Gand Syndrome
Hyperactivity OMIM:615074
Medullary Thyroid Carcinoma
Weight loss, Dysphagia, Diarrhea ORPHA:1332
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Perioral eczema, Weight loss, Keratoconjunctivitis ORPHA:79242
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforati... ORPHA:679
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hepatitis, Gastritis, Crohn's disease, Diarrhea, Abdominal pain, Villous atrophy,... OMIM:619381
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Feeding difficulties in infancy, Failure to thrive in infancy, Pustule, Vomiti... ORPHA:171876
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Cachexia ORPHA:85278
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix, Failure to thrive OMIM:614576
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Nausea and vomiting, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditi... ORPHA:183
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon ORPHA:1438
Classic Hodgkin Lymphoma
Poor appetite, Weight loss, Anorexia, Skin rash ORPHA:391
Fatal Familial Insomnia
Weight loss, Dysphagia, Constipation OMIM:600072
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Hypoglycemia, Hyperglycemia OMIM:220111
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Osteootohepatoenteric Syndrome
Villous atrophy, Ileoileal intussusception, Episodic vomiting, Failure to thrive, Weight loss, In... OMIM:619377
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Aggressive Systemic Mastocytosis
Anorexia, Abdominal cramps, Weight loss, Malabsorption, Decreased liver function, Gastrointestina... ORPHA:98850
Anaplastic Thyroid Carcinoma
Weight loss, Dysphagia, Tracheoesophageal fistula ORPHA:142
Sepsis In Premature Infants
Vomiting, Small for gestational age, Functional abnormality of the gastrointestinal tract, Gastro... ORPHA:90051
Perry Syndrome
Weight loss ORPHA:178509
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Weight loss, Panniculitis, Inflammatory abnormality of the eye, Abdominal pain ORPHA:33577
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Familial Hemophagocytic Lymphohistiocytosis
Infectious encephalitis, Erythroderma, Decreased liver function, Maculopapular exanthema, Skin ra... ORPHA:540
Follicular Lymphoma
Weight loss ORPHA:545
X-Linked Creatine Transporter Deficiency
Cachexia, Aganglionic megacolon, Ileus, Constipation ORPHA:52503
Pancreatoblastoma
Vomiting, Weight loss, Abdominal distention, Diarrhea, Abdominal pain ORPHA:677
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Familial Colorectal Cancer Type X
Nausea and vomiting, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Weight los... ORPHA:440437
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Weight loss, Abdominal pain ORPHA:449400
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Vomiting, Nausea, Weight loss, Intestinal perforation, Dyspepsia, D... ORPHA:85450
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Nausea and vomiting, Weight loss, Diarrhea ORPHA:1842
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Lynch Syndrome
Nausea and vomiting, Neoplasm of the rectum, Hepatocellular carcinoma, Weight loss, Malabsorption... ORPHA:144
Wilson Disease
Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Acute hepatic failure, Inc... ORPHA:905
Microsporidiosis
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abdominal pain, Infectious encephalitis, Vomiting... ORPHA:2552
Idiopathic Bronchiectasis
Cachexia, Acute infectious pneumonia, Bronchiectasis ORPHA:60033
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Riboflavin Transporter Deficiency
Dysphagia, Cachexia ORPHA:97229
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Ileal Neuroendocrine Tumor
Gastrointestinal obstruction, Small intestine carcinoid, Functional intestinal obstruction, Nause... ORPHA:100078
Jejunal Neuroendocrine Tumor
Gastrointestinal obstruction, Small intestine carcinoid, Functional intestinal obstruction, Nause... ORPHA:100077
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Bloody diarrhea, Anorexia, Bowel urgency, Protracted diarrhea, Weight loss, ... ORPHA:100075
Tetrasomy 12P
Cachexia, Abnormal soft palate morphology, Anal atresia ORPHA:884
Renpenning Syndrome
High, narrow palate, Cachexia, Cleft palate, Anal atresia ORPHA:3242
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Celiac Disease, Susceptibility To, 1
Eczema, Vomiting, Stomatitis, Celiac disease, Failure to thrive, Abdominal distention, Weight los... OMIM:212750
Wild Type Attr Amyloidosis
Gastrointestinal dysmotility, Weight loss, Chronic diarrhea, Intermittent diarrhea, Bowel inconti... ORPHA:330001
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia, Aspiration pneumonia ORPHA:216866
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Gallbladder Neuroendocrine Tumor
Anorexia, Nausea, Abdominal distention, Biliary tract neoplasm, Weight loss, Episodic abdominal p... ORPHA:100086
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder ORPHA:1942
Sandifer Syndrome
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Huntington Disease
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss ORPHA:399
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... ORPHA:2908
Felty Syndrome
Sinusitis, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Rhinitis, Weight loss, Ar... ORPHA:47612
Polymyositis
Anorexia, Pericarditis, Weight loss, Arthritis, Gastrointestinal hemorrhage, Gastroesophageal ref... ORPHA:732
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Diarrhea, Bronchiectasis ORPHA:411703
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Failure to thrive, Eosinophilic infiltration of the esophagus, Perianal abscess,... OMIM:618213
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Melena, Intussusce... ORPHA:79076
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Weight loss, Pancreatitis, Diarrhea, Abdominal pain ORPHA:188
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis ORPHA:86884
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Whipple Disease
Myocarditis, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Myositis, Arthritis, Mala... ORPHA:3452
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Histidinemia
Hyperactivity ORPHA:2157
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Hypoglycemia, Insulin resistance ORPHA:73272
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... ORPHA:3260
Tropical Pancreatitis
Vomiting, Nausea, Weight loss, Chronic calcifying pancreatitis, Malnutrition ORPHA:103918
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Osteosarcoma
Weight loss ORPHA:668
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Chronic Beryllium Disease
Weight loss, Lymphocytic interstitial pneumonia ORPHA:133
Imerslund-Gräsbeck Syndrome
Vomiting, Failure to thrive, Weight loss, Angular cheilitis, Poor appetite, Glossitis, Constipation ORPHA:35858
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus OMIM:614613
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, High palate, Gastroesophageal reflux OMIM:618186
Ppoma
Nausea and vomiting, Anorexia, Hypoactive bowel sounds, Weight loss, Neoplasm of the small intest... ORPHA:97278
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Leishmaniasis
Rhinitis, Weight loss, Anorexia ORPHA:507
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Thymic Carcinoma
Weight loss ORPHA:99868
Syndromic Diarrhea
Bloody diarrhea, Villous atrophy, Small for gestational age, Intractable diarrhea, Hepatoblastoma... ORPHA:84064
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomiting, Pneumonia... ORPHA:544482
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity OMIM:619467
Fragile X Syndrome
Hyperactivity OMIM:300624
Mcdonough Syndrome
Cachexia ORPHA:2471
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... ORPHA:171
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Weight loss, Abnormality of the gastrointestinal tract ORPHA:2902
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Hyperactivity, Gait ataxia OMIM:300354
Zollinger-Ellison Syndrome
Duodenal ulcer, Peptic ulcer, Nausea, Weight loss, Esophagitis, Episodic abdominal pain, Intestin... ORPHA:913
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Feeding difficulties, Failure to thrive in infancy, Cachexia, Constipation OMIM:616801
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... ORPHA:391487
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Non-Functioning Paraganglioma
Episodic abdominal pain, Weight loss, Nausea ORPHA:94080
Rheumatoid Arthritis
Weight loss, Rheumatoid arthritis OMIM:180300
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hepatocellular carcinoma, Failure to thrive, Protuberant abd... ORPHA:79259
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Diarrhea, Abdominal pain ORPHA:54251
Glossopharyngeal Neuralgia
Feeding difficulties, Weight loss, Odynophagia, Oral-pharyngeal dysphagia, Malnutrition ORPHA:221098
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Microcolon, Intestinal malrotation OMIM:619431
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... ORPHA:3243
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Nausea and vomiting, Weight loss ORPHA:3226
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss, Diarrhea, Abdominal pain OMIM:256700
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Anorexia, Celiac disease, Failure to thrive, Weight loss, Hepatitis, Hashimo... ORPHA:199299
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Diarrhea, Small for gestational age ORPHA:424
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
Toxic Epidermal Necrolysis
Nausea and vomiting, Dysphagia, Weight loss, Intestinal perforation, Pancreatitis, Malabsorption,... ORPHA:537
Caroli Disease
Cholangitis, Anorexia, Esophageal varix, Vomiting, Cholangiocarcinoma, Nausea, Weight loss, Abdom... ORPHA:53035
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Glucagonoma
Nausea and vomiting, Abnormal gastrointestinal motility, Anorexia, Stomatitis, Weight loss, Episo... ORPHA:97280
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss, Bronchiectasis ORPHA:79127
Grfoma
Nausea and vomiting, Anorexia, Hypoactive bowel sounds, Weight loss, Neoplasm of the small intest... ORPHA:97261
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Xfe Progeroid Syndrome
Cachexia OMIM:610965
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... ORPHA:90068
Somatostatinoma
Nausea and vomiting, Anorexia, Weight loss, Neoplasm of the small intestine, Episodic abdominal p... ORPHA:97283
Pneumocystosis
Weight loss, Chronic oral candidiasis, Interstitial pneumonitis, Acute infectious pneumonia ORPHA:723
Gm1 Gangliosidosis
Dysphagia, Infectious encephalitis, Macroglossia, Feeding difficulties, Weight loss, Failure to t... ORPHA:354
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Cachexia, Diarrhea, Vomiting ORPHA:42
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia OMIM:614104
Bronchial Neuroendocrine Tumor
Anorexia, Bowel urgency, Pneumonia, Protracted diarrhea, Weight loss, Poor appetite, Hepatic failure ORPHA:97287
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Huntington Disease-Like 1
Weight loss ORPHA:157941
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Eczema, Bronchiectasis, Failure to thrive, Weight loss, Rheumatoid ar... ORPHA:79128
Plague
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, Endocard... ORPHA:707
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... ORPHA:562639
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Abnormality of hepatobiliary system physiolog... ORPHA:1304
Mend Syndrome
Hyperactivity OMIM:300960
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Cachexia, Esophageal varix, Vomiting, Failure to thrive, Feeding difficultie... ORPHA:275761
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Feeding difficulties in infancy ORPHA:3208
Behçet Disease
Keratoconjunctivitis sicca, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis,... ORPHA:117
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hepatocellular carcinoma, Weight loss, Arthritis, Chronic hepatic failure, Ab... ORPHA:465508
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Nausea, Abdominal distention, Weight loss, Neoplasm of the liver, Episodic abdominal pa... ORPHA:100085
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Pelizaeus-Merzbacher Disease
Bowel incontinence, Failure to thrive in infancy, Cachexia ORPHA:702
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Cryptogenic Organizing Pneumonia
Weight loss, Anorexia ORPHA:1302
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia, Opisthotonus OMIM:103050
Simple Cryoglobulinemia
Pericarditis, Weight loss, Nephritis, Arthritis, Gastrointestinal hemorrhage, Abnormality of the ... ORPHA:91139
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abdominal distention, Intestinal malrotation, Hypoperistalsis, Abnormality o... ORPHA:2241
Pyomyositis
Weight loss, Recurrent cutaneous abscess formation, Myositis ORPHA:764
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia ORPHA:228402
Stevens-Johnson Syndrome
Nausea and vomiting, Dysphagia, Weight loss, Pancreatitis, Gastrointestinal hemorrhage, Acute hep... ORPHA:36426
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Ar...