Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
filaggrin
Synonyms:
fillagrin,  ft,  profilaggrin

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis, Ichthyosis, Absent keratohyalin granules OMIM:146700

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Candidiasis, Familial, 6
Chronic mucocutaneous candidiasis OMIM:613956
Lymphoblastic Transformation, Intrinsic Defect In
Chronic mucocutaneous candidiasis OMIM:247450
Lymphoblastic Transformation, Inhibition Of
Chronic mucocutaneous candidiasis OMIM:247430
Lymphokine Deficiency
Chronic mucocutaneous candidiasis OMIM:247650
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Vohwinkel Syndrome, Variant Form
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Spinous keratoses of palms and soles, Porokeratosis OMIM:175860
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Hypotrichosis Simplex Of The Scalp
Fine hair, Atopic dermatitis, Alopecia of scalp, Pruritus, Parakeratosis, Slow-growing scalp hair... ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:613943
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Palmoplantar Keratoderma, Epidermolytic
Localized epidermolytic hyperkeratosis, Increased circulating IgE level, Palmar hyperkeratosis, P... OMIM:144200
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolytic Hyperkeratosis
Erythroderma, Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkera... OMIM:113800
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal... ORPHA:79147
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis, Scaling skin, Epidermal acanthosis OMIM:602723
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin, Epidermal acanthosis ORPHA:464318
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Dissecting Cellulitis Of The Scalp
Pruritus, Edema, Recurrent skin infections ORPHA:345
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis... ORPHA:530838
Peeling Skin Syndrome 1
Onycholysis, Pruritus, Brittle hair, Erythema, Abnormality of hair texture, Increased circulating... OMIM:270300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R... OMIM:615508
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:612281
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery... ORPHA:79395
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Ep... OMIM:133200
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis OMIM:607936
Acrokeratosis Verruciformis
Acrokeratosis, Epidermal acanthosis, Hyperkeratosis OMIM:101900
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis, Ichthyosis, Absent keratohyalin granules OMIM:146700
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma OMIM:615024
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Increase... OMIM:618944
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritu... ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Epidermal acanthosis OMIM:615022
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Nail dystrophy, Increased circulating IgE level, Abnormal toenail morphology, Hyperkera... ORPHA:89843
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos... ORPHA:454
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis, Epidermal acanthosis OMIM:615598
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Bazex Syndrome
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, S... ORPHA:166113
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis, Epidermal acanthosis OMIM:617525
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis ORPHA:38
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Morphea, Scaling skin, Scleroderma ORPHA:90158
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... ORPHA:100976
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... ORPHA:87503
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Increased... ORPHA:90280
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized... OMIM:608649
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Ichthyosis, Fa... OMIM:603165
Lymphatic Malformation 3
Recurrent skin infections, Lymphedema OMIM:613480
Netherton Syndrome
Fine hair, Eczema, Acanthosis nigricans, Sparse eyelashes, Abnormal hair morphology, Erythroderma... ORPHA:634
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Erythema, Scaling skin, C... ORPHA:79481
Acral Peeling Skin Syndrome
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis, Scaling skin, Epidermal acanthosis OMIM:616295
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis OMIM:212360
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema OMIM:147050
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Acne, Follicular hyperkeratosis, Facial erythema, Contact dermat... ORPHA:3406
Classic Mycosis Fungoides
Eczema, Pruritus, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer ORPHA:2584
Netherton Syndrome
Erythroderma, Angioedema, Decreased circulating IgG level, Brittle hair, Hypernatremic dehydratio... OMIM:256500
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Dry skin, Cutis laxa, Alopecia of scalp, Absent pubic hair, Sparse e... ORPHA:2269
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa, Epidermal acanthosis ORPHA:79148
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis ORPHA:79100
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin, Erythroderma, Hyperkeratosis OMIM:609180
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Vulvovaginal Gingival Syndrome
Ridged nail, Pruritus, Erythema, Parakeratosis, Abnormality of tumor necrosis factor secretion, E... ORPHA:83453
Riddle Syndrome
Dry skin, Decreased circulating IgG level OMIM:611943
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Odontoonychodermal Dysplasia
Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Ery... OMIM:257980
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... ORPHA:281127
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Alopecia, Parakeratosis, Orthokeratosis, Thick hair, Ichthyosis, Dry skin, Spar... OMIM:607626
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Deep dermatophytosis OMIM:212050
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Chronic otitis media, Skin ulcer, Increased circulating IgE level, ... ORPHA:217390
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Molluscum contagiosum, Increased circulating IgG level OMIM:618982
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Sézary Syndrome
Erythroderma, Abnormal immunoglobulin level, Nail dystrophy, Palmoplantar keratoderma, Alopecia, ... ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Pustule, Perianal erythema, Increased circulating IgE level, Perioral erythema, Par... OMIM:614328
Immunodeficiency 55
Dry skin, Eczema, Recurrent skin infections, Ichthyosis OMIM:617827
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Lamellar Ichthyosis
Erythroderma, Chronic otitis media, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis... ORPHA:313
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... OMIM:617388
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Oculotrichodysplasia
Dry skin, Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... OMIM:257960
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Psoriasiform lesi... OMIM:618131
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin ORPHA:317
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Sjögren-Larsson Syndrome
Erythema, Inflammatory abnormality of the eye, Ichthyosis, Hyperkeratosis, Dry skin ORPHA:816
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Erythema, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... OMIM:147060
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer ORPHA:2337
Recessive X-Linked Ichthyosis
Dry skin, Ichthyosis, Hyperkeratosis ORPHA:461
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Pruritus, Dry skin, Cutis laxa OMIM:105250
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Palmopl... OMIM:300918
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin OMIM:614457
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar keratoderma, Punctate keratitis, Ichthyosis, Hyperkeratosis OMIM:602540
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... OMIM:242300
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly ORPHA:384
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
White Sponge Nevus 2
Edema, Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus OMIM:617920
Bone Marrow Failure Syndrome 4
Dry skin, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity OMIM:618116
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... ORPHA:2199
Cutaneous Mastocytoma
Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Maculopapular exanthema, Scaling skin ORPHA:79455
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Facial erythema, Dr... OMIM:308800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... OMIM:617241
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma, Ichthyosis, Hypoalbuminemia ORPHA:1954
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function, Inflam... ORPHA:277
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Dowling-Degos Disease 4
Hypergranulosis, Epidermal acanthosis OMIM:615696
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Psoriasiform lesion, Increased circulating IgA level, Decreased lymphocyte prolifer... ORPHA:169154
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema OMIM:618985
Olmsted Syndrome 2
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... OMIM:619208
Coxoauricular Syndrome
Microtia, Hearing impairment OMIM:122780
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Lichen Planus Pemphigoides
Pruritus, Skin vesicle, Hyperkeratosis, Blepharitis, Conjunctivitis ORPHA:254478
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... ORPHA:2200
Pili Torti-Onychodysplasia Syndrome
Eczema, Brittle hair, Palmoplantar keratoderma, Alopecia, Absent eyelashes, Absent eyebrow, Nail ... ORPHA:2890
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Kimura Disease
Increased circulating IgE level ORPHA:482
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis ORPHA:79399
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand... OMIM:606367
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:607602
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Iga Pemphigus
Pustule, Acantholysis, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of th... ORPHA:555905
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Reduced natural killer cell activity, Decrea... OMIM:300400
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Trichothiodystrophy 1, Photosensitive
Fine hair, Tiger tail banding, Small nail, Erythroderma, Decreased circulating IgG level, Brittle... OMIM:601675
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Pruritus, Palmoplantar keratoderma, Keratitis, Ichthyosis ORPHA:79394
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash, Skin vesicle ORPHA:90000
Harlequin Ichthyosis
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma ORPHA:457
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Ichthyosis OMIM:618495
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Erythema, Parakeratosis, Elevated ... OMIM:614204
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eczema OMIM:618523
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... ORPHA:3361
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Abnormal hair morphology, Dystrophic fingernails, Pruritus, Increased circulating IgE lev... ORPHA:2314
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Phenylketonuria
Dry skin, Eczema, Scleroderma OMIM:261600
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cut... OMIM:618204
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Dracunculiasis
Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Skin ulcer ORPHA:231
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Erythema, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis OMIM:615821
Keratolytic Winter Erythema
Pustule ORPHA:50943
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Pyoderma gangrenosum, Decreased circulating antibody level, Recurrent skin infect... OMIM:616576
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Dry skin, Eczema OMIM:612947
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Immunodeficiency 64
Defective T cell proliferation, Increased circulating IgA level, Decreased circulating IgG level,... OMIM:618534
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Parakeratosis, Skin vesicle ORPHA:158681
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter... ORPHA:90186
Diffuse Cutaneous Mastocytosis
Erythroderma, Peau d'orange, Pruritus, Thickened skin, Scaling skin ORPHA:79456
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Nail dystrophy, Palmoplantar keratoderma, Abnormal epidermal morphology, H... ORPHA:79501
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619632
Rare Cutaneous Lupus Erythematosus
Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam... ORPHA:535
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Popov-Chang syndrome
Dry skin, Decreased circulating antibody level, Coarse hair, Hyperkeratosis OMIM:618428
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Keratitis, Follicular hyperkeratosis, Scaling skin, Dry skin OMIM:308205
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia OMIM:612138
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:606545
Hidrotic Ectodermal Dysplasia
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker... ORPHA:189
Tempi Syndrome
Ascites, Increased circulating IgG level, Facial erythema, Transudative pleural effusion ORPHA:284227
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Abnormal hair morphology, Edema, Pedal edema OMIM:152800
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis OMIM:616029
Caspase 8 Deficiency
Eczema, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced ly... OMIM:607271
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... ORPHA:169160
Darier Disease
Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat... ORPHA:218
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Mixed hearing impairment, Stenosis of the external auditory canal, Increased in... OMIM:612290
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Erythema ORPHA:90159
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Pneumon... OMIM:614700
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious ... ORPHA:540
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderm... OMIM:613576
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Mpdu1-Cdg
Elevated circulating creatine kinase concentration, Eczema, Scaling skin, Ichthyosis ORPHA:79323
Corneodermatoosseous Syndrome
Erythroderma, Palmoplantar hyperkeratosis OMIM:122440
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Boutonneuse Fever
Petechiae, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanth... ORPHA:83313
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis ORPHA:79151
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod... OMIM:242100
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Increased circulating IgA level, Nail dystrophy, Erythema, Increased circulating IgG lev... OMIM:615934
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Kid Syndrome
Conjunctivitis, Psoriasiform dermatitis, Keratoconjunctivitis sicca, Folliculitis, Recurrent cuta... ORPHA:477
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Reticular Dysgenesis
Chronic otitis media, Skin ulcer, Decreased circulating antibody level, Skin rash ORPHA:33355
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Igg4-Related Aortitis
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... ORPHA:449400
Lichen Planopilaris
Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis ORPHA:525
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Dry skin, Abnormal fi... ORPHA:248
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Sensorineural hearing impairment, Microt... OMIM:618500
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin... OMIM:300861
Chronic Recurrent Multifocal Osteomyelitis
Palmoplantar pustulosis, Osteomyelitis OMIM:259680
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis OMIM:612379
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Dermoodontodysplasia
Dry skin, Nail dysplasia, Trichodysplasia OMIM:125640
Darier-White Disease
Acrokeratosis, Subungual hyperkeratotic fragments, Pruritus, Acantholysis OMIM:124200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Apla... OMIM:300291
Insulin Autoimmune Syndrome
Increased circulating antibody level, Acanthosis nigricans ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Impaired T cell function, Decreased specific anti-polysaccharide antibody level, H... OMIM:614576
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Prolidase Deficiency
Pruritus, Erythema, Palmoplantar keratoderma, Hyperkeratosis, Dry skin, Crusting erythematous der... ORPHA:742
Pgm3-Cdg
Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Chronic otitis media, Increased cir... ORPHA:443811
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Edema, Recurrent pneumonia, Dehydration, Epidermal acanthosis OMIM:616069
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Conductive hearing impairment, Morphological abnormality of the middle ear, Overfo... ORPHA:79113
Porokeratosis
Pruritus, Hyperkeratosis ORPHA:79358
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:601859
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Dry skin, Sparse and thin eyebrow... OMIM:129490
Leopard Syndrome 3
Epidermal hyperkeratosis, Webbed neck, Posteriorly rotated ears, Sensorineural hearing impairment... OMIM:613707
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Palmoplantar keratoderma, Sparse eyeb... ORPHA:1010
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Microtia OMIM:248390
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Immunodeficiency 23
Eczema, Allergic rhinitis, Bronchiectasis, Erythema, Increased circulating IgG level, Chronic muc... OMIM:615816
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Trichothiodystrophy 3, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ichthyosis OMIM:616395
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Bacterial Toxic-Shock Syndrome
Ecchymosis, Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated cir... ORPHA:36234
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Pleural effusion ORPHA:2902
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgA level, Abnormal immunoglobulin level, Decreased circulating IgG level, ... ORPHA:276
Omenn Syndrome
Erythroderma, Pneumonia, Pruritus, Edema, Thickened skin, Thyroiditis, Dry skin ORPHA:39041
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Eczema, Petechiae OMIM:313900
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Xeroderma Pigmentosum Variant
Dry skin, Keratitis ORPHA:90342
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Protruding ear, Short ear OMIM:614756
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Arthritis, Hyperkeratosis, Skin vesicle ORPHA:79145
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Eczema, Alopecia, Erythroderma OMIM:304790
Uremic Pruritus
Inflammatory abnormality of the skin, Abnormality of serum cytokine level, Pruritus, Recurrent sk... ORPHA:94059
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:613493
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Low-set ears... OMIM:602588
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Immunodeficiency 27A
Increased circulating IgM level, Increased circulating IgG level OMIM:209950
Meier-Gorlin Syndrome 8
Low-set ears, Microtia OMIM:617564
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Pruritus, Chapped lip, Palmoplantar keratoderma, Follicular hyperkeratosis, Recurrent ... ORPHA:158668
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Autoimmune Lymphoproliferative Syndrome, Type Iia
Petechiae, Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating... OMIM:603909
Dermoodontodysplasia
Fingernail dysplasia, Dry skin, Sparse scalp hair, Trichodysplasia, Sparse body hair, Toenail dys... ORPHA:1660
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Periorbital edema, Skin rash OMIM:618048
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:859
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Moynahan Syndrome
Sensorineural hearing impairment, Hyperkeratosis ORPHA:2574
Immunodeficiency 50
Eczema OMIM:300988
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis ORPHA:36386
Keratoderma Hereditarium Mutilans
Hearing impairment, Sensorineural hearing impairment, Ichthyosis, Honeycomb palmoplantar hyperker... ORPHA:494
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:618969
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Abnormality of neutrophil physiology, Skin ulcer ORPHA:542592
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Recurrent bacterial skin infections, Sca... ORPHA:294023
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Microtia
Abnormality of the pinna, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic h... ORPHA:83463
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Elastoderma
Eczema, Erysipelas ORPHA:228240
Acrocephalopolydactyly
Microtia ORPHA:221054
Milroy Disease
Predominantly lower limb lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Lymphedema ORPHA:79452
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, E... ORPHA:420741
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia OMIM:618806
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Decreased specific pneumococcal antibody level, Purpura,... OMIM:613496
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis, Elevated circulating C-reactive pr... OMIM:612852
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Ichthyosis, Slow-growing hair, Dry skin OMIM:616943
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Erythroderma, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alop... ORPHA:35173
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion, Oligoarthritis, Pruritus, Sacroiliac arthritis, Ant... ORPHA:85436
Oral Erosive Lichen
Cheilitis, Dry skin, Erythema ORPHA:31142
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Keratoconjunctivitis sicca, Eczema, Inflammatory abnormality of the eye, Hyperkeratosi... ORPHA:238468
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... OMIM:615513
Wilson-Turner Syndrome
Microtia ORPHA:3459
3-Hydroxyisobutyric Aciduria
Microtia ORPHA:939
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Acanthosis nigricans OMIM:618527
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Acanthosis nigricans ORPHA:3085
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Skin rash ORPHA:1658
Subcorneal Pustular Dermatosis
Pruritus, Increased circulating antibody level, Erythema, Pustule ORPHA:48377
Menke-Hennekam Syndrome 1
Overfolded helix, Hearing impairment, Prominent inferior crus of antihelix, Absent earlobe, Low-s... OMIM:618332
Microcephalic Primordial Dwarfism, Montreal Type
Alopecia of scalp, Premature graying of hair, Dry skin, Low posterior hairline, Abnormal hair qua... ORPHA:2617
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Ohdo Syndrome
Stenosis of the external auditory canal, Microtia, Hearing impairment OMIM:249620
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Microtia ORPHA:1703
Angiostrongyliasis
Increased circulating IgA level, Pruritus, Increased circulating IgG level, Increased circulating... ORPHA:74
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Angioedema, Pus... ORPHA:139402
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator... ORPHA:229717
Coxoauricular Syndrome
Atresia of the external auditory canal, Microtia, Hearing impairment ORPHA:1508
Short Stature-Obesity Syndrome
Microtia OMIM:269870
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections OMIM:617744
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Epidermal acanthosis, Angular cheilitis, Skin vesicle OMIM:613102
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis, Dry skin OMIM:104570
Mednik Syndrome
Ichthyosis, Decreased circulating ceruloplasmin concentration, Hyperkeratosis ORPHA:171851
Rhizomelic Chondrodysplasia Punctata
Dry skin, Sparse body hair, Alopecia, Ichthyosis ORPHA:177
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Abnormal antihelix morphology, Microtia ORPHA:2145
Hemifacial Atrophy, Progressive
Microtia OMIM:141300
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin, Blepharitis OMIM:618535
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otitis media, Hepat... ORPHA:47
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Skin ulcer, Acral ulceration ORPHA:139578
Proteus Syndrome
Epidermal acanthosis, Hyperkeratosis OMIM:176920
Chilblain Lupus 1
Skin ulcer OMIM:610448
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Erythema, Arthritis, Redundant skin, Palmoplantar h... OMIM:259100
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Brittle hair, Palmoplantar keratoderma, Alopecia, Sparse eyebrow, Palmo... OMIM:104100
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis OMIM:618625
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Abnormality of the pinna, Microtia OMIM:613603
Short Stature And Facioauriculothoracic Malformations
Cupped ear, Overfolded helix, Low-set ears, Microtia OMIM:609654
Pellagra-Like Syndrome
Skin rash OMIM:260650
Noonan Syndrome 8
Eczema, Palmoplantar cutis laxa, Webbed neck, Polyhydramnios, Hyperkeratosis, Pleural effusion OMIM:615355
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Immunodeficiency 17
Eczema, Recurrent otitis media OMIM:615607
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear ORPHA:314647
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Eczema, Ichthyosis ORPHA:3055
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circulating antibod... OMIM:300635
Zechi-Ceide Syndrome
Conductive hearing impairment, Abnormal earlobe morphology, Stenosis of the external auditory can... ORPHA:217017
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Thickened skin, Acne, Hypoalbuminemia OMIM:614441
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:308230
Aspergillosis
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... ORPHA:1163
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Pyoderma gangrenosum, Acne, Arthritis, Colitis OMIM:604416
Catifa Syndrome
Microtia OMIM:618761
Chronic Mucocutaneous Candidiasis
Cheilitis, Pruritus, Hepatitis, Erythema, Skin rash, Hyperkeratosis, Skin ulcer ORPHA:1334
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Dystrophic toenail, Onycholysis, Nail dystrophy, Decreased number of sw... ORPHA:69087
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Hyperkeratosis OMIM:136300
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Scaling skin, Dry skin, Absent axillary... OMIM:618419
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
9P13 Microdeletion Syndrome
Dry skin, Recurrent otitis media ORPHA:324313
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:141400
Chromomycosis
Hyperkeratotic papule, Predominantly lower limb lymphedema, Keratoconjunctivitis sicca, Pruritus,... ORPHA:182
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Otitis media, Pneumonia OMIM:608971
20P12.3 Microdeletion Syndrome
Thickened helices, Microtia ORPHA:261295
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM ORPHA:2643
Distal Monosomy 17Q
Low-set, posteriorly rotated ears, Patent ductus arteriosus, Microtia ORPHA:1597
6Q16 Microdeletion Syndrome
Low-set ears, Abnormal ear morphology, Microtia ORPHA:171829
Igg4-Related Submandibular Gland Disease
Xerostomia, Increased circulating IgG4 level, Increased circulating IgG level, Facial edema, Comp... ORPHA:449432
Lipoid Proteinosis
Acne, Thickened skin, Pustule, Hyperkeratosis ORPHA:530
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Increased circulating IgE level, Absent specific antibody respon... OMIM:102700
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Acantholysis, Nail dystrophy, Palmoplantar keratosis with erythema and scale, A... OMIM:607655
Leishmaniasis
Rhinitis, Increased circulating antibody level, Pallor, Skin ulcer ORPHA:507
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Alopec... OMIM:615577
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... OMIM:619281
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... OMIM:617062
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Arthritis, Uveitis, Skin rash, Gen... ORPHA:92
Complex Regional Pain Syndrome
Slow-growing nails, Abnormality of hair growth, Erythema, Edema of the upper limbs, Dry skin, Ped... ORPHA:83452
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Microtia ORPHA:2547
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Dry skin, Palmoplantar hyperkeratosis OMIM:206600
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level OMIM:615846
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Conductive hearing impairment, Microtia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Prolidase Deficiency
Eczema, Petechiae, Increased circulating antibody level, Recurrent pneumonia, Crusting erythemato... OMIM:170100
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Keratitis OMIM:221810
Porphyria Cutanea Tarda
Chronic hepatitis, Increased circulating ferritin concentration, Decreased hepcidin level, Recurr... ORPHA:101330
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Adiposis Dolorosa
Dry skin, Recurrent skin infections, Arthritis ORPHA:36397
Xfe Progeroid Syndrome
Dry skin OMIM:610965
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Microtia ORPHA:357175
Au-Kline Syndrome
Microtia OMIM:616580
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Microtia ORPHA:2994
Gaucher Disease, Perinatal Lethal
Petechiae, Neonatal death, Congenital nonbullous ichthyosiform erythroderma, Purpura, Ichthyosis,... OMIM:608013
Familial Melanoma
Dry skin ORPHA:618
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hirsutism, Nail dystrophy, Abnormal hair whorl, Dry skin, Low posterior hairline, Synophrys OMIM:300860
Weiss-Kruszka Syndrome
Horizontal crus of helix, Overfolded helix, Low-set ears, Hearing impairment, Microtia, Cupped ea... OMIM:618619
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Acral ulceration, Complement deficiency, Paraproteinemia... ORPHA:91139
Wiskott-Aldrich Syndrome, Autosomal Dominant
Eczema, Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased s... OMIM:600903
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Posteriorly rotated ears, Microtia OMIM:618089
Schnitzler Syndrome
Pruritus, Increased circulating IgM level, Skin rash ORPHA:37748
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Congenital nonbullous ichthyosiform erythroderma, Microtia OMIM:275630
Skin Creases, Congenital Symmetric Circumferential, 2
Low-set ears, Posteriorly rotated ears, Microtia OMIM:616734
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema, Edema OMIM:177000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis ORPHA:300179
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Edema OMIM:600351
Mental Retardation, Autosomal Recessive 35
Low-set ears, Microtia OMIM:615162
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin, Acanthosis nigricans OMIM:268020
Omenn Syndrome
Hypoproteinemia, Thickened skin, Erythroderma, Pneumonia OMIM:603554
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG level, Decreased circul... ORPHA:331206
Trichothiodystrophy
Tiger tail banding, Eczema, Alopecia of scalp, Dystrophic fingernails, Split nail, Ridged nail, A...