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Gene: Klf4 MGI:1342287

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Gene Summary

Name:
Kruppel-like transcription factor 4 (gut)
Synonyms:
EZF,  Zie,  Gklf

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased grip strength Klf4em1(IMPC)Kmpc HOM Early adult 2.30×10-15

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Klf4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Klf4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition OMIM:617756
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans, L... ORPHA:166113
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior OMIM:618339
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Oral ulcer, Gingivitis ORPHA:83453
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Hyperkeratosis, Tooth agenesis, Palmoplantar keratoderma, Ichthyosis, Gi... OMIM:615821
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi... ORPHA:79395
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... OMIM:242300
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... ORPHA:64745
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Harlequin Ichthyosis
Dehydration, Hyperkeratosis, Self-injurious behavior, Congenital ichthyosiform erythroderma, Icht... ORPHA:457
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Aquagenic Palmoplantar Keratoderma
Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Bathing Suit Ichthyosis
Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Ichthyosis, Congenital nonbullous ich... ORPHA:100976
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters ORPHA:158681
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Netherton Syndrome
Hypernatremic dehydration, Parakeratosis, Villous atrophy, Recurrent skin infections, Eczema, Ang... OMIM:256500
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue OMIM:155900
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Pustule, Furrowed tongue, Geographic tongue OMIM:614204
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery... OMIM:607602
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Abnormality of the dentition, Pruritus, Atopic dermatitis, Hyperkeratosis ORPHA:90368
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:617571
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Abnormality of the dentition, Pruritus, Oral mucosal blisters, Hyperkerat... ORPHA:79399
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Anonychia With Flexural Pigmentation
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Lamellar Ichthyosis
Abnormality of the dentition, Pruritus, Dehydration, Hyperkeratosis, Ichthyosis, Everted lower li... ORPHA:313
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu... ORPHA:79147
Ulerythema Ophryogenesis
Miscarriage, Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis ORPHA:3406
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Lipoid Proteinosis
Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin, Abnormality of the gingiva, Thick... ORPHA:530
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Gingival overgrowth, Focal friction-related palmoplantar hyperkeratosis... ORPHA:2200
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... ORPHA:182
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans OMIM:618527
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Long philtrum OMIM:615225
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters ORPHA:89838
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Pruritus, Oligodontia, Hypodontia, Ichthyosis, Orthokeratosis, Enamel hypoplasia OMIM:607626
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis ORPHA:454
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... OMIM:620014
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash ORPHA:398124
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod... ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 9
Eclabion, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Eryt... OMIM:615023
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Aggressive behavior OMIM:247100
Keratoderma Hereditarium Mutilans
Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Self-injurious behavior, Ich... ORPHA:494
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration, Long philtrum OMIM:618958
Central Diabetes Insipidus
Polydipsia, Dehydration, Anorexia ORPHA:178029
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Recessive X-Linked Ichthyosis
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:461
Familial Cold Urticaria
Pruritus, Polydipsia, Dehydration ORPHA:47045
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Polyhydramnios, Dehydration OMIM:616069
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous... OMIM:613576
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl... OMIM:602540
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis OMIM:212360
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Solar Urticaria
Edema, Pruritus, Periorbital edema, Angioedema, Abnormal tongue morphology, Abnormal lip morphology ORPHA:97230
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ... ORPHA:90280
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... OMIM:616029
Netherton Syndrome
Skin rash, Eczema, Malabsorption, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform er... ORPHA:634
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Reticular Dysgenesis
Skin rash, Dehydration, Malabsorption ORPHA:33355
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Abnormal oral mucosa morphology ORPHA:254478
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Enteric Anendocrinosis
Dehydration, Malabsorption ORPHA:83620
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Ichthyosis Prematurity Syndrome
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma OMIM:608649
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Hyperkeratosis ORPHA:2584
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... OMIM:615726
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
Hartnup Disorder
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder OMIM:234500
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Dehydration, Death in childhood, Thin vermilion border,... OMIM:214150
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:607936
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:617525
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... OMIM:606545
Pachyonychia Congenita 1
Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Congenital Short Bowel Syndrome
Intestinal malrotation, Dehydration, Steatorrhea, Congenital shortened small intestine, Intestina... OMIM:615237
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology, Ichthyosis ORPHA:171851
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Cleft upper lip, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth... OMIM:308050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Anorexia ORPHA:79312
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Conical tooth OMIM:618625
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... ORPHA:95427
Autosomal Agammaglobulinemia
Recurrent skin infections, Skin rash, Malabsorption, Dehydration, High palate ORPHA:33110
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology, Ichthyosis ORPHA:209981
Lichen Planopilaris
Pruritus, Hyperkeratosis, Abnormal intestine morphology, Neoplasm of the oral cavity ORPHA:525
Flynn-Aird Syndrome
Carious teeth, Hyperkeratosis OMIM:136300
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis OMIM:607903
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Eczema, Cleft palate, Short philtrum, Orthokeratosis, Acne... OMIM:617337
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas ORPHA:79452
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Dehydration, Death in childhood OMIM:560000
Glucose/Galactose Malabsorption
Hypertonic dehydration, Malabsorption OMIM:606824
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior ORPHA:216873
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:613435
Microvillus Inclusion Disease
Pruritus, Villous atrophy, Abnormal small intestinal villus morphology, Dehydration ORPHA:2290
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Dehydration, Malabsorption ORPHA:213
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Attention deficit hyperactivity disorder, Abnormal stomach morphology ORPHA:281090
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Gingivitis, Death in childhood, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma,... OMIM:614457
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Superficial Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Edema, Acantholysis ORPHA:455
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Isovaleric Acidemia
Dehydration OMIM:243500
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Orofacial cleft, Deh... ORPHA:92050
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ichthyosis, Death in infancy, Dehydration, Oligohydramnios OMIM:208085
Proteus Syndrome
Hyperkeratosis, Open mouth OMIM:176920
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Erythrokeratodermia Variabilis
Hyperkeratosis, Skin rash, Patchy palmoplantar hyperkeratosis ORPHA:317
Sjögren-Larsson Syndrome
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis ORPHA:816
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macro... ORPHA:2483
Plummer-Vinson Syndrome
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Na... ORPHA:54028
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,... OMIM:242100
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Hypodontia OMIM:224750
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Conical primary incisor OMIM:602400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Acquired Hypertrichosis Lanuginosa
Thickened skin, Macroglossia, Ichthyosis, Acanthosis nigricans, Glossitis ORPHA:2221
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... ORPHA:83617
Beta-Ketothiolase Deficiency
Anorexia, Edema, Dehydration, Agitation, Oral aversion ORPHA:134
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Cryptorchidism, Rectal atresia, Neonatal death, Anal atresia OMIM:613390
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Propionic Acidemia
Eczema, Dehydration OMIM:606054
Dend Syndrome
Downturned corners of mouth, Dehydration, Long philtrum ORPHA:79134
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Nonimmune hydrops fetalis, Polyhydramnios, Dysphagia, Hyperkeratosis... OMIM:608013
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Eczema, Dysphagia OMIM:612379
Darier-White Disease
Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyperkeratotic fra... OMIM:124200
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Dehydration ORPHA:171876
De Sanctis-Cacchione Syndrome
Parakeratosis OMIM:278800
Monilethrix
Follicular hyperkeratosis, Abnormality of the dentition ORPHA:573
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Seborrheic dermatitis ORPHA:276280
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Lymphedema, Malabsorption, Hypogeusia, Furrowed tongue, Hamartoma... ORPHA:2930
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Thin vermilion border, Death in infancy, Erythroderma OMIM:609180
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis ORPHA:163525
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop... ORPHA:2309
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Total intestinal aganglionosis OMIM:600501
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Esophageal varix, Dehydration, Oligohydramnios OMIM:263200
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypertonic dehydration OMIM:125800
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypertonic dehydration OMIM:304800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Hyperkeratosis, Short philtrum, Death in infancy ORPHA:163966
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, D... ORPHA:2131
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Costello Syndrome
Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the dentition, Thick lower lip ... ORPHA:3071
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Dehydration, Gingivitis, Periodontitis, Compulsive behaviors, Abn... ORPHA:534
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia OMIM:158900
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Noonan Syndrome 8
Hyperkeratosis, Pleural effusion, Eczema, Polyhydramnios OMIM:615355
Lelis Syndrome
Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, Acanthosis nigricans ORPHA:140936
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Abnormality of primary teet... OMIM:257980
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Abnormal... OMIM:613443
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Hyperkeratotic papule, Acne inversa ORPHA:79145
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Follicular hyperkeratosis OMIM:617066
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Cardiofaciocutaneous Syndrome 3
Wide mouth, Hyperkeratosis OMIM:615279
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Renal Hypoplasia
Polydipsia, Dehydration ORPHA:93101
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia OMIM:277720
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal dental morphology, Abnormality of the dentition,... ORPHA:158668
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Furrowed tongue, Hyperkeratosis, Ichthyosis, Microdontia, Or... OMIM:148210
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Self-injur... ORPHA:313892
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Edema, Carious teeth, Hyperkeratosis, Palmoplantar keratoderma... OMIM:604173
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal dental enamel morphology, Pruritus, Cheilitis, Hyperkeratosis, Abnormal lip m... ORPHA:1334
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Skin rash, Pustule, Joint swelling, Hyperkeratosis, Stomatitis OMIM:612852
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Osteootohepatoenteric Syndrome
Pruritus, Villous atrophy, Ileoileal intussusception, Dehydration OMIM:619377
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Hydrops fetalis, Dehydration, Death in childhood, Steat... OMIM:557000
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Familial Renal Glucosuria
Dehydration ORPHA:69076
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Esophageal varix, Hyperkeratosis, Inflammation of the large intestine, Peau d'o... OMIM:614576
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Hyperkeratosis, Thick vermilio... ORPHA:79280
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hyperkeratosis, Inflammatory abnormality of the skin, Death in infancy OMIM:610768
Mednik Syndrome
Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon OMIM:609313
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Cataract-Intellectual Disability-Hypogonadism Syndrome
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition ORPHA:1387
Intussusception
Intussusception OMIM:147710
Mulibrey Nanism
Dental crowding, Dental malocclusion, Hydrops fetalis, Hypodontia, Microglossia, Ascites, Enamel ... OMIM:253250
Wolcott-Rallison Syndrome
Ascites, Dehydration ORPHA:1667
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Eclabion, Generalized hyperkeratosis, Generalized ichthyosis ORPHA:2269
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:308800
Angelman Syndrome Due To A Point Mutation
Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely spaced teeth, I... ORPHA:411511
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Follicular hyperkeratosis ORPHA:486815
Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Eczema, Abnormality of the dentition, Xerostomia, Hyperkeratosis, Too... ORPHA:238468
Ring Chromosome 22 Syndrome
Edema, Protruding tongue, Lymphedema, Inappropriate behavior, Thick vermilion border, Pleural eff... ORPHA:1446
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia ORPHA:223
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Edema, Dehydration ORPHA:20
Shigellosis
Anorexia, Intestinal perforation, Ulcerative colitis, Dehydration, Paralytic ileus, Acute colitis ORPHA:810
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Narrow mouth OMIM:227270
Paternal Uniparental Disomy Of Chromosome 6
Gingival overgrowth, Dehydration, Macroglossia, High palate, Oligohydramnios ORPHA:96191
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Cholera
Miscarriage, Dehydration ORPHA:173
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... OMIM:174300
Oligomeganephronia
Polydipsia, Dehydration ORPHA:2260
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydra... ORPHA:2759
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration, Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Leopard Syndrome 3
Hyperkeratosis, Epidermal hyperkeratosis OMIM:613707
Pyruvate Carboxylase Deficiency
Anorexia, Dehydration, Abnormal temper tantrums, Compulsive behaviors, Recurrent hand flapping ORPHA:3008
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth OMIM:613604
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Eczema, Acne inversa, Furrowed tongue OMIM:301845
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Donohue Syndrome
Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Hyperkeratosis, Acanthosis nigricans OMIM:246200
Hypotrichosis And Recurrent Skin Vesicles
Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Agnathia-Otocephaly Complex
Polyhydramnios, Aglossia, Cleft palate, Narrow mouth, Microglossia OMIM:202650
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Prolidase Deficiency
Pruritus, Carious teeth, Crusting erythematous dermatitis, Hyperkeratosis, Palmoplantar keratoderma ORPHA:742
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Anal atresia, Persistent cloaca OMIM:615709
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis, Lymphedema, Thick vermilion... OMIM:137940
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate, Aggressive behavior OMIM:618356
Hereditary Acrokeratotic Poikiloderma
Eczema, Premature loss of primary teeth, Abnormality of the dentition, Pustule, Open bite, Xerost... ORPHA:2907
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of primary teeth, Ca... ORPHA:2908
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... ORPHA:3241
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palate, Narrow mouth, B... ORPHA:1790
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Malabsorption, Hyperkeratosis, Congenital nonbullous ic... OMIM:601675
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard pala... OMIM:115150
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate, Oligohydramnios ORPHA:2167
Sialidosis Type 1
Hyperkeratosis, Thick lower lip vermilion ORPHA:812
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely ... ORPHA:98794
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Aden... ORPHA:79501
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Intussusception, Acute co... ORPHA:90038
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Infantile Nephropathic Cystinosis
Polydipsia, Dehydration ORPHA:411629
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
Neuroleptic Malignant Syndrome
Agitation, Dehydration, Dysphagia ORPHA:94093
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, Short philtrum, Dysphagia OMIM:615510
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Bone Marrow Failure Syndrome 3
Hyperactivity, Eczema, Oral ulcer, Downturned corners of mouth, Hyperkeratosis, Hypodontia, Micro... OMIM:617052
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis ORPHA:36386
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Pustule, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... OMIM:258860
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Microsporidiosis
Glossitis, Dehydration, Anorexia ORPHA:2552
Pallister-Hall-Like Syndrome
Death in infancy, Microglossia, Median cleft lip, Cleft palate OMIM:241800
Vipoma
Anorexia, Ascites, Dehydration, Malabsorption ORPHA:97282
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Meckel diverticulum, Oli... OMIM:311900
Cowden Syndrome 5
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... OMIM:615108
Lysosomal Acid Lipase Deficiency
Pruritus, Esophageal varix, Dehydration, Steatorrhea, Ascites ORPHA:275761
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Hyperkeratosis... OMIM:601701
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly, Premature loss of permane... OMIM:610644
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia ORPHA:276198
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Abnormality of the dentition ORPHA:1806
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysphagia ORPHA:98795
Pearson Syndrome
Hydrops fetalis, Dehydration, Dysphagia, Corneal stromal edema, Steatorrhea, Median cleft lip and... ORPHA:699
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Gingival overgrowth, Wide mouth, T... OMIM:212066
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Edema, Esopha... ORPHA:79404
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis ORPHA:1005
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... OMIM:616367
Colchicine Poisoning
Dehydration ORPHA:31824
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive behavior, Macroglossia, ... OMIM:610253
Cowden Syndrome 6
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... OMIM:615109
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:614153
Distal Renal Tubular Acidosis
Polydipsia, Dehydration ORPHA:18
Kanzaki Disease
Telangiectasia of the oral mucosa, Lymphedema, Thick lower lip vermilion, Lip telangiectasia, Hyp... OMIM:609242
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Narrow palate, Sel... OMIM:616078
Acute Radiation Syndrome
Hyperkeratosis, Inflammatory abnormality of the skin ORPHA:454831
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Aggressive behavior, Thickened skin, Dental malocclusion, Localized hypoplasia of de... ORPHA:73223
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Follicular hyperkeratosis, Chronic mucocutaneous candidiasis, Furrowed ... OMIM:158310
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hyperactivity, Eczema, Polyhydramnios, Hyperkeratosis, High palate, Attention deficit hyperactivi... OMIM:607721
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Isolated Permanent Neonatal Diabetes Mellitus
Downturned corners of mouth, Dehydration ORPHA:99885
Mandibuloacral Dysplasia
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Acanthosis nigricans ORPHA:2457
Proximal Renal Tubular Acidosis
Polydipsia, Enamel hypomineralization, Dehydration, Malabsorption ORPHA:47159
Juvenile Nephropathic Cystinosis
Polydipsia, Dehydration ORPHA:411634
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Joubert Syndrome 18
Lobulated tongue, Cleft palate OMIM:614815
Hartnup Disease
Glossitis, Skin rash, Gingivitis, Malabsorption ORPHA:2116
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Cowden Syndrome 1
Colonic diverticula, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous p... OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Hyperactivity, Restlessness, Aggressive behavior, Diastema, Furrowed to... OMIM:300534
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... OMIM:612938
Moebius Syndrome
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Ev... ORPHA:570
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thickened skin, Narrow philtrum, Palmoplantar hyperkeratosis, Corneal ... OMIM:601812
Generalized Pustular Psoriasis
Pustule, Cheilitis, Pedal edema, Palmoplantar pustulosis, Erythroderma, Geographic tongue ORPHA:247353
Cardiofaciocutaneous Syndrome
Lymphedema, Submucous cleft hard palate, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Hi... ORPHA:1340
Ullrich Congenital Muscular Dystrophy 1
High palate, Follicular hyperkeratosis OMIM:254090
Gracile Bone Dysplasia
Death in infancy, Ascites, Ankyloglossia OMIM:602361
Reactive Arthritis
Pustule, Joint swelling, Hyperkeratosis, Inflammation of the large intestine, Recurrent aphthous ... ORPHA:29207
Trisomy 8Q
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... ORPHA:1752
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Stereotypical hand wringing, Upper eyelid edema, Everted lower lip vermilion, ... OMIM:617804
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Chime Syndrome
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Hype... ORPHA:3474
Cystinosis, Nephropathic
Polydipsia, Dysphagia, Dehydration, Oral-pharyngeal dysphagia OMIM:219800
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... OMIM:619580
Angelman Syndrome
Hyperactivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Wide mouth, Self-injurio... ORPHA:72
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations, Dysphagia, Death in childhood OMIM:211530
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... ORPHA:1358
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Noonan Syndrome 10
Increased nuchal translucency, Hyperkeratosis, Pleural effusion, High palate OMIM:616564
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Colitis OMIM:301220
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Dehydration, Steatorrhea OMIM:219700
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Polyhydramnios, Narrow mouth ORPHA:990
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... OMIM:252100
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth OMIM:615065
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Glossoptosis, Skin rash, Malabsorption ORPHA:47
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macrog... ORPHA:453499
Marburg Hemorrhagic Fever
Skin rash, Maculopapular exanthema, Anorexia, Aggressive behavior, Dehydration ORPHA:99826
Noonan Syndrome 2
Hyperkeratosis, Increased nuchal translucency, High palate, Polyhydramnios OMIM:605275
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Bifid uvula, Polyhydramnios ORPHA:1427
Werner Syndrome
Hyperkeratosis, Miscarriage, Neoplasm of the oral cavity ORPHA:902
Mycetoma
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis ORPHA:2583
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Polyhydramnios, Hamartoma of tongue, Edema... OMIM:269860
Angelman Syndrome
Hyperactivity, Protruding tongue, Wide mouth, Macroglossia, Widely spaced teeth, Paroxysmal burst... OMIM:105830
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Skin rash, Abnormal dental enamel morpholo... ORPHA:464
Developmental And Epileptic Encephalopathy 80
Death in infancy, Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long ph... OMIM:618580
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, H... ORPHA:989
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... ORPHA:958
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Polyhydramnios, Dehydration OMIM:241200
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... OMIM:611209
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Hereditary Folate Malabsorption
Glossitis, Cheilitis, Anorexia ORPHA:90045
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Gingival fibromatosis, Dehydration ORPHA:652
Fucosidosis
Generalized hyperkeratosis, Abnormality of the dentition ORPHA:349
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Anorexia, Malabsorption, Thickened skin, Hyperkeratosis ORPHA:79430
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... ORPHA:2752
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, E... OMIM:308205
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Acanthosis nigricans, Furrowe... ORPHA:769
Seckel Syndrome 2
Microdontia, Microglossia OMIM:606744
Eec Syndrome
Abnormal dental enamel morphology, Carious teeth, Xerostomia, Orofacial cleft, Cleft palate, Hype... ORPHA:1896
Distal Limb Deficiencies-Micrognathia Syndrome
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia ORPHA:1307
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... OMIM:616449
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob... OMIM:616300
Incontinentia Pigmenti
Delayed eruption of teeth, Maculopapular exanthema, Conical tooth, Hyperkeratosis, Oligodontia, H... OMIM:308300
Orofaciodigital Syndrome I
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... OMIM:311200
Autosomal Recessive Robinow Syndrome
Death in infancy, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentiti... ORPHA:1507
Ramon Syndrome
Delayed eruption of teeth, Hyperkeratosis, Gingival fibromatosis, Narrow palate OMIM:266270
Congenital Sialidosis Type 2
Ascites, Gingival overgrowth, Edema, Protruding tongue ORPHA:93400
Agel Amyloidosis
Tongue atrophy, Edema, Pruritus, Xerostomia, Blepharochalasis ORPHA:85448
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:453504
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Self-mutilation, L... ORPHA:1051
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:352665
Myopathy, Myofibrillar, 7
Tongue atrophy, Dysphagia OMIM:617114
Bartter Syndrome Type 4
Polyhydramnios, Dehydration ORPHA:89938
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Skin rash, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis OMIM:277380
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Kinsship Syndrome
Thin upper lip vermilion, Death in infancy, Abnormal repetitive mannerisms, Thick lower lip vermi... OMIM:619297
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Adenocarcinoma of the colon OMIM:620189
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Cleidocranial Dysplasia
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... ORPHA:1452
Raine Syndrome
Natal tooth, Death in infancy, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ... OMIM:259775
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Stereotypical hand wringing, Protruding tongue OMIM:619179
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration OMIM:601678
Achondrogenesis, Type Ia
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth OMIM:200600
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Acne, Dehydration ORPHA:90794
Developmental And Epileptic Encephalopathy 31B
Choking episodes, Gingival overgrowth, Protruding tongue OMIM:620352
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Skin rash, Glossitis, Cleft palate ORPHA:79284
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Cl... ORPHA:464738
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Polyhydramnios, Protruding tongue, High palate, Attention deficit hyper... OMIM:617062
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... ORPHA:193
Juvenile Sialidosis Type 2
Gingival overgrowth, Dysphagia, Protruding tongue ORPHA:93399
Lymphatic Filariasis
Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema ORPHA:2035
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue, Enamel... ORPHA:79396
Stuve-Wiedemann Syndrome 1
Pursed lips, Death in infancy, Carious teeth, Thin vermilion border, Smooth tongue, Dysphagia, Ol... OMIM:601559
Orofaciodigital Syndrome Type 6
Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor... ORPHA:2754
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Dysphagia, Microglossia OMIM:254940
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft lip, Pierre-Robin sequence... OMIM:117650
Orofaciodigital Syndrome Type 1
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... ORPHA:2750
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Esophageal stricture... ORPHA:89842
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Protruding tongue ORPHA:53351
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... OMIM:277170
Fabry Disease
Anorexia, Malabsorption, Lymphedema, Thick lower lip vermilion, Hyperkeratosis ORPHA:324
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Dysphagia, Narrow mouth OMIM:230600
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... OMIM:615873
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... OMIM:619950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Protruding tongue OMIM:242860
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... OMIM:616894
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Polyhydramnios, Abnormal dental morphol... ORPHA:818
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... OMIM:618874
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... OMIM:301040
Glucagonoma
Intestinal obstruction, Skin rash, Anorexia, Pruritus, Steatorrhea, Stomatitis, Ascites, Glossitis ORPHA:97280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth,... OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl... OMIM:129900
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Cleft palate, Tics, Compulsive b... ORPHA:261330
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... ORPHA:861
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Protruding tongue ORPHA:561
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Joubert Syndrome 1
Hyperactivity, Protruding tongue, Aggressive behavior, Macroglossia, Triangular-shaped open mouth... OMIM:213300
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co... ORPHA:201
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Follicular hyperkeratosis, Polyhydramnios, Cleft soft palate OMIM:614557
Peroxisome Biogenesis Disorder 1A (Zellweger)
Protruding tongue, High, narrow palate, Dysphagia, Macroglossia, High palate, Death in childhood OMIM:214100
Restrictive Dermopathy 1
Natal tooth, Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Stillbirth, N... OMIM:275210
Au-Kline Syndrome
Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Attenti... OMIM:616580
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal dental morphology, Eczema, Hyperkeratosis, Everted lower lip vermilion, Inappropriate la... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal dental morphology, Eczema, Hyperkeratosis, Everted lower lip vermilion, Inappropriate la... ORPHA:363958
Warburg-Cinotti Syndrome
Dental crowding, Gingival overgrowth, Joint swelling, High palate, Follicular hyperkeratosis OMIM:618175
Icf Syndrome
Macroglossia, Malabsorption, Protruding tongue ORPHA:2268
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Macroglossia, Dysphagia, Open mouth, Cerebral edema ORPHA:258
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema OMIM:118650
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Tongue atrophy ORPHA:101085
Robinow Syndrome
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... ORPHA:97360
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Protruding tongue, Thick vermilion border, Narrow mouth, Smooth philtrum OMIM:608779
Distal Deletion 12Q
Late onset atopic dermatitis, Hyperactivity, Median cleft lip, High, narrow palate, Supernumerary... ORPHA:96149
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue ORPHA:96147
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... OMIM:613091
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Recurrent skin infections, Anal fissure, Oral mucosal blisters, Carious t... ORPHA:79408
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Dysphagia, Micro... OMIM:619777
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Giant Cell Arteritis
Glossitis, Anorexia ORPHA:397
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short philtrum, High palate, Tics, Compulsive behaviors, Abnormal repetitive... OMIM:619475
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... OMIM:268310
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Anteriorly placed anus, Glo... OMIM:602535
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... OMIM:180700
Autosomal Dominant Robinow Syndrome
Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... ORPHA:3107
6Q Terminal Deletion Syndrome
Broad philtrum, Hyperkeratosis, Thick vermilion border, High, narrow palate ORPHA:75857
Opitz Gbbb Syndrome
Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Dysphagia, Ectopic anus, High pa... ORPHA:2745
Xeroderma Pigmentosum
Hyperkeratosis, Thickened skin, Abnormality of the dentition ORPHA:910
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Palpebral edema, Protruding tongue, Deep philtrum, Gingival overgrowth, Nar... ORPHA:99843
Otopalatodigital Syndrome Type 2
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia ORPHA:90652
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Leprechaunism
Thickened skin, Rectal prolapse, Megarectum, Hyperkeratosis, Thick vermilion border, Acanthosis n... ORPHA:508
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, High palate, Short philtrum, Protruding tongue OMIM:300963
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... ORPHA:2108
Tarp Syndrome
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... ORPHA:2886
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Mic... OMIM:263520
Blomstrand Lethal Chondrodysplasia
Natal tooth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Long philtrum ORPHA:50945
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Cleft palate ORPHA:2839
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Cleft palate, Death in infancy ORPHA:1393
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,... OMIM:146510
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Hyperkeratosis, Stillbirth, Short philtrum, Death in childhood, Oligohydramnios OMIM:210710
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Attention deficit hyperactivity d... OMIM:616975
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Attention deficit hyperactivity disorder, Long philtrum ORPHA:250989
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Death in infancy, Protruding tongue, High, narrow palate, Anteriorly pl... OMIM:612289
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Cleft palate, Wid... OMIM:249000
Yunis-Varon Syndrome
Polyhydramnios, Premature loss of primary teeth, Abnormality of dental structure, High, narrow pa... ORPHA:3472
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Polyhydramnios, Aggressive behavior, Agenesis of incisor, Wide mouth, S... OMIM:619841
Restrictive Dermopathy
Natal tooth, Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Narrow mouth,... ORPHA:1662
Kawasaki Disease
Glossitis, Skin rash, Cheilitis, Edema ORPHA:2331
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L... ORPHA:444077
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations ORPHA:99949
Plague
Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Enterocolitis, Inflammation of the lar... ORPHA:707
Smith-Lemli-Opitz Syndrome
Death in infancy, Hyperactivity, Aganglionic megacolon, Dental crowding, Eczema, Intestinal malro... OMIM:270400
Meckel Syndrome
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate, Oligohydramnios ORPHA:564
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... OMIM:616145
Distal Deletion 15Q
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Attention d... ORPHA:1596
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Eczema, Cheilitis, Hyperkeratosis, Icht... ORPHA:2273
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Dental crowding, Follicular hyperkeratosis OMIM:225400
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Protruding tongue... ORPHA:2388
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Hypoplastic philtrum, Protru... OMIM:309580
Degcags Syndrome
Jejunal atresia, Polyhydramnios, Protruding tongue, Hiatus hernia, Pyloric stenosis, Oral-pharyng... OMIM:619488
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Atopic dermatitis ORPHA:466768
Stickler Syndrome
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... ORPHA:828
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Polyhydramnios, Carious teeth, Downturned corners of mouth... OMIM:620186
Cousin Syndrome
Microglossia, Alveolar ridge overgrowth, Cleft palate OMIM:260660
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... ORPHA:434179
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... ORPHA:2729
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... OMIM:615948
Kyphoscoliotic Ehlers-Danlos Syndrome
High palate, Follicular hyperkeratosis ORPHA:536545
Viss Syndrome
Chronic gastritis, Duodenitis, Eczema, Polyhydramnios, Intestinal malrotation, Cleft soft palate,... OMIM:619472
Fraser Syndrome
Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial... ORPHA:2052
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis ORPHA:653
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Ankyloglossia, Cleft palate ORPHA:488642
Atypical Werner Syndrome
Hyperkeratosis, Thin vermilion border, Neoplasm of the oral cavity ORPHA:79474
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Enamel hypoplasia OMIM:151050
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Dysphagia, Protruding tongue ORPHA:98889
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue, Oligohydramnios ORPHA:3206
Leprosy
Hyperkeratosis ORPHA:548
Proteus Syndrome
Abnormal dental enamel morphology, Lymphedema, Carious teeth, Thickened skin, Tooth agenesis, Gen... ORPHA:744
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Polyhydramnios, Submucous cleft lip, De... OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Esophageal atresia, Hydrops fetalis, Ectopic anus, Long philtrum, Bifid tongue, ... ORPHA:93271
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... ORPHA:740
Pallister-Hall Syndrome
Natal tooth, Accessory oral frenulum, Cleft lip, Paroxysmal bursts of laughter, Cleft palate, Mic... ORPHA:672
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia OMIM:619525
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... ORPHA:1359
Microphthalmia, Syndromic 6
Microglossia, High palate, Bifid uvula, Cleft palate OMIM:607932

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Klf4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Klf4.

No publications found that use IMPC mice or data for Klf4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Klf4tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Klf4em1(IMPC)Kmpc Deletion Mice

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