| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
| Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
| Ulerythema Ophryogenesis |
|
Miscarriage, Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... |
ORPHA:3406 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... |
ORPHA:312 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
| Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis |
ORPHA:89838 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... |
ORPHA:64745 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
| Atrophoderma Vermiculata |
|
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
| Classic Mycosis Fungoides |
|
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Dry skin |
ORPHA:317 |
| Moynahan Syndrome |
|
Hyperkeratosis, Cachexia |
ORPHA:2574 |
| Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:79395 |
| Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... |
ORPHA:166113 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss, Acantholysis |
ORPHA:704 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... |
OMIM:605676 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er... |
OMIM:612281 |
| Irida Syndrome |
|
Hyperkeratosis, Decreased circulating copper concentration, Pallor, Ichthyosis |
ORPHA:209981 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev... |
OMIM:610768 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... |
OMIM:607602 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... |
OMIM:616295 |
| Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosiform erythrode... |
OMIM:614457 |
| Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Erythema, Dry skin, Ichthyosis |
ORPHA:816 |
| Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Pruritus |
ORPHA:254478 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl... |
OMIM:602540 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... |
ORPHA:79481 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Hyper... |
OMIM:620014 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Ichthyosis, Pa... |
OMIM:615508 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis |
OMIM:615147 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
| Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin |
ORPHA:313 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Mednik Syndrome |
|
Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c... |
ORPHA:171851 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Skin vesicl... |
ORPHA:555905 |
| Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema |
ORPHA:83453 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Failure to thrive |
OMIM:612379 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle |
ORPHA:158681 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
| Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
| Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
| Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Ichthyosis, Palmoplantar scaling skin... |
ORPHA:100976 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis |
OMIM:618625 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Skin ulcer |
ORPHA:525 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Palmoplantar keratoderma, Weight loss |
ORPHA:2198 |
| Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
| Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... |
ORPHA:218 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
| Ramon Syndrome |
|
Hyperkeratosis, Failure to thrive |
ORPHA:3019 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Darier-White Disease |
|
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis |
ORPHA:300179 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Facial edema, Pruritus,... |
ORPHA:293173 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, Mildly elevated creatine kinase, Follicular hyperkeratosis |
ORPHA:486815 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa |
ORPHA:79145 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
| Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
| Harlequin Ichthyosis |
|
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
| Noonan Syndrome 8 |
|
Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Palmoplantar cutis laxa, Pleur... |
OMIM:615355 |
| Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... |
OMIM:242100 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Thickened skin, Lack of skin elasticity, Weight loss, Palmoplantar keratoderma, Abnorma... |
ORPHA:1979 |
| Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion |
ORPHA:163525 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Acantholysis |
OMIM:609638 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hyperkeratotic papule, Palmar hyperkeratosis |
ORPHA:79397 |
| Warty Dyskeratoma |
|
Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
| Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
| Lipoid Proteinosis |
|
Pustule, Hyperkeratosis, Acne, Thickened skin |
ORPHA:530 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Hypophosphatemia |
ORPHA:2611 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Failure to thrive |
OMIM:615279 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration, Pu... |
OMIM:614204 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Dry skin, Palmoplantar ... |
OMIM:617388 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Elevated circulating creatine kinase concentration, Dry skin, Hyperkeratosis, P... |
OMIM:614576 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Hypereos... |
OMIM:256500 |
| Prolidase Deficiency |
|
Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Palmoplantar ke... |
ORPHA:742 |
| Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis |
ORPHA:1334 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
| Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer |
ORPHA:454831 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616029 |
| Costello Syndrome |
|
Failure to thrive in infancy, Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkerat... |
ORPHA:3071 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
| Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein concentration, P... |
OMIM:612852 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem... |
OMIM:610644 |
| Gaucher Disease, Perinatal Lethal |
|
Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Ichthyosis, Congenital nonbullous icht... |
OMIM:608013 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Death in infancy |
ORPHA:163966 |
| Pachyonychia Congenita |
|
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h... |
ORPHA:2309 |
| Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Xerostomia, Dry skin, Hyperkeratosis, Failure to thrive |
ORPHA:238468 |
| Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Skin ulcer |
ORPHA:1806 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Small for gestational age, Hyperkeratosis, Congenital nonbullous ichthyosiform ... |
OMIM:601675 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
| Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Hyp... |
OMIM:604173 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Failure to thrive, Slender build, Mildly elevated creatine kinase, Follicular hyperkeratosis |
OMIM:254090 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Lethal Acantholytic Erosive Disorder |
|
Oligohydramnios, Acantholysis |
ORPHA:158687 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:615225 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Pallor, Weight loss |
ORPHA:517 |
| Reticular Dysgenesis |
|
Skin rash, Dehydration, Skin ulcer, Weight loss, Failure to thrive |
ORPHA:33355 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Donohue Syndrome |
|
Severe failure to thrive, Hyperkeratosis, Acanthosis nigricans |
OMIM:246200 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Dermal transluc... |
OMIM:137940 |
| Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... |
OMIM:257980 |
| Toxic Epidermal Necrolysis |
|
Weight loss, Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
| Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Failure to thrive in infancy |
OMIM:301220 |
| Werner Syndrome |
|
Miscarriage, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Slender build |
ORPHA:902 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Skin vesicle, Pruritus, Hyperkeratotic papule, Palmoplantar keratoderma |
ORPHA:79410 |
| Stevens-Johnson Syndrome |
|
Weight loss, Erythema, Acantholysis |
ORPHA:36426 |
| Insulin Autoimmune Syndrome |
|
Acanthosis nigricans, Weight loss |
ORPHA:411593 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Elevated 8-dehydrocholesterol, Erythema, Elevated 8(9)-cholestenol, Hyperkeratosis... |
OMIM:308050 |
| Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Atopic dermatitis, We... |
ORPHA:2070 |
| Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
| Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:1005 |
| Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis... |
ORPHA:1340 |
| Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae, Lymphedema |
OMIM:609242 |
| Bethlem Myopathy |
|
Hyperkeratosis, Elevated circulating creatine kinase concentration |
ORPHA:610 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin |
OMIM:601701 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis |
OMIM:148210 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... |
ORPHA:158668 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Congenital Ichthyosiform Erythroderma |
|
Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Failure to thrive |
ORPHA:79394 |
| Fucosidosis |
|
Failure to thrive, Generalized hyperkeratosis |
ORPHA:349 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss |
ORPHA:86893 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Reactive Arthritis |
|
Pustule, Hyperkeratosis, Joint swelling, Weight loss |
ORPHA:29207 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
| Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Pleural effusion, Increased nuchal translucency |
OMIM:616564 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... |
ORPHA:79501 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
| Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Erythema, Hyperkeratosis, Pallor |
OMIM:308300 |
| Noonan Syndrome 2 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Increased nuchal translucency, Polyhydramnios |
OMIM:605275 |
| Leprechaunism |
|
Thickened skin, Hyperkeratosis, Hypokalemia, Hyperaldosteronism, Increased circulating renin leve... |
ORPHA:508 |
| Bullous Pemphigoid |
|
Erythema, Eczema, Psoriasiform dermatitis, Weight loss |
ORPHA:703 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79280 |
| Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Failure to th... |
OMIM:601812 |
| Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... |
ORPHA:1501 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Weight loss, Hypocalcemia, Failure ... |
ORPHA:47 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis |
OMIM:620189 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Steatorrhea, F... |
ORPHA:95427 |
| Leishmaniasis |
|
Hypoalbuminemia, Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Ichthyosis, Failure to thrive |
OMIM:607721 |
| Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Erythema, Skin ulcer, Weight loss |
ORPHA:767 |
| Acquired Hypertrichosis Lanuginosa |
|
Ichthyosis, Thickened skin, Acanthosis nigricans, Weight loss |
ORPHA:2221 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis, Failure to thrive, Eczema |
OMIM:617052 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Dehydration, Weight loss |
OMIM:143880 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Perianal erythema, Eczema, R... |
OMIM:308205 |
| Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Weight loss |
ORPHA:79430 |
| Xeroderma Pigmentosum |
|
Failure to thrive, Thickened skin, Erythema, Hyperkeratosis, Dry skin |
ORPHA:910 |
| Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Weight loss |
ORPHA:545 |
| Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Erythema, Skin ulcer, Hyperkeratosis |
ORPHA:464 |
| Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Failure to thrive |
OMIM:115150 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Pallor, Weight loss |
ORPHA:94080 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema |
ORPHA:3165 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
| Ramon Syndrome |
|
Hyperkeratosis, Decreased body weight |
OMIM:266270 |
| Chime Syndrome |
|
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis |
ORPHA:3474 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Eosinophilia, Hypercalcemia, Hyperkalemia, Dr... |
ORPHA:199299 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Edema, Elevated circulating C-reactive protein concentr... |
ORPHA:324964 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Cachexia |
ORPHA:157973 |
| Fabry Disease |
|
Hyperkeratosis, Hyperlipidemia, Abnormal circulating lipid concentration, Lymphedema |
ORPHA:324 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic mucocutaneous candidiasis, Eosinophilia, Follicular hyperkeratosis |
OMIM:158310 |
| Lymphatic Filariasis |
|
Hyperkeratosis, Predominantly lower limb lymphedema, Hypereosinophilia, Lymphedema |
ORPHA:2035 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Redundant neck skin, Weight loss |
ORPHA:1842 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Pallor, Weight loss |
ORPHA:3226 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural ... |
ORPHA:90362 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Pleural Mesothelioma |
|
Pleural effusion, Weight loss |
ORPHA:50251 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Kindler Epidermolysis Bullosa |
|
Hyperkeratosis, Erythema, Palmoplantar keratoderma, Recurrent skin infections |
ORPHA:2908 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemi... |
ORPHA:398063 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Takayasu Arteritis |
|
Skin ulcer, Weight loss |
ORPHA:3287 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Polyhydramnios, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Eec Syndrome |
|
Hyperkeratosis, Dry skin, Xerostomia |
ORPHA:1896 |
| Wolman Disease |
|
Ascites, Cachexia, Steatorrhea |
ORPHA:75233 |
| Juvenile Dermatomyositis |
|
Calcinosis, Skin rash, Elevated circulating creatine kinase concentration, Elevated circulating C... |
ORPHA:93672 |
| Huntington Disease |
|
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss |
ORPHA:399 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Atopic dermatitis, Weig... |
ORPHA:2902 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Angioedema, Erythema, Weight loss, Erythroderma |
ORPHA:139402 |
| Classic Hodgkin Lymphoma |
|
Pruritus, Skin rash, Weight loss |
ORPHA:391 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Aicardi-Goutieres Syndrome 9 |
|
Chilblains, Edema, Pericardial effusion, Dry skin, Weight loss, Ascites, Hypoalbuminemia, Failure... |
OMIM:619487 |
| Christianson Syndrome |
|
Death in early adulthood, Cachexia |
ORPHA:85278 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Rhabdoid Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:69077 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczema, Hyperammonemia, Weight loss |
ORPHA:79242 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Dry skin, Weight... |
ORPHA:95409 |
| Pseudomyxoma Peritonei |
|
Ascites, Weight loss |
ORPHA:26790 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Acne, Edema, Cachexia, Pustule, Weight loss, Failure to thrive |
ORPHA:77297 |
| Beta-Ketothiolase Deficiency |
|
Edema, Hyperammonemia, Weight loss, Dehydration, Hyperuricemia, Pallor |
ORPHA:134 |
| Flynn-Aird Syndrome |
|
Cachexia, Skin ulcer |
ORPHA:2047 |
| Congenital Tufting Enteropathy |
|
Dehydration, Failure to thrive, Steatorrhea, Weight loss |
ORPHA:92050 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Cachexia, Weight loss |
ORPHA:298 |
| Acrodermatitis Enteropathica |
|
Pustule, Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive |
ORPHA:37 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Leprosy |
|
Hyperkeratosis, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
| 6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Failure to thrive, Obesity |
ORPHA:75857 |
| Kaposi Sarcoma |
|
Lymphedema, Skin rash, Weight loss |
ORPHA:33276 |
| Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Polyhydramnios, Cachexia |
OMIM:618186 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Dehydration, Weight loss, Hypernatremia, Failure to thrive |
ORPHA:35710 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia, Weight loss |
ORPHA:97289 |
| Celiac Disease, Susceptibility To, 1 |
|
Eczema, Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive |
OMIM:212750 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Pruritus, Hyperkalemia, Dehydration, Weight loss, X... |
ORPHA:275761 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Weight loss |
OMIM:209950 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Decreased body weight,... |
ORPHA:79474 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Acantholysis, Xerostomia, Skin ulcer |
ORPHA:95455 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Dry skin, Hyperkeratosis, Stillbirth, Hyperbilirubinemia, Death in childhood, F... |
OMIM:210710 |
| Wilson Disease |
|
Pruritus, Increased body weight, Weight loss, Joint swelling, Failure to thrive |
ORPHA:905 |
| Xfe Progeroid Syndrome |
|
Cachexia, Dry skin, Death in adolescence, Ascites, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Pruritus, Weight loss |
ORPHA:65682 |
| Primary Myelofibrosis |
|
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis |
OMIM:278800 |
| Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
| Yao Syndrome |
|
Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss |
OMIM:617321 |
| Nodular Non-Suppurative Panniculitis |
|
Erythema, Edema, Weight loss |
ORPHA:33577 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Palmoplantar cutis laxa, Excessive wrinkled skin, Follicular hyperkeratosis |
OMIM:225400 |
| Warburg-Cinotti Syndrome |
|
Joint swelling, Erythema, Follicular hyperkeratosis |
OMIM:618175 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
| Restrictive Dermopathy 1 |
|
Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Scaling skin, Neonatal death, Oligohydramnios |
OMIM:275210 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Ménétrier Disease |
|
Hypoproteinemia, Peripheral edema, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Failure to thrive |
ORPHA:361 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentrat... |
ORPHA:42 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Weight loss, Pleural... |
ORPHA:2905 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:411703 |
| Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Redundant skin, Cachexia |
ORPHA:52503 |
| Aggressive Systemic Mastocytosis |
|
Pruritus, Ascites, Maculopapular exanthema, Weight loss |
ORPHA:98850 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Hyperammonemia, Weight loss, Dehydration, Hyperuricemia, Pallor |
ORPHA:20 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Weight loss, Joint... |
ORPHA:465508 |
| Gm1 Gangliosidosis |
|
Thickened skin, Failure to thrive, Hydrops fetalis, Weight loss |
ORPHA:354 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Wild Type Attr Amyloidosis |
|
Pleural effusion, Pulmonary edema, Pedal edema, Weight loss |
ORPHA:330001 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
| Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Dry skin, Weight... |
ORPHA:85138 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Pallor, Weight loss |
ORPHA:276621 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Cachexia, Weight loss |
ORPHA:83469 |
| Rheumatoid Arthritis |
|
Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration, Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure... |
OMIM:619377 |
| Glucagonoma |
|
Skin rash, Hypercalcemia, Necrolytic migratory erythema, Pruritus, Weight loss, Increased circula... |
ORPHA:97280 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Eczema, Hyperkeratosis, Ichthyosis, Slender build |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Eczema, Hyperkeratosis, Ichthyosis, Slender build |
ORPHA:363958 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
| Vipoma |
|
Hypercalcemia, Erythema, Dehydration, Weight loss, Increased circulating cortisol level, Hypokale... |
ORPHA:97282 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Eczema, Erythema, Hyperkeratosis, Ichthyosis, Failure to thrive |
ORPHA:2273 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Pruri... |
ORPHA:370348 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss |
ORPHA:86884 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Failure to thrive in infancy, Ecze... |
ORPHA:37042 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss, Skin rash, Eosinophilia, Purpura |
ORPHA:183 |
| Acute Promyelocytic Leukemia |
|
Ecchymosis, Weight loss, Petechiae, Purpura |
ORPHA:520 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Lymphedema |
ORPHA:2930 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Dry skin, Cachexia |
ORPHA:217346 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Abnormality of body weight, Abnormal circula... |
ORPHA:2298 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Polyhydramnios, Cachexia |
ORPHA:2774 |
| Systemic Capillary Leak Syndrome |
|
Pleural effusion, Pulmonary edema, Pedal edema, Weight loss |
ORPHA:188 |
| Short Syndrome |
|
Excessive wrinkled skin, Weight loss |
ORPHA:3163 |
| Restrictive Dermopathy |
|
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl... |
ORPHA:1662 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pruritus, Eosinophilia, Pallor, Weight loss |
ORPHA:98849 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
| Cowden Syndrome |
|
Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis |
ORPHA:201 |
| Rat-Bite Fever |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... |
ORPHA:31205 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Bronchial Neuroendocrine Tumor |
|
Increased circulating cortisol level, Weight loss |
ORPHA:97287 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Pallor, Weight loss |
ORPHA:29072 |
| Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin |
ORPHA:73223 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hyperkeratosis, Xerostomia |
OMIM:604292 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Pneumocystosis |
|
Chronic oral candidiasis, Pleural effusion, Weight loss |
ORPHA:723 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Elevated circulating deoxyuridine concentration, Cachexia, Weight loss,... |
OMIM:603041 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Weight ... |
ORPHA:221 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated carcinoembryonic antigen level, Ascites, Elevated circulating alpha-fetoprotein concentr... |
ORPHA:100085 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hyperkeratosis, Xerostomia |
OMIM:129900 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
| Giant Cell Arteritis |
|
Skin ulcer, Weight loss |
ORPHA:397 |
| Polymyositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:732 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Peripheral edema, Hypoalb... |
ORPHA:85443 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Skin rash, Eczema, Weight loss |
ORPHA:79128 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Weight loss |
ORPHA:2126 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
| Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Weight loss |
ORPHA:514 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Elevated circulating C... |
ORPHA:49041 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Pleural empyema, Pleural effusion, Hypoalbuminemia, Weight loss |
ORPHA:67 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Somatostatinoma |
|
Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea, Ascites |
ORPHA:97283 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Follicular hyperkeratosis |
ORPHA:536545 |
| Q Fever |
|
Maculopapular exanthema, Pericardial effusion, Weight loss, Pleural effusion, Purpura |
ORPHA:781 |
| Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Erythema, Hypercalcemia, Weight loss |
ORPHA:913 |
| Erdheim-Chester Disease |
|
Skin rash, Weight loss, Xanthelasma, Joint swelling, Pleural effusion |
ORPHA:35687 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hydrops fetalis, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptog... |
OMIM:613673 |
| Ppoma |
|
Increased circulating cortisol level, Ascites, Hypercalcemia, Weight loss |
ORPHA:97278 |
| Cystic Echinococcosis |
|
Eosinophilia, Hyperbilirubinemia, Weight loss |
ORPHA:400 |
| Riddle Syndrome |
|
Erythema, Scaling skin, Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:420741 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body ... |
ORPHA:99889 |
| Simple Cryoglobulinemia |
|
Weight loss, Acral ulceration, Purpura |
ORPHA:91139 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Miscarriage, Acne, Hyperkalemia, Dehydration,... |
ORPHA:90794 |
| Caroli Disease |
|
Conjugated hyperbilirubinemia, Pruritus, Abnormal circulating alpha-fetoprotein concentration, We... |
ORPHA:53035 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Steatorrhea, Weight loss |
ORPHA:309031 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Skin rash, Cachexia |
ORPHA:220295 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Familial Thrombocytosis |
|
Pruritus, Miscarriage, Weight loss |
ORPHA:71493 |
| Whipple Disease |
|
Hyponatremia, Cachexia, Pedal edema |
ORPHA:3452 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Thymoma |
|
Scleroderma, Weight loss |
ORPHA:99867 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Acanthosis nigricans, Obesity, Cachexia |
ORPHA:85293 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Kikuchi-Fujimoto Disease |
|
Skin rash, Palpebral edema, Elevated circulating C-reactive protein concentration, Pruritus, Pust... |
ORPHA:50918 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
| Aicardi-Goutieres Syndrome 7 |
|
Skin rash, Chilblains, Edema, Pericardial effusion, Increased circulating ferritin concentration,... |
OMIM:615846 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Budd-Chiari Syndrome |
|
Ascites, Weight loss |
ORPHA:131 |
| Grfoma |
|
Increased circulating cortisol level, Ascites, Hypercalcemia, Weight loss |
ORPHA:97261 |
| Lynch Syndrome |
|
Death in infancy, Death in early adulthood, Weight loss |
ORPHA:144 |
| Granulomatosis With Polyangiitis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Periorbital edema, Skin ulcer, ... |
ORPHA:900 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Failure to thrive in infancy, Reduced blood urea nitrogen, Weight loss, Hypophospha... |
OMIM:219800 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
| Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Pleu... |
ORPHA:29073 |
| Granulomatosis With Polyangiitis |
|
Skin ulcer, Weight loss |
OMIM:608710 |
| Chronic Graft Versus Host Disease |
|
Thickened skin, Erythema, Xerostomia, Skin ulcer, Weight loss, Skin vesicle, Pleural effusion, As... |
ORPHA:99921 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Inflammatory abnormality of the skin, Palpable purpur... |
ORPHA:48435 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Dehydration, Weight loss, Hypophosphatemia, Hypokalemia, Decreased ... |
ORPHA:3337 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Brucellosis |
|
Miscarriage, Small for gestational age, Elevated circulating C-reactive protein concentration, We... |
ORPHA:1304 |
| Polycythemia Vera |
|
Pruritus, Weight loss |
ORPHA:729 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Alveolar Echinococcosis |
|
Cutaneous abscess, Eosinophilia, Pedal edema, Weight loss |
ORPHA:284 |
| Familial Colorectal Cancer Type X |
|
Abnormal circulating creatine concentration, Weight loss |
ORPHA:440437 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Pruritus, Weight loss, Hypoalbuminemia, Pleural effusion, Ascites |
ORPHA:171 |
| Proteus Syndrome |
|
Thickened skin, Generalized hyperkeratosis, Cachexia, Lymphedema |
ORPHA:744 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Castleman Disease |
|
Anasarca, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:160 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Hypokalemia, Pallor, Weight loss |
ORPHA:91347 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
| Pulmonary Alveolar Microlithiasis |
|
Abnormal circulating calcium concentration, Weight loss, Peripheral edema, Increased circulating ... |
ORPHA:60025 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Weight loss |
ORPHA:679 |
| Mucolipidosis Type Ii |
|
Thickened skin, Oligohydramnios, Weight loss |
ORPHA:576 |
| Immunodeficiency 31C |
|
Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo... |
OMIM:614162 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
|
