Gene Summary

Name:
keratin 5
Synonyms:
3300001P10Rik,  Tfip8,  K5,  Krt2-5

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
abnormal lymph node morphology Krt5tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Krt5tm1.1(KOMP)Vlcg HOM   Early adult 0.00

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
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section 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)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 33.33% (2 of 6)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 33.33% (2 of 6)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 33.33% (2 of 6)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 33.33% (2 of 6)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 33.33% (2 of 6)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 33.33% (2 of 6)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 33.33% (2 of 6)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 33.33% (2 of 6)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 33.33% (2 of 6)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 33.33% (2 of 6)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 33.33% (2 of 6)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 33.33% (2 of 6)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 33.33% (2 of 6)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 33.33% (2 of 6)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 33.33% (2 of 6)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 33.33% (2 of 6)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 33.33% (2 of 6)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

Adult LacZ

LacZ Images Section

86 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

32 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Krt5 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 Krt5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis, Palmoplantar blistering OMIM:131800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Abnormality of the dentition, Palmar hyperkeratosis, Oral mucosal blisters, Plant... ORPHA:79399
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Abnormality of the dentition, Palmar hyperkeratosis, Oral mucosal blisters... ORPHA:79397
Localized Epidermolysis Bullosa Simplex
Palmoplantar blistering, Erosion of oral mucosa, Focal friction-related palmoplantar hyperkeratos... ORPHA:79400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters, Palmoplantar keratoderma ORPHA:79396
Epidermolysis Bullosa Simplex, Autosomal Recessive 1
Oral mucosal blisters OMIM:601001
Epidermolysis Bullosa Simplex, Generalized
Oral mucosal blisters, Palmoplantar hyperkeratosis OMIM:131900
Epidermolysis Bullosa Simplex, Dowling-Meara Type
Oral mucosal blisters, Palmoplantar hyperkeratosis OMIM:131760
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis ORPHA:158681
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Punctate palmoplantar hyperkeratosis OMIM:131960
Dowling-Degos Disease 1
OMIM:179850

The table below shows human diseases predicted to be associated to Krt5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Odontoma-Dysphagia Syndrome
Odontoma, Dysphagia, Abnormal esophagus morphology OMIM:164330
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Short distal phalanx o... OMIM:311895
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Glossoptosis, Ha... ORPHA:3104
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Talipes equinovarus, T... ORPHA:496689
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Kerion Celsi
Lymphadenopathy ORPHA:499
Apolipoprotein A-I Deficiency
Lymphadenopathy, Splenomegaly ORPHA:425
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... ORPHA:70482
Tylosis With Esophageal Cancer
Esophageal carcinoma, Abnormality of the mouth, Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Palmoplantar keratoderma, Dysphagia, Gastroesophageal reflux, Esopha... ORPHA:2198
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Dysphagia, Intra-oral hyperpigmentation, Cheilitis, Geophagia, Esophagea... ORPHA:54028
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Broad palm, Intestinal malrotation, Bilateral cleft lip and palate, Ab... OMIM:601165
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Hypoplasia of the ulna, Sin... OMIM:227270
T-Cell Receptor-Alpha/Beta Deficiency
Lymphadenopathy OMIM:615387
Catel-Manzke Syndrome
Camptodactyly of finger, Cleft palate, Glossoptosis, Oral synechia, Metatarsus valgus, Clinodacty... ORPHA:1388
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulated tongue, ... OMIM:174300
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis OMIM:614876
Epilepsy, Progressive Myoclonic, 9
Microglossia, Short thumb OMIM:616540
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:66661
Lipoid Proteinosis
Tongue nodules, Hyperkeratosis, Dysphagia, Microglossia, Abnormal oral mucosa morphology, Abnorma... ORPHA:530
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Splenomegaly OMIM:608971
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Esophagea... ORPHA:411696
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Abnormal metacarpal morphology, Glossoptosis, Cleft palate ORPHA:166100
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Glossoptosis, Mandibular condyle hypop... OMIM:614669
Hartnup Disorder
Glossitis OMIM:234500
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Tongue nodules, Preaxial ... OMIM:277170
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Narrow mouth, Spontaneous esophageal perforation, Mitten deformity, Dysphagia,... OMIM:226600
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Hamartoma of tongue, Postaxial po... OMIM:258860
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Whistling Face Syndrome, Recessive Form
Long philtrum, Talipes equinovarus, Narrow mouth, Camptodactyly, Microglossia, Ulnar deviation of... OMIM:277720
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Postaxial polysyndactyly of foot, Postaxial hand poly... ORPHA:2919
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue, Ulnar deviation of finger, Brachydactyly, Micromelia ORPHA:2928
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Hypodontia, Short distal phalanx of fi... ORPHA:3201
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle weakness, Dysphagia, Scapular winging, Tongue atrophy OMIM:158900
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Hypoplasia of the ulna, Bilateral singl... ORPHA:1972
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Adactyly, Narrow mouth, Upper limb phocomelia, Finger syndactyly, ... ORPHA:989
Coffin-Siris Syndrome 11
Downturned corners of mouth, Esophageal atresia, Wide mouth, Small hand, Bifid uvula, High palate... OMIM:618779
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Furrowed tongue, Gingival overgrowth, Anorectal anomaly, Tracheoesophageal fistula ORPHA:1839
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly, Lobulated tongue OMIM:617127
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis... ORPHA:157798
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Everted lower lip vermilion, Furrowed tongue, Ulnar deviation ... ORPHA:1387
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Accessory oral frenulum, Postaxial hand polyd... OMIM:252100
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Carious teeth, Pyloric stenosis, Death in infancy OMIM:226700
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Abnormal stomach morphology ORPHA:281090
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Tapered finger, Stomach cancer, Intestinal polyposis... ORPHA:2930
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Moebius Syndrome
Absent hand, Talipes equinovarus, Open mouth, Finger syndactyly, Abnormality of the ulna, Dysphag... ORPHA:570
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis, Palmoplantar blistering OMIM:131800
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Cirrhosis, Familial
Esophageal varix OMIM:215600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Clark-Baraitser syndrome
Genu valgum, Broad palm, Short palm, Maxillary lateral incisor microdontia, Exaggerated median to... OMIM:300602
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Death in infancy, Microglossia, Cleft palate, Median cleft lip, Micro... OMIM:241800
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of t... OMIM:192445
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Retinitis Pigmentosa 89
Postaxial polydactyly, Esophageal varix OMIM:618955
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Pachyonychia Congenita 3
Oral leukoplakia, Chapped lip, Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, F... OMIM:615726
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Rocker bottom foot, Short 5th finger, Bilateral single transverse palmar creases, Pyloric stenosi... OMIM:133705
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Pyloric stenosis, Radial deviation of finger OMIM:188025
Atkin-Flaitz Syndrome
Genu valgum, Broad palm, Short palm, Maxillary lateral incisor microdontia, Exaggerated median to... OMIM:300431
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Acantholysis, Widely spaced toes, Natal tooth, Sandal gap, Neonatal death, Synd... OMIM:609638
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Broad thumb, Intestinal malrotation, Bilateral cleft lip and palate, Bifid tongue, Clinodactyly o... ORPHA:2001
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Dumbbell-shaped long bone, Glossoptosis, Cleft palate, Metaphyseal widen... ORPHA:440354
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Narrow mouth, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1307
Noonan Syndrome 7
Deep palmar crease, Cubitus valgus, Dysphagia, Abnormal esophagus morphology, Thick vermilion bor... OMIM:613706
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Anterior open-bite malocclusion, Gloss... OMIM:602483
Carey-Fineman-Ziter Syndrome
Pierre-Robin sequence, Dysphagia, Gastroesophageal reflux, Pectoralis hypoplasia, Microglossia, G... OMIM:254940
Catel-Manzke Syndrome
Talipes equinovarus, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of the 2nd f... OMIM:616145
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Carious teeth, Mitten deformity, Palmoplantar blistering, Esophage... ORPHA:79409
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Tongue nodules, Bifid tongue, Supernumerary tooth, Postaxial foot pol... OMIM:258850
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Smooth philtrum, Esophageal atresia, Cleft soft palate, Brachydactyly OMIM:614526
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Talipes equinovarus, Diastema, Smooth philtrum, Large hands, Short distal phalanx of finger, Furr... OMIM:300534
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Adams-Oliver Syndrome 6
Foot oligodactyly, Brachydactyly, Syndactyly, Esophageal varix OMIM:616589
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Trisomy 18P
Thin vermilion border, Polyphagia, Narrow mouth, Abnormality of finger, High, narrow palate, Pylo... ORPHA:1715
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Pyloric stenosis, Overlapping toe OMIM:614262
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Carious teeth, Esophageal stenosis, Narrow mouth, Mitten deformity, Dysphagia, Gas... ORPHA:89842
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Ritscher-Schinzel Syndrome 2
Short philtrum, Overlapping toe, Camptodactyly, Short distal phalanx of finger, Protruding tongue... OMIM:300963
Feingold Syndrome
Toe syndactyly, Esophageal atresia, Oral cleft, Deviation of the 2nd finger, Duodenal atresia, Cl... ORPHA:1305
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Hyperextensibility of the finger joints, Cleft palate OMIM:618356
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Preaxial polydactyly, Hamartoma of tongue, Intestinal malrotation, Postaxial polyda... OMIM:613091
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing of fingers, Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropa... OMIM:175500
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Open mouth, Downturned corners of mouth, Aganglionic m... ORPHA:870
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Abnormality of the philtrum, Long palm, Aplasia/Hypoplasia of the tongu... ORPHA:2759
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Short foot, Clinodactyly, Small hand, Cleft palate, Bifid uvula, Hi... ORPHA:96184
X-Linked Non-Syndromic Intellectual Disability
Meckel diverticulum, Long philtrum, Delayed eruption of teeth, Clinodactyly of the 2nd toe, Short... ORPHA:777
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Rhombencephalosynapsis
Narrow mouth, Short phalanx of finger, Finger syndactyly, Polydactyly, Aganglionic megacolon, Eso... ORPHA:59315
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Congenital pyloric atresia, Carious teeth, Abnormal palate morphology ORPHA:2617
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Talipes equinovarus, Clinodactyly of the 5th finger, Pyloric stenosis, Tapered finger OMIM:617219
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Harrod Syndrome
Malrotation of small bowel, Narrow mouth, Aganglionic megacolon, Dental malocclusion, High palate... OMIM:601095
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Talipes equinovarus, Tongue nodules, Postaxial poly... OMIM:311900
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Narrow mouth, Abnormality of the gastrointestin... ORPHA:90291
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Thin upper lip vermilion, High palate, Pyloric stenosis ORPHA:314575
Trisomy 8Q
Deep palmar crease, Camptodactyly of finger, Everted lower lip vermilion, Non-midline cleft lip, ... ORPHA:1752
Arthrogryposis, Distal, Type 5D
Camptodactyly, Adducted thumb, Furrowed tongue, Calcaneovalgus deformity, Cleft palate, Talipes e... OMIM:615065
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Down Syndrome
Macroglossia, Broad palm, Aganglionic megacolon, Single transverse palmar crease, Protruding tong... OMIM:190685
Carey-Fineman-Ziter Syndrome
Long philtrum, Thin vermilion border, Talipes equinovarus, Pierre-Robin sequence, Aplasia/Hypopla... ORPHA:1358
Mcdonough Syndrome
Short philtrum, Radial deviation of finger, Furrowed tongue, Clinodactyly, Dental malocclusion, S... OMIM:248950
Fanconi Anemia, Complementation Group Q
Absent thumb, Esophageal atresia OMIM:615272
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis, Abnormality of the dentition OMIM:616553
Immunodeficiency 64
Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphade... OMIM:618534
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Carious teeth, Abnormal dental enamel morpholog... ORPHA:2908
Developmental And Epileptic Encephalopathy 80
Long philtrum, Talipes equinovarus, Death in infancy, Wide mouth, Smooth philtrum, Tented upper l... OMIM:618580
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Hiatus hernia, Esophagitis, Absent hand, Abnormality of finger, Perineal fistula, E... ORPHA:2538
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Congenital pyloric atresia, Death in infancy, Esophageal atresia OMIM:226730
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Enamel hypoplasia, Hyperkeratosis, Death in infancy, Postaxi... OMIM:614576
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Hypoglossia-Hypodactylia
Adactyly, Narrow mouth, Aglossia, Split hand, Microglossia OMIM:103300
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Splenomegaly, Mediastinal lymphadenopathy, H... OMIM:615559
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Narrow mouth, Abnormality of the gastrointestin... ORPHA:801
Lcat Deficiency
Lymphadenopathy, Splenomegaly ORPHA:650
Holzgreve Syndrome
Hand polydactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the metacarpal bones, Bifid to... ORPHA:2167
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Abnormality of the dentition, Palmar hyperkeratosis, Oral mucosal blisters, Plant... ORPHA:79399
Lelis Syndrome
Carious teeth, Abnormality of the mouth, Hypodontia, Furrowed tongue, Palmoplantar hyperkeratosis ORPHA:140936
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Short philtrum, Broad thumb, Downturned corners of mouth, Overlapping toe,... ORPHA:435638
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Short thumb, High palate, Small thenar eminence, Anal atresia, Cleft l... OMIM:619148
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar keratosis with erythema and scale, Abnormality of the elbow, Esophageal stricture ORPHA:158673
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Hamart... ORPHA:137888
Kindler Syndrome
Oral leukoplakia, Carious teeth, Esophageal stenosis, Anal stenosis, Dysphagia, Periodontitis, Gi... OMIM:173650
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Smooth philtrum, Intestinal pseudo-obstruction, Congenital shortened smal... OMIM:300048
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Cleft palate, Absent thumb, Tracheoesophageal fistula OMIM:614083
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Dysphagia, Gastroes... ORPHA:1018
Benign Schwannoma
Abnormality of fibula morphology, Abnormal parotid gland morphology, Abnormal esophagus morpholog... ORPHA:252164
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Short phalanx of finger, Flared femoral metaphysis, Limb undergrowth, Sand... ORPHA:1427
Angelman Syndrome Due To A Point Mutation
Drooling, Dysphagia, Wide mouth, Abnormal eating behavior, Protruding tongue, Widely spaced teeth ORPHA:411511
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Bilateral cleft lip OMIM:618021
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
9Q21.13 Microdeletion Syndrome
Polydactyly, Abnormal tongue morphology, Gastrointestinal dysmotility, Downturned corners of mouth ORPHA:531151
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of finger, Radioulnar synostosis, Overlapping toe, Metatarsus adductus, Wrist flexion... ORPHA:436003
Agnathia-Otocephaly Complex
Microglossia, Narrow mouth, Aglossia, Cleft palate OMIM:202650
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue, Parakeratosis OMIM:614204
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, 2-3 toe syndactyly, Gastroesophageal reflux, Exaggerated median t... ORPHA:313892
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Long philtrum, Thin vermilion border, Bifid distal phalanx of toe, Limited elbow extension, Broad... OMIM:618419
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Acro-Renal-Mandibular Syndrome
Short philtrum, Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Split hand, Apla... ORPHA:958
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Aplasia/hypoplasia involving bones of the extremities, Delayed ossification of car... ORPHA:93346
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Spinocerebellar Ataxia 36
Dysphagia, Tongue fasciculations, Tongue atrophy OMIM:614153
Non-Syndromic Posterior Hypospadias
Anal atresia, Esophageal atresia, Cleft palate ORPHA:95706
Adams-Oliver Syndrome
Absent hand, Gastrointestinal hemorrhage, Finger syndactyly, Split hand, Esophageal varix, Abnorm... ORPHA:974
Marden-Walker Syndrome
Long philtrum, Talipes equinovarus, Narrow mouth, Zollinger-Ellison syndrome, Radioulnar synostos... OMIM:248700
Cowden Syndrome 5
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis, Palmopl... OMIM:615108
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Dysphagia, Widely spaced teeth, Wide mouth ORPHA:98795
Kleefstra Syndrome 1
Macroglossia, Everted lower lip vermilion, Gastroesophageal reflux, Natal tooth, Persistence of p... OMIM:610253
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Contracture of the proximal interphalangeal joint... OMIM:601559
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Wolman Disease
Steatorrhea, Esophageal varix ORPHA:75233
Autosomal Recessive Robinow Syndrome
Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Broad hallux ... ORPHA:1507
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microdontia, Microglossia OMIM:606744
Myopathy, Centronuclear, X-Linked
High palate, Slender toe, Pyloric stenosis, Arachnodactyly OMIM:310400
Cryptosporidiosis
Dysphagia, Abnormal esophagus morphology, Gastrointestinal obstruction ORPHA:1549
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypodontia, Microglossia, Dental malocclusion, Single transve... OMIM:253250
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Preaxial polydactyly, Esophageal diverti... OMIM:617925
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Protruding tongue, Cleft palate, Bifid uvula, Brachydactyly OMIM:612938
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Glossoptosis, Cl... OMIM:616367
Opitz-Kaveggia Syndrome
Narrow palate, Broad thumb, Dental crowding, Split hand, Camptodactyly, Intestinal malrotation, P... OMIM:305450
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Postaxial hand polydactyly, Narrow palate, Pr... OMIM:101200
Odontoonychodermal Dysplasia
Palmoplantar hyperhidrosis, Agenesis of permanent teeth, Abnormality of primary teeth, Hypodontia... OMIM:257980
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Polydactyly, Radia... OMIM:311200
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Natal tooth, Bowing of the long bones, Wide mouth, Protruding to... OMIM:259775
Orofaciodigital Syndrome Type 6
Hand polydactyly, Midline notch of upper alveolar ridge, Tongue nodules, Central Y-shaped metacar... ORPHA:2754
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Broad thumb, Agenesis of permanent teeth, Downturned corners of mouth, Short phala... OMIM:616894
Cohen Syndrome
Genu valgum, Short philtrum, Cubitus valgus, Open mouth, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:193
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Esophageal varix, Malabsorption, Intes... ORPHA:131
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Hamartoma of tongue, Abnormality of the dentition, Irregular dentitio... ORPHA:2752
Myopathy, Myofibrillar, 7
Talipes equinovarus, Dysphagia, Elbow flexion contracture, Tongue atrophy OMIM:617114
Fg Syndrome Type 1
Long philtrum, Abnormal thumb morphology, Drooling, Open mouth, Dental crowding, Broad toe, Finge... ORPHA:93932
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Esophageal stricture, Palmoplantar hyperkeratosis OMIM:613989
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Genu valg... ORPHA:1452
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Cowden Syndrome 6
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis, Palmopl... OMIM:615109
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Tarsal synostosis, Tongue nodules, Odontogenic neop... ORPHA:2750
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Talipes equinovarus, Dental crowding, Radial deviation of finger, Pr... OMIM:141750
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Spinocerebellar Ataxia Type 36
Dysphagia, Tongue fasciculations, Tongue atrophy ORPHA:276198
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Deep philtrum, Esophageal atresia, Slender finger, Cleft palate, Proxi... OMIM:610536
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Tongue fasciculations, Hand muscle atrophy, Tongue atrophy OMIM:211530
Ulnar-Mammary Syndrome
Absent hand, Camptodactyly of finger, Postaxial hand polydactyly, Abnormality of finger, Abnormal... ORPHA:3138
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Oligodontia, Tarsal synostosis, Narrow mouth, Elbow disloc... ORPHA:90652
Cartilage-Hair Hypoplasia
Limited elbow extension, Aganglionic megacolon, Esophageal atresia, Metaphyseal cupping, Metaphys... OMIM:250250
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Broad thumb, Toe syndactyly, Finger syndactyly, Esophag... ORPHA:87
Hartnup Disease
Gingivitis, Malabsorption, Glossitis ORPHA:2116
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue, Gastroesophageal reflux, Drooling OMIM:614325
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Ring Chromosome 22 Syndrome
Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border ORPHA:1446
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Protruding tongue, Macroglossia, Malabsorption OMIM:242860
Tularemia
Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Lymphadenopathy, Cervica... ORPHA:3392
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Esophageal varix OMIM:263200
Fanconi Anemia, Complementation Group B
Death in infancy, Esophageal atresia, Duodenal atresia, Bilateral radial aplasia, Absent thumb, T... OMIM:300514
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Mental Retardation, Autosomal Dominant 35
Pyloric stenosis, Open mouth OMIM:616355
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Drooling, Dysphagia, Wide mouth, Abnormal eating behavior, Protruding tongue, Widely spaced teeth ORPHA:98794
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Broad thumb, Dental crowding, Triangular mouth, Short digit, Long ph... OMIM:268310
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Everted lower lip vermilion, Diastema, Wide mouth, Abnormality... OMIM:212066
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Short philtrum, Overlapping toe, Finger syndactyly, Everted lower lip vermil... ORPHA:464738
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Icf Syndrome
Protruding tongue, Macroglossia, Malabsorption ORPHA:2268
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Gastric ulcer, Gastric hypertrophy, Metacarpal periosteal thickening, Metata... OMIM:161700
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Reynolds Syndrome
Dysphagia, Xerostomia, Gastroesophageal reflux, Abnormality of the gastric mucosa ORPHA:779
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Narrow palate, Broad thumb, Downturned corners of mouth, Dental crow... OMIM:180700
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Absent pro... ORPHA:2839
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Radioulnar synostosis, Midgut malrotation, Hypoplasia of the ulna, Synd... OMIM:263750
Feingold Syndrome 1
4-5 toe syndactyly, Everted lower lip vermilion, 2-3 toe syndactyly, Esophageal atresia, Thick ve... OMIM:164280
Esophageal Atresia
Gastrointestinal dysmotility, Esophagitis, Morphological abnormality of the gastrointestinal trac... ORPHA:1199
Glycogen Storage Disease Iv
Esophageal varix OMIM:232500
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Septo-Optic Dysplasia Spectrum
Polydipsia, Tracheoesophageal fistula, Esophageal atresia, Cleft palate ORPHA:3157
Feingold Syndrome Type 1
Gastrointestinal atresia, 4-5 toe syndactyly, Toe syndactyly, Short middle phalanx of finger, Sho... ORPHA:391641
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Aplasia of the distal phalanx of the 5th finger, Abnorm... ORPHA:364577
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Gastroesophageal reflux, Radial deviation of finger, Protruding tongue, Clinodactyl... OMIM:301040
Tarp Syndrome
Rocker bottom foot, Abnormal duodenum morphology, Hand polydactyly, Tongue nodules, Pierre-Robin ... ORPHA:2886
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Natal tooth, Preaxial polydactyly, Postaxial polydactyly, Anal atresia, Bifid tongue,... OMIM:616300
Wilson Disease
Dysphagia, Hepatocellular carcinoma, Drooling, Esophageal varix OMIM:277900
Distal Monosomy 12Q
Long philtrum, Overlapping toe, Short middle phalanx of finger, 2-3 toe syndactyly, Esophageal at... ORPHA:96149
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Short toe, Broad palm, Short finger, Natal tooth, Hamartoma of tongu... OMIM:269860
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Open bite, Ankyloglossia, Camptodactyly of finger, Narrow mouth, Finger syndact... ORPHA:2907
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Caroli Disease, Isolated
Esophageal varix OMIM:600643
2Q37 Microdeletion Syndrome
Thin vermilion border, Toe syndactyly, Downturned corners of mouth, Finger syndactyly, Pyloric st... ORPHA:1001
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response ORPHA:53351
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Lysosomal Acid Lipase Deficiency
Esophageal varix, Death in infancy, Steatorrhea OMIM:278000
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Dubin-Johnson Syndrome
Abnormality of the gastric mucosa ORPHA:234
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis, Upper limb amyotrophy OMIM:616924
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Mesoaxial f... OMIM:146510
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Everted lower lip vermilion, Abnormal thumb morphology, Smooth philtrum ORPHA:324410
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Esophageal varix OMIM:616028
Cowden Syndrome 1
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis, Palmopl... OMIM:158350
Coach Syndrome 1
Postaxial hand polydactyly, Wide mouth, Esophageal varix OMIM:216360
Fryns Syndrome
Meckel diverticulum, Long philtrum, Rocker bottom foot, Stillbirth, Camptodactyly, Intestinal mal... OMIM:229850
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal tongue morphology, Carious teeth, Abnormality of dental morphology, Palmopl... ORPHA:158668
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Downturned corners of mouth, Midgut malrotation, C... ORPHA:2409
Distal 22Q11.2 Microdeletion Syndrome
Ankyloglossia, Camptodactyly of finger, Toe syndactyly, Narrow mouth, Short palm, Bowing of the l... ORPHA:261330
Marshall-Smith Syndrome
Protruding tongue, Bowing of the long bones, Open mouth, Gingival overgrowth ORPHA:561
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Acrodermatitis Enteropathica
Abnormality of the tongue, Glossitis, Cheilitis, Furrowed tongue, Malabsorption ORPHA:37
Juvenile Sialidosis Type 2
Protruding tongue, Dysphagia, Gingival overgrowth ORPHA:93399
Dyskeratosis Congenita
Oral leukoplakia, Carious teeth, Esophageal stenosis, Taurodontia, Palmoplantar keratoderma, Peri... ORPHA:1775
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon,... OMIM:156810
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes, Lymphadenopathy ORPHA:911
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft hard palate OMIM:619227
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Narrow palate, Everted lower lip vermilion, Abnormality of the... ORPHA:96169
Cerebrocostomandibular Syndrome
Long philtrum, Anal stenosis, Gastroesophageal reflux, Abnormality of the dentition, Short humeru... OMIM:117650
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Angelman Syndrome
Macroglossia, Drooling, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Macroglossia, Cubitus valgus, Talipes equinovarus, Protruding tongue, Metatar... OMIM:214100
X-Linked Agammaglobulinemia
Malabsorption, Glossoptosis ORPHA:47
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:618935
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Kid Syndrome
Oral leukoplakia, Abnormality of the tongue, Carious teeth, Delayed eruption of teeth, Generalize... ORPHA:477
Maternal Phenylketonuria
Long philtrum, Esophageal atresia, Clinodactyly, Bifid distal phalanx of the thumb, High palate, ... ORPHA:2209
Robinow Syndrome
Dental crowding, Short distal phalanx of finger, Oral cleft, Triangular mouth, Long philtrum, Per... ORPHA:97360
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Nephroblastoma
Lymphadenopathy ORPHA:654
Zellweger Syndrome
Abnormality of the tongue, Pyloric stenosis, Death in infancy, High palate, Malabsorption ORPHA:912
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bones of the extre... ORPHA:94068
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Flexion contracture of finger, Scapular winging, Hand muscle atrophy, Proxi... ORPHA:101085
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Gastrointestinal inflammation, Carious teeth, Narrow mouth, Mitten deformity, Dysp... ORPHA:79408
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Adenomatous colonic polyposi... ORPHA:220460
Classic Homocystinuria
Genu valgum, Gastrointestinal hemorrhage, Dental crowding, Esophageal varix, High palate, Arachno... ORPHA:394
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Preaxial hand polydactyly, Hamartom... OMIM:263520
Cornelia De Lange Syndrome 1
Downturned corners of mouth, High palate, High, narrow palate, Elbow flexion contracture, Long ph... OMIM:122470
Griscelli Syndrome Type 2