Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Klf4em1(IMPC)KMPC HOM Early adult 3.97×10-16

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

16 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Tylosis With Esophageal Cancer
Esophageal carcinoma, Diffuse palmoplantar hyperkeratosis, Abnormality of the mouth, Parakeratosis OMIM:148500
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Bazex Syndrome
Lip hyperpigmentation, Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakerat... ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
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
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Olmsted Syndrome 2
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... OMIM:619208
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Parakeratosis, Gingival recession, Ichthyosis, Hyperkeratosis... OMIM:615821
Vulvovaginal Gingival Syndrome
Oral ulcer, Pruritus, Gingivitis, Parakeratosis ORPHA:83453
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... ORPHA:79395
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... OMIM:300918
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak... ORPHA:64745
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Death in infancy, Dehydration, Villous atrophy OMIM:251850
Bathing Suit Ichthyosis
Erythroderma, Eclabion, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythr... ORPHA:100976
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenital nonbull... OMIM:612281
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Parakeratosis, Everted lower lip vermilion, Palmoplantar hyperkeratosis, Congenital... OMIM:242300
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Pruritus, Atopic dermatitis, Parakeratosis ORPHA:90368
Netherton Syndrome
Abnormal intestine morphology, Erythroderma, Villous atrophy, Angioedema, Hypernatremic dehydrati... OMIM:256500
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial edema OMIM:155900
Psoriasis 14, Pustular
Geographic tongue, Psoriasiform dermatitis, Pustule, Furrowed tongue, Parakeratosis OMIM:614204
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal... ORPHA:79147
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Harlequin Ichthyosis
Erythroderma, Eclabion, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythro... ORPHA:457
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Lactase Deficiency, Congenital
Lactose intolerance, Dehydration, Decreased small intestinal mucosa lactase level OMIM:223000
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Anonychia With Flexural Pigmentation
Carious teeth, Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Palmar hyperkeratosis, Hyperkeratosis, Abnormality of the dentition, Plantar hyperkerat... ORPHA:79399
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis ORPHA:158681
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Lamellar Ichthyosis
Erythroderma, Pruritus, Ichthyosis, Everted lower lip vermilion, Hyperkeratosis, Abnormality of t... ORPHA:313
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Palmoplantar keratoderma, Long philtrum, Parakeratosis OMIM:615225
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Oligodontia, Parakeratosis, Enamel hypoplasia, Orthokeratosis, Ichthyosis OMIM:607626
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Chromomycosis
Hyperkeratotic papule, Lymphedema, Abnormal oral cavity morphology, Pruritus, Edema, Hyperparaker... ORPHA:182
Lipoid Proteinosis
Thick lower lip vermilion, Dysphagia, High palate, Pustule, Tongue nodules, Thickened skin, Micro... ORPHA:530
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival overgro... ORPHA:2200
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis OMIM:617571
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Dysphagia, Enamel hypoplasia, Hyperkeratosis OMIM:616029
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Oral mucosal blisters, Hyperkeratosis ORPHA:89838
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Gilbert Syndrome
Dehydration OMIM:143500
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Erythrokeratodermia Variabilis Et Progressiva 4
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Inflammatory Skin And Bowel Disease, Neonatal, 2
Edema, Dehydration, Pustule OMIM:616069
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratosis ORPHA:454
Lymphatic Malformation 4
Lymphedema, Hyperkeratosis OMIM:615907
Pityriasis Rubra Pilaris
Abnormal oral cavity morphology, Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritu... ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis OMIM:133200
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperkeratosis ORPHA:398124
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... ORPHA:2199
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration, Long philtrum OMIM:618958
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:613943
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:311895
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Familial Cold Urticaria
Pruritus, Dehydration, Polydipsia ORPHA:47045
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Eclabion, Hyperkeratosis OMIM:606545
Solar Urticaria
Abnormal lip morphology, Angioedema, Pruritus, Edema, Abnormal tongue morphology, Periorbital edema ORPHA:97230
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Enamel hypoplasia, Thin upper lip vermilion,... OMIM:613576
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... ORPHA:90280
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Cleft palate, Glossoptosis ORPHA:3104
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:212360
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia OMIM:167200
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Netherton Syndrome
Eczema, Acanthosis nigricans, Erythroderma, Malabsorption, Congenital nonbullous ichthyosiform er... ORPHA:634
Reticular Dysgenesis
Malabsorption, Dehydration, Skin rash ORPHA:33355
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis ORPHA:254478
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Acne inversa, Orthokeratosis, Hyperkeratosis, Natal tooth OMIM:617337
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:308050
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Furrowed tongue, Gingivitis, Palmar hyperkeratosis, Hyperk... OMIM:615726
Classic Mycosis Fungoides
Eczema, Pruritus, Edema, Skin rash, Hyperkeratosis ORPHA:2584
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Enteric Anendocrinosis
Dehydration, Malabsorption ORPHA:83620
Keratoderma Hereditarium Mutilans
Cleft palate, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:494
Central Diabetes Insipidus
Dehydration, Polydipsia ORPHA:178029
Familial Renal Glucosuria
Dehydration ORPHA:69076
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Ichthyosis Prematurity Syndrome
Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized ichthyosis OMIM:608649
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis OMIM:602540
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis OMIM:607936
Ramon Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Hyperkeratosis, Ging... ORPHA:3019
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter... ORPHA:90186
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:461
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Polyphagia, Volvulus,... ORPHA:95427
Burning Mouth Syndrome
Strawberry tongue, Parageusia, Tongue pain, Xerostomia, Abnormality of the gingiva, Burning mouth... ORPHA:353253
Mednik Syndrome
Abnormal intestine morphology, Ichthyosis, Hyperkeratosis ORPHA:171851
Autosomal Agammaglobulinemia
High palate, Malabsorption, Recurrent skin infections, Skin rash, Dehydration ORPHA:33110
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythroderma, Ever... OMIM:242100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Dehydration, Ichthyosis OMIM:208085
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Hyperkeratosis OMIM:618625
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Hypercalcemia, Infantile, 1
Thick lower lip vermilion, Dehydration OMIM:143880
Porokeratosis
Pruritus, Hyperkeratosis ORPHA:79358
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis OMIM:614876
Flynn-Aird Syndrome
Carious teeth, Hyperkeratosis OMIM:136300
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Lichen Planopilaris
Pruritus, Abnormal intestine morphology, Neoplasm of the oral cavity, Hyperkeratosis ORPHA:525
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Gingival overgrowth, Furrowed tongue, Palpebral edema, Thick vermilion border, Everted lower lip ... ORPHA:966
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis OMIM:607903
Irida Syndrome
Abnormal intestine morphology, Ichthyosis, Hyperkeratosis ORPHA:209981
Milroy Disease
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema ORPHA:79452
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Acne, Contact dermatitis ORPHA:3406
Microvillus Inclusion Disease
Pruritus, Dehydration, Abnormality of small intestinal villus morphology, Villous atrophy ORPHA:2290
Glucose/Galactose Malabsorption
Hypertonic dehydration, Malabsorption OMIM:606824
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis OMIM:616295
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Cleft palate, Glossoptosis, Short mandibular rami, Narrow mouth, Dent... OMIM:614669
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Tongue atrophy ORPHA:496689
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis ORPHA:38
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration, Esophageal varix OMIM:263200
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... OMIM:615508
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, High palate OMIM:617066
Isovaleric Acidemia
Dehydration OMIM:243500
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Abnorm... ORPHA:92050
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Superficial Epidermolytic Ichthyosis
Edema, Palmoplantar keratoderma, Acantholysis, Ichthyosis ORPHA:455
Proteus Syndrome
Open mouth, Hyperkeratosis OMIM:176920
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Hyperkeratosis ORPHA:1839
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis ORPHA:317
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Ichthyosis, Hyperkeratosis ORPHA:816
Cystinosis
Dehydration, Malabsorption, Polydipsia ORPHA:213
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Catel-Manzke Syndrome
Cleft palate, Oral synechia, Glossoptosis ORPHA:1388
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Microglossia ORPHA:141152
Hartnup Disorder
Glossitis OMIM:234500
Pilodental Dysplasia With Refractive Errors
Conical incisor, Follicular hyperkeratosis, Hypodontia OMIM:262020
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Macroglossia, Cheilitis, Edema, Furrowed tongue, Periorbita... ORPHA:2483
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Eczema, Cleft palate, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:83617
Plummer-Vinson Syndrome
Dysphagia, Geophagia, Cheilitis, Esophageal web, Narrow mouth, Glossitis, Tongue atrophy, Intra-o... ORPHA:54028
Acquired Hypertrichosis Lanuginosa
Acanthosis nigricans, Macroglossia, Thickened skin, Glossitis, Ichthyosis ORPHA:2221
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Gaucher Disease, Perinatal Lethal
Dysphagia, Nonimmune hydrops fetalis, Everted upper lip vermilion, Ascites, Neonatal death, Polyh... OMIM:608013
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Hyperkeratosis ORPHA:79279
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Ichthyosis, Hyperkeratosis OMIM:612379
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Dehydration, Pustule ORPHA:171876
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Monilethrix
Abnormality of the dentition, Follicular hyperkeratosis ORPHA:573
Darier-White Disease
Acantholysis, Pruritus, Subungual hyperkeratotic fragments, Acrokeratosis, Enlargement of parotid... OMIM:124200
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Malabsorption, Skin rash, Generali... ORPHA:92
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Lelis Syndrome
Carious teeth, Hypodontia, Acanthosis nigricans, Furrowed tongue, Abnormality of the mouth, Palmo... ORPHA:140936
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Abnormal stomach morphology, Hyperkeratosis ORPHA:281090
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Anal margin squamous cell carcinoma, Hyperkeratosis ORPHA:79145
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Smooth philtrum, Protruding tongue, Open mouth OMIM:618732
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis OMIM:104100
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration OMIM:560000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Wide mouth, Short philtrum, Hyperkeratosis ORPHA:163966
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Eclabion, Generalized ichthyosis ORPHA:2269
Propionic Acidemia
Eczema, Dehydration OMIM:606054
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Hemifacial Atrophy, Progressive
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion OMIM:141300
Dend Syndrome
Downturned corners of mouth, Dehydration, Long philtrum ORPHA:79134
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Polydipsia OMIM:304800
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Tongue atrophy OMIM:158900
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Costello Syndrome
Thick lower lip vermilion, Acanthosis nigricans, Macroglossia, Abnormal dental enamel morphology,... ORPHA:3071
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... ORPHA:189
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Cleft palate, Glossoptosis, Long philtrum ORPHA:166100
Beta-Ketothiolase Deficiency
Edema, Dehydration, Oral aversion ORPHA:134
Noonan Syndrome 8
Eczema, Pleural effusion, Polyhydramnios, Hyperkeratosis OMIM:615355
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Median cleft lip OMIM:174300
Renal Hypoplasia
Dehydration, Polydipsia ORPHA:93101
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:602400
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Cleft palate, Impaired mastication, Glossoptosis, Anterior open-bite ... OMIM:602483
Chronic Mucocutaneous Candidiasis
Abnormal lip morphology, Cheilitis, Pruritus, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1334
Whistling Face Syndrome, Recessive Form
High palate, Long philtrum, Microglossia, Whistling appearance, Narrow mouth OMIM:277720
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Odontoonychodermal Dysplasia
Hypodontia, Hypergranulosis, Abnormality of primary teeth, Orthokeratosis, Smooth tongue, Plantar... OMIM:257980
Cardiofaciocutaneous Syndrome 3
Wide mouth, Hyperkeratosis OMIM:615279
Pachyonychia Congenita
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Advanced eru... ORPHA:2309
Diarrhea 1, Secretory Chloride, Congenital
Dehydration, Polyhydramnios OMIM:214700
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Chapped lip, Pruritus, Cheilitis, Palmoplantar keratoderma, Abnormality of dental ... ORPHA:158668
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Osteootohepatoenteric Syndrome
Pruritus, Dehydration, Ileoileal intussusception, Villous atrophy OMIM:619377
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Hyperkeratosis OMIM:609180
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Skin rash, Hyperkeratosis, Joint swelling OMIM:612852
Cronkhite-Canada Syndrome
Stomach cancer, Furrowed tongue, Malabsorption, Hypogeusia, Intestinal polyposis, Colon cancer, H... ORPHA:2930
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Death in infancy, Esophageal varix, Peau d'orange, Enamel hy... OMIM:614576
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Thick vermilion border, Lip telangiectasia, Hyperkeratosis, Telangiectasia of the oral mucosa, Ly... ORPHA:79280
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydra... ORPHA:2759
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Narrow mouth OMIM:227270
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Delayed eruption of teeth, Hyperkeratosis OMIM:601812
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Short philtrum, Tooth malposition, Furrowed tongue, Everted lower lip vermilion ORPHA:1387
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Death in infancy, Abnormal dental enamel morphology, Delayed... ORPHA:534
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Mulibrey Nanism
Hypodontia, Ascites, Microglossia, Enamel hypoplasia, Dental malocclusion, Dental crowding, Hydro... OMIM:253250
Intussusception
Intussusception OMIM:147710
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Recurrent bacterial skin infections, Ichthyosis, Oral leukoplakia, Hyperkeratosis OMIM:148210
Alternating Hemiplegia Of Childhood
Dysphagia, Exaggerated cupid's bow, Downturned corners of mouth, Oral-pharyngeal dysphagia, Dehyd... ORPHA:2131
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Follicular hyperkeratosis, Palmoplantar keratoderma, Folliculitis OMIM:308800
Paternal Uniparental Disomy Of Chromosome 6
High palate, Macroglossia, Gingival overgrowth, Oligohydramnios, Dehydration ORPHA:96191
Hypohidrotic Ectodermal Dysplasia
Eczema, Xerostomia, Abnormality of dental morphology, Thick vermilion border, Hyperkeratosis, Abn... ORPHA:238468
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis OMIM:614457
Oligomeganephronia
Dehydration, Polydipsia ORPHA:2260
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Wolcott-Rallison Syndrome
Dehydration, Ascites ORPHA:1667
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Pallister-Hall-Like Syndrome
Death in infancy, Cleft palate, Microglossia, Median cleft lip OMIM:241800
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Stomatitis, Glossitis, Dehydration, Hydrops fetalis ORPHA:79282
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Macroglossia, Protruding tongue OMIM:227250
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, High palate ORPHA:486815
Donohue Syndrome
Thick lower lip vermilion, Acanthosis nigricans, Wide mouth, Gingival overgrowth, Hyperkeratosis OMIM:246200
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
Orofaciodigital Syndrome Vi
High palate, Cleft palate, Cleft upper lip, Tongue nodules, Accessory oral frenulum OMIM:277170
Ring Chromosome 22 Syndrome
Edema, Thick vermilion border, Pleural effusion, Protruding tongue, Lymphedema ORPHA:1446
Carey-Fineman-Ziter Syndrome
Dysphagia, Cleft palate, Pierre-Robin sequence, Microglossia, Glossoptosis OMIM:254940
Leopard Syndrome 3
Epidermal hyperkeratosis, Hyperkeratosis OMIM:613707
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Auriculocondylar Syndrome
Mandibular condyle aplasia, Cleft palate, Dental crowding, Hamartoma of tongue, Microglossia, Bif... ORPHA:137888
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Angular cheilitis OMIM:613102
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Dysphagia, Wide mouth, Drooling, Abnormal eating behavior, Protruding tongue ORPHA:411511
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cleft palate, Glossoptosis OMIM:618356
Neuroleptic Malignant Syndrome
Dysphagia, Dehydration, Excessive salivation, Drooling ORPHA:94093
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short lingual frenulum, Short philtrum, Bifid tongue, Abnormality of ... ORPHA:3241
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polydipsia, Polyhydramnios ORPHA:223
Kindler Epidermolysis Bullosa
Carious teeth, Dysphagia, Inflammation of the large intestine, Colitis, Cheilitis, Abnormality of... ORPHA:2908
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Holzgreve Syndrome
Cleft palate, Bifid tongue, Oligohydramnios, Aplasia/Hypoplasia of the tongue ORPHA:2167
Kanzaki Disease
Thick lower lip vermilion, Lip telangiectasia, Hyperkeratosis, Telangiectasia of the oral mucosa,... OMIM:609242
Shigellosis
Acute colitis, Intestinal perforation, Paralytic ileus, Dehydration, Ulcerative colitis ORPHA:810
Hypomandibular Faciocranial Dysostosis
Cleft palate, Death in infancy, Aplasia/Hypoplasia of the tongue, Bifid uvula, Polyhydramnios, Na... ORPHA:1790
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Gingival bleeding, Open bite, Xerostomia, Ankyloglossia, Gingivitis, Narrow mout... ORPHA:2907
Prolidase Deficiency
Carious teeth, Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Crusting erythematous dermatitis ORPHA:742
Hypoglossia With Situs Inversus
Hypodontia, High palate, Microglossia, Narrow mouth OMIM:612776
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Dehydration ORPHA:20
Clark-Baraitser syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... OMIM:300602
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis, Palpebral edema, Thick vermilion border, Lymphedema OMIM:137940
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Acute colitis, Intestinal perforation, Intussusception, Colonic stenosis, Dehydr... ORPHA:90038
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Popov-Chang syndrome
Thick vermilion border, Long philtrum, Thin upper lip vermilion, Hyperkeratosis OMIM:618428
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine... ORPHA:79501
Sialidosis Type 1
Thick lower lip vermilion, Hyperkeratosis ORPHA:812
Infantile Nephropathic Cystinosis
Dehydration, Polydipsia ORPHA:411629
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... OMIM:300431
Arthrogryposis And Ectodermal Dysplasia
Cleft palate, Oligodontia, Cleft upper lip, Abnormal dental enamel morphology, Hyperkeratosis, Or... OMIM:601701
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue OMIM:258850
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis ORPHA:36386
Cholera
Dehydration ORPHA:173
Alacrima, Achalasia, And Mental Retardation Syndrome
Dysphagia, Hyperkeratosis OMIM:615510
Trichothiodystrophy 1, Photosensitive
Erythroderma, Malabsorption, Intestinal obstruction, Congenital nonbullous ichthyosiform erythrod... OMIM:601675
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Cowden Syndrome 5
High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Hamartomatous polyposis, Palmopl... OMIM:615108
Tetraamelia Syndrome 2
Ankyloglossia, Bilateral cleft lip, Glossoptosis OMIM:618021
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Agnathia-Otocephaly Complex
Narrow mouth, Cleft palate, Microglossia, Aglossia OMIM:202650
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Bone Marrow Failure Syndrome 3
Hypodontia, Eczema, Microdontia, Amelogenesis imperfecta, Enamel hypoplasia, Hyperkeratosis OMIM:617052
Cardiofaciocutaneous Syndrome 1
Atopic dermatitis, High palate, Dental malocclusion, Open bite, Deep philtrum, Polyhydramnios, Ic... OMIM:115150
Orofaciodigital Syndrome Iv
High palate, Cleft palate, Hamartoma of tongue, Tongue nodules, Accessory oral frenulum, Lobulate... OMIM:258860
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Lysosomal Acid Lipase Deficiency
Esophageal varix, Ascites, Pruritus, Steatorrhea, Dehydration ORPHA:275761
Microcolon
Microcolon OMIM:251400
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Submucous cleft hard palate, Glossoptosis ORPHA:3201
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Dysphagia, Protruding tongue, Wide mouth ORPHA:98795
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Sclerodactyly, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Premature loss of permane... OMIM:610644
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip vermilion, Denta... OMIM:616367
Pearson Syndrome
Dysphagia, Corneal stromal edema, Median cleft lip and palate, Steatorrhea, Dehydration, Hydrops ... ORPHA:699
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Aganglionic megacolon, Erythroderma, Follicular hyperkeratosis, Oligohydramnios OMIM:308205
Colchicine Poisoning
Dehydration ORPHA:31824
Down Syndrome
Thick lower lip vermilion, Aganglionic megacolon, Microdontia, Macroglossia, Anal atresia, Narrow... ORPHA:870
Rare Cutaneous Lupus Erythematosus
Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam... ORPHA:535
Severe Generalized Junctional Epidermolysis Bullosa
Pyoderma, Edema, Abnormal oral mucosa morphology, Enamel hypoplasia, Recurrent skin infections, E... ORPHA:79404
Distal Renal Tubular Acidosis
Dehydration, Polydipsia ORPHA:18
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Hyperkeratosis ORPHA:1806
Isolated Permanent Neonatal Diabetes Mellitus
Downturned corners of mouth, Dehydration ORPHA:99885
Cowden Syndrome 6
High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Hamartomatous polyposis, Palmopl... OMIM:615109
Spinocerebellar Ataxia 36
Dysphagia, Tongue atrophy, Tongue fasciculations OMIM:614153
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Ichthyosis, Hyperkeratosis ORPHA:1005
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Kid Syndrome
Neoplasm of the tongue, Psoriasiform dermatitis, Lip fissure, Folliculitis, Recurrent cutaneous a... ORPHA:477
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Dehydration, Malabsorption, Polydipsia ORPHA:47159
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dysphagia, Dehydration, Polydipsia OMIM:219800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Dysphagia, Wide mouth, Drooling, Abnormal eating behavior, Protruding tongue ORPHA:98794
Vipoma
Dehydration, Malabsorption, Ascites ORPHA:97282
Hartnup Disease
Glossitis, Gingivitis, Malabsorption, Skin rash ORPHA:2116
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Cleft palate, Pierre-Robin sequence, Oligodontia, Long upper lip, Mi... ORPHA:364577
Mandibuloacral Dysplasia
High palate, Acanthosis nigricans, Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding ORPHA:2457
Developmental And Epileptic Encephalopathy 80
High palate, Smooth philtrum, Wide mouth, Death in infancy, Long philtrum, Tented upper lip vermi... OMIM:618580
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis ORPHA:79431
Mcdonough Syndrome
Furrowed tongue, Short philtrum, Dental malocclusion OMIM:248950
Juvenile Nephropathic Cystinosis
Dehydration, Polydipsia ORPHA:411634
Cowden Syndrome 1
High palate, Furrowed tongue, Colonic diverticula, Acrokeratosis, Narrow mouth, Hamartomatous pol... OMIM:158350
Moebius Syndrome
Dysphagia, High palate, Cleft palate, Microdontia, Death in infancy, Aplasia/Hypoplasia of the to... ORPHA:570
Reactive Arthritis
Inflammation of the large intestine, Pustule, Hyperkeratosis, Recurrent aphthous stomatitis, Join... ORPHA:29207
Spinocerebellar Ataxia Type 36
Dysphagia, Tongue atrophy, Tongue fasciculations ORPHA:276198
Pyruvate Carboxylase Deficiency
Dehydration ORPHA:3008
Microsporidiosis
Dehydration, Glossitis ORPHA:2552
Trisomy 8Q
High palate, Cleft palate, Bifid tongue, Non-midline cleft lip, Everted lower lip vermilion, Abno... ORPHA:1752
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth, Polyhydramnios ORPHA:990
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Cleft palate, Glossoptosis, Polyhydramnios ORPHA:1427
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Ullrich Congenital Muscular Dystrophy 1
Follicular hyperkeratosis, High palate OMIM:254090
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Noonan Syndrome 10
Increased nuchal translucency, High palate, Pleural effusion, Hyperkeratosis OMIM:616564
Autosomal Dominant Cerebellar Ataxia
Tongue fasciculations, Tongue atrophy, Pseudobulbar paralysis, Hyperkeratosis ORPHA:99
Catel-Manzke Syndrome
Cleft upper lip, High palate, Cleft palate, Glossoptosis OMIM:616145
Mohr Syndrome
Agenesis of central incisor, High palate, Cleft palate, Tongue nodules, Accessory oral frenulum, ... OMIM:252100
Chime Syndrome
Hypodontia, Cleft palate, Microdontia, Short philtrum, Supernumerary tooth, Abnormality of dental... ORPHA:3474
X-Linked Agammaglobulinemia
Malabsorption, Skin rash, Glossoptosis, Recurrent cutaneous abscess formation ORPHA:47
Carey-Fineman-Ziter Syndrome
High palate, Cleft palate, Pierre-Robin sequence, Long philtrum, Aplasia/Hypoplasia of the tongue... ORPHA:1358
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft palate, Smooth philtrum, Pierre-Robin sequence, Oligodontia, Long upper lip, High palate, L... OMIM:608670
Congenital Disorder Of Glycosylation, Type Iia
Diastema, Wide mouth, Gingival overgrowth, Thin vermilion border, Everted lower lip vermilion, Op... OMIM:212066
Raine Syndrome
High palate, Cleft palate, Microdontia, Wide mouth, Neonatal death, Gingival overgrowth, Enamel h... OMIM:259775
Congenital Sialidosis Type 2
Edema, Gingival overgrowth, Ascites, Protruding tongue ORPHA:93400
Cardiofaciocutaneous Syndrome
High palate, Long philtrum, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Submucous cleft... ORPHA:1340
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Noonan Syndrome 2
Increased nuchal translucency, High palate, Polyhydramnios, Hyperkeratosis OMIM:605275
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Stomatitis, Glossitis, Skin rash, Thin upper lip vermilion OMIM:277380
Acrodermatitis Enteropathica
Pustule, Cheilitis, Malabsorption, Furrowed tongue, Abnormality of the tongue, Glossitis ORPHA:37
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Tongue atrophy, Tongue fasciculations OMIM:211530
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Hyperkeratosis OMIM:301220
Mycetoma
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis ORPHA:2583
Cystic Fibrosis
Rectal prolapse, Ileus, Steatorrhea, Meconium ileus, Dehydration OMIM:219700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Malabsorption, Glossitis, Hamartomatous polyposis, Protein-losing enteropathy OMIM:175500
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Cleft palate, Protruding tongue, Bifid uvula OMIM:612938
Bartter Syndrome, Type 2, Antenatal
Dehydration, Polydipsia, Polyhydramnios OMIM:241200
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Cleft palate, Microdontia, Microglossia, Narrow mouth ORPHA:1307
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, Exaggerated median tongue furrow ORPHA:313892
Rabson-Mendenhall Syndrome
High palate, Acanthosis nigricans, Polydipsia, Macroglossia, Gingival overgrowth, Furrowed tongue... ORPHA:769
Acro-Renal-Mandibular Syndrome
High palate, Short philtrum, Aplasia/Hypoplasia of the tongue, Oligohydramnios, Tracheoesophageal... ORPHA:958
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Ascites, Median cleft lip and palate, Edema, Neonatal death, Polyhydramnios,... OMIM:269860
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Eec Syndrome
Carious teeth, Cleft palate, Microdontia, Xerostomia, Abnormal dental enamel morphology, Taurodon... ORPHA:1896
Angelman Syndrome
Widely spaced teeth, Wide mouth, Macroglossia, Drooling, Protruding tongue OMIM:105830
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Eczema, High palate, Polyhydramnios, Ichthyosis, Hyperkeratosis OMIM:607721
Hypoglossia-Hypodactyly Syndrome
Hypodontia, High palate, Cleft palate, Death in infancy, Aplasia/Hypoplasia of the tongue, Jejuna... ORPHA:989
Fucosidosis
Generalized hyperkeratosis, Abnormality of the dentition ORPHA:349
Seckel Syndrome 2
Microglossia, Microdontia OMIM:606744
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Juvenile Sialidosis Type 2
Dysphagia, Gingival overgrowth, Protruding tongue ORPHA:93399
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Bifid uvula, Lobulated tongue, Abnormality of the denti... ORPHA:2752
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Macroglossia, Everted lower lip vermilion, Persistence of primary t... OMIM:610253
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response ORPHA:53351
Agel Amyloidosis
Xerostomia, Pruritus, Edema, Tongue atrophy, Blepharochalasis ORPHA:85448
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Ramon Syndrome
Gingival fibromatosis, Narrow palate, Delayed eruption of teeth, Hyperkeratosis OMIM:266270
Orofaciodigital Syndrome I
Carious teeth, High palate, Cleft palate, Alveolar ridge overgrowth, Tongue nodules, Supernumerar... OMIM:311200
Tarp Syndrome
Tongue nodules, High palate, Cleft palate, Glossoptosis OMIM:311900
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft lip and palate, Bifid tongue, Intestinal malrotation ORPHA:2001
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Glossoptosis ORPHA:440354
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue, Malabsorption OMIM:242860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Cleft palate, Oligodontia, Macroglossia, Furrowed tongue, Bifid uvula, Increased nuc... ORPHA:453499
Myopathy, Myofibrillar, 7
Dysphagia, Tongue atrophy OMIM:617114
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Wide mouth, Drooling OMIM:614325
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Smooth philtrum, Diastema, Furrowed tongue, Thin upper lip vermilion OMIM:300534
Incontinentia Pigmenti
Hypodontia, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormality of dental m... ORPHA:464
Marburg Hemorrhagic Fever
Dehydration, Maculopapular exanthema, Skin rash ORPHA:99826
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Long philtrum, Macroglossia, Protruding tongue, Dental crowding OMIM:141750
Bartter Syndrome, Type 1, Antenatal
Dehydration, Polyhydramnios OMIM:601678
Autosomal Recessive Robinow Syndrome
Abnormal palate morphology, Hypodontia, Death in infancy, Wide mouth, Open bite, Long philtrum, S... ORPHA:1507
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Cleft palate, Skin rash, Stomatitis ORPHA:79284
Multiple Endocrine Neoplasia Type 1
Gingival fibromatosis, Duodenal ulcer, Dehydration, Peptic ulcer ORPHA:652
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Ritscher-Schinzel Syndrome 2
Protruding tongue, Short philtrum OMIM:300963
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Enamel hypoplasia, Recurrent skin infections, Smooth tongue, Oral mucos... ORPHA:79396
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Protruding tongue OMIM:618797
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Cleidocranial Dysplasia
Carious teeth, High, narrow palate, Cleft palate, Open bite, Supernumerary tooth, Abnormal dental... ORPHA:1452
Marshall-Smith Syndrome
Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Protruding tongue OMIM:190685
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Cleft palate, Open bite, Exaggerated median tongue furrow, Macroglossia, Int... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Cleft palate, Open bite, Exaggerated median tongue furrow, Macroglossia, Int... ORPHA:352665
Hypoglossia-Hypodactylia
Narrow mouth, Aglossia, Microglossia OMIM:103300
Angelman Syndrome
Widely spaced teeth, Dysphagia, Wide mouth, Polyphagia, Drooling, Protruding tongue ORPHA:72
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Macroglossia, Impaired mastication, Cerebral edema, Open mouth, Protruding tongue ORPHA:258
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Hyperkeratosis ORPHA:2035
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Orofaciodigital Syndrome Type 1
Odontogenic neoplasm, Hypodontia, Cleft palate, High palate, Hamartoma of tongue, Open bite, Tong... ORPHA:2750
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Agenesis of central incisor, Cleft palate, High palate, Ha... ORPHA:2751
Cohen Syndrome
High, narrow palate, Short philtrum, Aplasia/Hypoplasia of the tongue, Gingival overgrowth, Open ... ORPHA:193
Gracile Bone Dysplasia
Ankyloglossia, Ascites OMIM:602361
Icf Syndrome
Macroglossia, Protruding tongue, Malabsorption ORPHA:2268
Infantile Bartter Syndrome With Sensorineural Deafness
Dehydration, Polyhydramnios ORPHA:89938
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Gingival overgrowth, Long philtrum OMIM:619179
Robinow Syndrome, Autosomal Dominant 3
Cleft palate, Long philtrum, Gingival overgrowth, Bifid tongue, Cleft lip, Downturned corners of ... OMIM:616894
Hermansky-Pudlak Syndrome
Thickened skin, Abnormal dental enamel morphology, Malabsorption, Hyperkeratosis ORPHA:79430
Marshall-Smith Syndrome
Irregular dentition, Eclabion, Short philtrum, Gingival overgrowth, Glossoptosis, Short mandibula... OMIM:602535
Werner Syndrome
Neoplasm of the oral cavity, Hyperkeratosis ORPHA:902
Orofaciodigital Syndrome Type 6
High palate, Cleft palate, Hamartoma of tongue, Tongue nodules, Midline notch of upper alveolar r... ORPHA:2754
Cerebrocostomandibular Syndrome
High palate, Long philtrum, Cleft soft palate, Polyhydramnios, Glossoptosis, Abnormality of the d... OMIM:117650
Stuve-Wiedemann Syndrome 1
Pursed lips, Dysphagia, Smooth tongue, Abnormal dental enamel morphology OMIM:601559
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Follicular hyperkeratosis OMIM:614557
Treacher-Collins Syndrome
Cleft palate, High palate, Wide mouth, Open bite, Rectovaginal fistula, Cleft upper lip, Abnormal... ORPHA:861
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Dysphagia, Ankyloglossia, Recurrent skin infections, Anal fissure, Narrow mouth, E... ORPHA:89842
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Downturned corners of mouth, Protruding tongue, Everted lower lip vermilion ORPHA:96147
Ramos-Arroyo Syndrome
Carious teeth, Aganglionic megacolon, Long philtrum, Xerostomia, Narrow mouth, Smooth tongue ORPHA:1051
Arthrogryposis, Distal, Type 5D
Cleft palate, Furrowed tongue OMIM:615065