Not currently registered for phenotyping at IMPC

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

Gene Summary

NIPA-like domain containing 4

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nipal4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nipal4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Nipal4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Porokeratosis Plantaris Palmaris Et Disseminata
Palmoplantar hyperkeratosis, Porokeratosis, Pruritus, Hyperkeratotic papule ORPHA:737
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Subungual hyperk... OMIM:148730
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Cole Disease
Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:615522
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Hyperkeratosis, Thickened skin ORPHA:1659
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of ha... ORPHA:498359
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Er... OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma, Hypergranulosis OMIM:617525
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Acquired Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Pruritus, Recurrent skin infections, Erythema, Hyperkeratos... ORPHA:454
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Autosomal Dominant Epidermolytic Ichthyosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratos... ORPHA:312
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis, Pruritus ORPHA:89838
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin OMIM:212360
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, Erythroderma, Generalize... OMIM:615024
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Striae distensae, Parakeratosis, Pruritus on foot, Facial erythema... ORPHA:64745
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Inflammatory abnormality of the skin, Crusti... ORPHA:79147
Chilblain Lupus
Pruritis on hand, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflammatory abnormality of the... ORPHA:90280
Classic Mycosis Fungoides
Pruritus, Erythema, Hyperkeratosis, Eczema, Skin ulcer, Edema, Dry skin, Skin rash ORPHA:2584
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Pruritus, Palmar hyperkeratosis ORPHA:79399
Atrophoderma Vermiculata
Follicular hyperkeratosis, Erythema, Pruritus, Hyperkeratotic papule ORPHA:79100
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Erythrokeratodermia Variabilis
Weight loss, Erythema, Hyperkeratosis, Patchy palmoplantar hyperkeratosis, Dry skin, Skin rash ORPHA:317
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb p... ORPHA:79395
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Erythema, Acantholysis, Edema ORPHA:455
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palma... ORPHA:2199
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus ORPHA:409
Bazex Syndrome
Palmoplantar keratoderma, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin, Acanthosis nigri... ORPHA:166113
Ulerythema Ophryogenesis
Acne, Miscarriage, Facial erythema, Contact dermatitis, Follicular hyperkeratosis, Dry skin, Hype... ORPHA:3406
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis OMIM:613943
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor, Decreased circulating copper concentration ORPHA:209981
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hyperkeratosis, Erythroderma, Generalize... OMIM:612281
Hypotrichosis Simplex Of The Scalp
Pruritus, Parakeratosis, Hyperkeratosis, Atopic dermatitis, Scaling skin ORPHA:90368
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Failure to thrive, Scaling skin, Dry skin OMIM:609180
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule ORPHA:79148
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Psoriasis 2
Hyperkeratosis, Scaling skin, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosi... OMIM:601952
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Hyperkeratosis, Scaling skin OMIM:607936
Hypotrichosis 6
Follicular hyperkeratosis, Erythema, Pruritus OMIM:607903
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis OMIM:609165
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle ORPHA:254478
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Ichthyosis, Pruritus, Parakeratosis, Erythema, Hyperkeratosis OMIM:615821
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Ichthyosis, Dry skin ORPHA:816
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Erythroderma, ... OMIM:615508
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis OMIM:618546
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Hypercalcemia, Parakeratosis, ... ORPHA:284426
Focal Palmoplantar And Gingival Keratoderma
Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Pemphigus Foliaceus
Pruritus, Erythema, Acantholysis, Erythroderma, Scaling skin, Psoriasiform dermatitis, Pustule, C... ORPHA:79481
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Pruritus, Skin vesicle, Parakeratosis ORPHA:158681
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Lamellar Ichthyosis
Pruritus, Ichthyosis, Dry skin, Hyperkeratosis, Erythroderma, Dehydration, Lack of skin elasticity ORPHA:313
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Erythema, Hyperkeratosis, Scaling skin, Dry skin OMIM:614457
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis OMIM:616029
Mednik Syndrome
Hyperkeratosis, Ichthyosis, Decreased circulating ceruloplasmin concentration, Decreased circulat... ORPHA:171851
Olmsted Syndrome, X-Linked
Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Subungual h... OMIM:300918
Vulvovaginal Gingival Syndrome
Erythema, Pruritus, Parakeratosis ORPHA:83453
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Ichthyosis, Erythema, Hyperkeratosis, Congenital nonbullous ichthyosifo... OMIM:606545
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Pruritus, Cutaneous abscess, Acantholysis, P... ORPHA:555905
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Eczema, Ichthyosis, Cutis laxa OMIM:612379
Ichthyosis, Hystrix-Like, With Deafness
Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis OMIM:602540
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin ORPHA:2269
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Lichen Planopilaris
Hyperkeratosis, Skin ulcer, Pruritus ORPHA:525
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Bathing Suit Ichthyosis
Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Congenital no... ORPHA:100976
Olmsted Syndrome 2
Palmoplantar keratoderma, Pruritus, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, P... OMIM:619208
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Weight loss, Ascites ORPHA:2198
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma OMIM:613576
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Skin Fragility-Woolly Hair Syndrome
Failure to thrive, Palmoplantar hyperkeratosis, Acantholysis OMIM:607655
Ramon Syndrome
Hyperkeratosis, Failure to thrive ORPHA:3019
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Streaks of hyperkeratosis along each finger onto the palm, Orthokeratot... OMIM:148700
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin OMIM:616295
Darier Disease
Palmoplantar keratoderma, Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Skin vesic... ORPHA:218
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Elevated circulating creatine kinase concentration ORPHA:300179
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Darier-White Disease
Subungual hyperkeratotic fragments, Acantholysis, Acrokeratosis, Pruritus OMIM:124200
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema OMIM:104100
Pityriasis Rubra Pilaris
Pruritus, Palmoplantar keratoderma, Ichthyosis, Eczema, Erythroderma, Pustule, Subungual hyperker... ORPHA:2897
Dowling-Degos Disease
Pruritus, Acne inversa, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule ORPHA:79145
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Erythroderma, Hypergranulosis, Congenital nonbullous ichthyosifor... OMIM:615023
Meige Disease
Cobblestone-like hyperkeratosis, Recurrent skin infections, Peripheral edema, Pleural effusion, P... ORPHA:90186
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hypergranulosis, Subungual hyperkeratosis OMIM:173200
Ichthyosis Prematurity Syndrome
Pruritus, Erythroderma, Generalized ichthyosis, Polyhydramnios, Follicular hyperkeratosis OMIM:608649
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Mildly elevated creatine kinase, Dry skin, Overweight ORPHA:486815
Proteus Syndrome
Hyperkeratosis OMIM:176920
Harlequin Ichthyosis
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Dehydration ORPHA:457
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Erythema, Hyperkeratosis, Hyperg... OMIM:242100
Noonan Syndrome 8
Large for gestational age, Palmoplantar cutis laxa, Pleural effusion, Hyperkeratosis, Eczema, Pol... OMIM:615355
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Erythroderma, Congenital nonbullous icht... OMIM:604777
Hyperkeratosis, Pruritus ORPHA:79358
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Palmoplantar keratoderma, Facial erythema, Follicular hyperkeratosis, Dry skin, Folliculitis OMIM:308800
Acrokeratoelastoidosis Of Costa
Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis, Hyperkeratotic papule ORPHA:38
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Parakeratosis, Congenital ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Er... OMIM:242300
Olmsted Syndrome 1
Palmoplantar keratoderma, Subungual hyperkeratosis, Pruritus, Parakeratosis OMIM:614594
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Hyperlipoproteinemia, Palmoplantar keratoderma, Weight loss, Abnormal circulating lipid concentra... ORPHA:1979
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Leopard Syndrome 3
Hyperkeratosis, Epidermal hyperkeratosis, Dry skin OMIM:613707
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Warty Dyskeratoma
Epidermal thickening, Acantholysis, Acrokeratosis ORPHA:69745
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Acne inversa, Orthokeratosis OMIM:617337
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Acantholysis OMIM:609638
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Hypophosphatemia ORPHA:2611
Psoriasis 14, Pustular
Parakeratosis, Erythema, Elevated circulating C-reactive protein concentration, Psoriasiform derm... OMIM:614204
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratotic papule ORPHA:79397
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Lipoid Proteinosis
Hyperkeratosis, Pustule, Acne, Thickened skin ORPHA:530
Milroy Disease
Erysipelas, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Pedal edema ORPHA:79452
Pemphigus Erythematosus
Acantholysis, Malar rash ORPHA:79480
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Failure to thrive OMIM:615279
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Netherton Syndrome
Hypereosinophilia, Angioedema, Parakeratosis, Erythroderma, Failure to thrive, Hypernatremic dehy... OMIM:256500
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Palmoplantar hyperkeratosis, Elevated circulating C-reactive protein concentra... OMIM:617388
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Elevated circulating creatine kinase concentration, Failure to thrive, Peau d'ora... OMIM:614576
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Thickened... ORPHA:189
Prolidase Deficiency
Palmoplantar keratoderma, Pruritus, Erythema, Hyperkeratosis, Skin ulcer, Crusting erythematous d... ORPHA:742
Pruritus, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Hyperparakeratosis, Ed... ORPHA:182
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
Costello Syndrome
Failure to thrive in infancy, Hyperkeratosis, Polyhydramnios, Acanthosis nigricans, Redundant ski... ORPHA:3071
Pulmonary Blastoma
Weight loss ORPHA:64741
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Dry skin, Ichthyosis, Orthokeratosis, Parakeratosis OMIM:607626
Chronic Mucocutaneous Candidiasis
Pruritus, Erythema, Hyperkeratosis, Skin ulcer, Skin rash ORPHA:1334
Follicular hyperkeratosis ORPHA:573
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis OMIM:262020
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratotic papule ORPHA:2698
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hypercholesterolemia, Sclerodactyly, Hyp... OMIM:610644
Gaucher Disease, Perinatal Lethal
Petechiae, Ichthyosis, Decreased body weight, Nonimmune hydrops fetalis, Hyperkeratosis, Polyhydr... OMIM:608013
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle OMIM:613102
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Elevated circulating C-reactive protein concentration, Hyperkeratos... OMIM:612852
Popov-Chang syndrome
Hyperkeratosis, Failure to thrive, Dry skin OMIM:618428
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Skin vesicle, Hyperkeratotic papule ORPHA:79410
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Death in infancy ORPHA:163966
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Eryt... OMIM:601675
Neonatal Lupus Erythematosus
Parakeratosis, Maculopapular exanthema, Hyperkeratosis, Malar rash, Skin rash ORPHA:398124
Juvenile Idiopathic Arthritis
Generalized hyperkeratosis, Psoriasiform dermatitis, Joint swelling, Pericardial effusion, Thicke... ORPHA:92
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Eczema, Failure to thrive, Xerostomia, Dry skin ORPHA:238468
Perifollicular hyperkeratosis OMIM:158000
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Elevated 8-dehydrocholesterol, Parakeratosis, Congenital ichthyosiform erythroderma, Erythema, Hy... OMIM:308050
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer ORPHA:1806
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Weight loss ORPHA:3389
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis OMIM:601812
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Poikiloderma With Neutropenia
Palmoplantar keratoderma, Hyperkeratosis, Plantar hyperkeratosis, Elevated circulating creatine k... OMIM:604173
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Ullrich Congenital Muscular Dystrophy 1
Follicular hyperkeratosis, Failure to thrive, Mildly elevated creatine kinase, Slender build OMIM:254090
Pachyonychia Congenita
Palmoplantar keratoderma, Palmar hyperkeratosis, Failure to thrive, Follicular hyperkeratosis, Li... ORPHA:2309
Acute Myelomonocytic Leukemia
Pallor, Eosinophilia, Weight loss ORPHA:517
Lethal Acantholytic Erosive Disorder
Oligohydramnios, Acantholysis ORPHA:158687
Donohue Syndrome
Hyperkeratosis, Acanthosis nigricans, Severe failure to thrive OMIM:246200
Odontoonychodermal Dysplasia
Orthokeratosis, Erythema, Plantar hyperkeratosis, Hypergranulosis, Dry skin OMIM:257980
Reticular Dysgenesis
Failure to thrive, Dehydration, Skin ulcer, Weight loss, Skin rash ORPHA:33355
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Failure to thrive in infancy OMIM:301220
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Acantholysis, Weight loss ORPHA:537
Sialidosis Type 1
Hyperkeratosis ORPHA:812
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Scaling skin, Follicular hyperkeratosis, Oligohydramnios, Dry skin OMIM:308205
Insulin Autoimmune Syndrome
Acanthosis nigricans, Weight loss ORPHA:411593
Stevens-Johnson Syndrome
Erythema, Acantholysis, Weight loss ORPHA:36426
Kanzaki Disease
Hyperkeratosis, Lymphedema, Dry skin OMIM:609242
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular ... OMIM:615726
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Hypoalbum... ORPHA:2070
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Dry skin OMIM:601701
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Increased circulating renin level, Hyperkalemia, Gluc... ORPHA:171876
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Ichthyosis ORPHA:1005
Naxos Disease
Palmoplantar keratoderma, Acantholysis OMIM:601214
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis ORPHA:2583
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated carcinoembryonic antigen level ORPHA:100083
Bethlem Myopathy
Hyperkeratosis, Elevated circulating creatine kinase concentration ORPHA:610
Bone Marrow Failure Syndrome 3
Hyperkeratosis, Failure to thrive, Eczema OMIM:617052
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Ichthyosis, Failure to thrive in infancy, Excessive wrinkled skin, Hype... ORPHA:1340
Rare Cutaneous Lupus Erythematosus
Neutrophilic infiltration of the skin, Superficial dermal perivascular inflammatory infiltrate, P... ORPHA:535
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Failure to thrive, Generalized hyperkeratosis ORPHA:349
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis OMIM:148210
Congenital Non-Bullous Ichthyosiform Erythroderma
Palmoplantar keratoderma, Ichthyosis, Pruritus, Erythroderma, Failure to thrive ORPHA:79394
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Palmoplantar keratoderma, Recurrent skin infections, Pruritus, Failure to thrive, Sc... ORPHA:158668
Huntington Disease-Like 2
Weight loss ORPHA:98934
Reactive Arthritis
Hyperkeratosis, Joint swelling, Weight loss, Pustule ORPHA:29207
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss ORPHA:86893
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis, Lymphedema, Palpebral edema OMIM:137940
Kid Syndrome
Recurrent cutaneous fungal infections, Recurrent bacterial skin infections, Palmoplantar keratode... ORPHA:477
Noonan Syndrome 10
Hyperkeratosis, Palmoplantar cutis laxa, Pleural effusion, Increased nuchal translucency OMIM:616564
Hodgkin Lymphoma
Pruritus, Weight loss ORPHA:98293
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Werner Syndrome
Slender build, Miscarriage, Hyperkeratosis, Skin ulcer, Lack of skin elasticity ORPHA:902
Punctate Palmoplantar Keratoderma Type 1
Palmoplantar keratoderma, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis, Hyperkera... ORPHA:79501
Noonan Syndrome 2
Hyperkeratosis, Palmoplantar cutis laxa, Polyhydramnios, Increased nuchal translucency OMIM:605275
Hypokalemia, Decreased body weight, Acanthosis nigricans, Increased circulating renin level, Hype... ORPHA:508
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Central Diabetes Insipidus
Dehydration, Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Lymphedema ORPHA:79280
Bullous Pemphigoid
Eczema, Erythema, Weight loss, Psoriasiform dermatitis ORPHA:703
X-Linked Agammaglobulinemia
Hypocalcemia, Failure to thrive, Skin ulcer, Recurrent cutaneous abscess formation, Weight loss, ... ORPHA:47
Incontinentia Pigmenti
Hyperkeratosis, Eosinophilia, Erythema, Pallor OMIM:308300
Polyarteritis Nodosa
Skin ulcer, Erythema, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Ichthyosis, Hyperkeratosis, Eczema, Polyhydramnios, Failure to thrive OMIM:607721
Pallor, Skin ulcer, Weight loss, Hypoalbuminemia ORPHA:507
Adrenocortical Carcinoma
Hypokalemia, Weight loss, Striae distensae, Elevated serum 11-deoxycortisol, Paradoxical increase... ORPHA:1501
Secondary Short Bowel Syndrome
Abnormal blood ion concentration, Failure to thrive, Low plasma citrulline, Dehydration, Weight l... ORPHA:95427
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Erythema ORPHA:99
Hermansky-Pudlak Syndrome
Hyperkeratosis, Weight loss, Thickened skin ORPHA:79430
Acquired Hypertrichosis Lanuginosa
Acanthosis nigricans, Ichthyosis, Weight loss, Thickened skin ORPHA:2221
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema OMIM:118650
Xeroderma Pigmentosum
Erythema, Hyperkeratosis, Failure to thrive, Dry skin, Thickened skin ORPHA:910
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Cardiofaciocutaneous Syndrome 1
Ichthyosis, Hyperkeratosis, Failure to thrive, Polyhydramnios, Atopic dermatitis OMIM:115150
Incontinentia Pigmenti
Eosinophilia, Erythema, Hyperkeratosis, Skin ulcer, Skin rash ORPHA:464
Follicular Lymphoma
Lymphedema, Weight loss, Pleural effusion ORPHA:545
Hypercalcemia, Infantile, 1
Dehydration, Failure to thrive, Infantile hypercalcemia, Weight loss OMIM:143880
Isaacs Syndrome
Weight loss ORPHA:84142
Ramon Syndrome
Hyperkeratosis, Decreased body weight OMIM:266270
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Muscular edema, Edema, Weight loss ORPHA:3165
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Pruritus, Elevated circulating C-reactive protein concentration, Acne, Psoriasiform dermatitis, P... ORPHA:324964
Chime Syndrome
Hyperkeratosis, Skin ulcer, Erythema, Ichthyosis ORPHA:3474
Alacrima, Achalasia, And Mental Retardation Syndrome
Hyperkeratosis OMIM:615510
Non-Functioning Paraganglioma
Pallor, Weight loss, Hypercalcemia ORPHA:94080
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperkeratosis, Failure to thrive, Oligohydramnios, Dry skin, Stillbirth OMIM:210710
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia ORPHA:157973
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Redundant neck skin ORPHA:1842
Lymphatic Filariasis
Hyperkeratosis, Lymphedema, Hypereosinophilia, Predominantly lower limb lymphedema ORPHA:2035
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Huntington Disease-Like 2
Weight loss OMIM:606438
Kindler Epidermolysis Bullosa
Hyperkeratosis, Erythema, Palmoplantar keratoderma, Recurrent skin infections ORPHA:2908
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Fabry Disease
Hyperkeratosis, Abnormal circulating lipid concentration, Lymphedema, Hyperlipidemia ORPHA:324
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Weight loss, Hypercalcemia, Decreased circulating cortisol level, Hyp... ORPHA:199299
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema, Weight loss ORPHA:3226
Diencephalic Syndrome
Decreased body weight, Cachexia ORPHA:1672
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Pleural effusion, Edema, Hypoalbuminemia, Ascites, Hypomagnesemia,... ORPHA:90362
Mulibrey Nanism
Cachexia ORPHA:2576
Eec Syndrome
Hyperkeratosis, Xerostomia, Dry skin ORPHA:1896
Takayasu Arteritis
Skin ulcer, Weight loss ORPHA:3287
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Pleural Mesothelioma
Weight loss, Pleural effusion ORPHA:50251
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Inflammatory abnormality of the... ORPHA:398063
Juvenile Huntington Disease
Weight loss ORPHA:248111
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Follicular hyperkeratosis OMIM:614557
Wolman Disease
Ascites, Cachexia, Steatorrhea ORPHA:75233
Huntington Disease
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index ORPHA:399
Juvenile Dermatomyositis
Pruritus, Weight loss, Erythema, Elevated circulating C-reactive protein concentration, Palpebral... ORPHA:93672
Aicardi-Goutieres Syndrome 9
Chilblains, Weight loss, Failure to thrive, Hypoalbuminemia, Ascites, Edema, Dry skin, Pericardia... OMIM:619487
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Pleural effusion, Atopi... ORPHA:2902
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Acute Adrenal Insufficiency
Hyponatremia, Weight loss, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decrea... ORPHA:95409
Classic Hodgkin Lymphoma
Pruritus, Weight loss, Skin rash ORPHA:391
Christianson Syndrome
Cachexia, Death in early adulthood ORPHA:85278
Holocarboxylase Synthetase Deficiency
Eczema, Perioral eczema, Weight loss, Hyperammonemia ORPHA:79242
Pseudomyxoma Peritonei
Weight loss, Ascites ORPHA:26790
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Hyperkeratosis, Penetrating foot ulcers, Acral ulceration ORPHA:548
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Angioedema, Erythema, Erythroderma, Pustule, Weight loss, Skin rash ORPHA:139402
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Hyperalaninemia, Cachexia ORPHA:298
Majeed Syndrome
Acne, Failure to thrive, Pustule, Inflammatory abnormality of the skin, Cachexia, Edema, Weight loss ORPHA:77297
Kaposi Sarcoma
Lymphedema, Weight loss, Skin rash ORPHA:33276
Beta-Ketothiolase Deficiency
Dehydration, Hyperuricemia, Pallor, Edema, Weight loss, Hyperammonemia ORPHA:134
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
6Q Terminal Deletion Syndrome
Hyperkeratosis, Failure to thrive, Obesity ORPHA:75857
Thymic Carcinoma
Edema, Weight loss, Palpebral edema ORPHA:99868
Congenital Tufting Enteropathy
Dehydration, Failure to thrive, Weight loss, Steatorrhea ORPHA:92050
Flynn-Aird Syndrome
Skin ulcer, Cachexia ORPHA:2047
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97289
Acrodermatitis Enteropathica
Weight loss, Erythema, Failure to thrive, Pustule, Skin ulcer, Dry skin ORPHA:37
Glucose-Galactose Malabsorption
Hypercalcemia, Failure to thrive, Dehydration, Hypernatremia, Weight loss ORPHA:35710
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Seborrheic dermatitis ORPHA:276280
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wilson Disease
Pruritus, Failure to thrive, Increased body weight, Joint swelling, Weight loss ORPHA:905
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Follicular hyperkeratosis, Palmoplantar cutis laxa, Excessive wrinkled skin OMIM:225400
Atypical Werner Syndrome
Decreased body weight, Hyperkeratosis, Failure to thrive, Hypertriglyceridemia, Skin ulcer, Lack ... ORPHA:79474
De Sanctis-Cacchione Syndrome
Parakeratosis OMIM:278800
Lysosomal Acid Lipase Deficiency
Pruritus, Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Failure to thrive, Hyper... ORPHA:275761
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Weight loss ORPHA:65682
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Mcdonough Syndrome
Cachexia ORPHA:2471
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Primary Myelofibrosis
Petechiae, Ecchymosis, Cachexia, Pallor, Purpura ORPHA:824
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acantholysis, Inflammatory abnormality of the skin, Skin ulcer, Xerostomia, Skin rash ORPHA:95455
Malignant Peritoneal Mesothelioma
Pedal edema, Weight loss, Ascites ORPHA:168811
Xfe Progeroid Syndrome
Death in adolescence, Failure to thrive, Hypoalbuminemia, Ascites, Cachexia, Dry skin OMIM:610965
Yao Syndrome
Xerostomia, Weight loss, Inflammatory abnormality of the skin, Skin rash OMIM:617321
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Nodular Non-Suppurative Panniculitis
Erythema, Weight loss, Edema ORPHA:33577
Ménétrier Disease
Hypoproteinemia, Weight loss, Peripheral edema, Hypoalbuminemia ORPHA:2494
Joint swelling, Weight loss ORPHA:668
Poems Syndrome
Pleural effusion, Abnormality of skin physiology, Ascites, Pericardial effusion, Edema, Weight lo... ORPHA:2905
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Eczema, Failure to thrive, Weight loss, Steatorrhea OMIM:212750
Warburg-Cinotti Syndrome
Follicular hyperkeratosis, Joint swelling, Erythema OMIM:618175
Huntington Disease-Like 1
Weight loss ORPHA:157941
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Hypokalemia, Hypercalcemia, Erythema, Ascites, Dehydration, Weight loss, Increased circulating co... ORPHA:97282
Mast Cell Sarcoma
Weight loss ORPHA:66661
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Failure to thrive, Weight loss ORPHA:361
Necrolytic migratory erythema, Pruritus, Hypercalcemia, Ascites, Skin rash, Weight loss, Increase... ORPHA:97280
Pfapa Syndrome
Weight loss ORPHA:42642
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Gm1 Gangliosidosis
Hydrops fetalis, Failure to thrive, Weight loss, Thickened skin ORPHA:354
Rheumatoid Arthritis
Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Addison Disease
Hyponatremia, Weight loss, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decrea... ORPHA:85138
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Pleural effusion, Pericardial effusion ORPHA:411703
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Cachexia, Decreased plasma total carnitine, H... ORPHA:42
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Pruritus, Weight loss, Ascites ORPHA:98850
Osteootohepatoenteric Syndrome
Hypokalemia, Pruritus, Increased serum bile acid concentration, Failure to thrive, Dehydration, W... OMIM:619377
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Eczema, Failure... ORPHA:83617
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Weight loss, Cachexia, Death in early adulthood OMIM:603041
X-Linked Creatine Transporter Deficiency
Redundant skin, Abnormal circulating creatine concentration, Cachexia ORPHA:52503
Wild Type Attr Amyloidosis
Pedal edema, Weight loss, Pleural effusion, Pulmonary edema ORPHA:330001
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Ichthyosis, Erythema, Hyperkeratosis, Eczema, Failure to thrive ORPHA:2273
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia, Ascites ORPHA:83469
Renpenning Syndrome
Cachexia ORPHA:3242
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Weight loss, Hypercalcemia ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Hyperuricemia, Pallor, Edema, Weight loss, Hyperammonemia ORPHA:20
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Cachexia OMIM:618186
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia, Xerostomia OMIM:175500
Insulin-Resistance Syndrome Type B
Decreased body weight, Weight loss, Abnormal circulating fatty-acid concentration, Abnormal circu... ORPHA:2298
Koolen-De Vries Syndrome Due To A Point Mutation
Ichthyosis, Small for gestational age, Slender build, Hyperkeratosis, Eczema ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ichthyosis, Small for gestational age, Slender build, Hyperkeratosis, Eczema ORPHA:363958
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Purpura, Weight loss, Skin rash ORPHA:183
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine... ORPHA:85450
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss ORPHA:86884
Perry Syndrome
Weight loss ORPHA:178509
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Short Syndrome
Excessive wrinkled skin, Weight loss ORPHA:3163
19Q13.11 Microdeletion Syndrome
Failure to thrive, Dry skin, Cachexia ORPHA:217346
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Eosinophilia, Pruritus, Weight loss ORPHA:98849
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent skin infections, Failure to thrive in infancy, Abnormal blood ion concentration, Hypoca... ORPHA:37042
Restrictive Dermopathy 1
Epidermal hyperkeratosis, Polyhydramnios, Stillbirth OMIM:275210
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Rat-Bite Fever
Erythema nodosum, Maculopapular exanthema, Morbilliform rash, Scaling skin, Pustule, Weight loss,... ORPHA:31205
Cronkhite-Canada Syndrome
Lymphedema, Cachexia ORPHA:2930
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Cachexia ORPHA:2774
Cowden Syndrome
Failure to thrive, Generalized hyperkeratosis, Palmoplantar keratoderma ORPHA:201
Systemic Capillary Leak Syndrome
Pedal edema, Weight loss, Pleural effusion, Pulmonary edema ORPHA:188
Restrictive Dermopathy
Dermal translucency, Generalized hyperkeratosis, Epidermal hyperkeratosis, Polyhydramnios, Scalin... ORPHA:1662
Acute Promyelocytic Leukemia
Weight loss, Petechiae, Purpura, Ecchymosis ORPHA:520
Imerslund-Gräsbeck Syndrome
Pallor, Failure to thrive, Weight loss ORPHA:35858
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Peripheral Primitive Neuroectodermal Tumor
Elevated alpha-fetoprotein, Pruritus, Elevated carcinoma antigen 125 level, Ascites, Weight loss ORPHA:370348
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Xerostomia OMIM:604292
Bronchial Neuroendocrine Tumor
Weight loss, Increased circulating cortisol level ORPHA:97287
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Diffuse Alveolar Hemorrhage
Weight loss, Elevated circulating creatinine concentration ORPHA:90060
Tetrasomy 12P
Cachexia ORPHA:884
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Epidermal thickening, Orthokeratotic hyperkeratosis, Thickened skin ORPHA:73223
Chronic Beryllium Disease
Weight loss ORPHA:133
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Weight loss, Hypercalcemia ORPHA:29072
Pruritus, Weight loss, Erythema, Abnormal eosinophil morphology, Periorbital edema, Skin ulcer, E... ORPHA:221
Elevated circulating creatine kinase concentration, Weight loss ORPHA:732
Lymphoid Interstitial Pneumonia
Eczema, Failure to thrive, Weight loss, Skin rash ORPHA:79128
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Weight loss, Pleural effusion, Hypoalbuminemia ORPHA:67
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Xerostomia OMIM:129900
Hypercalcemia, Ascites, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Chronic oral candidiasis, Weight loss, Pleural effusion ORPHA:723
Zollinger-Ellison Syndrome
Hypercalcemia, Erythema, Weight loss, Increased circulating cortisol level ORPHA:913
Hypercalcemia, Weight loss, Increased circulating cortisol level, Ascites ORPHA:97278
Kyphoscoliotic Ehlers-Danlos Syndrome
Follicular hyperkeratosis ORPHA:536545
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Giant Cell Arteritis
Skin ulcer, Weight loss ORPHA:397
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Weight loss, Reduced C-peptide level ORPHA:2126
Al Amyloidosis
Peripheral edema, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Xerostomia, Wei... ORPHA:85443
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Weight loss ORPHA:514
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Cap Polyposis
Weight loss ORPHA:160148
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Weight loss ORPHA:69078
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated circulatin... ORPHA:49041
Q Fever
Maculopapular exanthema, Pleural effusion, Purpura, Weight loss, Pericardial effusion ORPHA:781
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Weight loss ORPHA:400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, ... OMIM:613673
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Weight loss, Steatorrhea ORPHA:309031
Scleroderma, Weight loss ORPHA:99867
Whipple Disease
Pedal edema, Hyponatremia, Cachexia ORPHA:3452
Simple Cryoglobulinemia
Purpura, Weight loss, Acral ulceration ORPHA:91139
Cushing Syndrome Due To Ectopic Acth Secretion
Recurrent cutaneous fungal infections, Weight loss, Ecchymosis, Peripheral edema, Striae distensa... ORPHA:99889
Erdheim-Chester Disease
Pleural effusion, Xanthelasma, Joint swelling, Weight loss, Skin rash ORPHA:35687
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Cachexia, Skin rash ORPHA:220295
Hypercalcemia, Weight loss, Increased circulating cortisol level, Ascites ORPHA:97261
Caroli Disease
Pruritus, Weight loss, Conjugated hyperbilirubinemia, Ascites ORPHA:53035
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hypochloremia, Hyperkalemia, Decreased circulating cortisol level, Acne, Miscarriag... ORPHA:90794
Riddle Syndrome
Elevated alpha-fetoprotein, Erythema, Scaling skin, Weight loss ORPHA:420741
X-Linked Intellectual Disability, Cabezas Type
Acanthosis nigricans, Obesity, Cachexia ORPHA:85293
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Felty Syndrome
Weight loss ORPHA:47612
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Mildly elevated creatine... ORPHA:79102
Hepatocellular Carcinoma
Anasarca, Hypokalemia, Hyponatremia, Hypercalcemia, Pedal edema, Hyperbilirubinemia, Hypoalbumine... ORPHA:88673
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Perry Syndrome
Weight loss OMIM:168605
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Budd-Chiari Syndrome
Weight loss, Ascites ORPHA:131
Aredyld Syndrome
Cachexia ORPHA:1133
Kikuchi-Fujimoto Disease
Pruritus, Erythema, Elevated circulating C-reactive protein concentration, Pleural effusion, Palp... ORPHA:50918
Familial Thrombocytosis
Pruritus, Weight loss, Miscarriage ORPHA:71493
Oromandibular Dystonia
Weight loss ORPHA:93958
Lynch Syndrome
Death in infancy, Weight loss, Death in early adulthood ORPHA:144
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Ascites ORPHA:100085
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Periorbital edema, Skin ulcer, Purpura, We... ORPHA:900
Weight loss ORPHA:654
Fatal Familial Insomnia
Weight loss OMIM:600072
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, Abnormal circu... ORPHA:48435
Chronic Graft Versus Host Disease
Weight loss, Erythema, Morphea, Pleural effusion, Ascites, Skin ulcer, Xerostomia, Skin vesicle, ... ORPHA:99921
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Proteus Syndrome
Lymphedema, Generalized hyperkeratosis, Cachexia, Thickened skin ORPHA:744
Alveolar Echinococcosis
Eosinophilia, Pedal edema, Weight loss, Cutaneous abscess ORPHA:284
Granulomatosis With Polyangiitis
Skin ulcer, Weight loss OMIM:608710
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Pleural effusion, Hyperproteinemia,... ORPHA:29073
Polycythemia Vera
Pruritus, Weight loss ORPHA:729
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Silver-Russell Syndrome
Cachexia, Obesity, Failure to thrive in infancy ORPHA:813
Familial Colorectal Cancer Type X
Weight loss, Abnormal circulating creatine concentration ORPHA:440437
Small for gestational age, Elevated circulating C-reactive protein concentration, Pleural effusio... ORPHA:1304
Tsh-Secreting Pituitary Adenoma
Pallor, Hypokalemia, Weight loss, Pericardial effusion ORPHA:91347
Malignant Atrophic Papulosis
Weight loss, Pleural effusion ORPHA:679
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Mucolipidosis Type Ii
Oligohydramnios, Weight loss, Thickened skin ORPHA:576
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss, Abnormal circulating protein concentration ORPHA:747
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Failure to thrive in infancy, Hypophosphatemic rickets, Decreased plas... OMIM:219800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Weight loss OMIM:607459
Castleman Disease
Anasarca, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:160
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Primary Sclerosing Cholangitis
Pruritus, Pleural effusion, Hypoalbuminemia, Ascites, Weight loss ORPHA:171
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Igg4-Related Kidney Disease
Eosinophilia, Decreased retinol-binding protein level, Elevated circulating creatinine concentrat... ORPHA:449395
Schwartz-Jampel Syndrome
Decreased body weight, Elevated circulating creatine kinase concentration, Polyhydramnios, Cachex... ORPHA:800
Rett Syndrome
Cachexia OMIM:312750
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Gallbladder Neuroendocrine Tumor
Weight loss, Ascites ORPHA:100086
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Dehydration, Weight loss, Increased circulating cortisol... ORPHA:652
Gerstmann-Straussler Disease