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
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis OMIM:146700
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461

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
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa 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, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Chilblain Lupus 2
Chilblains OMIM:614415
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Porokeratosis, Spinous keratoses of palms and soles OMIM:175860
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin ORPHA:140933
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia... ORPHA:90368
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype... OMIM:144200
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,... OMIM:113800
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis ORPHA:737
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Edema ORPHA:345
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ulerythema Ophryogenesis
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... ORPHA:3406
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... ORPHA:530838
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Acrokeratosis OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... OMIM:133200
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:617525
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Ichthyosis Vulgaris
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis OMIM:146700
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi... ORPHA:79395
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma OMIM:615022
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Pruritus, Abnorm... ORPHA:79147
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level, Hyperkeratosis, Nail dystrophy, Abnormal toenail morph... ORPHA:89843
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery... OMIM:607602
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... ORPHA:166113
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... ORPHA:312
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Recurrent cutaneous fungal infections, Chr... OMIM:613953
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Increased circ... OMIM:615508
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Bathing Suit Ichthyosis
Parakeratosis, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, P... ORPHA:100976
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... ORPHA:2897
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea ORPHA:90158
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Increased circulating IgE level, Onycholysis, Scaling skin, Nail dystroph... OMIM:270300
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follic... OMIM:608649
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... ORPHA:79481
Ichthyosis With Confetti
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... OMIM:609165
Dermatitis, Atopic
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Polyhydramnios, Pustule, Increased circulating IgE level, Dehydration, Long... OMIM:616069
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... OMIM:616295
Lymphatic Malformation 3
Recurrent skin infections, Lymphedema OMIM:613480
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema OMIM:147050
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE level, Recu... OMIM:618282
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin, Chilblains, Increased circulating interferon-gamma concentration OMIM:612952
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Abnormality of tumor necros... ORPHA:83453
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Riddle Syndrome
Decreased circulating IgG level, Dry skin OMIM:611943
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... OMIM:256500
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa OMIM:617337
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Pedal edem... ORPHA:98813
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Molluscum contagiosum OMIM:618982
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye... OMIM:257980
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthy... OMIM:242300
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Sézary Syndrome
Alopecia, Edema, Abnormal immunoglobulin level, Pruritus, Palmoplantar keratoderma, Nail dystroph... ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth... OMIM:614328
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic... ORPHA:313
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo... OMIM:602540
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Erythema, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutaneous ... OMIM:147060
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,... ORPHA:2269
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Increased circulating IgA level, Thyroiditis, Palmoplantar hyperkeratosis, ... OMIM:617388
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, Disseminated... OMIM:617638
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin ORPHA:317
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Immunodeficiency 58
Recurrent cutaneous abscess formation, Molluscum contagiosum, Psoriasiform lesion, Eczema, Allerg... OMIM:618131
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eye... OMIM:607626
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Facial edema, Chei... ORPHA:293173
Sjögren-Larsson Syndrome
Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye ORPHA:816
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... OMIM:300918
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly ORPHA:384
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Immunodeficiency 103, Susceptibility To Fungal Infections
Deep dermatophytosis, Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis, Edema OMIM:615785
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Ichthyosis ORPHA:1954
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato... ORPHA:2199
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma OMIM:609180
Coxoauricular Syndrome
Microtia, Hearing impairment OMIM:122780
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy... OMIM:308800
Bone Marrow Failure Syndrome 4
Dry skin, Eczema, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:169154
Cutaneous Mastocytoma
Maculopapular exanthema, Pruritus, Thickened skin, Angioedema, Erythema, Scaling skin, Peau d'orange ORPHA:79455
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... OMIM:619208
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Dry skin OMIM:617920
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema OMIM:618985
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Severe Combined Immunodeficiency, X-Linked
Skin rash, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total ... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating IgE ... ORPHA:277
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash ORPHA:163525
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... ORPHA:2890
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis OMIM:618535
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis ORPHA:89838
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eczema OMIM:618523
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... OMIM:606367
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul... ORPHA:69126
Erythema Elevatum Diutinum
Skin rash, Skin vesicle, Increased circulating antibody level ORPHA:90000
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Atopic dermatitis, Decreased circulat... OMIM:619752
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis OMIM:616487
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali... ORPHA:454831
Congenital Ichthyosiform Erythroderma
Pruritus, Keratitis, Ichthyosis, Palmoplantar keratoderma, Erythroderma ORPHA:79394
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Dry skin, Fine hair, Hyperkeratosis, Fragile nails, Nail dystrophy, ... OMIM:601675
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Harlequin Ichthyosis
Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma ORPHA:457
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin OMIM:612379
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar... OMIM:604536
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... OMIM:243700
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Increased circulating IgE leve... ORPHA:2314
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Elevated circulating C... OMIM:614204
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Phenylketonuria
Scleroderma, Dry skin, Eczema OMIM:261600
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Microtia OMIM:612138
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis ORPHA:231
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Immunodeficiency 15A
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... OMIM:618204
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Hyperkeratosis... OMIM:610768
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin ORPHA:90156
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... OMIM:148700
Keratolytic Winter Erythema
Pustule ORPHA:50943
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Meier-Gorlin Syndrome 8
Microtia, Low-set ears OMIM:617564
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Diffuse Cutaneous Mastocytosis
Pruritus, Thickened skin, Scaling skin, Erythroderma, Peau d'orange ORPHA:79456
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... ORPHA:218
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Ichthyosis OMIM:618495
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... ORPHA:79501
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ... ORPHA:169160
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Periorbital ed... OMIM:618048
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increased circulating IgM le... ORPHA:83313
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Tempi Syndrome
Increased circulating IgG level, Ascites, Transudative pleural effusion, Facial erythema ORPHA:284227
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperk... OMIM:605676
Atelis Syndrome 1
Eczema, Dry skin, Bronchiectasis, Decreased lymphocyte proliferation in response to anti-CD3 OMIM:620184
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Reticular Dysgenesis
Chronic otitis media, Skin rash, Skin ulcer, Decreased circulating antibody level ORPHA:33355
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle ORPHA:158681
Lymphangiectasia, Intestinal
Abnormal hair morphology, Decreased circulating IgG level, Edema, Pedal edema OMIM:152800
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis, Ichthyosis ORPHA:3052
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch... OMIM:614700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Lichen Planopilaris
Pruritus, Hyperkeratosis, Hepatitis, Skin ulcer ORPHA:525
Igg4-Related Aortitis
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... ORPHA:449400
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod... ORPHA:48104
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased... OMIM:300861
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema, Abnormal immunoglobulin level ORPHA:90159
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Skin rash, Increased circulating IgA level, Pustule, Erythema, Inc... OMIM:615934
Agammaglobulinemia 8B, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... OMIM:619824
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform e... OMIM:613576
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi... OMIM:616576
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Darier-White Disease
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Mpdu1-Cdg
Scaling skin, Eczema, Elevated circulating creatine kinase concentration, Ichthyosis ORPHA:79323
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Immunodeficiency 53
Recurrent otitis media, Recurrent pneumonia, Skin rash OMIM:617585
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Insulin Autoimmune Syndrome
Acanthosis nigricans, Increased circulating antibody level ORPHA:411593
Prolidase Deficiency
Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Palmoplantar ke... ORPHA:742
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Leopard Syndrome 3
Posteriorly rotated ears, Epidermal hyperkeratosis, Sensorineural hearing impairment, Hyperkerato... OMIM:613707
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Increased cir... ORPHA:443811
Dermoodontodysplasia
Dry skin, Nail dysplasia, Trichodysplasia OMIM:125640
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Erythema, Increased circulat... OMIM:615816
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Hyperkeratosis, ... OMIM:614576
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin OMIM:129490
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... ORPHA:1010
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... OMIM:619510
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... ORPHA:79113
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Palmoplantar keratoderma, Scaling skin, Dry skin OMIM:618373
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Increased circulating IgE level, Atopic dermatitis ORPHA:2902
Omenn Syndrome
Pneumonia, Edema, Pruritus, Thickened skin, Thyroiditis, Erythroderma, Dry skin ORPHA:39041
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Decreased specific antibody response to... OMIM:617765
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Abnormal immunoglobulin level, Recurrent cutaneou... ORPHA:276
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic papule, Acne inversa ORPHA:79145
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Increased circulating IgE level, Eczema, Erythroderma OMIM:304790
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Petechiae, Increased circulating IgA level OMIM:313900
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Skin rash, Elevated circulating creatine kinase concentration, Recurrent sk... ORPHA:36234
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... OMIM:300291
Xeroderma Pigmentosum Variant
Keratitis, Dry skin ORPHA:90342
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Abnormality ... ORPHA:94059
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform... OMIM:308050
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... ORPHA:158668
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Acrocephalopolydactyly
Microtia ORPHA:221054
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Ichthyosis, Palmoplantar keratoderma, Hypoalbu... OMIM:242150
Wilson-Turner Syndrome
Microtia, Uplifted earlobe ORPHA:3459
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Abnormality of neutrophil physiology, Skin ulcer ORPHA:542592
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod... ORPHA:1660
Immunodeficiency 109 With Lymphoproliferation
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... OMIM:620282
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Myeloma, Multiple
Paraproteinemia OMIM:254500
3-Hydroxyisobutyric Aciduria
Microtia ORPHA:939
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Moynahan Syndrome
Hyperkeratosis, Sensorineural hearing impairment ORPHA:2574
Immunodeficiency 50
Eczema OMIM:300988
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Epidermal acanthosis, Skin rash, Elevated circulating C-reactive protein concentra... OMIM:612852
Immunodeficiency 104
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media OMIM:608971
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Ichthyosis, Tiger tail banding, Dry skin OMIM:616943
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro... OMIM:242100
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:619924
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas ORPHA:79452
Keratoderma Hereditarium Mutilans
Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyos... ORPHA:494
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Elastoderma
Erysipelas, Eczema ORPHA:228240
Riddle Syndrome
Pneumonia, Erythema, Recurrent pneumonia, Decreased circulating total IgM, Arthritis, Scaling ski... ORPHA:420741
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Microtia ORPHA:1703
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Angiostrongyliasis
Increased circulating IgA level, Pruritus, Increased circulating specific IgE antibody, Increased... ORPHA:74
Coxoauricular Syndrome
Microtia, Atresia of the external auditory canal, Hearing impairment ORPHA:1508
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Tubulointerstitial... ORPHA:139402
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot... ORPHA:229717
Mednik Syndrome
Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Ichthyosis ORPHA:171851
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Dry skin, Inflammatory abnormality... ORPHA:238468
Menke-Hennekam Syndrome 1
Short ear, Prominent inferior crus of antihelix, Protruding ear, Low-set ears, Overfolded helix, ... OMIM:618332
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti... ORPHA:85436
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Hemifacial Atrophy, Progressive
Microtia OMIM:141300
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ... ORPHA:35173
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves... ORPHA:330058
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule, Increased circulating antibody level ORPHA:48377
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Acanthosis nigricans, Dry skin ORPHA:3085
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis OMIM:618625
Short Stature And Facioauriculothoracic Malformations
Overfolded helix, Cupped ear, Microtia, Low-set ears OMIM:609654
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Dry skin, Low posterior hairline, Premature graying of hair, Alopecia of ... ORPHA:2617
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Skin rash ORPHA:1658
Catifa Syndrome
Microtia OMIM:618761
Ameloonychohypohidrotic Syndrome
Dry skin, Seborrheic dermatitis OMIM:104570
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato... OMIM:259100
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Microtia, Webbed neck ORPHA:2145
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Hepatitis, Skin ulcer, Cheilitis, Hyperkeratosis ORPHA:1334
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Noonan Syndrome 8
Eczema, Polyhydramnios, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa, Pleural effusion OMIM:615355
Hatipoglu Immunodeficiency Syndrome
Eczema, Thickened skin, Atopic dermatitis, Recurrent otitis media, Dry skin, Petechiae OMIM:620331
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Alopecia of scalp, Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear ORPHA:314647
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair, Ichthyosis ORPHA:177
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin OMIM:600906
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Pyoderma gangrenosum, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Dry skin, Fragile nails OMIM:617364
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Posteriorly rotated ears, Low-set ears, Protruding ear OMIM:614756
6Q16 Microdeletion Syndrome
Microtia, Low-set ears, Abnormal ear morphology ORPHA:171829
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Thickened skin, Hypoalbuminemia, Acne, Seborrheic dermatitis OMIM:614441
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Eczema, Ichthyosis ORPHA:3055
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Skin rash, Increased cir... OMIM:102700
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin... ORPHA:217017
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Parenti-Mignot Neurodevelopmental Syndrome
Cupped ear, Microtia, Posteriorly rotated ears, Low-set ears OMIM:619873
Pellagra-Like Syndrome
Skin rash OMIM:260650
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Dry skin, Hypoplasia of the ear cartilage ORPHA:1035
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased cir... OMIM:300635
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:2213
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Hyperkeratosis OMIM:136300
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
20P12.3 Microdeletion Syndrome
Thickened helices, Microtia ORPHA:261295
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circulating IgE leve... ORPHA:449432
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Pruritus, Hyperparakeratosis, ... ORPHA:182
Leishmaniasis
Rhinitis, Increased circulating antibody level, Pallor, Skin ulcer ORPHA:507
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Punctate palmoplantar hyperkeratosis,... ORPHA:69087
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Pustule, Acne ORPHA:530
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Patent ductus arteriosus, Microtia ORPHA:1597
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Microtia ORPHA:2547
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Eczema OMIM:620191
Immunodeficiency 22
Decreased circulating total IgM, Ascites, Decreased circulating IgE, Chronic oral candidiasis, De... OMIM:615758
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Defective production of NFKB1-dependent cytokines, Aplasia of the sweat glands... OMIM:612132
Complex Regional Pain Syndrome
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ... ORPHA:83452
Prolidase Deficiency
Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer, Increased circulating ... OMIM:170100
Parietal Foramina With Cleidocranial Dysplasia
Microtia OMIM:168550
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis, Pancolitis OMIM:612567
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Microtia, Low-set ears ORPHA:357175
Adiposis Dolorosa
Arthritis, Dry skin, Recurrent skin infections ORPHA:36397
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Microtia, Congenital nonbullous ichthyosiform erythroderma OMIM:275630
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... OMIM:616367
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Impaired T cell function, Paronychia, Alopecia of scalp, Perioral erythema, Dr... OMIM:201100
Paganini-Miozzo Syndrome
Microtia, Posteriorly rotated ears, Low-set ears OMIM:301025
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Microtia ORPHA:2994
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Gaucher Disease, Perinatal Lethal
Hyperkeratosis, Microtia, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Neonatal ... OMIM:608013
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections OMIM:620210
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:300946
Weiss-Kruszka Syndrome
Hearing impairment, Cupped ear, Protruding ear, Microtia, Low-set ears, Overfolded helix, Horizon... OMIM:618619
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:616029
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia OMIM:620137
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Microtia, Low-set ears ORPHA:171839
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Increased circulating IgE level, Increased circulating IgG level, Defective T c... OMIM:618213
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Lymphatic Malformation 12