Gene Summary

keratin 9
Krt1-9,  K9

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Krt9tm1.1(KOMP)Vlcg HOM Early adult 1.68×10-05
increased circulating iron level Krt9tm1.1(KOMP)Vlcg HOM Early adult 1.47×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
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
Bone  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

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)
bone 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)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
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%
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)
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)
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)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
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)
brain 1.18% (6 of 508)
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)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
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)

Associated Images

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


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Forepaw

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Section

13 Images


XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

15 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Krt9 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 Krt9 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Krt9 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Annular cutaneous lesion, Abnormal skin morphology of the palm, ... ORPHA:737
Darier Disease
Plantar pits, Macule, Abnormality of skin pigmentation, Pruritus, Subungual hyperkeratotic fragme... ORPHA:218
Epidermolysis Bullosa Simplex 1C, Localized
Palmoplantar blistering, Milia, Hyperkeratosis OMIM:131800
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Erythematous plaque, Pruritis on abd... ORPHA:64745
Dowling-Degos Disease
Hyperkeratotic papule, Abnormality of the hand, Epidermoid cyst, Progressive reticulate hyperpigm... ORPHA:79145
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Keloids, Mitten deformity, Pruritus, Erythematous papule, Atrophic scars, ... ORPHA:79410
Congenital Panfollicular Nevus
Hyperkeratosis, Verrucous papule, Skin nodule, Hamartoma ORPHA:139414
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Erythrokeratoderma ''En Cocardes''
Neoplasm of the skin, Abnormality of skin pigmentation, Neoplasm, Papule, Hyperkeratosis ORPHA:315
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Erythema migrans, Pruritus, Hyperpigmentation of the s... ORPHA:158681
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Pemphigus Foliaceus
Psoriasiform dermatitis, Neoplasm of the skin, Erythroderma, Pustule, Erythematous plaque, Acanth... ORPHA:79481
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Papule, Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Porokeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Abnormal phalangeal j... ORPHA:498359
Acquired Ichthyosis
Multiple myeloma, Pruritus, Erythema, Palmoplantar keratoderma, Neoplasm, Lymphoma, Sarcoma, Recu... ORPHA:454
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Skin erosion, Hyperkeratosis, Skin vesicle ORPHA:2841
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Hypopigmented streaks, Skin vesicle ORPHA:254478
Insulin-Resistance Syndrome Type A
Subcutaneous nodule, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Nevus, Pruritus, Atrophic scars, Hyperpigmentation of the skin, Hypopigmentation of the skin, Ski... ORPHA:89838
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Spotty hypopigmentation, Hypomelanotic macule, Pruritus, Spotty hyperpigm... ORPHA:79399
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Hemangioma, Papilloma, Skin plaque ORPHA:464318
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal skin morphology of the palm, ... ORPHA:69125
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Basal cell carcinoma, Papule, Squamous cell carci... ORPHA:409
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Annular cutaneous lesion, Neutrophilic infiltration of the skin,... ORPHA:555905
Atrophoderma Vermiculata
Hyperkeratotic papule, Skin pit, Periauricular skin pits, Pruritus, Atrophic scars, Erythema, Hyp... ORPHA:79100
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Thickened skin, Hyperkeratosis ORPHA:1659
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Cutis laxa, Annular cutaneous lesion, Erythematous papule, Skin-colored pa... ORPHA:79148
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ichthyosis Hystrix Of Curth-Macklin
Autoamputation of digits, Recurrent skin infections, Ichthyosis, Hyperkeratosis, Diffuse palmopla... ORPHA:79503
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the elbow, Pruritus, Atrophic scars, Dermal atrophy, Abnormality of the wrist, Abn... ORPHA:89843
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis OMIM:615598
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Parana Hard Skin Syndrome
Thickened skin, Tapered finger, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2812
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Sclerodactyly, Camptodactyly of finger, Facial erythema, Dry skin, Palmoplantar h... OMIM:212360
Classic Mycosis Fungoides
Hypopigmented skin patches, Neoplasm of the skin, Eczema, Skin plaque, Pruritus, Erythema, Lympho... ORPHA:2584
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Erythematous papule, Discoid lupus rash, ... ORPHA:90280
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Pachyonychia Congenita 4
Palmoplantar keratoderma, Steatocystoma multiplex, Hyperkeratosis OMIM:615728
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Hyperkeratotic papule, Pruritus, Erythematous papule, Perif... ORPHA:79147
Bazex Syndrome
Lip hyperpigmentation, Acanthosis nigricans, Liposarcoma, Lung adenocarcinoma, Pruritus, Palmopla... ORPHA:166113
Erythrokeratodermia Variabilis
Neoplasm of the skin, Patchy palmoplantar hyperkeratosis, Macule, Tapered finger, Erythema, Irreg... ORPHA:317
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle OMIM:613102
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Erythematous papule, Acne, Dermal atrophy, Follicular hyperkerat... ORPHA:3406
Abnormality of skin pigmentation, Pruritus, Squamous cell carcinoma of the skin, Dermal atrophy, ... ORPHA:79358
Familial Keratoacanthoma
Adenoma sebaceum, Neoplasm, Papule, Papilloma, Hyperkeratosis, Subcutaneous nodule, Skin ulcer ORPHA:493
Darier-White Disease
Plantar pits, Acantholysis, Palmar pits, Pruritus, Subungual hyperkeratotic fragments, Acrokerato... OMIM:124200
Psoriasis 2
Scaling skin, Psoriasiform dermatitis, Hyperkeratosis, Parakeratosis OMIM:602723
Pemphigoid Gestationis
Pruritus, Skin vesicle ORPHA:63275
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... ORPHA:79395
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Interphalangeal joint contracture of finger, Clubbing, Hypergranulosis,... ORPHA:2199
Erythema Elevatum Diutinum
Skin rash, Skin nodule, Skin vesicle ORPHA:90000
Warty Dyskeratoma
Neoplasm of the tongue, Acantholysis, Erythematous papule, Umbilicated nodule, Skin-colored papul... ORPHA:69745
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Pemphigus Erythematosus
Hypopigmented skin patches, Acantholysis, Erythematous plaque, Focal dermal aplasia/hypoplasia, S... ORPHA:79480
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... OMIM:613943
Recessive X-Linked Ichthyosis
Dry skin, Ichthyosis, Hyperkeratosis ORPHA:461
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Lichen Planopilaris
Hypopigmented skin patches, Pruritus, Dermal atrophy, Neoplasm of the oral cavity, Papule, Hyperk... ORPHA:525
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Pyoderma Gangrenosum
Pustule, Myelodysplasia, Atrophic scars, Papule, Myeloid leukemia, Skin ulcer, Skin vesicle ORPHA:48104
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Erythematous plaque, Parakerat... OMIM:618531
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Hyperkeratosis, Progressive hyperpigme... OMIM:145250
Infantile Digital Fibromatosis
Hyperkeratosis, Skin nodule, Parakeratosis ORPHA:199267
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenit... OMIM:612281
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Acrokeratosis Verruciformis Of Hopf
Verrucae, Skin-colored papule, Hypergranulosis, Hyperkeratosis, Punctate palmoplantar hyperkerato... ORPHA:79151
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin OMIM:607936
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Wells Syndrome
Pruritus, Skin vesicle ORPHA:901
Dermatitis, Atopic
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Ichthyosis, Facial erythema, Dry ... OMIM:603165
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Acantholysis, Mitten deformity, Aplasia cutis congenita, Sandal gap, Skin ero... OMIM:609638
Dermatitis Herpetiformis
Eczema, Macule, Pruritus, Erythema, Skin vesicle ORPHA:1656
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis OMIM:607602
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Palmar hyperhidrosis, Yellow papule, Hypergranulosis, Orthokeratosis, Piez... ORPHA:38
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Plantar hyperkeratosis, Spotty hypopigmentation, Hypomelanotic macule, Ret... ORPHA:79397
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:606545
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Li... ORPHA:87503
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar keratoderma, Scarring alopecia of scalp, Squamous cell carcinoma, Icht... OMIM:602540
Retinitis Pigmentosa 42
Pallor OMIM:612943
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Clubbing, Hyperkeratosis OMIM:609165
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R... OMIM:615508
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin ORPHA:90368
Pemphigus Vulgaris
Atypical scarring of skin, Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Leopard Syndrome 3
Epidermal hyperkeratosis, Webbed neck, Cubitus valgus, Multiple lentigines, Few cafe-au-lait spot... OMIM:613707
Hypopigmented skin patches, Verrucous papule, Hyperkeratotic papule, Multiple cutaneous malignanc... ORPHA:182
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Neoplasm, Esophageal carcinoma, Parakeratosis OMIM:148500
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Papule, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:494
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Ichthyosis, Hyperke... ORPHA:816
Neuropathy, Hereditary Sensory, Type If
Hallux valgus, Osteolytic defects of the phalanges of the hand, Hyperkeratosis OMIM:615632
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Erythema, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis OMIM:615821
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Sweet Syndrome
Chronic lymphatic leukemia, Abnormality of the hand, Predominantly dermal neutrophilic infiltrate... ORPHA:3243
Ichthyosis, Congenital, Autosomal Recessive 2
Short finger, Erythema, Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyos... OMIM:242100
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Retinitis Pigmentosa 60
Pallor OMIM:613983
Vulvovaginal Gingival Syndrome
Skin erosion, Pruritus, Erythema, Parakeratosis ORPHA:83453
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Erythematous plaque, Palmoplantar keratoderma, Parakeratosis, Hypergran... OMIM:173200
Proteus Syndrome
Epidermal nevus, Depigmentation/hyperpigmentation of skin, Nevus, Hemangioma, Lymphangioma, Lipom... OMIM:176920
Retinitis Pigmentosa 81
Pallor OMIM:617871
Hennekam-Beemer Syndrome
Macule, Generalized hyperpigmentation, Abnormality of skin pigmentation, Pruritus, Thickened skin... ORPHA:2135
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Dry skin, Erythema, Decreased movement range in interphalangeal joints, Scalin... ORPHA:530838
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Au... ORPHA:100976
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis OMIM:133200
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... ORPHA:2200
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Papule, Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:257
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Pallor OMIM:268040
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Hyperpigmentation of the skin, Palmoplantar keratoderma, Palmoplantar e... OMIM:104100
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Abnormality of skin pigmentation, Ichthyosis, Hyperkeratosis OMIM:612379
Porphyria Variegata
Hepatocellular carcinoma, Hyperpigmentation of the skin, Thickened skin, Hypopigmentation of the ... ORPHA:79473
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Palmoplantar keratoderma, Hyperkeratosis OMIM:616295
Prolidase Deficiency
Abnormality of retinal pigmentation, Pruritus, Erythema, Palmoplantar keratoderma, Arachnodactyly... ORPHA:742
Optic Atrophy 9
Pallor OMIM:616289
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis ORPHA:2269
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... OMIM:300918
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Pruritus, Lymphoma, Papule, Skin rash, Skin ulcer, Skin vesicle ORPHA:2314
Congenital Disorder Of Glycosylation, Type If
Dry skin, Hyperkeratosis, Erythroderma, Scaling skin OMIM:609180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Huriez Syndrome
Palmoplantar keratoderma, Sclerodactyly, Lack of skin elasticity, Aplasia/Hypoplasia of the skin,... ORPHA:384
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin OMIM:614457
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Abnormality of limb bone morphology, Freckling, Melanocytic nevus ORPHA:1573
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Porokeratosis 1, Multiple Types
Neoplasm of the skin, Porokeratosis, Parakeratosis OMIM:175800
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Cafe-au-lait spot OMIM:618625
Lamellar Ichthyosis
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Dry skin ORPHA:313
Peripheral Cone Dystrophy
Pallor OMIM:609021
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Pallor, Hypopigmentation of the skin ORPHA:2786
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Flynn-Aird Syndrome
Hyperkeratosis, Dermal atrophy OMIM:136300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderm... OMIM:613576
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Punctate Palmoplantar Keratoderma Type 1
Brain neoplasm, Basal cell carcinoma, Palmoplantar keratoderma, Neoplasm of the skeletal system, ... ORPHA:79501
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... OMIM:619208
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Scarring alopecia of scalp, Follicular hyperkeratosis, Fa... OMIM:308800
Lipoid Proteinosis
Pustule, Verrucae, Thickened skin, Acne, Papule, Hyperkeratosis, Subcutaneous nodule ORPHA:530
Rare Cutaneous Lupus Erythematosus
Skin detachment, Skin erosion, Erythematous macule, Mixed hypo- and hyperpigmentation of the skin... ORPHA:535
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Palmoplantar Keratoderma, Epidermolytic
Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt... OMIM:144200
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Dyskeratosis Congenita
Hypopigmented skin patches, Macule, White hair, Skin ulcer, Palmoplantar keratoderma, Neoplasm of... ORPHA:1775
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis OMIM:607655
Transgrediens Et Progrediens Palmoplantar Keratoderma
Lichenoid skin lesion, Erythematous plaque, Thickened skin, Recurrent cutaneous fungal infections... ORPHA:495
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis OMIM:616029
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Hyperpigmentation of the skin, Palmoplantar keratoderma, Thickened skin, C... ORPHA:189
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Retinitis Pigmentosa 70
Pallor OMIM:615922
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Hypercalcemia ORPHA:436
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Linear Verrucous Nevus Syndrome
Toe syndactyly, Verrucous papule, Astrocytoma, Neoplasm of the central nervous system, Short meta... ORPHA:2611
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Ramon Syndrome
Gingival fibromatosis, Abnormality of retinal pigmentation, Hyperkeratosis ORPHA:3019
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Harlequin Ichthyosis
Erythroderma, Foot polydactyly, Ichthyosis, Hand polydactyly, Hyperkeratosis, Congenital ichthyos... ORPHA:457
Optic Atrophy 1
Pallor OMIM:165500
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Thickened skin, Basal cell carcinoma, Squamous cell carcinoma of the ... ORPHA:79431
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Ichthyosis Prematurity Syndrome
Erythroderma, Pruritus, Hyperpigmentation of the skin, Follicular hyperkeratosis, Generalized ich... OMIM:608649
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Retinitis Pigmentosa 27
Pallor OMIM:613750
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis ORPHA:300179
Meige Disease
Angiosarcoma, Skin erosion, Recurrent bacterial skin infections, Atypical scarring of skin, Recur... ORPHA:90186
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Noonan Syndrome 8
Eczema, Palmoplantar cutis laxa, Webbed neck, Hyperpigmentation of the skin, Hyperkeratosis OMIM:615355
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Breath-Holding Spells
Pallor OMIM:607578
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Epidermolytic Hyperkeratosis
Scaling skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythro... OMIM:113800
Pten Hamartoma Tumor Syndrome
Hyperkeratotic papule, Plantar pits, Thyroid carcinoma, Endometrial carcinoma, Hemangioma, Renal ... ORPHA:306498
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythematous plaque, Abnormality of the elbow, Erythema, Palmoplantar keratosis with erythema and... ORPHA:158673
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis, Finger joint hyper... OMIM:615225
Psoriasis 14, Pustular
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis OMIM:614204
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer, Hyperkeratosis ORPHA:36386
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Cafe-au-lait spot OMIM:615234
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Pallor ORPHA:75563
Pachyonychia Congenita
Epidermoid cyst, Steatocystoma multiplex, Linear arrays of macular hyperkeratoses in flexural are... ORPHA:2309
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Ichthyosis, Acute leukemia, Hyperkeratosis ORPHA:281090
Retinitis Pigmentosa 73
Pallor OMIM:616544
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Arachnodactyly, Camptodactyly of finger, Hyperkeratosis ORPHA:1883
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Pallor, Shoulder girdle muscle weakness OMIM:608423
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration ORPHA:446
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin, Tapered finger OMIM:181600
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Dry skin, Orthokeratosis, Ichthyosis, Parakeratosis OMIM:607626
Werner Syndrome
Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma, Neoplasm of the smal... ORPHA:902
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Macule, Petechiae, Depigmentation/hyperpigmentation of skin, Pruritus, Erythema, Maculopapular ex... ORPHA:324625
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis, Parakeratosis OMIM:242300
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Chronic Mucocutaneous Candidiasis
Pruritus, Erythema, Papule, Skin rash, Hyperkeratosis, Skin ulcer ORPHA:1334
Pachyonychia Congenita 3
Epidermoid cyst, Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Pl... OMIM:615726
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hemoglobin D Disease
Pallor ORPHA:90039
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Spontaneous Periodic Hypothermia
Pallor, Skin rash ORPHA:29822
Lethal Acantholytic Erosive Disorder
Acantholysis, 3-4 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of the 5th finger, 2-3 f... ORPHA:158687
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Milroy Disease
Hyperkeratosis, Neoplasm of the skin, Erysipelas, Angiosarcoma ORPHA:79452
Pachyonychia Congenita 2
Palmoplantar hyperhidrosis, Folliculitis, Steatocystoma multiplex, Subungual hyperkeratosis, Epid... OMIM:167210
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hypohidrotic Ectodermal Dysplasia
Eczema, Generalized hypopigmentation of hair, Thin skin, Irregular hyperpigmentation, Hyperkerato... ORPHA:238468
Costello Syndrome
Acanthosis nigricans, Generalized hyperpigmentation, Ulnar deviation of finger, Lack of skin elas... ORPHA:3071
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hyperkeratosis OMIM:615279
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Palmoplantar keratoderma, Squamous cell carcinoma of the skin ORPHA:85112
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Abnormality of the calcaneus, Metaphyseal cupping of metacarpals, Rhizomelia, Short foot, Short p... ORPHA:163966
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis, Reticular hyperpigmentation OMIM:262020
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Popov-Chang syndrome
Small hand, Short foot, Hyperkeratosis, Dry skin, Clinodactyly of the 5th finger OMIM:618428
Abnormality of forearm bone, Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis... ORPHA:2583
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Skin ulcer, Hyperkeratosis ORPHA:1806
Myopathic Ehlers-Danlos Syndrome
Adducted thumb, Talipes equinovarus, Congenital finger flexion contractures, Tapered finger, Join... ORPHA:536516
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:602400
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Laryngeal papilloma OMIM:617388
Rare Circulatory System Disease
Abnormal metatarsal morphology, Enlargement of the wrists, Abnormality of the elbow, Abnormality ... ORPHA:98028
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Skin nodule, Erythematous plaque, Lymphoid leukemia, Brain neoplasm, Basal cell... ORPHA:79140
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis, Multiple cafe-au-lait spots ORPHA:1809
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Trichothiodystrophy 1, Photosensitive
Erythroderma, Freckling, Basal cell carcinoma, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:601675
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Syndactyly OMIM:615631
Neonatal Lupus Erythematosus
Erythematous plaque, Parakeratosis, Malar rash, Maculopapular exanthema, Skin rash, Hyperkeratosis ORPHA:398124
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Leukocyte Adhesion Deficiency Type Ii
Broad palm, Limb undergrowth, Overlapping toe, Skin vesicle ORPHA:99843
Hemochromatosis, Type 2B
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:613313
Odontoonychodermal Dysplasia
Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Palmoplantar hyperhidrosis, Plantar hyperker... OMIM:257980
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Skin ulcer, Pallor, Papule, Skin plaque ORPHA:507
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Kid Syndrome
Trichilemmoma, Neoplasm of the skin, Skin nodule, Palmoplantar keratoderma, Acne inversa, Skin pl... ORPHA:477
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Skin rash, Lymphoma ORPHA:90036
Myeloproliferative disorder, Pallor, Purpura OMIM:254450
Xeroderma Pigmentosum
Hypopigmented skin patches, Macule, Freckling, Thickened skin, Erythema, Neoplasm, Thin skin, Mel... ORPHA:910
Premature Aging Syndrome, Penttinen Type
Osteolytic defects of the phalanges of the hand, Brachydactyly, Hyperkeratosis OMIM:601812
Kindler Epidermolysis Bullosa
Short 5th metacarpal, Abnormality of skin pigmentation, Erythema, Palmoplantar keratoderma, Hyper... ORPHA:2908
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Cowden Syndrome
Neoplasm of the skin, Meningioma, Endometrial carcinoma, Palmoplantar keratoderma, Papilloma, Con... ORPHA:201
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Naegeli-Franceschetti-Jadassohn Syndrome
Generalized reticulate brown pigmentation, Interphalangeal joint contracture of finger, Subungual... ORPHA:69087
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
Retinitis Pigmentosa 51
Pallor, Bone spicule pigmentation of the retina OMIM:613464
Follicular hyperkeratosis ORPHA:573
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Hyperkeratosis, Atypical scarring of skin, Camptodactyly, Dry skin OMIM:601701
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Donohue Syndrome
Large hands, Acanthosis nigricans, Hypermelanotic macule, Hyperkeratosis OMIM:246200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormality of the elbow, Synostosis of carpal bones, Finger synd... ORPHA:1005
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Toxic Epidermal Necrolysis
Erythema, Macule, Skin ulcer, Acantholysis ORPHA:537
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized reticulate brown pigmentation, Depigmentation/hyperpigmentation of skin, Atrophic sca... ORPHA:79396
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Postaxial polydactyly, Hyperkeratosis OMIM:614576
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Cardiofaciocutaneous Syndrome
Cavernous hemangioma, Abnormality of the ulna, Generalized hyperpigmentation, Excessive wrinkled ... ORPHA:1340
Perifollicular hyperkeratosis OMIM:158000
Juvenile Idiopathic Arthritis
Generalized hyperkeratosis, Psoriasiform dermatitis, Thickened skin, Skin rash ORPHA:92
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Thickened skin, Basal cell carcinoma, Squamous ce... ORPHA:79434
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Bethlem Myopathy
Interphalangeal joint contracture of finger, Cigarette-paper scars, Curved toe phalanx, Wrist fle... ORPHA:610
Hypercalcemia OMIM:171300
Primary Myelofibrosis
Ecchymosis, Petechiae, Hemangioma, Purpura, Hematological neoplasm, Pallor ORPHA:824
Chronic Graft Versus Host Disease
Abnormality of skin pigmentation, Thickened skin, Intermittent generalized erythematous papular r... ORPHA:99921
Naxos Disease
Palmoplantar keratoderma, Acantholysis OMIM:601214
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Stevens-Johnson Syndrome
Erythema, Macule, Acantholysis ORPHA:36426
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Hypercalcemia ORPHA:98292
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Pallor, Acute leukemia ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Pallor, Myelodysplasia, Refractory anemia with ringed sideroblasts ORPHA:75564
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Follicular hyperkeratosis, Scaling skin, Postaxial hand polydactyly, Dry skin OMIM:308205
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Autoimmune Hemolytic Anemia
Pallor, Lymphoma ORPHA:98375
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:95409
Pallor, Skin ulcer ORPHA:848
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Carcinoma, Laryngeal carcinoma, Palmoplantar keratoderma, Scleroda... OMIM:610644
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
American Trypanosomiasis
Localized skin lesion, Pallor, Skin rash ORPHA:3386
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Short 1st metacarpal, Short thumb, Absent thumb, Pallor, Cafe-au-lait spot OMIM:609053
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Gardner Syndrome
Keloids, Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, P... ORPHA:79665
Incontinentia Pigmenti
Hypopigmented skin patches, Abnormality of skin pigmentation, Verrucae, Erythema, Finger syndacty... ORPHA:464
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Generalized reticulate brown pigmentation, Reticular hyperpigmentation, Clubbing, Hyperkeratosis OMIM:301220
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Hemochromatosis, Type 3
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:604250
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Timothy Syndrome
Hypocalcemia OMIM:601005
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Pallor, Lymphoproliferative disorder ORPHA:90033
Incontinentia Pigmenti
Abnormality of skin pigmentation, Pallor, Erythema, Hyperkeratosis OMIM:308300
Eec Syndrome
Toe syndactyly, Nevus, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Lymphoma, Fi... ORPHA:1896
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Noonan Syndrome 10
Palmoplantar cutis laxa, Webbed neck, Hyperpigmentation of the skin, Cubitus valgus, Hyperkeratos... OMIM:616564
Hermansky-Pudlak Syndrome
Partial albinism, Ocular albinism, Thickened skin, Basal cell carcinoma, Squamous cell carcinoma ... ORPHA:79430
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Myelodysplasia, Multiple myeloma, Pruritus, Chronic myelomonocytic le... ORPHA:98849
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Squamous cell carcinoma, Ichthyosis, Hyperkeratosis, Elbow f... OMIM:148210
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Netherton Syndrome
Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Parakeratosis OMIM:256500
Noonan Syndrome 2
Palmoplantar cutis laxa, Nevus, Leukemia, Hyperpigmentation of the skin, Cubitus valgus, Hyperker... OMIM:605275
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Rheumatic Fever
Pallor, Subcutaneous nodule, Macule, Erythema ORPHA:3099
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Nevus, Hyperparakeratosis, Macrodactyly, 2-4 toe syndactyly, Foot polydact... ORPHA:276280
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Acute leukemia, Aplasia/Hypoplasia of the phalan... ORPHA:3474
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824