Gene Summary

Name:
keratin 14
Synonyms:
Cytokeratin 14,  epidermolysis bullosa simplex, Dowling-Meara, Koebner,  Krt1-14,  Krt-1.14,  K14

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
preweaning lethality, complete penetrance Krt14tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A homozygote 40% (2 of 5)
Brain N/A homozygote 0.0% (0 of 5)
Central nervous system ganglion N/A homozygote 0.0% (0 of 3)
Dorsal root ganglion N/A homozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 5)
Embryo N/A homozygote 100% (5 of 5)
Eye N/A homozygote 20% (1 of 5)
Footplate N/A homozygote 100% (5 of 5)
Forebrain N/A homozygote 0.0% (0 of 5)
Forelimb N/A homozygote 100% (5 of 5)
Fronto-nasal process N/A homozygote 100% (5 of 5)
Handplate N/A homozygote 100% (5 of 5)
Head mesenchyme N/A homozygote 100% (5 of 5)
Head N/A homozygote 100% (5 of 5)
Heart N/A homozygote 0.0% (0 of 5)
Hindbrain N/A homozygote 0.0% (0 of 5)
Hindlimb N/A homozygote 100% (5 of 5)
Liver N/A homozygote 0.0% (0 of 5)
Mandibular process N/A homozygote 100% (5 of 5)
Maxillary process N/A homozygote 100% (5 of 5)
Meckel's cartilage N/A homozygote 100% (3 of 3)
Midbrain N/A homozygote 0.0% (0 of 5)
Nasal septum N/A homozygote 0.0% (0 of 5)
Nose N/A homozygote 100% (5 of 5)
Notochord N/A homozygote 0.0% (0 of 4)
Oral cavity N/A homozygote 100% (5 of 5)
Skeleton N/A homozygote 80% (4 of 5)
Skin N/A homozygote 100% (5 of 5)
Spinal cord N/A homozygote 0.0% (0 of 5)
Tail somite N/A homozygote 60% (3 of 5)
Tail N/A homozygote 60% (3 of 5)
Thoracic vertebral cartilage condensation N/A homozygote 0.0% (0 of 1)
Trunk mesenchyme N/A homozygote 100% (5 of 5)
Vibrissa N/A homozygote 100% (5 of 5)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
trunk mesenchyme 1.67% (1 of 60)
vibrissa 1.35% (1 of 74)

Associated Images

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

Adult LacZ

LacZ Images Section

72 Images

Human diseases caused by Krt14 mutations

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

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

The table below shows human diseases associated to Krt14 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Hypomelanotic macule, Papule, Hypermelanotic macule, Palmar hyperkeratos... ORPHA:79399
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Nevus, Atrophic scars, Aplasia cutis congenita on trunk or limbs, Skin erosion, Milia, Hyperkerat... ORPHA:89838
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Atrophic scars, Palmoplantar hyperkeratosis, Milia OMIM:131760
Localized Epidermolysis Bullosa Simplex
Skin plaque, Erythematous papule, Atrophic scars, Skin erosion, Focal friction-related palmoplant... ORPHA:79400
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Palmoplantar hyperkeratosis, Milia OMIM:131900
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Spotty hypopigmentation, Hypomelanotic macule, Hypermelanotic macule, Palm... ORPHA:79397
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Squamous cell carcinoma of the skin, Recurrent skin infections ORPHA:79396
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Milia, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyp... ORPHA:69087
Naegeli-Franceschetti-Jadassohn Syndrome
Palmoplantar keratoderma OMIM:161000
Dermatopathia Pigmentosa Reticularis
Palmoplantar hyperkeratosis OMIM:125595
Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive
OMIM:601001

The table below shows human diseases predicted to be associated to Krt14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Skin erosion, Hyperkeratosis, Skin vesicle ORPHA:2841
Darier Disease
Plantar pits, Macule, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Acrokeratosis... ORPHA:218
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Keloids, Erythematous papule, Atrophic scars, Skin erosion, Atypical scarr... ORPHA:79410
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Dowling-Degos Disease
Hyperkeratotic papule, Epidermoid cyst, Palmar pits, Penile freckling, Erythematous papule, Digit... ORPHA:79145
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Congenital Panfollicular Nevus
Verrucous papule, Skin nodule, Hyperkeratosis ORPHA:139414
Pruritic Urticarial Papules And Plaques Of Pregnancy
Erythematous plaque, Erythematous papule, Striae distensae, Parakeratosis, Palmoplantar erythema,... ORPHA:64745
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Erythrokeratoderma ''En Cocardes''
Neoplasm of the skin, Neoplasm, Hyperkeratosis ORPHA:315
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis ORPHA:254478
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Pemphigus Foliaceus
Acantholysis, Erythematous plaque, Annular cutaneous lesion, Erythema, Skin erosion, Serpiginous ... ORPHA:79481
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Pachyonychia Congenita 4
Palmoplantar keratoderma, Steatocystoma multiplex, Hyperkeratosis OMIM:615728
Porokeratosis
Pruritus, Squamous cell carcinoma of the skin, Hyperkeratosis ORPHA:79358
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Wells Syndrome
Skin vesicle ORPHA:901
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Iga Pemphigus
Acantholysis, Annular cutaneous lesion, Skin erosion, Skin plaque, Skin vesicle ORPHA:555905
Dermatitis Herpetiformis
Erythema, Macule, Skin vesicle ORPHA:1656
Pyoderma Gangrenosum
Atrophic scars, Papule, Skin ulcer, Skin vesicle ORPHA:48104
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Papule, Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:257
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle OMIM:613102
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Acrokeratosis Verruciformis
Hyperkeratosis OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis OMIM:617571
Acquired Ichthyosis
Multiple myeloma, Pruritus, Palmoplantar keratoderma, Neoplasm, Lymphoma, Sarcoma, Recurrent skin... ORPHA:454
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79503
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Palmoplantar keratoderma, Squamous cell carcinoma of the skin ORPHA:85112
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Neoplasm, Esophageal carcinoma, Parakeratosis OMIM:148500
Dyskeratosis Congenita
Hypopigmented skin patches, Macule, Abnormal morphology of female internal genitalia, Urethral st... ORPHA:1775
Erythrokeratodermia Variabilis Et Progressiva 4
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Hypomelanotic macule, Papule, Hypermelanotic macule, Palmar hyperkeratos... ORPHA:79399
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Recessive Dystrophic Epidermolysis Bullosa Inversa
Corneal erosion, Atrophic scars, Esophageal stricture, Gastrointestinal inflammation, Milia, Uret... ORPHA:79409
Porphyria Variegata
Hepatocellular carcinoma, Skin erosion, Milia, Localized skin lesion, Ileus, Skin vesicle ORPHA:79473
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Corneal scarring, Atrophic scars, Spontaneous esophageal perforation, Esophageal stric... OMIM:226600
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Parakeratosis OMIM:604117
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythematous plaque, Erythema, Palmoplantar keratosis with erythema and scale, Thin skin, Dermal ... ORPHA:158673
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Autosomal Dominant Hyper-Ige Syndrome
Papule, Skin ulcer, Skin vesicle ORPHA:2314
Hennekam-Beemer Syndrome
High palate, Macule, Erythema, Papule, Subcutaneous nodule, Skin vesicle ORPHA:2135
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Nevus, Atrophic scars, Aplasia cutis congenita on trunk or limbs, Skin erosion, Milia, Hyperkerat... ORPHA:89838
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Chronic Graft Versus Host Disease
Keratoconjunctivitis sicca, Abnormal esophagus physiology, Dysphagia, Abnormal vagina morphology,... ORPHA:99921
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Sweet Syndrome
Inflammation of the large intestine, Skin nodule, Erythematous plaque, Pyoderma gangrenosum, Eryt... ORPHA:3243
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin OMIM:181600
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... OMIM:300918
Porokeratosis 1, Multiple Types
Neoplasm of the skin, Parakeratosis OMIM:175800
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Pruritus, Palmoplantar keratoderma, Neoplasm, Parakeratosis, Hy... ORPHA:166113
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Dysphagia, Esophageal furrows, Esophagitis, Abnormal peristalsis, Esophageal... ORPHA:411696
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... ORPHA:2198
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract, Barre... ORPHA:523
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Keratiti... ORPHA:1018
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Furrowed tongue, Corneal dystrophy, Anorectal a... ORPHA:1839
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Atrophic scars, Palmoplantar hyperkeratosis, Milia OMIM:131760
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... OMIM:619208
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar keratoderma, Squamous cell carcinoma, Hyperkeratosis OMIM:602540
Kindler Syndrome
Spotty hypopigmentation, Dysphagia, Corneal erosion, Urethral stenosis, Symblepharon, Phimosis, D... OMIM:173650
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dysphagia, Corneal erosion, Nevus, Aplasia cutis congenita, Skin erosion, Ankyloglossia, Atypical... ORPHA:89842
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Palmoplantar keratoderma, Erythroderma, Hyperkeratosis ORPHA:312
Localized Epidermolysis Bullosa Simplex
Skin plaque, Erythematous papule, Atrophic scars, Skin erosion, Focal friction-related palmoplant... ORPHA:79400
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Palmoplantar hyperkeratosis, Milia OMIM:131900
Familial Keratoacanthoma
Adenoma sebaceum, Papilloma, Neoplasm, Hyperkeratosis ORPHA:493
Pityriasis Rubra Pilaris
Orthokeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:173200
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Narrow palate, Protruding tongue, Recurrent gastroenteritis, Skin vesicle ORPHA:99843
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Familial Multinodular Goiter
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... ORPHA:276399
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, Erythroderma, Parakeratosis OMIM:604777
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Atrophic scars, Aplasia cutis congenita, Esophageal atresia, Milia, A... OMIM:226730
Cirrhosis, Familial
Esophageal varix OMIM:215600
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Neoplasm of the urethra, Abnormality of the anus,... ORPHA:2908
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Pruritus, Atopic dermatitis, Parakeratosis ORPHA:90368
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Cleft palate, Bifid scrotum, Esophageal atresia, Anal atresia, Ur... ORPHA:95706
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Spotty hypopigmentation, Hypomelanotic macule, Hypermelanotic macule, Palm... ORPHA:79397
Peutz-Jeghers Syndrome
Rectal prolapse, Macule, Stomach cancer, Gastrointestinal infarctions, Neoplasm of the rectum, Es... ORPHA:2869
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Sclerocornea, Esophageal atresia, Iris coloboma, Tracheoesophageal fistula, Cryptorc... ORPHA:77298
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys ORPHA:3411
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy, Esophageal obstruction OMIM:150700
Systemic Sclerosis
Digital ulcer, Spotty hypopigmentation, Dysphagia, Abnormality of the small intestine, Abnormal l... ORPHA:90291
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatocellular carcinoma, Esophageal varix, Petechiae OMIM:619463
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Chikungunya
Erythema, Macule, Petechiae, Skin vesicle ORPHA:324625
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:607936
Barrett Esophagus
Barrett esophagus, Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma OMIM:614266
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Noonan Syndrome 7
Dysphagia, Numerous nevi, Impaired oropharyngeal swallow response, Abnormal esophagus morphology OMIM:613706
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Inflammation of the large intestine, Esophageal varix, Hyperkeratosis OMIM:614576
Aspergillosis
Localized skin lesion, Abnormal esophagus morphology, Keratitis ORPHA:1163
Fanconi Anemia, Complementation Group L
Cleft palate, Esophageal atresia, Anal atresia, Micropenis, Tracheoesophageal fistula, Cafe-au-la... OMIM:614083
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Hyperkeratosis OMIM:612281
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Anal atresia, Iris coloboma, Vaginal atresia, Cataract, Cryptorchidism, Microc... ORPHA:3301
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Adams-Oliver Syndrome 6
Esophageal varix, Aplasia cutis congenita of scalp OMIM:616589
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Plummer-Vinson Syndrome
Dysphagia, Esophageal web, Tongue atrophy, Glossitis, Pallor ORPHA:54028
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Rectovaginal fistula, Vesicovaginal fistula, Anal atresia, Vaginal atresia... OMIM:236700
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Duplication Of Urethra
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Anal atresia, Clitoral hypertrophy, Corona... ORPHA:237
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Intestinal atresia, Tracheoesophageal fistula ORPHA:93941
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hyperkeratosis ORPHA:79431
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Methimazole Embryofetopathy
Hypospadias, Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Hypoplasia of penis, Ocular anterior segment dysgenesis, Iris coloboma OMIM:601427
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Anal atresia, Abnormality of the uterus, Tracheoesopha... ORPHA:59315
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Preauricular pit, Duodenal atresia, Preauricular skin tag, Esophageal atresia, Tracheoesophageal ... OMIM:619227
Vacterl/Vater Association
Hypospadias, Tracheal stenosis, Cleft palate, Bifid scrotum, Abnormal morphology of female intern... ORPHA:887
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Pilomatrixoma
Pilomatrixoma OMIM:132600
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Tracheal atresia OMIM:601612
Septo-Optic Dysplasia Spectrum
Cleft palate, Esophageal atresia, Tracheoesophageal fistula, Dry skin, Cryptorchidism, Hypoplasia... ORPHA:3157
Stevens-Johnson Syndrome
Dysphagia, Macule, Corneal erosion, Acantholysis, Erythema, Gastrointestinal hemorrhage, Esophage... ORPHA:36426
Adams-Oliver Syndrome
Esophageal varix, Aplasia cutis congenita, Gastrointestinal hemorrhage, Cataract, Aplasia/Hypopla... ORPHA:974
Mckusick-Kaufman Syndrome
High palate, Cleft palate, Ectopic anus, Aganglionic megacolon, Anal atresia, Urogenital sinus an... ORPHA:2473
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Verrucous papule, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of t... ORPHA:79501
Budd-Chiari Syndrome
Gastrointestinal infarctions, Esophageal varix, Malabsorption, Intestinal obstruction, Gastrointe... ORPHA:131
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Urogenital sinus anomaly, Micropenis, Abnormal sex determination, Female external ge... ORPHA:251510
Adams-Oliver Syndrome 5
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita, Esophageal varix OMIM:616028
Jung Syndrome
Dry skin, Tracheal stenosis ORPHA:2321
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Hypospadias, Chordee, Esophageal ulceration, Cataract, Premature ovarian... OMIM:176690
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Popliteal pterygium, Cleft palate, Intercrural pterygium, Bifid scrotum... OMIM:119500
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Wolman Disease
Steatorrhea, Esophageal varix ORPHA:75233
Fanconi Anemia, Complementation Group B
Duodenal atresia, Esophageal atresia, Hypogonadism, Micropenis, Tracheoesophageal fistula, Hyperg... OMIM:300514
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Currarino Syndrome
Gastrointestinal obstruction, Rectovaginal fistula, Anal atresia, Perianal abscess, Bicornuate ut... OMIM:176450
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Peters anomaly OMIM:614526
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Palmoplantar hyperkeratosis, Urethral stricture OMIM:613989
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Hamartoma of tongue, Neonatal death, Uterus didelphys, Anal atresia, Micropenis, Es... OMIM:617925
Mirage Syndrome
Hypospadias, Petechiae, Decreased testicular size, Achalasia, Esophageal stricture, Hypergonadotr... OMIM:617053
Vacterl With Hydrocephalus
Esophageal atresia, Anal atresia, Abnormal fallopian tube morphology, Tracheoesophageal fistula, ... ORPHA:3412
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis OMIM:615726
Glycogen Storage Disease Iv
Esophageal varix OMIM:232500
Hepatoportal Sclerosis
Hepatocellular carcinoma, Gastrointestinal hemorrhage, Esophageal varix, Gastric varix ORPHA:64743
Chops Syndrome
Tracheal stenosis, Cryptorchidism, Gastroesophageal reflux, Cataract OMIM:616368
Wilson Disease
Dysphagia, Kayser-Fleischer ring, Esophageal varix, Hepatocellular carcinoma OMIM:277900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Redundant neck skin, Abnormality of the uterus, Vaginal atresia, Micropenis, Abnorma... ORPHA:1655
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Bardet-Biedl Syndrome 1
High, narrow palate, Abnormality of the ovary, Aganglionic megacolon, High palate, Hypogonadism, ... OMIM:209900
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Rectovaginal fistula, Esophagitis, Esophageal atresia, Intestinal... ORPHA:2538
Camptobrachydactyly
Septate vagina ORPHA:1319
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology ORPHA:252164
Meacham Syndrome
Abnormal vagina morphology, Hypoplasia of penis, Vaginal atresia, Ambiguous genitalia, Abnormal f... ORPHA:3097
Camptobrachydactyly
Septate vagina OMIM:114150
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Coffin-Siris Syndrome 11
Cleft soft palate, Bifid uvula, High palate, Esophageal atresia OMIM:618779
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Esophageal varix OMIM:263200
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Hypospadias, Aganglionic megacolon, Cleft palate, Bifid scrotum, Gastrointestin... OMIM:270400
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatocellular adenoma, Esophageal varix, Hepatocellular carcinoma ORPHA:370
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Tracheal stenosis, Cleft palate, Redundant neck skin, Anteriorly placed anus, Crypto... OMIM:217980
Apert Syndrome
Ovarian neoplasm, Cleft palate, Ectopic anus, Corneal erosion, Esophageal atresia, Bifid uvula, N... ORPHA:87
Fanconi Anemia, Complementation Group Q
Esophageal atresia OMIM:615272
Trisomy 18
Cleft palate, Abnormal morphology of female internal genitalia, Esophageal atresia, Iris coloboma... ORPHA:3380
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Hurler-Scheie Syndrome
Tracheal stenosis, Corneal opacity OMIM:607015
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Cleft palate, Abnormal morphology of female internal genitalia, Aplasia/Hypopl... ORPHA:1790
Hydrolethalus
Cleft palate, Bifid uvula, Abnormal fallopian tube morphology, Tracheal atresia, Cryptorchidism, ... ORPHA:2189
Fryns Syndrome
Hypospadias, Aganglionic megacolon, Cleft palate, Duodenal atresia, Meckel diverticulum, Bifid sc... OMIM:229850
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Tracheal stenosis, Multiple cafe-au-lait spots, Dry skin, Precocious ... ORPHA:2637
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia OMIM:616553
Apert Syndrome
Pyloric stenosis, Cleft palate, Ectopic anus, Esophageal atresia, Bifid uvula, Narrow palate, Vag... OMIM:101200
Caroli Disease, Isolated
Esophageal varix OMIM:600643
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dysphagia, Corneal erosion, Atrophic scars, Esophageal ulceration, Aplasia cutis congenita, Ankyl... ORPHA:79408
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Blue irides, Absence of Stensen duct, Cleft palate, Rectovaginal fistula, Xerostomia, Hypogonadot... OMIM:129900
Coach Syndrome 1
Esophageal varix OMIM:216360
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatocellular adenoma, Esophageal varix ORPHA:264580
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278720
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Cleft palate, Uterus didelphys, Vaginal atresia, Septate vagina ORPHA:2237
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Lysosomal Acid Lipase Deficiency
Steatorrhea, Esophageal varix OMIM:278000
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis, Esophagitis ORPHA:3348
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Uterus didelphys, Micropenis OMIM:140000
Meacham Syndrome
Neonatal death, Stillbirth, Bicornuate uterus, Septate vagina, Blind vagina, Male pseudohermaphro... OMIM:608978
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix ORPHA:367
Fanconi Anemia, Complementation Group D2
Anemic pallor, Esophageal atresia, Micropenis, Tracheoesophageal fistula, Hypergonadotropic hypog... OMIM:227646
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Urethral atresia, Anal atresia, Absent external genitalia, Aplasia of the ... OMIM:271520
Microphthalmia, Syndromic 3
Hypospadias, Hypogonadotropic hypogonadism, Esophageal atresia, Micropenis, Cryptorchidism OMIM:206900
Mandibulofacial Dysostosis, Guion-Almeida Type
Preauricular skin tag, Cleft palate, Esophageal atresia OMIM:610536
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Trichorhinophalangeal Syndrome, Type Ii
Nevus, Redundant skin in infancy, Hydrometrocolpos OMIM:150230
Keutel Syndrome
Tracheal atresia, Dermal atrophy ORPHA:85202
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Classic Homocystinuria
High palate, Esophageal varix, Ectopia lentis, Gastrointestinal hemorrhage, Cataract ORPHA:394
Fraser Syndrome
Hypospadias, Tracheal stenosis, Abnormal vagina morphology, High palate, Ectopic anus, Urethral a... ORPHA:2052
Johanson-Blizzard Syndrome
Hypospadias, Rectovaginal fistula, Urethrovaginal fistula, Malabsorption, Aplasia cutis congenita... OMIM:243800
Dyskeratosis Congenita, X-Linked
Hypospadias, Pterygium, Urethral stenosis, Phimosis, Dermal atrophy, Esophageal stricture, Catara... OMIM:305000
Meckel Syndrome 12
Vaginal atresia, Bifid uvula OMIM:616258
Tetraamelia Syndrome 1
Cleft palate, Urethral atresia, Hypoplasia of the fallopian tube, Anal atresia, Vaginal atresia, ... OMIM:273395
Caroli Disease
Conjunctival icterus, Esophageal varix, Cholangiocarcinoma ORPHA:53035
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blue irides, Absence of Stensen duct, Cleft palate, Urethral stenosis, Xerostomia, Hypogonadotrop... OMIM:604292
Chand Syndrome
Cleft palate, Imperforate hymen, Bifid tongue, Dry skin, Commissural lip pit ORPHA:1401
Cartilage-Hair Hypoplasia
Malabsorption, Aganglionic megacolon, Esophageal atresia OMIM:250250
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma, Skin rash ORPHA:220295
Xeroderma Pigmentosum, Complementation Group B
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm OMIM:610651
Dyskeratosis Congenita, Autosomal Recessive 1
Esophageal stricture, Pterygium, Oral leukoplakia, Nasolacrimal duct obstruction OMIM:224230
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Skin ulcer, Esophageal varix, Urticarial plaque OMIM:615688
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Gastric ulcer, Esophageal varix, Azoospermia, Corneal opacity, Skin ulcer ORPHA:2072
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Intestinal polyposis, Esophageal varix ORPHA:774
Immunodeficiency 23
High palate, Esophageal stricture, Erythema OMIM:615816
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... ORPHA:90796
Pendred Syndrome
Tracheal stenosis ORPHA:705
Feingold Syndrome
Esophageal atresia, Duodenal atresia ORPHA:1305
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hyperkeratosis ORPHA:79430
Waardenburg Syndrome, Type 1
Heterochromia iridis, Hypoplastic iris stroma, Aplasia of the vagina, Blue irides OMIM:193500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... OMIM:202010
Granulomatosis With Polyangiitis
Tracheal stenosis, Keratitis, Skin ulcer, Conjunctivitis OMIM:608710
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Cleft palate, Meckel diverticulum, Duodenal atresia, Neonatal death, Congenital shor... OMIM:265380
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Fused labia minora, Hypoplastic labia majora, Vaginal atresia OMIM:207410
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Squamous cell carcinoma of the skin, Recurrent skin infections ORPHA:79396
Feingold Syndrome 1
High palate, Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia OMIM:164280
Caroli Syndrome
Esophageal varix, Cholangiocarcinoma, Melena, Conjunctival icterus, Hematemesis ORPHA:480520
Lysosomal Acid Lipase Deficiency
Xanthelasma, Steatorrhea, Xanthomatosis, Esophageal varix ORPHA:275761
Hardikar Syndrome
Bilateral cleft lip and palate, Preauricular pit, Esophageal varix, Celiac disease, Cleft soft pa... OMIM:301068
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, High palate, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus,... OMIM:614527
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Hypospadias, Tracheal stenosis, Aganglionic megacolon, Cleft palate, Sclerocorn... ORPHA:818
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Cataract OMIM:302960
Severe Generalized Junctional Epidermolysis Bullosa
Aplasia cutis congenita, Skin erosion, Esophageal stricture, Gastrointestinal inflammation, Ureth... ORPHA:79404
Feingold Syndrome Type 1
Duodenal atresia, Gastrointestinal atresia, Esophageal atresia, Jejunal atresia, Anal atresia ORPHA:391641
Brachytelephalangic Chondrodysplasia Punctata
Tracheal stenosis, Gastroesophageal reflux, Cataract ORPHA:79345
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Vaginal atresia, Hydrometrocolpos OMIM:617088
Fraser Syndrome 1
Hypospadias, Cleft palate, Abnormality of the small intestine, Abnormality of the anus, Clitoral ... OMIM:219000
Microphthalmia, Syndromic 2
Hypospadias, Developmental cataract, Bifid uvula, Iris coloboma, Septate vagina, Cryptorchidism, ... OMIM:300166
Distal Monosomy 12Q
Pyloric stenosis, High, narrow palate, Unilateral cryptorchidism, Duodenal atresia, Microglossia,... ORPHA:96149
Oculocutaneous Albinism
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:55
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pyloric stenosis, Hypospadias, Cleft palate, Bifid scrotum, Iris coloboma, Micropenis, Septate va... ORPHA:261552
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Urethrovaginal fistula, Esophageal atresia, Uterus didelphys, Anal atresia, Bifid t... ORPHA:93271
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Tracheal stenosis, High palate, Cleft palate, Bifid uvula, Cryptorchidism, Gast... OMIM:617137
Oculocutaneous Albinism Type 2
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79432
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pyloric stenosis, Hypospadias, Dysphagia, Cleft palate, Aganglionic megacolon, Bifid scrotum, Tra... ORPHA:261537
Mowat-Wilson Syndrome
Pyloric stenosis, Hypospadias, Cleft palate, Bifid scrotum, Iris coloboma, Micropenis, Septate va... ORPHA:2152
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Esophageal varix, Small scrotum, Intestinal malrotation, Gastroesophageal reflux OMIM:613658
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dysphagia, High palate, Cutis laxa, Esophageal varix, Cleft soft palate, Unicornuate uterus, Eryt... OMIM:619503
Larsen Syndrome
Cleft palate, Cryptorchidism, Corneal opacity, Tracheal stenosis OMIM:150250
Pallister-Hall Syndrome
Hypospadias, Cleft palate, Aplasia/hypoplasia of the uterus, Small scrotum, Microglossia, Bifid u... ORPHA:672
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Congenital Tracheomalacia
Gastroesophageal reflux, Cutis laxa, Esophageal atresia, Tracheoesophageal fistula ORPHA:95430
Autosomal Recessive Polycystic Kidney Disease
Esophageal varix, Cholangiocarcinoma, Hepatoblastoma, Gastrointestinal hemorrhage, Protein-losing... ORPHA:731
Cartilage-Hair Hypoplasia
Tracheal stenosis, Sacral dimple, Aganglionic megacolon, Malabsorption ORPHA:175
Ulnar-Mammary Syndrome
Pyloric stenosis, Imperforate hymen, Anal atresia, Micropenis, Anal stenosis, Shawl scrotum OMIM:181450
Charge Syndrome
Dysphagia, Cleft palate, Duodenal atresia, Labial hypoplasia, Hypogonadotropic hypogonadism, Exte... OMIM:214800
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Squamous cell carcinoma of the skin OMIM:127550
Senior-Boichis Syndrome
Esophageal varix ORPHA:84081
Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Cleft palate, Tracheal stenosis OMIM:300712
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Basal cell carcinoma, Pulmonary carcinoid tumor, Squamous cell ca... ORPHA:363618
Igg4-Related Thyroid Disease
Sialadenitis, Dysphagia, Tracheal stenosis ORPHA:64744
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Tracheal stenosis, Cleft palate, Micropenis, Cryptorchidism ORPHA:163979
Hepatocellular Carcinoma
Abnormal rectum morphology, Esophageal varix ORPHA:88673
Adams-Oliver Syndrome 1
Aplasia cutis congenita on trunk or limbs, Cleft palate, Imperforate hymen, Aplasia cutis congeni... OMIM:100300
Hydrolethalus Syndrome 1
Hypospadias, Tracheal stenosis, Abnormal vagina morphology, Cleft palate, Bifid uterus, Stillbirth OMIM:236680
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis ORPHA:93352
Maternal Phenylketonuria
High palate, Esophageal atresia ORPHA:2209
Geleophysic Dysplasia 1
Tracheal stenosis, Lack of skin elasticity OMIM:231050
Gabriele-De Vries Syndrome
High palate, Lacrimal duct stenosis, Esophageal atresia, Oral-pharyngeal dysphagia, Astigmatism, ... ORPHA:506358
Geleophysic Dysplasia 3
Tracheal stenosis OMIM:617809
Peters-Plus Syndrome
Hypospadias, Hypoplastic labia majora, Cleft palate, Preauricular pit, Hypoplasia of the vagina, ... OMIM:261540
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Dysphagia, High palate, Imperforate hymen, Chordee, Urethral stricture, Cryptorchidi... OMIM:619522
Vater/Vacterl Association
Hypospadias, Tracheoesophageal fistula, Esophageal atresia, Anal atresia OMIM:192350
Fraser Syndrome 3
Tracheal atresia OMIM:617667
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death, Gastroesophageal reflux, Esophageal varix OMIM:619534
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Milia, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyp... ORPHA:69087
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Meningioma, Neoplasm, Patent ductus arteriosus, Spinal cord tumor, Pilomatrixoma ORPHA:353281
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Cleft palate, Macroglossia, Small s... OMIM:601803
Alström Syndrome
Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Posterior subcapsular... ORPHA:64
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pilomatrixoma, Meningioma, Patent ductus arteriosus ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pilomatrixoma, Meningioma, Patent ductus arteriosus ORPHA:353277
Naegeli-Franceschetti-Jadassohn Syndrome
Palmoplantar keratoderma OMIM:161000
Tetrasomy 9P
Pilomatrixoma ORPHA:3310
Dermatopathia Pigmentosa Reticularis
Palmoplantar hyperkeratosis OMIM:125595
Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive
OMIM:601001

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 Krt14

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 Krt14.

No publications found that use IMPC mice or data for Krt14.

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MGI Allele Allele Type Produced
Krt14tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Krt14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Krt14tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Krt14tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Krt14tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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