Gene Summary

Name:
dipeptidylpeptidase 9
Synonyms:
6430584G11Rik,  DPRP2

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
increased thigmotaxis Dpp9tm1b(EUCOMM)Hmgu HET Early adult 4.85×10-06
preweaning lethality, complete penetrance Dpp9tm1b(EUCOMM)Hmgu HOM   Early adult 2.39×10-07
abnormal behavior Dpp9tm1a(EUCOMM)Hmgu HET Early adult 6.62×10-16
increased circulating alkaline phosphatase level Dpp9tm1a(EUCOMM)Hmgu HET Early adult 1.94×10-05
abnormal behavior Dpp9tm1b(EUCOMM)Hmgu HET Early adult 4.85×10-06
increased anxiety-related response Dpp9tm1b(EUCOMM)Hmgu HET Early adult 1.02×10-05
increased circulating iron level Dpp9tm1b(EUCOMM)Hmgu HET   Early adult 1.42×10-05
abnormal lens morphology Dpp9tm1b(EUCOMM)Hmgu HET Early adult 9.17×10-05
decreased circulating phosphate level Dpp9tm1a(EUCOMM)Hmgu HET Early adult 1.27×10-06
increased circulating serum albumin level Dpp9tm1a(EUCOMM)Hmgu HET Early adult 6.57×10-08

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem 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)
Cecum 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)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb 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)
Kidney N/A heterozygote 100% (2 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 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
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
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region 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)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

22 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

11 Images

Human diseases caused by Dpp9 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.

The table below shows human diseases associated to Dpp9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hatipoglu Immunodeficiency Syndrome
Failure to thrive OMIM:620331
Idiopathic Pulmonary Fibrosis
ORPHA:2032

The table below shows human diseases predicted to be associated to Dpp9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy OMIM:155900
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Pyknoachondrogenesis
Stillbirth OMIM:265880
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Knee flexion contracture, Dysphagia, Tongue atrophy, Low... ORPHA:496689
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hartnup Disorder
Attention deficit hyperactivity disorder, Glossitis, Hyperactivity OMIM:234500
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul... OMIM:158900
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy, Dysphagia OMIM:613435
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Diarrhea 13
Hypoalbuminemia OMIM:620357
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Oral-pharyngeal dysphagia, Facial diplegia, Death in infancy, Neonatal death, ... OMIM:616287
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate ORPHA:141152
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Plummer-Vinson Syndrome
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Dysphagia, Glossitis, Cheilitis, Tong... ORPHA:54028
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Catel-Manzke Syndrome
Failure to thrive, Oral synechia, Camptodactyly of finger, Glossoptosis, Cleft palate ORPHA:1388
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Dysphagia, Compulsive behaviors, Tongue atrophy, Impulsivity ORPHA:216873
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Burning Mouth Syndrome
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Tongue atrophy, Distal amyotrophy, Weakness of facial musculature OMIM:254300
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Ichthyosis, Congenital, Autosomal Recessive 4B
Death in infancy, Everted lower lip vermilion, Failure to thrive, Neonatal death OMIM:242500
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... OMIM:614669
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth, Small for gestational age, Neonatal death OMIM:227270
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Lipoid Proteinosis
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... ORPHA:530
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized amyotrophy OMIM:616540
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Obesity, Abnormal eating behavior, Inappropriate laughter, Protruding tongue... ORPHA:411511
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Macroglossia
Macroglossia OMIM:153630
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Shoulder flexion contracture, Long philtrum, Elbow flexion co... OMIM:277720
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Foot dorsiflexor weakness, Tongue atrophy, Upper limb muscle weakness, Lower limb muscle weakness OMIM:616155
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Facial palsy ORPHA:2743
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Thin upper lip vermilion, Short philtrum, Motor stereotypy, Lobulate... OMIM:613443
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Truncal obesity, Camptodactyly of finger ORPHA:2928
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atr... OMIM:620285
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Dental crowding, Exaggerated median tongue furrow, Aggressive behavior, ... ORPHA:313892
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Gracile Syndrome
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... OMIM:603358
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Aggressive behavior, Glossoptosis, Failure to thrive, Cleft palate OMIM:618356
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Reduced muscle fiber alpha dystroglycan, Multiple joint contrac... ORPHA:370968
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive, Anorexia, Glossitis, Cheilitis ORPHA:90045
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Cronkhite-Canada Syndrome
Furrowed tongue, Stomach cancer, Intestinal polyposis, Cachexia, Anorexia, Hypogeusia, Hamartomat... ORPHA:2930
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Xerostomia, Skeletal muscle atrophy, Lower limb muscle weakn... ORPHA:803
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... OMIM:602483
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Weight loss ORPHA:2221
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... OMIM:300602
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum ORPHA:1387
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Diastema, Furrowed tongue, Distal lower limb amyotrophy, Decreased body weight... OMIM:300534
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... ORPHA:3241
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Obesity, Abnormal eating behavior, Inappropriate laughter, Protruding tongue... ORPHA:98794
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Dent Disease 1
Hypophosphatemia OMIM:300009
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy, Dysphagia, Skeletal muscle atrophy OMIM:614153
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Skeletal muscle atrophy, Attention deficit hyperactivity disorder, Dysphag... ORPHA:276198
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Overfriendliness, Thin upper lip vermilion, Medi... OMIM:174300
Hypoglossia With Situs Inversus
Hypodontia, High palate, Microglossia, Narrow mouth OMIM:612776
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Acrodermatitis Enteropathica
Failure to thrive, Furrowed tongue, Weight loss, Anorexia, Abnormality of the tongue, Glossitis, ... ORPHA:37
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... ORPHA:100924
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Xerostomia, Cachexia, Anorexia, Glossitis, Hamartomatous polyposis OMIM:175500
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:79230
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... OMIM:231100
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... OMIM:620107
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Open mouth, Thin upper lip vermilion, Camptodactyly, High palate, Glossoptosis, Pierre-Robin sequ... OMIM:613604
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Opsismodysplasia
Hypophosphatemia OMIM:258480
Leishmaniasis
Hypoalbuminemia ORPHA:507
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Wide mouth, Protruding tongue, Tongue thrusting, Dysphagia ORPHA:98795
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Flexion contracture, Tongue atrophy, Skeletal muscle atrophy OMIM:614678
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Seckel Syndrome 2
Microglossia, Small for gestational age, Microdontia OMIM:606744
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Obesity, Protruding tongue, Aggressive behavior, Evert... OMIM:610253
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Distal amyotrophy, Upper limb muscle weakness, Facial palsy, Tongue atrophy OMIM:601596
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:620269
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Moebius Syndrome
Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... ORPHA:570
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Failure to thrive, Protruding tongue, Death in childhood, Alveolar ridge overgrowth,... OMIM:612938
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Camptodactyly of finger, Submucous cleft hard palate, Hypodontia, Glossoptosis ORPHA:3201
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protrud... OMIM:212066
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate... OMIM:258860
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Obesity, F... OMIM:616078
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Raine Syndrome
Hypophosphatemia OMIM:259775
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Death in childhood, Hand muscle atrophy, Dysphagi... OMIM:211530
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis, Facial palsy ORPHA:2483
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Microglossia, Skeletal muscle atrophy, Failure to thrive, Flexion ... OMIM:254940
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Long philtrum, Aplasia/Hypoplasi... ORPHA:1358
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Angelman Syndrome
Widely spaced teeth, Obesity, Protruding tongue, Paroxysmal bursts of laughter, Hyperactivity, Ma... OMIM:105830
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Beta-Thalassemia
Abnormality of iron homeostasis, Irritability ORPHA:848
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... OMIM:219800
Pallister-Hall-Like Syndrome
Median cleft upper lip, Death in infancy, Microglossia, Cleft palate OMIM:241800
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Joubert Syndrome 18
Camptodactyly, Cleft palate, Lobulated tongue OMIM:614815
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Elbow flexion contracture, Furrowed tongue, Open mouth, Narrow mouth, Camp... OMIM:615065
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl... OMIM:616367
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Developmental And Epileptic Encephalopathy 31B
Choking episodes, Gingival overgrowth, Protruding tongue, Failure to thrive OMIM:620352
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Elevated hepatic iron concentration OMIM:206100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Hypoglossia-Hypodactylia
Aglossia, Microglossia, Narrow mouth OMIM:103300
Developmental And Epileptic Encephalopathy 80
Failure to thrive, Long philtrum, Tented upper lip vermilion, Protruding tongue, Death in infancy... OMIM:618580
Angelman Syndrome
Self-injurious behavior, Widely spaced teeth, Obesity, Inappropriate laughter, Recurrent hand fla... ORPHA:72
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Long philtrum, Gingival overgrowth, Protruding tongue, Stereotypical hand wrin... OMIM:619179
Trisomy 8Q
Camptodactyly of finger, Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip ve... ORPHA:1752
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Gm1-Gangliosidosis, Type Ii
Failure to thrive, Gingival overgrowth, Narrow mouth, Protruding tongue, Dysphagia OMIM:230600
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip OMIM:618021
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Ankyloglossia, Bilateral cleft palate, Thin upper lip vermilion, Bilateral cle... OMIM:618874
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Recurrent hand flapping, Protruding tongue, Aggressive behavior, Attention deficit hyperactivity ... OMIM:619580
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Self-mutilation, Decreased... ORPHA:1051
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Tarp Syndrome
Meckel diverticulum, Failure to thrive, Neonatal death, High palate, Glossoptosis, Tongue nodules... OMIM:311900
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Hypodontia, Enamel hypoplasia OMIM:253250
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Skeletal muscle atrophy, Failure to thrive, Anal fissure, Esophageal stricture, An... ORPHA:89842
Gracile Bone Dysplasia
Ankyloglossia, Failure to thrive, Death in infancy OMIM:602361
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft palate ORPHA:2001
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, Facial h... OMIM:618106
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morphology ORPHA:2759
Agnathia-Otocephaly Complex
Aglossia, Microglossia, Narrow mouth, Cleft palate OMIM:202650
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Jejunal atresia, Hypodontia, Hi... ORPHA:989
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response ORPHA:53351
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Congenital Disorder Of Glycosylation, Type Iig
Long philtrum, Failure to thrive in infancy, Narrow mouth, Thin upper lip vermilion, Smooth philt... OMIM:611209
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue, Failure to thrive OMIM:242860
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
X-Linked Agammaglobulinemia
Glossoptosis, Weight loss, Failure to thrive ORPHA:47
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Cleft palate ORPHA:1790
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Kinsship Syndrome
Downturned corners of mouth, Failure to thrive, Thick lower lip vermilion, Widely spaced teeth, A... OMIM:619297
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to... ORPHA:2752
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Failure to thrive, Tented upper lip vermilion, Agenesis of c... ORPHA:364577
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Orofaciodigital Syndrome Ii
Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ... OMIM:252100
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Ring Chromosome 22 Syndrome
Inappropriate behavior, Protruding tongue, Thick vermilion border ORPHA:1446
Lelis Syndrome
Hypodontia, Carious teeth, Furrowed tongue ORPHA:140936
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Open mouth, Protruding ton... ORPHA:258
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Marshall-Smith Syndrome
Gingival overgrowth, Open mouth, Protruding tongue, Failure to thrive ORPHA:561
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Failure to thrive, Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, S... OMIM:277380
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue OMIM:614204
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Failure to thrive, Cleft palate ORPHA:79284
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... ORPHA:193
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Bruxism, Open mouth, Protruding tongue, Stereotypical hand wringing, Smooth philtrum, Everted low... OMIM:617804
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Juvenile Sialidosis Type 2
Gingival overgrowth, Dysphagia, Protruding tongue ORPHA:93399
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Downturned corners of mouth, Failure to thrive, Furrowed tongue, Bruxism, Open mouth... ORPHA:453499
Distal Limb Deficiencies-Micrognathia Syndrome
Microglossia, Narrow mouth, Microdontia, High palate, Cleft palate ORPHA:1307
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Failure to thrive, Long philtrum, Tented upper li... OMIM:608670
Mandibuloacral Dysplasia
Dental crowding, Contractures of the large joints, Abnormal tongue morphology, High palate, Hypop... ORPHA:2457
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Failure to thrive, Hamartoma of tongue, Abnormal oral fren... ORPHA:2754
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Glossitis, Weight loss, Failure to thrive ORPHA:35858
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Ankyloglossia, Polyphagia, Everted lower lip vermilion, Motor stereotypy, Dysphagi... OMIM:615873
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... OMIM:222470
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, Failure to thrive, Hamartoma of tongue, Incomplete cleft of th... OMIM:277170
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Difficulty in t... ORPHA:99956
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Hartnup Disease
Gingivitis, Glossitis ORPHA:2116
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Incomplete cleft of the upper lip, Stillbirth, Bifid... OMIM:616300
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Basel-Vanagaite-Smirin-Yosef Syndrome
Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermilion, High palate, Short phil... OMIM:616449
Orofaciodigital Syndrome I
Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ... OMIM:311200
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Failure to thrive, Obesity, Protruding tongue, Everted lower lip ver... ORPHA:96147
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability OMIM:219090
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Failure to thrive, Chapped lip,... ORPHA:158668
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Furrowed tongue, Contracture of the proximal interphalangeal joint of the 3r... ORPHA:464738
Autosomal Recessive Robinow Syndrome
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Camptodactyly of finger... ORPHA:1507
Pachyonychia Congenita 3
Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip OMIM:615726
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Distal amyotrophy, Facial paralysis, Failu... ORPHA:99949
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Pica, Cleft soft palate, Recurrent... OMIM:620450
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open... ORPHA:1452
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Proximal muscle weakness ... ORPHA:466768
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, High, narrow palate, Downturned corners of mouth, S... OMIM:619950
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Smooth philtrum, Contractures of the large joints, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Polydipsia, Furrowed tongue, Gingival overgrowth, ... ORPHA:769
Giant Cell Arteritis
Glossitis, Weight loss, Anorexia ORPHA:397
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:615108
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Failure to thrive, Protruding tongue, Death in childhood, Macroglossia, High... OMIM:214100
Treacher-Collins Syndrome
Abnormality of the dentition, Failure to thrive, Cleft upper lip, Tooth agenesis, Open bite, Abno... ORPHA:861
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Frequent temper tantrums, Recurrent hand flapping, Protruding tongue, Thin upp... OMIM:617062
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Failure to thrive, Narrow mouth, Protruding tongue, Death in infancy, Sm... OMIM:608779
Au-Kline Syndrome
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Failure to thrive, Open mouth, Oli... OMIM:616580
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Orofacial cleft, Tracheoesopha... ORPHA:958
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:352665
Joubert Syndrome 1
Triangular-shaped open mouth, Protruding tongue, Self-mutilation, Aggressive behavior, Hyperactiv... OMIM:213300
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Camptodactyly of finger, Ankyloglossia, Narrow mouth, Thin upper lip vermili... ORPHA:261330
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... ORPHA:2298
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... ORPHA:870
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Wrist flexion contracture, Glossoptosis, Cleft palate ORPHA:436003
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:615109
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Diastema, Thick lower lip vermilion, Protruding tongue, Motor stereotypy, Thick vermilion border,... OMIM:301040
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu... OMIM:616894
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Protruding tongue OMIM:618797
Stuve-Wiedemann Syndrome 1
Carious teeth, Smooth tongue, Pursed lips, Elbow flexion contracture, Knee flexion contracture, D... OMIM:601559
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant