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 circulating serum albumin level Dpp9tm1a(EUCOMM)Hmgu HET Early adult 6.57×10-08
increased circulating alkaline phosphatase level Dpp9tm1a(EUCOMM)Hmgu HET Early adult 1.94×10-05
preweaning lethality, complete penetrance Dpp9tm1b(EUCOMM)Hmgu HOM   Early adult 2.39×10-07
increased circulating iron level Dpp9tm1b(EUCOMM)Hmgu HET   Early adult 1.42×10-05
abnormal lens morphology Dpp9tm1b(EUCOMM)Hmgu HET Early adult 8.89×10-05
decreased circulating phosphate level Dpp9tm1a(EUCOMM)Hmgu HET Early adult 1.27×10-06
increased thigmotaxis Dpp9tm1b(EUCOMM)Hmgu HET Early adult 3.51×10-06
abnormal behavior Dpp9tm1b(EUCOMM)Hmgu HET Early adult 4.85×10-06
increased anxiety-related response Dpp9tm1b(EUCOMM)Hmgu HET Early adult 3.61×10-05
abnormal behavior Dpp9tm1a(EUCOMM)Hmgu HET Early adult 6.62×10-16

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  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vesicular gland  Wholemount images heterozygote 50% (1 of 2)
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)
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)
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)
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
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)
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)
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)
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 0.72% (4 of 558)
aorta 0.18% (1 of 552)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cecum 3.17% (11 of 347)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
chest bone Unavailable
colon 9.17% (11 of 120)
cranium
diaphragm 0.0%
epididymis 13.28% (17 of 128)
esophagus 1.57% (6 of 381)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.19% (1 of 540)
hindlimb 0.0%
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.36% (2 of 549)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
stomach pyloric region 0.0%
striatum 0.55% (3 of 547)
sublingual gland 0.0%
submandibular gland 1.59% (2 of 126)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
tongue 4.39% (5 of 114)
trachea 0.55% (3 of 547)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.11% (15 of 365)
vascular system 0.0%
vesicular gland 0.0%
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.

Electrocardiogram (ECG)

Waveform Image

22 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
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
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Melkersson-Rosenthal Syndrome
Facial palsy, Furrowed tongue OMIM:155900
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Pyknoachondrogenesis
Stillbirth OMIM:265880
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Knee flexion cont... ORPHA:496689
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Dysphagia, Scapulohumera... OMIM:158900
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate ORPHA:141152
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration OMIM:246700
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis OMIM:614876
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Catel-Manzke Syndrome
Failure to thrive, Glossoptosis, Camptodactyly of finger, Oral synechia, Cleft palate ORPHA:1388
Plummer-Vinson Syndrome
Narrow mouth, Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Glos... ORPHA:54028
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Hypophosphatemia ORPHA:157215
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibular condyle ap... OMIM:614669
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hartnup Disorder
Glossitis OMIM:234500
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Burning Mouth Syndrome
Tongue pain, Parageusia, Smooth tongue, Abnormality of taste sensation, Burning mouth, Strawberry... ORPHA:353253
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized amyotrophy OMIM:616540
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Short philtrum, High palate, Ankle flexion contracture, Macroglossia, Limb joint contracture, Kne... ORPHA:280384
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum OMIM:618732
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Neonatal death, Microglossia, Small for gestational age OMIM:227270
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Lipoid Proteinosis
Tongue nodules, High palate, Abnormal oral mucosa morphology, Thick lower lip vermilion, Abnormal... ORPHA:530
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Myopathy, Myofibrillar, 7
Tongue atrophy, Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflex... OMIM:617114
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Macroglossia
Macroglossia OMIM:153630
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Elbow flexion contracture, Knee flexion contracture, Mi... OMIM:277720
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Flexion contracture, Skeletal muscle atrophy, Microglossia, Failure to thr... OMIM:254940
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue, Truncal obesity ORPHA:2928
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Furrowed tongue ORPHA:2743
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Reduced muscle fiber alpha dystrog... ORPHA:370968
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Dental crowding, Anterior open-bite malocclusion, Glossoptosi... OMIM:602483
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Angelman Syndrome Due To A Point Mutation
Drooling, Obesity, Widely spaced teeth, Dysphagia, Protruding tongue, Abnormal eating behavior, W... ORPHA:411511
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Failure to thrive, Glossoptosis, Cleft palate OMIM:618356
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Cleft upper lip, Failure to thrive, Cleft p... OMIM:277170
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Acquired Hypertrichosis Lanuginosa
Weight loss, Glossitis, Macroglossia ORPHA:2221
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology ORPHA:97230
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Maxillary lateral incisor m... OMIM:300602
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Upper limb muscle weakness, Tongue fasciculations, Distal amyotrophy, Facial palsy OMIM:601596
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Opsismodysplasia
Hypophosphatemia OMIM:258480
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Dysphagia, Skeletal muscle atrophy OMIM:614153
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Everted lower lip vermilion, Furrowed tongue, Tooth malposition ORPHA:1387
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Seckel Syndrome 2
Microglossia, Microdontia, Small for gestational age OMIM:606744
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Dent Disease 1
Hypophosphatemia OMIM:300009
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Maxillary lateral incisor m... OMIM:300431
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Microglossia OMIM:612776
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Pallister-Hall-Like Syndrome
Microglossia, Death in infancy, Cleft palate, Median cleft lip OMIM:241800
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations, Flexion contracture, Skeletal muscle atrophy OMIM:614678
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia ORPHA:411629
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Cronkhite-Canada Syndrome
Colon cancer, Hamartomatous polyposis, Furrowed tongue, Malabsorption, Cachexia, Stomach cancer, ... ORPHA:2930
Leishmaniasis
Hypoalbuminemia ORPHA:507
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Skeletal muscle atrophy, Open mouth, Everted lower... ORPHA:570
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Dysphagia, Skeletal muscle atrophy ORPHA:276198
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Drooling, Obesity, Widely spaced teeth, Dysphagia, Protruding tongue, Abnormal eating behavior, W... ORPHA:98794
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Hamartoma of tongue, Microglossia, Dental crowding, Glossoptosis, Mand... ORPHA:137888
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Widely spaced teeth, Dysphagia, Wide mouth ORPHA:98795
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Microdontia, Supernumerary tooth, Bifid tongue OMIM:258850
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Obesity, Macroglossia, Failure to thrive, Protruding tongue, Cleft palate OMIM:612938
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Camptodactyly of finger ORPHA:3201
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Cataract, Elevated transferrin saturation OMIM:606069
Raine Syndrome
Hypophosphatemia OMIM:259775
Melkersson-Rosenthal Syndrome
Cheilitis, Furrowed tongue, Facial palsy, Macroglossia ORPHA:2483
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Hand muscle atrophy, Tongue fasciculations, Dysphagia, Facial palsy OMIM:211530
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin sequence, Long philtrum, Skeletal mus... ORPHA:1358
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Lobulated tongue, Hamartoma of tongue, Clef... OMIM:258860
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Tented upper lip vermilion, Failure to thrive, Smooth philtrum, Death... OMIM:618580
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia ORPHA:1667
Down Syndrome
Narrow mouth, Open mouth, Microdontia, Aganglionic megacolon, Thick lower lip vermilion, Anal atr... ORPHA:870
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Decreased body weight, Flexion contracture, Facial hypotonia, Furrowed tongue, Failu... OMIM:300534
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:848
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Mandibulofacial Dysostosis With Alopecia
Everted lower lip vermilion, Delayed eruption of primary teeth, Dental crowding, Glossoptosis, Cl... OMIM:616367
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Protruding tongue, Malabsorption, Macroglossia OMIM:242860
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Orofaciodigital Syndrome V
High palate, Bifid uvula, Lobulated tongue, Hypodontia, Aganglionic megacolon, Hamartoma of tongu... OMIM:174300
Mcdonough Syndrome
Short philtrum, Furrowed tongue, Diastasis recti, Dental malocclusion OMIM:248950
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the mouth, Abnormality of the philtrum, Abnormal... ORPHA:2759
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Acrodermatitis Enteropathica
Abnormality of the tongue, Cheilitis, Furrowed tongue, Failure to thrive, Malabsorption, Weight l... ORPHA:37
Hereditary Folate Malabsorption
Cheilitis, Failure to thrive, Glossitis, Skeletal muscle atrophy ORPHA:90045
Trisomy 8Q
High palate, Camptodactyly of finger, Non-midline cleft lip, Everted lower lip vermilion, Oral cl... ORPHA:1752
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response ORPHA:53351
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Open mouth, Everted lower lip vermilion, Failure to thrive, Abnormality of the denti... OMIM:212066
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Flexion contracture, Myositis, Congenital muscular dystrophy, Absent muscl... ORPHA:258
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Hypophosphatemia OMIM:219800
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Proximal muscle weakness in upper limbs, Hand muscle atrophy, Foot dorsiflexor we... ORPHA:101085
Hypoglossia-Hypodactylia
Narrow mouth, Microglossia, Aglossia OMIM:103300
Arthrogryposis, Distal, Type 5D
Elbow flexion contracture, Decreased muscle mass, Furrowed tongue, Arthrogryposis multiplex conge... OMIM:615065
Catel-Manzke Syndrome
High palate, Cleft upper lip, Glossoptosis, Camptodactyly, Cleft palate OMIM:616145
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Mulibrey Nanism
Enamel hypoplasia, Hypodontia, Microglossia, Dental crowding, Dental malocclusion OMIM:253250
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hamartomatous polyposis, Malabsorption, Protein-losing enteropathy, Cachexia, Xerostomia, Glossitis OMIM:175500
Angelman Syndrome
Drooling, Widely spaced teeth, Obesity, Macroglossia, Protruding tongue, Wide mouth OMIM:105830
Kleefstra Syndrome 1
Everted lower lip vermilion, U-Shaped upper lip vermilion, Obesity, Macroglossia, Natal tooth, Pr... OMIM:610253
Tarp Syndrome
Tongue nodules, High palate, Failure to thrive, Glossoptosis, Cleft palate OMIM:311900
Marshall-Smith Syndrome
Open mouth, Protruding tongue, Gingival overgrowth, Failure to thrive ORPHA:561
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Unconjugated hyperbilirubinemia, Increased serum ir... ORPHA:766
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Hypophosphatemia ORPHA:534
X-Linked Agammaglobulinemia
Weight loss, Failure to thrive, Glossoptosis, Malabsorption ORPHA:47
Lelis Syndrome
Carious teeth, Hypodontia, Abnormality of the mouth, Furrowed tongue ORPHA:140936
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Failure to thrive, Thin upper lip vermilion, Stomatitis, Glossitis OMIM:277380
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft lip and palate, Bifid tongue ORPHA:2001
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microglossia ORPHA:1972
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Failure to thrive, Bilateral cleft lip and palate, Thin upper lip... OMIM:618874
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Long philtrum, Obesity, Macroglossia, Dental crowding, Protruding tongue OMIM:141750
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Lobulated tongue, Agenesis of central incis... OMIM:252100
Juvenile Sialidosis Type 2
Protruding tongue, Dysphagia, Gingival overgrowth ORPHA:93399
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Pierre-Robin sequence, Oligodontia, Agenesis of central incisor, Everted lower lip vermilion, Ten... ORPHA:364577
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Drooling, Wide mouth OMIM:614325
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Decreased body weight, Flexion contracture, Skeletal muscle atrophy, Carious teeth,... ORPHA:89842
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Protruding tongue, Long philtrum, Gingival overgrowth OMIM:619179
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue OMIM:614204
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Narrow mouth, Hypodontia, Anal atresia, Jejunal at... ORPHA:989
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Orofaciodigital Syndrome Type 3
Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular dentition, Abnormality of the denti... ORPHA:2752
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Bifid uvula, Death in infancy, Cleft palate ORPHA:1790
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Narrow palate, Dental crowding ORPHA:313892
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue ORPHA:2167
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Microdontia, Microglossia, Cleft palate ORPHA:1307
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth ORPHA:531151
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Ritscher-Schinzel Syndrome 2
Camptodactyly, Short philtrum, Protruding tongue OMIM:300963
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Stomatitis, Cleft palate, Glossitis ORPHA:79284
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Hartnup Disease
Gingivitis, Malabsorption, Glossitis ORPHA:2116
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Pierre-Robin sequence, High palate, Submucous cleft soft palate... OMIM:608670
Agnathia-Otocephaly Complex
Narrow mouth, Microglossia, Cleft palate, Aglossia OMIM:202650
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss, Angular cheilitis, Glossitis ORPHA:35858
Kleefstra Syndrome Due To 9Q34 Microdeletion
Obesity, Everted lower lip vermilion, Macroglossia, Failure to thrive, Protruding tongue, Downtur... ORPHA:96147
Abetalipoproteinemia
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypoalbuminemia... ORPHA:14
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Contractures of the large joints, Hypoplasia of teeth, D... ORPHA:2457
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Short philtrum, Failure to thrive in infancy, Macrodontia, Open... ORPHA:193
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Ramos-Arroyo Syndrome
Narrow mouth, Decreased body weight, Smooth tongue, Long philtrum, Carious teeth, Aganglionic meg... ORPHA:1051
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Lobulated tongue, Midline notch of upper alveolar ridge, Hamartoma o... ORPHA:2754
Angelman Syndrome
Drooling, Obesity, Widely spaced teeth, Dysphagia, Polyphagia, Protruding tongue, Wide mouth ORPHA:72
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Everted lower lip vermilion, Smooth philtrum, Contractures of the large joints ORPHA:324410
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Icf Syndrome
Protruding tongue, Malabsorption, Macroglossia ORPHA:2268
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Foot dorsiflexor weakness, Drooling, Distal amyotrophy, Failure to thrive, Tongue... ORPHA:99949
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, High, narrow palate, Macroglossia, Death in childhood, Failure to thrive, Dysphagia,... OMIM:214100
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Orofaciodigital Syndrome I
Tongue nodules, High palate, Agenesis of permanent teeth, Cleft upper lip, Enamel hypoplasia, Lob... OMIM:311200
Down Syndrome
Aganglionic megacolon, Anal atresia, Macroglossia, Duodenal stenosis, Protruding tongue OMIM:190685
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Skeletal muscle atrophy, Failure to thrive, Smooth philtrum, Protruding tongue, Thi... OMIM:608779
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Symptomatic Form Of Hemochromatosis Type 1
Apathy, Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormalit... ORPHA:465508
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Proximal mus... ORPHA:99956
Stuve-Wiedemann Syndrome 1
Contracture of the proximal interphalangeal joint of the 5th finger, Smooth tongue, Knee flexion ... OMIM:601559
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Pachyonychia Congenita 3
Oral leukoplakia, Chapped lip, Furrowed tongue, Gingivitis OMIM:615726
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Gingival overgrowth, Wide mouth OMIM:618797
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Foot dorsiflexor ... ORPHA:466768
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Hypoalbuminemia, Reduced circulating transferrin concentration, Decreased pr... ORPHA:90363
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormal tongue morphology, Carious teeth, Abnormality of dental morphology, Cheilitis, Failure t... ORPHA:158668
Rabson-Mendenhall Syndrome
High palate, Macroglossia, Furrowed tongue, Dental crowding, Polydipsia, Abnormality of the denti... ORPHA:769
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Cowden Syndrome 5
Narrow mouth, High palate, Colonic diverticula, Hamartomatous polyposis, Furrowed tongue OMIM:615108
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Hypoalbuminemia, Abnormal circulat... ORPHA:2298
Treacher-Collins Syndrome
Narrow mouth, High palate, Rectovaginal fistula, Cleft upper lip, Open bite, Tracheoesophageal fi... ORPHA:861
Autosomal Recessive Robinow Syndrome
Short philtrum, Ectopic anus, Abnormal palate morphology, Long philtrum, Open bite, Camptodactyly... ORPHA:1507
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia OMIM:602361
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Cleidocranial Dysplasia
Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary tooth, High, narrow palate, Ab... ORPHA:1452
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Leukocyte Adhesion Deficiency Type Ii
Small for gestational age, Deep philtrum, Failure to thrive, Lower limb hypertonia, Severe period... ORPHA:99843
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Kinsship Syndrome
Short philtrum, Widely spaced teeth, Thick lower lip vermilion, Failure to thrive, Smooth philtru... OMIM:619297
Cowden Syndrome 6
Narrow mouth, High palate, Colonic diverticula, Hamartomatous polyposis, Furrowed tongue OMIM:615109
Bilateral Perisylvian Polymicrogyria
Distal arthrogryposis, Flexion contracture, Drooling, Abnormality of masticatory muscle, Limb hyp... ORPHA:98889
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Bifid uvula, Open mouth, Oligodontia, Macroglossia, Furrowed tongue, Failure to thri... ORPHA:453499
Chand Syndrome
Agenesis of permanent teeth, Commissural lip pit, Agenesis of maxillary incisor, Abnormal oral fr... ORPHA:1401
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Agenesis of permanent teeth, Long philtrum, Cleft lip, Anteriorly placed anu... OMIM:616894
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Short philtrum, Tracheoesophageal fistula, Congeni... ORPHA:958
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Contractures-Developmental Delay-Pierre Robin Syndrome
Wrist flexion contracture, Glossoptosis, Cleft palate, High, narrow palate ORPHA:436003
Otopalatodigital Syndrome Type 2
Narrow mouth, Pierre-Robin sequence, Camptodactyly of finger, Oligodontia, Failure to thrive, Glo... ORPHA:90652
Orofaciodigital Syndrome Type 1
Accessory oral frenulum, High palate, Broad alveolar ridges, Tongue nodules, Open bite, Lobulated... ORPHA:2750
Odontoonychodermal Dysplasia
Hypodontia, Agenesis of permanent teeth, Smooth tongue, Abnormality of primary teeth OMIM:257980
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Robinow Syndrome
Broad alveolar ridges, Long philtrum, Small for gestational age, Hypodontia, Dental crowding, Mar... ORPHA:97360
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Microglossia ORPHA:990
Autosomal Dominant Cerebellar Ataxia
Tongue atrophy, Skeletal muscle atrophy, Tongue fasciculations, Torticollis, Pseudobulbar paralysis ORPHA:99
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Anal atresia, Cleft lip, Natal tooth, Cleft palate, Bifid tongue OMIM:616300
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Thick lower lip vermilion, Macroglossia, Widely-spaced maxillary ce... OMIM:301040
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bifid uvula, Open bite, Abnormality of primary teeth, Open mout... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bifid uvula, Open bite, Abnormality of primary teeth, Open mout... ORPHA:352665
Hereditary Acrokeratotic Poikiloderma
Narrow mouth, Premature loss of primary teeth, Oral leukoplakia, Camptodactyly of finger, Open bi... ORPHA:2907
Tarp Syndrome
Pierre-Robin sequence, Tongue nodules, Abnormal duodenum morphology, Failure to thrive, Glossopto... ORPHA:2886
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupid's bow,... ORPHA:464738
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevated circulating... ORPHA:99826
Cowden Syndrome 1
Narrow mouth, High palate, Colonic diverticula, Hamartomatous polyposis, Furrowed tongue OMIM:158350
Marshall-Smith Syndrome
High palate, Short philtrum, Decreased body weight, Drooling, Microdontia, Death in childhood, Ec... OMIM:602535
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Intestinal malrotation, Anal atresia, Hamartoma of tongue, Cleft palate, Bifid t... OMIM:613091
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Lobulated tongue, Hamartoma of tongue, Natal tooth, Median cleft lip and ... OMIM:269860
Giant Cell Arteritis
Weight loss, Impaired mastication, Glossitis ORPHA:397
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Limb hypertonia, Drooling OMIM:619580
Congenital Sialidosis Type 2
Protruding tongue, Gingival overgrowth ORPHA:93400
Cerebrocostomandibular Syndrome
Death in infancy, Short hard palate, Glossoptosis, Cleft palate ORPHA:1393
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Furrowed tongue, Elbow flexion contracture, Knee flexion contracture OMIM:148210
Frontorhiny
Camptodactyly of finger, Cleft palate, Bifid tongue ORPHA:391474
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Bifid tongue, Macroglossia, Delayed eruption of permanent teeth, Dental crowding, ... OMIM:268310
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Opitz Gbbb Syndrome
High palate, Ectopic anus, Long philtrum, Hypodontia, Tracheoesophageal fistula, Anal atresia, Cl... ORPHA:2745
Hallermann-Streiff Syndrome
Narrow mouth, Supernumerary tooth, Abnormality of the tongue, High, narrow palate, Natal tooth, G... ORPHA:2108
Fontaine Progeroid Syndrome
Narrow mouth, Hypoplasia of the abdominal wall musculature, Long philtrum, Small for gestational ... OMIM:612289
Robinow Syndrome, Autosomal Dominant 1
High palate, Long philtrum, Delayed eruption of teeth, Bifid tongue, Macroglossia, Short hard pal... OMIM:180700
Stickler Syndrome
Cleft upper lip, Long philtrum, Open bite, Slender build, Skeletal muscle atrophy, Macroglossia, ... ORPHA:828