Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Papule |
ORPHA:1336 |
Acrokeratosis Verruciformis |
|
Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hype... |
OMIM:101900 |
Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Thickened skin, Plantar pits, Abnormality of skin p... |
ORPHA:218 |
Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Hyperkeratosis, Papule |
ORPHA:315 |
Acral Peeling Skin Syndrome |
|
Macule, Erythema, Papule, Scaling skin, Ichthyosis, Skin erosion, Hyperpigmentation of the skin, ... |
ORPHA:263534 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... |
OMIM:617571 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Insulin-Resistance Syndrome Type A |
|
Subcutaneous nodule, Hyperkeratosis, Generalized hyperpigmentation |
ORPHA:2297 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Erythema m... |
ORPHA:158681 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis, Milia |
OMIM:131800 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Papule |
OMIM:244850 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
Reticulate Acropigmentation Of Kitamura |
|
Macule, Hyperkeratosis |
OMIM:615537 |
Dowling-Degos Disease |
|
Hypopigmented macule, Inguinal freckling, Epidermoid cyst, Mixed hypo- and hyperpigmentation of t... |
ORPHA:79145 |
Dowling-Degos Disease 4 |
|
Papule, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali... |
OMIM:607602 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hyperkeratotic... |
ORPHA:737 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Epidermal acanthosis, Skin plaque |
ORPHA:464318 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spo... |
ORPHA:79399 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke... |
OMIM:607936 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Hypopigmented streaks |
ORPHA:254478 |
Idiopathic Localized Lipodystrophy |
|
Erythema, Scaling skin, Scleroderma, Morphea, Hypopigmentation of the skin, Hyperpigmentation of ... |
ORPHA:90158 |
Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Skin-colored papule, Cutis laxa, Hyperkeratotic papule, Erythematous papule... |
ORPHA:79148 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... |
OMIM:145250 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform... |
OMIM:113800 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis, Skin nodule, Verrucous papule |
ORPHA:139414 |
Infantile Digital Fibromatosis |
|
Skin nodule, Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin |
OMIM:602723 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophic ... |
ORPHA:89838 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy... |
OMIM:612281 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Palm... |
ORPHA:530838 |
Lupus Erythematosus Tumidus |
|
Urticarial plaque, Depigmentation/hyperpigmentation of skin, Erythematous plaque, Annular cutaneo... |
ORPHA:90283 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Honeycomb palmop... |
ORPHA:79395 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Hyperkeratosis, Hypermelanotic macule,... |
ORPHA:69125 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplanta... |
ORPHA:64745 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Dyschromatosis Universalis Hereditaria |
|
Macule, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe... |
ORPHA:241 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin |
OMIM:618084 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Abnormal epidermal morphology, Erythema, Periauricular skin pits... |
ORPHA:79100 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Bazex Syndrome |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans, Lip ... |
ORPHA:166113 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hype... |
ORPHA:38 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... |
OMIM:604777 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Ret... |
ORPHA:79397 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expressi... |
OMIM:247100 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Familial Reactive Perforating Collagenosis |
|
Erythematous papule, Abnormal epidermal morphology, Hyperkeratotic papule, Spotty hyperpigmentation |
ORPHA:79147 |
Pemphigus Foliaceus |
|
Acantholysis, Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesi... |
ORPHA:79481 |
Cutaneous Mastocytoma |
|
Macule, Hypermelanotic macule, Hyperpigmented papule, Thickened skin, Skin nodule, Erythema, Eryt... |
ORPHA:79455 |
Acral Self-Healing Collodion Baby |
|
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hyperpigmentation |
ORPHA:2812 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar sc... |
ORPHA:100976 |
Palmoplantar Keratoderma, Nonepidermolytic |
|
Nonepidermolytic palmoplantar hyperkeratosis |
OMIM:600962 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Atrophic sca... |
ORPHA:79410 |
Ulerythema Ophryogenesis |
|
Erythematous papule, Hyperkeratotic papule, Facial erythema, Dermal atrophy, Follicular hyperkera... |
ORPHA:3406 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic hyperkeratosis, Palmoplan... |
ORPHA:498359 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:613102 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthok... |
OMIM:617525 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Mal De Meleda |
|
Epidermal acanthosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar kerato... |
ORPHA:87503 |
Cole Disease |
|
Hypopigmented macule, Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis... |
OMIM:615522 |
Peeling Skin Syndrome 3 |
|
Erythema, White scaling skin |
OMIM:616265 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macule, Scaling skin, Freckling, D... |
OMIM:618373 |
Wells Syndrome |
|
Skin vesicle, Edema |
ORPHA:901 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Mottled pigmentation, Acrokeratosis |
OMIM:620199 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate... |
ORPHA:79151 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
OMIM:148600 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin, Ichthyosis |
OMIM:146700 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Hypopigmented macule, Generalized hyperpigmentation, Dry skin, Hypermelanotic macule |
OMIM:617920 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Macule, Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Dermatitis Herpetiformis |
|
Macule, Skin vesicle, Erythema, Edema |
ORPHA:1656 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato... |
ORPHA:2199 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Epidermal acanth... |
OMIM:133200 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling... |
OMIM:616295 |
Acquired Ichthyosis |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin, Papule |
ORPHA:454 |
Iga Pemphigus |
|
Acantholysis, Annular cutaneous lesion, Skin vesicle, Skin erosion, Skin plaque |
ORPHA:555905 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyp... |
ORPHA:2269 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Atrophic scars |
OMIM:131850 |
Darier-White Disease |
|
Hypermelanotic macule, Acrokeratosis, Acantholysis, Palmar pits, Plantar pits, Subungual hyperker... |
OMIM:124200 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Basan Syndrome |
|
Milia, Palmoplantar keratoderma, Epidermal acanthosis, Hypermelanotic macule |
OMIM:129200 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper... |
OMIM:300918 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis |
OMIM:615022 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis, Psoriasiform lesion, Intermittent generalized erythematous papular rash, Erythemat... |
ORPHA:284426 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule |
ORPHA:89843 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... |
OMIM:614457 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... |
OMIM:173200 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Acute Generalized Exanthematous Pustulosis |
|
Acantholysis, Scaling skin, Skin vesicle, Hyperpigmentation of the skin, Purpura |
ORPHA:293173 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... |
ORPHA:312 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Ichthyosis With Confetti |
|
Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Icht... |
OMIM:609165 |
Classic Mycosis Fungoides |
|
Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyperkeratosis, Irregular hyperpig... |
ORPHA:2584 |
Acute Radiation Syndrome |
|
Skin ulcer, Hyperkeratosis, Scaling skin, Dermal atrophy, Hypopigmentation of the skin, Hyperpigm... |
ORPHA:454831 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:79503 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin, Dermal atrophy |
OMIM:617294 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... |
OMIM:148700 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic scars, Palmoplantar kerato... |
ORPHA:79402 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule |
ORPHA:525 |
Hypotrichosis Simplex Of The Scalp |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin |
ORPHA:90368 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Plantar hyperkeratosis, Epidermal hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema... |
OMIM:104100 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Erythrokeratodermia Variabilis |
|
Macule, Hypermelanotic macule, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Irre... |
ORPHA:317 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Porphyria Variegata |
|
Thickened skin, Localized skin lesion, Skin vesicle, Skin erosion, Hypopigmentation of the skin, ... |
ORPHA:79473 |
Proteus Syndrome |
|
Epidermal nevus, Epidermal acanthosis, Depigmentation/hyperpigmentation of skin, Hyperkeratosis, ... |
OMIM:176920 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Dry skin, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
Pyoderma Gangrenosum |
|
Skin vesicle, Atrophic scars, Papule, Skin ulcer |
ORPHA:48104 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Mottle... |
OMIM:131960 |
Hennekam-Beemer Syndrome |
|
Macule, Generalized hyperpigmentation, Thickened skin, Erythema, Subcutaneous nodule, Abnormality... |
ORPHA:2135 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Striate Palmoplantar Keratoderma |
|
Palmoplantar keratoderma |
ORPHA:50942 |
Keratosis Palmoplantaris Striata Iii |
|
Palmoplantar keratoderma |
OMIM:607654 |
Uv-Sensitive Syndrome 3 |
|
Freckling, Dry skin |
OMIM:614640 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Familial Keratoacanthoma |
|
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Hyperkeratosis, Ich... |
ORPHA:816 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:610227 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Papule, Dehydration |
OMIM:616069 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
Warty Dyskeratoma |
|
Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localized skin lesion, Epid... |
ORPHA:69745 |
Vulvovaginal Gingival Syndrome |
|
Skin erosion, Parakeratosis, Erythema, Epidermal acanthosis |
ORPHA:83453 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Erythematous plaque |
OMIM:618531 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Drug-Induced Localized Lipodystrophy |
|
Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Thickened skin, Palmoplantar keratoderma, Ichthyosis, Irregular hyperpi... |
ORPHA:2897 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:615023 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk... |
OMIM:619208 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Freckling, Melanocytic nevus |
ORPHA:1573 |
Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis, Annular cutaneous lesion, Psoriasiform lesion, Dermal atrophy |
ORPHA:163525 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Generalized ichthyosis, Follicular hyperkeratosis, Hyperpigmentation of the... |
OMIM:608649 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Subcutaneous nodule |
OMIM:618339 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin |
OMIM:609180 |
Diffuse Cutaneous Mastocytosis |
|
Thickened skin, Skin erosion, Scaling skin, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Erythematous papule, Epidermal acanthosis, Hypopigmented skin patches |
ORPHA:330064 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Scarring alopecia of scalp, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperke... |
OMIM:602540 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Lamellar Ichthyosis |
|
Hyperkeratosis, Dry skin, Lack of skin elasticity, Dehydration |
ORPHA:313 |
Chromomycosis |
|
Erythematous macule, Hyperparakeratosis, Subcutaneous nodule, Hypopigmented skin patches, Verruco... |
ORPHA:182 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Papule, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Reticular Dysgenesis |
|
Skin ulcer, Dehydration |
ORPHA:33355 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Acantholysis |
ORPHA:704 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis |
ORPHA:505 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Nevus, Vitiligo |
OMIM:193200 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythr... |
OMIM:242300 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P... |
OMIM:605676 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Numerous nevi, Epidermal hyperkeratosis, Hyperkeratosis, Multiple lentigi... |
OMIM:613707 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Abnormality of skin pigmentation, Thin skin, Purpura |
ORPHA:743 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation, Aplasia/Hypoplasia of the skin, Thin skin, Purpura |
ORPHA:745 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro... |
OMIM:242100 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Dermal atrophy, Dry skin, Hypopigmentation of the skin, Hyperpigme... |
ORPHA:90342 |
Chilblain Lupus |
|
Hyperkeratosis, Erythematous papule, Skin ulcer |
ORPHA:90280 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Dyskeratosis Congenita |
|
Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, White hair, Hypopigmented skin pat... |
ORPHA:1775 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism |
ORPHA:2786 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H... |
ORPHA:79431 |
Centrifugal Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90156 |
Familial Cold Urticaria |
|
Erythema, Dehydration |
ORPHA:47045 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin vesicle, Papule, Skin ulcer |
ORPHA:2314 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
Mpdu1-Cdg |
|
Erythematous plaque, Scaling skin, Ichthyosis |
ORPHA:79323 |
Hidrotic Ectodermal Dysplasia |
|
Hypopigmentation of hair, Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkera... |
ORPHA:189 |
Hypotrichosis 6 |
|
Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Dermal atrophy |
OMIM:136300 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Peeling Skin Syndrome 1 |
|
Scaling skin |
OMIM:270300 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Abnormality of skin pigmentation, Atrophic scars, Palmoplantar keratoderma, Aplasia... |
ORPHA:79411 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Sweet Syndrome |
|
Skin nodule, Pyoderma gangrenosum, Erythematous plaque, Skin vesicle, Erythematous papule |
ORPHA:3243 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Facial erythema, Palmoplantar keratoderma, Scaling skin, Skin fissure, Dry skin, Sclerodactyly |
ORPHA:1010 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Palmoplantar keratoderma, Weight loss |
ORPHA:2198 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Dehydration |
ORPHA:457 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Tachycardia, Skin rash, Heart block, Elevated ... |
ORPHA:542323 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:616029 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Erythema, Skin ulcer, Hyperk... |
ORPHA:742 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, White ha... |
ORPHA:79435 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Verrucous papule, Palmoplan... |
ORPHA:79501 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Erythematous plaque, Scaling skin, Ichthyosis |
ORPHA:35173 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Blue nevus, Absent skin pigmentation, Blue irides, Red... |
ORPHA:79433 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Scarring alopecia of scalp, Facial erythema, Palmoplantar keratoderma, Follicular hyperkeratosis,... |
OMIM:308800 |
Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Skin erosion, Aplasia cutis congenita, Acantholysis |
OMIM:609638 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Familial Melanoma |
|
Freckling, Dry skin, Nevus |
ORPHA:618 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Follicular hyperkeratosis |
ORPHA:300179 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Edema, Elevated circulating C-reactive protein concentr... |
ORPHA:324964 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation, Skin nodule, Papule |
ORPHA:53296 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop... |
OMIM:614594 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
Kid Syndrome |
|
Epidermal acanthosis, Scarring alopecia of scalp, Skin nodule, Congenital ichthyosiform erythrode... |
ORPHA:477 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Edema, Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic ... |
ORPHA:2070 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Ramon Syndrome |
|
Hyperkeratosis, Abnormality of retinal pigmentation |
ORPHA:3019 |
Fixed Drug Eruption |
|
Erythema, Erythematous plaque, Skin erosion, Skin detachment, Hyperpigmentation of the skin |
ORPHA:293812 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Hyperkeratosis, Skin ulcer |
ORPHA:1806 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Chikungunya |
|
Macule, Erythema, Depigmentation/hyperpigmentation of skin, Skin vesicle, Petechiae |
ORPHA:324625 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Multiple cafe-au-lait spots, Follicular hyperkeratosis |
ORPHA:1809 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Porphyria Cutanea Tarda |
|
Hypopigmentation of the skin, Scaling skin, Hyperpigmentation of the skin |
ORPHA:101330 |
Recon Progeroid Syndrome |
|
Dry skin, Scaling skin, Thin skin |
OMIM:620370 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
Immunodeficiency 58 |
|
Atrophic scars, Psoriasiform lesion, Scaling skin, Ichthyosis |
OMIM:618131 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin, Thickened skin, Lack of skin elasticity, Abnormality of skin pigm... |
ORPHA:1979 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Splenomegaly, Weight loss |
ORPHA:86893 |
Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin, Subcutaneous nodule, Papule |
ORPHA:530 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration |
OMIM:214150 |
Pachyonychia Congenita |
|
Epidermoid cyst, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratode... |
ORPHA:2309 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increased circulating IgG level, Inc... |
OMIM:209950 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Hypoproteinemia, Edema, Pericardial effusion, Decre... |
ORPHA:90362 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:615225 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation |
ORPHA:2222 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Pustule, Hyperkalemia, Atopic dermatitis, Dehydration... |
ORPHA:171876 |
Chronic Graft Versus Host Disease |
|
Thickened skin, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer, Abnorma... |
ORPHA:99921 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ... |
ORPHA:69087 |
Graft Versus Host Disease |
|
Skin erosion, Scaling skin, Cutaneous sclerotic plaque, Lichenoid skin lesion |
ORPHA:39812 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... |
OMIM:193510 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperpigmentation of the skin |
OMIM:615355 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Subcutaneous nodule, Hypopigmented skin patches, Abnormality ... |
ORPHA:626 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, Melanocy... |
ORPHA:79434 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis |
OMIM:615508 |
Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
Netherton Syndrome |
|
Dry skin, Dehydration |
ORPHA:634 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology, Nevus |
ORPHA:398189 |
Psoriasis 14, Pustular |
|
Parakeratosis, Erythema, Epidermal acanthosis |
OMIM:614204 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Arrhythmia, Congestive heart failure, Cachexia |
ORPHA:157973 |
Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle, Palpebral edema |
ORPHA:99843 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Incr... |
ORPHA:507 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... |
ORPHA:398063 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Follicular hyperkeratosis |
OMIM:615147 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
Follicular Lymphoma |
|
Splenomegaly, Pleural effusion, Weight loss, Lymphedema |
ORPHA:545 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Palmoplantar hyperkerato... |
OMIM:257980 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Verrucous papule |
ORPHA:2611 |
Costello Syndrome |
|
Generalized hyperpigmentation, Redundant skin, Lack of skin elasticity, Hyperkeratosis, Acanthosi... |
ORPHA:3071 |
Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Propionic Acidemia |
|
Dehydration |
OMIM:606054 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus... |
ORPHA:98850 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss |
ORPHA:79238 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration |
OMIM:560000 |
Hypohidrotic Ectodermal Dysplasia |
|
Hyperkeratosis, Thin skin, Generalized hypopigmentation of hair, Irregular hyperpigmentation, Dry... |
ORPHA:238468 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Weight loss |
ORPHA:248111 |
Takayasu Arteritis |
|
Hypertensive crisis, Myocardial infarction, Vasculitis, Weight loss, Hypertension, Cerebral ische... |
ORPHA:3287 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Naxos Disease |
|
Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis... |
OMIM:601214 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l... |
ORPHA:767 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Weight loss, Hypertro... |
ORPHA:330001 |
Pleural Mesothelioma |
|
Pleural effusion, Abnormal cardiovascular system physiology, Weight loss |
ORPHA:50251 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Epidermal acanthosis, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis |
ORPHA:158668 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin |
OMIM:606367 |
Rheumatoid Arthritis |
|
Joint swelling, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss |
ORPHA:85447 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Thickened skin, Subcutaneous nodule, Skin ulcer, Scaling ski... |
ORPHA:2526 |
Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoal... |
ORPHA:2494 |
Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Localized skin lesion, Scaling skin |
ORPHA:36234 |
Meige Disease |
|
Skin ulcer, Atypical scarring of skin, Skin dimple, Cobblestone-like hyperkeratosis, Skin erosion |
ORPHA:90186 |
Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Dehydration |
ORPHA:134 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Psoriasiform lesion, Vitiligo |
OMIM:614700 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... |
ORPHA:2902 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Reticular hyperpigmentation, Hyperkeratosis, Palmoplantar keratoderma, De... |
OMIM:604173 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Weight loss, Anemia, Agammaglobulinemia, Hypoca... |
ORPHA:47 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Miscarriage, Transient ischemic attack, Pruritus, Splenomegaly, Chronic m... |
ORPHA:71493 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... |
ORPHA:94080 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Acne, Edema, Congenital hypoplastic anemia, Pustule, Spleno... |
ORPHA:77297 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation, Thin skin |
ORPHA:1810 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Reticular hyperpigmentation, Generalized reticulate brown pigmentation |
OMIM:301220 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion |
ORPHA:169154 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Dry skin, Ichthyosis |
OMIM:610768 |
Chronic Mucocutaneous Candidiasis |
|
Papule, Hyperkeratosis, Erythema, Skin ulcer |
ORPHA:1334 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Oligohydramnios |
OMIM:208085 |
Cystinosis |
|
Dehydration |
ORPHA:213 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Xeroderma Pigmentosum |
|
Macule, Hypermelanotic macule, Thickened skin, Erythema, Hypopigmented skin patches, Melanocytic ... |
ORPHA:910 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... |
ORPHA:85443 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Calcinosis, Skin rash, Palpebral ... |
ORPHA:93672 |
Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Death in early adulthood, Cerebellar atrophy, Cachexia |
ORPHA:85278 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Weight loss, Hypotension, Arrhythmia, Pleur... |
ORPHA:188 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Hypermelanotic macule |
OMIM:246200 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive, Anemia |
ORPHA:1842 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hypokalemia, Palpitations, Weight loss |
OMIM:188580 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema |
ORPHA:3165 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Hyperammonemia, Weight loss, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Alexander Disease Type I |
|
Cerebellar atrophy, Failure to thrive, Cachexia |
ORPHA:363717 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Freckling, Epidermal hyperkeratosis |
OMIM:137940 |
Parkes Weber Syndrome |
|
Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer |
ORPHA:90307 |
Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Cachexia |
OMIM:618093 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Ski... |
ORPHA:902 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial h... |
ORPHA:3226 |
Trichothiodystrophy 1, Photosensitive |
|
Hyperkeratosis, Dry skin, Freckling, Congenital nonbullous ichthyosiform erythroderma |
OMIM:601675 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Restrictive Dermopathy |
|
Epidermal hyperkeratosis, Scaling skin, Dermal atrophy, Skin erosion, Generalized hyperkeratosis,... |
ORPHA:1662 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Thickened skin, Ocular albinism, Melanocytic nevus, H... |
ORPHA:79430 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Skin ulcer, Iris hypopigmentation |
ORPHA:834 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Edema, Dehydration |
ORPHA:20 |
Wolcott-Rallison Syndrome |
|
Ascites, Dehydration |
ORPHA:1667 |
Classic Hodgkin Lymphoma |
|
Pruritus, Splenomegaly, Skin rash, Weight loss |
ORPHA:391 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Failure to thrive, Chilblains, Edema, Portal hypertension, Perica... |
OMIM:619487 |
Peripheral Primitive Neuroectodermal Tumor |
|
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Pruri... |
ORPHA:370348 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Cardiofaciocutaneous Syndrome |
|
Generalized hyperpigmentation, Redundant skin, Excessive wrinkled skin, Hyperkeratosis, Palmoplan... |
ORPHA:1340 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Skin rash, Chilblains, Edema, Pericardial eff... |
OMIM:615846 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema, Parakeratosis |
OMIM:256500 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Cutis laxa, Abnormality of skin pigmentation, Atypical scarring of skin, Atrophic scars, Thin skin |
ORPHA:75496 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Dry skin, Scaling skin |
OMIM:618419 |
Amoebiasis Due To Entamoeba Histolytica |
|
Congestive heart failure, Leukocytosis, Weight loss, Pleural empyema, Hypoalbuminemia, Constricti... |
ORPHA:67 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis |
OMIM:615279 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Neonatal Lupus Erythematosus |
|
Hyperkeratosis, Parakeratosis, Erythematous plaque |
ORPHA:398124 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Scarring alopecia of scalp |
OMIM:617337 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Epidermal acanthosis, Epidermal nevus, Erythema, Hyperkeratosis, Congenital ichthy... |
OMIM:308050 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Wilson Disease |
|
Pruritus, Splenomegaly, Increased body weight, Weight loss, Anemia, Joint swelling, Failure to th... |
ORPHA:905 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Splenomegaly, Congestive heart failure, Increased circulating ferritin conce... |
ORPHA:465508 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Erythema, Scaling skin |
ORPHA:294023 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Riddle Syndrome |
|
Erythema, Scaling skin |
ORPHA:420741 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss |
OMIM:617321 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Cachexia, Neonatal death, Polyhydramnios |
OMIM:618186 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Dry skin |
OMIM:614576 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Pseudomyxoma Peritonei |
|
Ascites, Weight loss |
ORPHA:26790 |
Cholera |
|
Palmoplantar cutis laxa, Dehydration |
ORPHA:173 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Weight loss, Skin rash, Lymphedema |
ORPHA:33276 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve... |
ORPHA:3208 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Hyperkeratosis, Scaling ski... |
OMIM:308205 |
Restrictive Dermopathy 1 |
|
Skin erosion, Scaling skin, Thin skin, Epidermal hyperkeratosis |
OMIM:275210 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Hypokalemia, Weight loss |
OMIM:613239 |
Noonan Syndrome 2 |
|
Hyperkeratosis, Nevus, Palmoplantar cutis laxa, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:605275 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss, Increased circulating antibody level, Chronic oral candid... |
ORPHA:723 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor, Hydrops fetalis, Dehydration |
OMIM:557000 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:160 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Monoclonal elevation of circulating IgA, Myocardial in... |
ORPHA:91139 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Cachexia, Anemia, Weight loss |
ORPHA:298 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Pruritus, Spl... |
ORPHA:98849 |
Mycetoma |
|
Subcutaneous nodule, Cobblestone-like hyperkeratosis, Cutaneous cyst |
ORPHA:2583 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Pulmonary venou... |
ORPHA:90060 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Ascites, Anemia, Weight loss |
ORPHA:83469 |
Poems Syndrome |
|
Edema, Pericardial effusion, Abnormality of skin physiology, Weight loss, Pulmonary arterial hype... |
ORPHA:2905 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Erythema, Abnormality of skin pigmentation, Hyperkeratosis, Atypi... |
ORPHA:2908 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Angioedema, Weight loss, Lymphocyt... |
ORPHA:139402 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:612852 |
Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:616564 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis |
OMIM:615726 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decreased plasma to... |
ORPHA:42 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration |
OMIM:125800 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration |
OMIM:304800 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Weight loss, Lymphocytosis, Hypochromi... |
ORPHA:514 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Weight loss |
OMIM:191390 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, Heart murmur, We... |
ORPHA:100085 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Weight loss |
ORPHA:157941 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Weight loss |
ORPHA:54251 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss |
ORPHA:399 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Rat-Bite Fever |
|
Scaling skin |
ORPHA:31205 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
Incontinentia Pigmenti |
|
Erythema, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation, Hyperkeratosi... |
ORPHA:464 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:42642 |
Arthrogryposis And Ectodermal Dysplasia |
|
Atypical scarring of skin, Hyperkeratosis, Dry skin |
OMIM:601701 |
Shigellosis |
|
Dehydration, Purpura |
ORPHA:810 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ele... |
ORPHA:49041 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Petechiae, Purpura |
OMIM:608013 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Weight loss |
OMIM:275000 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Wolman Disease |
|
Cachexia, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration, Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure... |
OMIM:619377 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Failure to thrive, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow foam cel... |
ORPHA:275761 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration,... |
ORPHA:90003 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Skin rash, Elevated circulating C-reactive pro... |
OMIM:301074 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Few cafe-au-lait spots, Sacral dimple, Erythema, Facial erythema, Cutis laxa, Scaling skin, Ichth... |
OMIM:619503 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope... |
ORPHA:37042 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Skin rash, Eosinophilia, Myocardial infarction, Transient is... |
ORPHA:183 |
Q Fever |
|
Pericarditis, Maculopapular exanthema, Pericardial effusion, Thrombocytopenia, Splenomegaly, Vasc... |
ORPHA:781 |
Benign Recurrent Intrahepatic Cholestasis |
|
Pruritus, Weight loss |
ORPHA:65682 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thrombocytopenia, Leuk... |
ORPHA:824 |
Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Skin nodule, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Dermal atrop... |
OMIM:601812 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Hyperkeratosis, Erythema, Pallor |
OMIM:308300 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Fai... |
OMIM:212750 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Subcutaneous nodule, Papule |
ORPHA:79280 |
Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia |
ORPHA:97229 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Weight loss, Melena, Palpitations, Hypotensio... |
ORPHA:100080 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... |
ORPHA:276621 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Cachexia, Splenom... |
ORPHA:3452 |
Toxic Epidermal Necrolysis |
|
Macule, Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Anemia, Lymphedema |
ORPHA:2930 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli... |
ORPHA:85450 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Oligomeganephronia |
|
Dehydration |
ORPHA:2260 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:411703 |
Cardiofaciocutaneous Syndrome 1 |
|
Numerous nevi, Hyperkeratosis, Multiple lentigines, Ichthyosis, Hyperpigmentation of the skin |
OMIM:115150 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Nevus |
OMIM:620189 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Weight loss, Chiari type I malformation, Syncope, Bradycardia |
ORPHA:221098 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Gm1 Gangliosidosis |
|
Splenomegaly, Patent ductus arteriosus, Congestive heart failure, Hydrops fetalis, Hepatosplenome... |
ORPHA:354 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Palpebral edema, Elevated circulating C-reactive protein concentration, Pruritus, Pust... |
ORPHA:50918 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Hyperc... |
ORPHA:199299 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio... |
ORPHA:100082 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis |
OMIM:133190 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Edema, Skin erosion, Dehydration, Aplasia cutis congenita, Skin plaque |
ORPHA:79404 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperkeratosis, Multiple lentigines, Ichthyosis, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:607721 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Xfe Progeroid Syndrome |
|
Cachexia, Death in adolescence, Hypertension, Ascites, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Bethlem Myopathy |
|
Hyperkeratosis, Cigarette-paper scars |
ORPHA:610 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration |
ORPHA:79282 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis, Weight loss, Anemia, Leukopen... |
ORPHA:520 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:1005 |
Milroy Disease |
|
Hyperkeratosis |
ORPHA:79452 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Iron defic... |
ORPHA:100078 |
Idiopathic Bronchiectasis |
|
Cachexia, Myocardial infarction |
ORPHA:60033 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, H... |
ORPHA:95409 |
Vipoma |
|
Ascites, Erythema, Dehydration |
ORPHA:97282 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis, Nevus, Generalized hypopigmentation, Dry skin |
ORPHA:1896 |
Cap Polyposis |
|
Hematochezia, Weight loss |
ORPHA:160148 |
Lethal Acantholytic Erosive Disorder |
|
Acantholysis |
ORPHA:158687 |
Felty Syndrome |
|
Pericarditis, Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thr... |
ORPHA:47612 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Abnormality of body weight, Increased circul... |
ORPHA:2298 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormality of skin pigmentation |
OMIM:225050 |
Stevens-Johnson Syndrome |
|
Macule, Erythema, Acantholysis |
ORPHA:36426 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Weight loss, Melena, Iron defici... |
ORPHA:100075 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Weight loss, Palpitations, Facial telangiecta... |
ORPHA:97287 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Weight loss, Isch... |
ORPHA:679 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Joint swelling, Skin ulcer, Dehydration |
ORPHA:534 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Caroli Disease |
|
Portal hypertension, Pruritus, Splenomegaly, Leukocytosis, Conjugated hyperbilirubinemia, Abnorma... |
ORPHA:53035 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Skin nodule, Penetrating foot ulcers, Verrucous papule, ... |
ORPHA:548 |
Brucellosis |
|
Pericarditis, Miscarriage, Transient ischemic attack, Small for gestational age, Elevated circula... |
ORPHA:1304 |
Pearson Syndrome |
|
Corneal stromal edema, Cafe-au-lait spot, Hydrops fetalis, Dehydration |
ORPHA:699 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Weight loss, Ascites |
ORPHA:131 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Alveolar Echinococcosis |
|
Eosinophilia, Portal hypertension, Pedal edema, Weight loss, Abnormal spleen morphology, Increase... |
ORPHA:284 |
Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, O... |
ORPHA:79102 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Inflammatory abnormality of the ... |
ORPHA:48435 |
Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
Microsporidiosis |
|
Skin nodule, Dehydration |
ORPHA:2552 |
Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis, Hypomelanotic macule |
OMIM:617052 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive |
ORPHA:79128 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... |
ORPHA:99867 |
Cowden Syndrome |
|
Macule, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratode... |
ORPHA:201 |
Waardenburg Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... |
ORPHA:3440 |
Nephroblastoma |
|
Hypertension, Weight loss |
ORPHA:654 |
Infantile Nephropathic Cystinosis |
|
Dehydration |
ORPHA:411629 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Recurrent skin infections, Skin rash, Decreased circulatin... |
OMIM:619381 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Polyhydramnios |
ORPHA:2774 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Edema, Weight loss |
ORPHA:33577 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Dermal atrophy |
OMIM:278800 |
Erdheim-Chester Disease |
|
Skin rash, Abnormal cerebellum morphology, Congestive heart failure, Weight loss, Joint swelling,... |
ORPHA:35687 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios |
ORPHA:223 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Dehydration, Oligohydramnios |
ORPHA:96191 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... |
ORPHA:29072 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Woodhouse-Sakati Syndrome |
|
Scaling skin |
ORPHA:3464 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Skin rash, Epista... |
ORPHA:900 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Hyperkeratosis, Ichthyosis |
OMIM:148210 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss, Hypertension, Hypokalemia, Palpitations |
ORPHA:1501 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypotension, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:361 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Pruritus, Splenomegaly, C... |
ORPHA:171 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Mandibuloacral Dysplasia |
|
Acanthosis nigricans, Abnormality of skin pigmentation, Thin skin |
ORPHA:2457 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischemia, Arrhyt... |
ORPHA:397 |
Distal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:18 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Weight loss |
ORPHA:2126 |
Chime Syndrome |
|
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis |
ORPHA:3474 |
Cystic Echinococcosis |
|
Eosinophilia, Weight loss, Increased circulating antibody level, Hyperbilirubinemia, Splenic cyst |
ORPHA:400 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform lesion |
ORPHA:85436 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
Juvenile Nephropathic Cystinosis |
|
Dehydration |
ORPHA:411634 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Obesity, Weight loss |
ORPHA:251071 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation |
OMIM:613988 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Pustule, Weight loss, Joint swelling, Hyperkeratosis |
ORPHA:29207 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Yellow papule, Cutis laxa |
OMIM:264800 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Elevated circulating deoxyuridine concentration, Cachexia, Weight loss,... |
OMIM:603041 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
Multiple Endocrine Neoplasia Type 1 |
|
Large cafe-au-lait macules with irregular margins, Confetti-like hypopigmented macules, Dehydration |
ORPHA:652 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death, Weight loss |
ORPHA:764 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Numerous nevi, Sacral dimple, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Fair hair, Hypopigme... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Numerous nevi, Sacral dimple, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Fair hair, Hypopigme... |
ORPHA:363958 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Patent ductus arteriosus, Hematochezia,... |
ORPHA:79076 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia |
ORPHA:93941 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Thiamine-responsive mega... |
ORPHA:85138 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:97289 |
Marburg Hemorrhagic Fever |
|
Petechiae, Dehydration |
ORPHA:99826 |
Lymphatic Filariasis |
|
Hyperkeratosis, Hyperpigmentation of the skin |
ORPHA:2035 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Anemia |
ORPHA:71273 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:601678 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Eczema, ... |
OMIM:614162 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Weight loss |
OMIM:137440 |
Cystinosis, Nephropathic |
|
Dehydration |
OMIM:219800 |
Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Abno... |
ORPHA:567983 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia |
ORPHA:52503 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Hepatosplenomegal... |
ORPHA:576 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyperkeratosis, Palmoplan... |
OMIM:225400 |
Aredyld Syndrome |
|
Splenomegaly, Cachexia |
ORPHA:1133 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Patchy hypo- and hyperpigmen... |
ORPHA:79474 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Death in infancy, Death in early adulthood, Weight loss |
ORPHA:144 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:241200 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Skin rash, Hypercalcemia, Acanthocytosis, Pruritus, Weight loss, Nor... |
ORPHA:97280 |
Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Thickened skin, Abnormality of dermal melanosomes, Depigmentation/hyperpigmentation of skin, Epid... |
ORPHA:73223 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval, Cachexia |
OMIM:312750 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Acrodermatitis Enteropathica |
|
Pustule, Failure to thrive, Weight loss |
ORPHA:37 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acantholysis, Skin ulcer, Atypical scarring of skin, Hypopigmentation of the skin, Hyperpigmentat... |
ORPHA:95455 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Atrophic scars, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Abnormal cerebellum morphology, Cachexia |
ORPHA:300605 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Acne, Myocardial infarction, Pul... |
ORPHA:117 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Pericarditis, Eosinophilia, Increased circulating IgG4 leve... |
ORPHA:449395 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
Proximal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:47159 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Increased pulmonary vascular resistance, Abnormal circulating calcium ... |
ORPHA:60025 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mitral regurgitation, Dilated cardiomyopathy, Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Fanconi Anemia, Complementation Group A |
|
Abnormality of skin pigmentation, Cafe-au-lait spot, Anemic pallor |
OMIM:227650 |
Ramon Syndrome |
|
Hyperkeratosis, Pigmentary retinopathy |
OMIM:266270 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Abnormal circulating creatine concentration, Weight loss |
ORPHA:440437 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Infantile Krabbe Disease |
|
Abnormal heart rate variability, Failure to thrive, Cachexia |
ORPHA:206436 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Blue irides, Hyperkeratosis, Thin skin, Generalized hypopigmentation, Fair hair |
OMIM:129900 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hyponatremia, Miscarriage, Acne, Hypovolemia, Hyperkalemia, Dehydration, Weight loss, Hypo... |
ORPHA:90794 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi... |
OMIM:164310 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Skin rash, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:91500 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... |
OMIM:608710 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... |
ORPHA:91347 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Ascites |
ORPHA:97283 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:97286 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Cachexia, Lymphedema, Telangiectasia, Intracranial hemorrhage |
ORPHA:109 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Facial edema,... |
ORPHA:79078 |
Sarcoidosis |
|
Hemolytic anemia, Abnormal cardiac ventricular function, Maculopapular exanthema, Eosinophilia, P... |
ORPHA:797 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Nevus |
ORPHA:276280 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Elevated circulating creatine kinase concentration, Polyhydramnios, Cachexia, D... |
ORPHA:800 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Pericardial effusion, Splenomegaly, Weight loss, Increased circulating antibody lev... |
OMIM:181000 |
Ablepharon Macrostomia Syndrome |
|
Redundant skin, Abnormality of skin pigmentation, Excessive wrinkled skin, Thin skin, Dry skin |
ORPHA:920 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Epider... |
ORPHA:744 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Edema, Weight loss |
ORPHA:309031 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hyperkeratosis, Fair hair, Blue irides, Generalized hypopigmentation |
OMIM:604292 |
Ppoma |
|
Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss |
ORPHA:97278 |
Fabry Disease |
|
Hyperkeratosis, Subcutaneous nodule |
ORPHA:324 |
Mucoepithelial Dysplasia, Hereditary |
|
Follicular hyperkeratosis |
OMIM:158310 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Warburg-Cinotti Syndrome |
|
Erythema, Thin skin, Follicular hyperkeratosis |
OMIM:618175 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Weight loss, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Weight loss |
ORPHA:100086 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Weight lo... |
ORPHA:84 |
X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Hereditary Late-Onset Parkinson Disease |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss |
ORPHA:411602 |
Grfoma |
|
Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss |
ORPHA:97261 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Trisomy 18 |
|
Chiari malformation, Cachexia, Oligohydramnios |
ORPHA:3380 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperkeratosis, Erythema, Papule, Ichthyosis |
ORPHA:2273 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Thin skin, Follicular hyperkeratosis |
ORPHA:536545 |
Leprechaunism |
|
Acanthosis nigricans, Thickened skin, Hyperkeratosis |
ORPHA:508 |
Parathyroid Carcinoma |
|
Shortened QT interval, Hypophosphatemia, Hypercalcemia, Weight loss |
ORPHA:143 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Miscarriage, Pruritus, Splenomegaly, Myocarditis, Congestive heart fa... |
ORPHA:3385 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia, Weight loss |
ORPHA:913 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperkeratosis, Dry skin |
OMIM:210710 |
Cockayne Syndrome |
|
Cerebellar atrophy, Cachexia, Splenomegaly, Retinal hemorrhage, Hypertension, Hyperuricemia, Mala... |
ORPHA:191 |
Malt Lymphoma |
|
Anemia, Weight loss |
ORPHA:52417 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Myocardial infarction, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infe... |
ORPHA:99889 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis |
ORPHA:75857 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Polyhydramnios, Weight loss |
ORPHA:2020 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Familial Pancreatic Carcinoma |
|
Weight loss, Hepatosplenomegaly |
ORPHA:1333 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Epidermal acanthosis |
ORPHA:83617 |
Nocardiosis |
|
Pleural effusion, Weight loss, Pericarditis, Cutaneous abscess |
ORPHA:31204 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly... |
ORPHA:2072 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia |
ORPHA:647 |
Camurati-Engelmann Disease |
|
Cachexia, Splenomegaly, Leukopenia, Hypertrophic cardiomyopathy, Slender build, Anemia |
ORPHA:1328 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... |
ORPHA:2388 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Goodpasture Syndrome |
|
Weight loss, Increased blood urea nitrogen, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
Marfan Syndrome |
|
Congestive heart failure, Slender build, Cachexia |
ORPHA:558 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Stickler Syndrome |
|
Arrhythmia, Slender build, Cachexia |
ORPHA:828 |
Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Cachexia |
ORPHA:649 |