Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pkp1 MGI:1328359

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

plakophilin 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pkp1 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.

Human diseases associated with Pkp1 (2 diseases)
Human diseases predicted to be associated with Pkp1 (725 diseases)

The table below shows human diseases associated to Pkp1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ectodermal Dysplasia-Skin Fragility Syndrome		Alopecia universalis, Palmoplantar keratoderma, Failure to thrive, Chapped lip, Recurrent skin in...	ORPHA:158668
Ectodermal Dysplasia/Skin Fragility Syndrome		Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536

The table below shows human diseases predicted to be associated to Pkp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis	ORPHA:735
Ulerythema Ophryogenesis	Hyperkeratotic papule, Erythematous papule, Sparse lateral eyebrow, Dermal atrophy, Dry skin, Fac...	ORPHA:3406
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Skin erosion, Nevus, Dystrophic toenail, Failure to thrive, Atrophic scars, Milia, Palmoplantar h...	ORPHA:89838
Diffuse Palmoplantar Keratoderma, Bothnian Type	Papule, Erythema, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus	ORPHA:2337
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Classic Mycosis Fungoides	Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Hypopigmented skin patches, Dry skin, Skin...	ORPHA:2584
Hyperkeratosis Lenticularis Perstans	Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule	ORPHA:409
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, White papule, ...	ORPHA:498359
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular s...	ORPHA:79100
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous d...	ORPHA:158673
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Scarring, Skin plaque, Pruritus, Subcutane...	ORPHA:89843
Epidermolysis Bullosa Dystrophica, Pretibial	Atrophic scars, Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Plantar hyperkeratosis, Milia, Nail dystrophy, Hypomelanotic macule, Spott...	ORPHA:79399
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis	OMIM:146750
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Malar ...	ORPHA:90280
Lamellar Ichthyosis	Dry skin, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Pruritus, Spa...	ORPHA:313
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, White forelock, Low anterior hairline, ...	ORPHA:742
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Acantholysis, Edema, Thin skin	ORPHA:455
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Weight loss, Erythroderma, Hyperkeratosis	ORPHA:312
Erythrokeratodermia Variabilis	Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Skin ...	ORPHA:317
Lichen Planopilaris	Alopecia, Skin ulcer, Hypopigmented skin patches, Dermal atrophy, Pruritus, Papule, Hyperkeratosis	ORPHA:525
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Pruritis on brea...	ORPHA:64745
Congenital Panfollicular Nevus	Skin nodule, Hyperkeratosis, Verrucous papule	ORPHA:139414
Reticular Dysgenesis	Failure to thrive, Skin ulcer, Skin rash, Weight loss, Dehydration	ORPHA:33355
Meige Disease	Cellulitis, Predominantly lower limb lymphedema, Atypical scarring of skin, Skin erosion, Facial ...	ORPHA:90186
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Long eyelashes, Pustule, Polyhydramnios, Papule, Dehydration	OMIM:616069
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Recurrent skin infectio...	ORPHA:79503
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermatitis, Failure to thrive, Breas...	ORPHA:238468
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Skin rash, Camptodactyly of finger, Thin skin	ORPHA:1658
Acquired Ichthyosis	Papule, Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Pruritus, Hyperk...	ORPHA:454
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis, Macule	OMIM:615537
Acrogeria	Skin ulcer, Fine hair, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Lipoatrophy, Thin...	ORPHA:2500
Dracunculiasis	Cellulitis, Skin ulcer, Skin rash, Subcutaneous nodule, Pruritus, Flexion contracture, Recurrent ...	ORPHA:231
Dermoodontodysplasia	Dry skin, Trichodysplasia, Thin skin	OMIM:125640
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis	OMIM:617571
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Failure to thrive, Oligohydramnios, Skin dimple, Aplasia/Hypoplasia of the eyebrow, Sparse hair, ...	ORPHA:261304
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Chronic Hiccup	Weight loss, Dehydration	ORPHA:396
Harlequin Ichthyosis	Erythroderma, Hyperkeratosis, Dehydration	ORPHA:457
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Erythematous plaque, Superficial dermal perivascular inflammatory infil...	OMIM:618531
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb...	ORPHA:2985
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Sparse hair, Eczematoid dermatitis, Thin skin	ORPHA:1810
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Dermal atrophy, Alopecia of scalp, Diffuse palmop...	OMIM:617294
Necrobiosis Lipoidica	Erythema, Indurated nodule, Inflammatory abnormality of the skin, Skin ulcer, Skin nodule, Atroph...	ORPHA:542592
Darier Disease	Plantar pits, Palmoplantar keratoderma, Abnormal hair morphology, Acrokeratosis, Skin vesicle, Su...	ORPHA:218
Dermoodontodysplasia	Sparse body hair, Dry skin, Melanocytic nevus, Trichodysplasia, Sparse scalp hair, Thin skin	ORPHA:1660
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Hyperkeratosis, Scaling sk...	ORPHA:166113
Moynahan Syndrome	Cachexia, Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Netherton Syndrome	Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Angioedema, Failure to thrive, Hyperna...	OMIM:256500
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of sk...	ORPHA:1366
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ...	OMIM:607903
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Leukonychia, Diffuse palmoplantar hyperkeratosis, Parakeratos...	OMIM:620507
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Dehydration	OMIM:601410
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess	OMIM:619986
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule	ORPHA:1962
Familial Cold Urticaria	Erythema, Pruritus, Dehydration	ORPHA:47045
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Scaling skin, ...	ORPHA:90368
Dowling-Degos Disease	Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Acne inversa, Hyperpigm...	ORPHA:79145
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal hair morphology, Death in infancy, Aplasia/Hypoplasia of the skin, Progressi...	ORPHA:2028
Congenital Heart Defects And Ectodermal Dysplasia	High anterior hairline, Dry skin, Medial flaring of the eyebrow, Sparse scalp hair, Thin skin	OMIM:617364
Pemphigus Vulgaris	Atypical scarring of skin, Urticarial plaque, Alopecia of scalp, Weight loss, Acantholysis, Recur...	ORPHA:704
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope...	ORPHA:79402
Transient Neonatal Diabetes Mellitus	Failure to thrive, Small for gestational age, Dehydration, Umbilical hernia	ORPHA:99886
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin	ORPHA:743
Hereditary Acrokeratotic Poikiloderma	Erythema, Xerostomia, Skin ulcer, Hypopigmented skin patches, Eczematoid dermatitis, Camptodactyl...	ORPHA:2907
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Dry skin, Nail dystrophy, Facial erythema, Palmoplanta...	OMIM:212360
Netherton Syndrome	Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morphology, Trichorr...	ORPHA:634
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atypical scarring of skin, Sparse eyebrow, Atrophic scars, Sparse eyelashes, Lipodystrophy, Cutis...	ORPHA:75496
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morphology, Reduced subcutaneo...	ORPHA:1979
Familial Cervical Artery Dissection	Abnormality of connective tissue, Striae distensae, Thin skin	ORPHA:36382
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
X-Linked Ehlers-Danlos Syndrome	Hernia, Umbilical hernia, Inguinal hernia, Thin skin	ORPHA:75497
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Atypical scarring of skin, Petechiae, Thin skin	OMIM:225310
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Death in childhood, ...	OMIM:214150
Pemphigus Erythematosus	Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,...	ORPHA:79480
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Weight loss, Palmoplantar keratoderma	ORPHA:2198
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse...	OMIM:602540
Premature Aging Syndrome, Penttinen Type	Keloids, Failure to thrive, Dermal atrophy, Corneal stromal edema, Flexion contracture of finger,...	OMIM:601812
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Dry skin, Lack of skin elasticity	ORPHA:384
Chromomycosis	Hyperkeratotic papule, Atypical scarring of skin, Predominantly lower limb lymphedema, Hypopigmen...	ORPHA:182
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Dry skin, Sparse or a...	ORPHA:217346
Chronic Mucocutaneous Candidiasis	Papule, Erythema, Skin ulcer, Abnormal dental enamel morphology, Skin rash, Pruritus, Hyperkeratosis	ORPHA:1334
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Thin skin	OMIM:259410
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Failure to thrive, Thin skin	ORPHA:157965
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane...	OMIM:613736
Arthrochalasia Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Inguinal hernia, Scarring, Femoral hernia, Thin skin	ORPHA:1899
Olmsted Syndrome 2	Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contracture of d...	OMIM:619208
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Flynn-Aird Syndrome	Dermal atrophy, Alopecia, Alopecia of scalp, Hyperkeratosis	OMIM:136300
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Purpura, Thin skin	ORPHA:745
Central Diabetes Insipidus	Weight loss, Failure to thrive, Dehydration	ORPHA:178029
Autosomal Agammaglobulinemia	Cellulitis, Failure to thrive, Skin rash, Recurrent skin infections, Dehydration	ORPHA:33110
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Predominantly lower limb lymphedema, Nonimmune hydrops...	OMIM:607823
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Obesity, Hirsutism, Ecchymosis, Facial erythema, Abdominal obesity, Purpura, Ed...	OMIM:219090
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Decreased number of sweat glands, Fine hai...	OMIM:129400
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Omphalocele, Thin skin	OMIM:613630
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:289504
Familial Keratoacanthoma	Subcutaneous nodule, Papule, Hyperkeratosis, Skin ulcer	ORPHA:493
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Dermal atrophy, Scaling skin, Hyperkeratosis	ORPHA:454831
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin...	OMIM:150400
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Parakeratosis, Pruritus, Woolly ...	OMIM:615821
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Cutis Laxa, Autosomal Recessive, Type Iiia	Failure to thrive, Umbilical hernia, Inguinal hernia, Cutis laxa, Sparse hair, Thin skin	OMIM:219150
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Dehydration	OMIM:618958
Lichen Planus Pemphigoides	Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:254478
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Xanthomatosis, Generalized hirsutism, Aplasia/Hypoplasia of the skin, Lipodystrophy, ...	ORPHA:2348
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Dermal atrophy, Malar rash, Psoriasiform lesion, Hyperkeratosis, Annular cuta...	ORPHA:163525
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin	OMIM:602723
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Failure to thrive in infancy, Pustule, Weight loss, Dehydration	ORPHA:171876
Adult Syndrome	Absent nipple, Eczematoid dermatitis, Fair hair, Dermal atrophy, Breast hypoplasia, Dry skin, Alo...	OMIM:103285
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis	OMIM:136630
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:615024
Xeroderma Pigmentosum	Erythema, Alopecia, Hypopigmented skin patches, Failure to thrive, Dermal atrophy, Melanocytic ne...	ORPHA:910
Pemphigus Foliaceus	Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma...	ORPHA:79481
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Pruritus, Erythema migrans, Parakeratosis	ORPHA:158681
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Inguinal hernia, Nonimmune hydrops fetalis, Neonatal death, Death in a...	OMIM:620014
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair, Epidermoid cyst	ORPHA:492
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive, Dehydration	OMIM:143880
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Webbed neck, Joint contracture of the hand, Cigarette-paper scars, Camptodactyly of finger, Thin ...	OMIM:612350
Bullous Pemphigoid	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Weight loss, Macule, Pruritus	ORPHA:703
Kaposi Sarcoma	Papule, Hypermelanotic macule, Lymphedema, Skin rash, Weight loss, Macule, Skin plaque, Skin nodule	ORPHA:33276
Pulmonary Blastoma	Weight loss	ORPHA:64741
Aplasia Cutis Congenita	Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con...	ORPHA:1114
Short Syndrome	Premature skin wrinkling, Absence of subcutaneous fat, Inguinal hernia, Reduced subcutaneous adip...	OMIM:269880
Lymphatic Malformation 4	Cellulitis, Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Inguinal hernia, Thin skin	OMIM:225320
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Pparg-Related Familial Partial Lipodystrophy	Loss of facial adipose tissue, Xanthomatosis, Generalized hirsutism, Aplasia/Hypoplasia of the sk...	ORPHA:79083
Ichthyosis, Annular Epidermolytic, 1	Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Erythematou...	OMIM:607602
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Sparse eyelashe...	OMIM:308800
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Dehydration, Edema	ORPHA:103910
Noonan Syndrome 8	Webbed neck, Eczematoid dermatitis, Failure to thrive, Large for gestational age, Pleural effusio...	OMIM:615355
Mandibuloacral Dysplasia	Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa...	ORPHA:2457
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Fine hair, Supernumerary nipple, Abnormal dental enamel morphology, Dry skin, Inguinal hernia, Ap...	ORPHA:1812
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Polyhydramnios, Flexion contracture, Aplasia cutis congenita, Neonatal death	OMIM:612138
Silver-Russell Syndrome 2	Thin skin	OMIM:618905
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Weight loss	ORPHA:86893
Infantile Digital Fibromatosis	Skin nodule, Parakeratosis, Hyperkeratosis	ORPHA:199267
Propionic Acidemia	Failure to thrive, Eczematoid dermatitis, Dehydration	OMIM:606054
Isolated Agammaglobulinemia	Cellulitis, Skin ulcer, Failure to thrive, Skin rash, Recurrent cutaneous abscess formation	ORPHA:229717
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Leukonychia, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Scaling s...	OMIM:616295
Acrokeratosis Verruciformis Of Hopf	Skin-colored papule, Leukonychia, Nail dystrophy, Punctate palmoplantar hyperkeratosis, Skin plaq...	ORPHA:79151
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Failure to thrive, Death in childhood, Dehydration	OMIM:560000
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Nonimmune hydrops fetalis, Thin skin	OMIM:166210
Restrictive Dermopathy 1	Skin erosion, Sparse eyebrow, Short nail, Stillbirth, Epidermal hyperkeratosis, Oligohydramnios, ...	OMIM:275210
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Dehydration	ORPHA:79312
Werner Syndrome	Abnormal hair whorl, Chondrocalcinosis, Skin ulcer, Premature graying of hair, Slender build, Whi...	ORPHA:902
Cutis Laxa, Autosomal Recessive, Type Iiib	Fine hair, Elbow flexion contracture, Inguinal hernia, Excessive wrinkled skin, Cutis laxa, Derma...	OMIM:614438
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse body hair, Periorbital wr...	OMIM:305100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Premature graying of hair, Increased facial adipose tis...	ORPHA:280365
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Skin erosion, Alopecia totalis, Neonatal death, Aplasia cutis congenita, Ac...	OMIM:609638
Adult Syndrome	Alopecia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Melanocytic nevus, Dry skin, H...	ORPHA:978
Periventricular Nodular Heterotopia	Hernia, Thin skin	ORPHA:98892
Focal Dermal Hypoplasia	Erythema, Alopecia, Camptodactyly of finger, Umbilical hernia, Dermal atrophy, Abnormal dental en...	ORPHA:2092
Intestinal Dysmotility Syndrome	Polyhydramnios, Weight loss, Failure to thrive	OMIM:620045
X-Linked Agammaglobulinemia	Cellulitis, Alopecia, Skin ulcer, Hypopigmented skin patches, Failure to thrive, Skin rash, Weigh...	ORPHA:47
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Spotty hypopigmentation, Absent ey...	ORPHA:79133
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Hy...	OMIM:612281
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Webbed neck, Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, ...	OMIM:617506
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczematoid dermatitis, Failure to thrive, Nail dystrophy, Erythroderma, Thin skin	OMIM:615895
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit...	OMIM:602400
Dermatofibrosarcoma Protuberans	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:31112
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration, Neonatal death	OMIM:602199
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail d...	ORPHA:79395
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Oligohydramnios, Death in infancy, Arthrogryposis multiplex congenita, Small f...	OMIM:208085
Cushing Disease	Pedal edema, Skin ulcer, Striae distensae, Dorsocervical fat pad, Hirsutism, Ecchymosis, Recurren...	ORPHA:96253
Carnitine Deficiency, Systemic Primary	Failure to thrive, Dehydration	OMIM:212140
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cellulitis, Elbow flexion contracture, Knee flexion contracture, Pyoderma gangrenosum, Cystic acn...	OMIM:604416
Eosinophilic Fasciitis	Cellulitis, Fasciitis, Muscular edema, Weight loss, Macule, Subcutaneous nodule, Edema	ORPHA:3165
Warburg-Cinotti Syndrome	Ankle flexion contracture, Erythema, Elbow flexion contracture, Joint swelling, Wrist flexion con...	OMIM:618175
Osteootohepatoenteric Syndrome	Pruritus, Weight loss, Failure to thrive, Dehydration	OMIM:619377
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Inguinal hernia, Excessive wrinkled skin, Hernia, Hiatus ...	ORPHA:1901
Acrokeratosis Verruciformis	Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis	OMIM:101900
Prolidase Deficiency	Eczematoid dermatitis, Skin ulcer, Failure to thrive, Facial hirsutism, Petechiae, Crusting eryth...	OMIM:170100
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Failure to thrive, Dry skin, Deat...	OMIM:610768
Recon Progeroid Syndrome	Dry skin, Hirsutism, Scaling skin, Absent lower eyelashes, Thin skin	OMIM:620370
Milroy Disease	Cellulitis, Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema	ORPHA:79452
De Barsy Syndrome	Failure to thrive, Umbilical hernia, Inguinal hernia, Excessive wrinkled skin, Lipodystrophy, Cut...	ORPHA:2962
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hyperkeratosis, Hypermelanotic macule, Cafe-au-l...	OMIM:145250
Marshall-Smith Syndrome	Generalized hirsutism, Failure to thrive, Thin skin	ORPHA:561
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Palmoplantar keratoderma, Skin ulcer, Skin fissure, Sparse hair	ORPHA:659
Progressive Nodular Histiocytosis	Cachexia, Subcutaneous nodule, Papule	ORPHA:158022
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Abnormal hair morphology, Parakeratosis, H...	OMIM:604117
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Pyoderma Gangrenosum	Skin ulcer, Atrophic scars, Pustule, Skin vesicle, Papule	ORPHA:48104
Poikiloderma With Neutropenia	Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Dermal atrophy, Skin rash, Nail...	OMIM:604173
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Hyperkeratosis, Skin ulcer, Fine hair	ORPHA:1806
Acth-Independent Macronodular Adrenal Hyperplasia	Striae distensae, Truncal obesity, Thin skin	OMIM:219080
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Pigmented Nodular Adrenocortical Disease, Primary, 2	Striae distensae, Truncal obesity, Thin skin	OMIM:610475
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Atrophic scars, Milia, Nail dystrophy, Aplasia cutis congenita	ORPHA:79411
Follicular Lymphoma	Skin nodule, Weight loss, Pleural effusion, Lymphedema	ORPHA:545
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Chondrocalcinosis, Skin ulcer, Failure to thrive, Premature grayin...	ORPHA:79474
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin	ORPHA:230839
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Epidermolysis Bullosa, Junctional 1B, Severe	Failure to thrive, Atrophic scars, Milia, Nail dystrophy, Death in infancy, Enamel hypoplasia, Co...	OMIM:226700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Molluscoid pseudotumors, Inguinal hernia, Excessive wrinkled skin, Palmoplantar cutis laxa, Folli...	OMIM:225400
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Eczematoid dermatitis, Skin ulcer, Abnormal hair morphology, Skin rash, Skin vesicle,...	ORPHA:2314
Stuve-Wiedemann Syndrome 1	Thin skin, Premature skin wrinkling, Elbow flexion contracture, Milia, Oligohydramnios, Knee flex...	OMIM:601559
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration	OMIM:615237
Flynn-Aird Syndrome	Dermal atrophy, Alopecia, Cachexia, Skin ulcer	ORPHA:2047
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Thin skin, Thin eyebrow, Upper eyelid edema, Cafe-au-lait spot, Widow's peak, Synophrys	OMIM:617804
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Dehydration	OMIM:264350
Ehlers-Danlos Syndrome, Periodontal Type, 1	Umbilical hernia, Atrophic scars, Inguinal hernia, Hiatus hernia, Palmoplantar cutis laxa, Thin skin	OMIM:130080
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Breast aplasia, Dermal atrophy, Abnormal eyebrow morphology, Lack of skin elasticity, A...	ORPHA:90153
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Pustule, Cachexia, Weight loss, Flexion ...	ORPHA:77297
Nodular Non-Suppurative Panniculitis	Erythema, Aplasia/Hypoplasia of the skin, Weight loss, Subcutaneous nodule, Panniculitis, Edema	ORPHA:33577
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar...	OMIM:300918
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Hyperkeratosis	OMIM:607936
Idiopathic Achalasia	Weight loss	ORPHA:930
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Familial Benign Chronic Pemphigus	Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis	ORPHA:2841
Free Sialic Acid Storage Disease	Ascites, Failure to thrive in infancy, Hydrops fetalis, Skin ulcer	ORPHA:834
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Dehydration	OMIM:610600
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma	OMIM:604777
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, Recurrent bacterial skin infections, Skin ulcer	ORPHA:217390
Calciphylaxis	Cellulitis, Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Beta-Ketothiolase Deficiency	Weight loss, Pallor, Dehydration, Edema	ORPHA:134
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Skin rash, Palmoplantar pustulosis, Weight loss, Pruritus, Acne, Edema	ORPHA:324964
Secondary Short Bowel Syndrome	Weight loss, Failure to thrive, Dehydration	ORPHA:95427
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Leukonychia, Hyperkeratosis	OMIM:617525
Dermatomyositis	Cellulitis, Erythema, Alopecia, Chondrocalcinosis, Heliotrope rash, Skin ulcer, V-sign, Dry skin,...	ORPHA:221
Congenital Heart Defects And Skeletal Malformations Syndrome	Failure to thrive, Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Camptodactyly,...	OMIM:617602
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Acrodermatitis Enteropathica	Erythema, Alopecia, Skin ulcer, Failure to thrive, Abnormal eyebrow morphology, Dry skin, Pustule...	ORPHA:37
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Isovaleric Acidemia	Dehydration	OMIM:243500
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration	OMIM:177735
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum, Alopecia, Recurrent skin infections	OMIM:616576
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive, Dehydration	ORPHA:35710
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Redundant skin, Aplasi...	ORPHA:1807
Geroderma Osteodysplastica	Hernia, Redundant skin, Thin skin	ORPHA:2078
Familial Multiple Nevi Flammei	Skin ulcer, Hypermelanotic macule, Nevus flammeus, Papule, Edema	ORPHA:624
Leishmaniasis	Skin ulcer, Pallor, Weight loss, Skin plaque, Papule	ORPHA:507
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Lysosomal Acid Lipase Deficiency	Failure to thrive, Ascites, Xanthelasma, Xanthomatosis, Cachexia, Weight loss, Pruritus, Dehydration	ORPHA:275761
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Facial wrinkling, Dry skin, Decreased adipose tissue around neck, Absence of s...	OMIM:606721
Papa Syndrome	Pustule, Acne, Skin ulcer	ORPHA:69126
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Erythematous papule, Skin ulcer, Erythematous plaque, Weight loss, Panniculitis	ORPHA:86884
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrophic scars, Thick eyebrow, Inguinal hernia, Thin skin	ORPHA:230851
Cystinosis	Failure to thrive, Dehydration	ORPHA:213
Congenital Tufting Enteropathy	Weight loss, Failure to thrive, Dehydration	ORPHA:92050
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Dehydration	ORPHA:556030
Pigmented Nodular Adrenocortical Disease, Primary, 1	Striae distensae, Truncal obesity, Thin skin	OMIM:610489
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Skin ulcer	OMIM:620603
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Dermal atrophy, Generalized lipodystrophy, Nail dystrophy, Th...	ORPHA:90154
Reynolds Syndrome	Xerostomia, Skin ulcer, Ascites, Skin rash, Pruritus	ORPHA:779
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Inguinal hernia, Sparse eyelashes, Spar...	OMIM:129900
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Acrofacial Dysostosis Syndrome Of Rodriguez	Thin skin	OMIM:201170
Arterial Tortuosity Syndrome	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Cutis laxa, Fl...	OMIM:208050
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Dehydration	OMIM:251000
Glass Syndrome	Long eyelashes, Inguinal hernia, Camptodactyly, Sparse hair, Thin skin	OMIM:612313
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Thin skin, Umbilical hernia, Inguinal hernia, Follicular hyperkeratosi...	ORPHA:536545
Classic Hodgkin Lymphoma	Pruritus, Weight loss, Skin rash	ORPHA:391
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Ablepharon Macrostomia Syndrome	Fine hair, Camptodactyly of finger, Umbilical hernia, Breast hypoplasia, Dry skin, Redundant skin...	ORPHA:920
Polyarteritis Nodosa	Erythema, Subcutaneous nodule, Weight loss, Skin ulcer	ORPHA:767
Acquired Purpura Fulminans	Macular purpura, Skin rash, Macule, Pyoderma gangrenosum, Erythematous macule	ORPHA:49566
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Dermal translucency, Sparse hair, Thin skin	OMIM:612199
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Atrophic scars, Oligohydramnios, Multiple joint contractures, Dermal t...	ORPHA:536467
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atro...	ORPHA:251393
Cushing Syndrome Due To Ectopic Acth Secretion	Pedal edema, Skin ulcer, Striae distensae, Dorsocervical fat pad, Peripheral edema, Hirsutism, Ec...	ORPHA:99889
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Dehydration	OMIM:615453
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Lymphedema, Elbow flexion contracture, Atrophic scars, Inguinal hernia, Multip...	ORPHA:536471
Incontinentia Pigmenti	Erythema, Alopecia, Skin ulcer, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair m...	ORPHA:464
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss, Pallor, Dehydration, Edema	ORPHA:20
Even-Plus Syndrome	Atopic dermatitis, Highly arched eyebrow, Oligohydramnios, Aplasia cutis congenita, Sparse hair, ...	OMIM:616854
Multicentric Reticulohistiocytosis	Skin nodule, Cachexia	ORPHA:139436
Kaufman Oculocerebrofacial Syndrome	Preauricular skin tag, Sparse eyebrow, Failure to thrive, Sparse hair, Thin skin	OMIM:244450
Reactive Arthritis	Joint swelling, Pustule, Dystrophic fingernails, Weight loss, Enthesitis, Hyperkeratosis	ORPHA:29207
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin	OMIM:132000
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Skin ulcer, Hypopigmented skin patches	ORPHA:220402
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Failure to thrive	OMIM:143860
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood, Dehydration	OMIM:246450
Severe Generalized Junctional Epidermolysis Bullosa	Skin erosion, Alopecia, Failure to thrive, Dehydration, Pyoderma, Nail dystrophy, Aplasia cutis c...	ORPHA:79404
Acute Myelomonocytic Leukemia	Weight loss, Pallor	ORPHA:517
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Failure to thrive, Breast hypoplasia, Long eyelashes, Death in inf...	OMIM:224690
Adrenal Hypoplasia, Congenital	Failure to thrive, Dehydration	OMIM:300200
Neutrophilic Dermatosis, Acute Febrile	Erythema, Acne inversa, Panniculitis, Pyoderma gangrenosum, Cystic acne	OMIM:608068
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Alopecia, Palmoplantar keratoderma, Failure to thrive, Atrophic scars, Milia, Nail dyst...	ORPHA:79396
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Fair hair, Edema, Umbilical hernia, Failure to thrive, Frontal upsweep of hair, Cutis laxa, Spars...	OMIM:266920
Wolcott-Rallison Syndrome	Ascites, Dehydration, Decreased body weight	ORPHA:1667
Livedoid Vasculopathy	Erythematous papule, Skin ulcer, Macular purpura, Atrophic scars, Superficial dermal perivascular...	ORPHA:542643
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Angioedema, Skin rash, Pustule, Weight loss, Erythroderma, Macule	ORPHA:139402
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Thin skin	OMIM:112250
Pearson Marrow-Pancreas Syndrome	Erythema, Failure to thrive, Pallor, Death in childhood, Hydrops fetalis, Small for gestational a...	OMIM:557000
Lenz-Majewski Hyperostotic Dwarfism	Failure to thrive, Elbow flexion contracture, Inguinal hernia, Knee flexion contracture, Cutis la...	OMIM:151050
Takayasu Arteritis	Subcutaneous nodule, Weight loss, Skin ulcer	ORPHA:3287
Juvenile Dermatomyositis	Erythema, Alopecia, Skin ulcer, Dry skin, Skin rash, Weight loss, Palpebral edema, Pruritus	ORPHA:93672
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Flexion contracture, Dehydration	OMIM:616271
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Arterial Tortuosity Syndrome	Redundant skin, Inguinal hernia, Hiatus hernia, Femoral hernia, Thin skin	ORPHA:3342
Pseudomyxoma Peritonei	Hernia, Weight loss, Ascites	ORPHA:26790
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Weight loss, Eczematoid dermatitis	ORPHA:79242
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Weight loss	ORPHA:65682
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Dystrophic toenail, Skin ulcer, Dystrophic fingernails	ORPHA:1657
Ollier Disease	Subcutaneous nodule, Skin ulcer	ORPHA:296
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Dermal atrophy, Pleural...	ORPHA:69735
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Dehydration, Hirsutism	ORPHA:90791
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Failure to thrive, Dehydration	OMIM:214700
Brooke-Spiegler Syndrome	Skin nodule, Skin-colored papule, Skin ulcer, Nodular changes affecting the eyelids	ORPHA:79493
Eosinophilic Gastroenteritis	Ascites, Atopic dermatitis, Weight loss, Edema	ORPHA:2070
Buerger Disease	Skin ulcer	ORPHA:36258
Wilson Disease	Failure to thrive, Joint swelling, Increased body weight, Weight loss, Pruritus	ORPHA:905
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia, Death in infancy	ORPHA:157973
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Thin skin	ORPHA:449291
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Weight loss, Macule, Acantholysis	ORPHA:537
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Thin skin	ORPHA:2719
Ataxia-Telangiectasia	Failure to thrive, Premature graying of hair, Aplasia/Hypoplasia of the skin, Multiple cafe-au-la...	ORPHA:100
Alternating Hemiplegia Of Childhood	Thin eyebrow, Pallor, Failure to thrive, Dehydration	ORPHA:2131
Cholera	Palmoplantar cutis laxa, Dehydration, Miscarriage	ORPHA:173
Yao Syndrome	Inflammatory abnormality of the skin, Xerostomia, Skin rash, Weight loss	OMIM:617321
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration	OMIM:251110
Pleural Mesothelioma	Weight loss, Pleural effusion	ORPHA:50251
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Dehydration	OMIM:251100
Dyskeratosis Congenita	Sparse hair, Alopecia, Palmoplantar keratoderma, Skin ulcer, Hypopigmented skin patches, Prematur...	ORPHA:1775
Poems Syndrome	Abnormality of skin physiology, Hypertrichosis, Ascites, Leukonychia, Pleural effusion, Lipodystr...	ORPHA:2905
Rothmund-Thomson Syndrome	Facial edema, Sparse eyebrow, Abnormal dental enamel morphology, Alopecia totalis, Malar rash, Sk...	ORPHA:2909
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology, Dermal atrophy, Aplasia/Hypoplasia of the skin, Skin...	ORPHA:257
Xfe Progeroid Syndrome	Failure to thrive, Ascites, Dermal atrophy, Corneal scarring, Dry skin, Absence of subcutaneous f...	OMIM:610965
Isaacs Syndrome	Weight loss	ORPHA:84142
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Oligohydramnios, Dehydration, Neonatal death	OMIM:263200
Sweet Syndrome	Erythematous papule, Acne inversa, Predominantly dermal neutrophilic infiltrate, Erythematous pla...	ORPHA:3243
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Lipoatrophy, Lack of skin elasticity	ORPHA:2833
Kindler Epidermolysis Bullosa	Erythema, Atypical scarring of skin, Palmoplantar keratoderma, Camptodactyly of finger, Abnormal ...	ORPHA:2908
Fusariosis	Cellulitis, Skin ulcer, Fasciitis, Pleural effusion, Panniculitis, Maculopapular exanthema, Subcu...	ORPHA:228119
Renal Hypoplasia	Small for gestational age, Dehydration	ORPHA:93101
Wiedemann-Rautenstrauch Syndrome	Sparse eyebrow, Alopecia, Failure to thrive, Premature skin wrinkling, Dry skin, Alopecia of scal...	OMIM:264090
Kikuchi-Fujimoto Disease	Erythema, Skin erosion, Alopecia, Skin nodule, Palpebral edema, Malar rash, Pleural effusion, Ski...	ORPHA:50918
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cellulitis, Chylothorax, Erysipelas, Skin ulcer, Lymphedema, Abnormal hair morphology, Dry skin, ...	ORPHA:2526
Wiedemann-Rautenstrauch Syndrome	Sparse hair, Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of f...	ORPHA:3455
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Polyhydramnios, Limb joint contracture, Flexion contracture, Arthrogryp...	OMIM:618186
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Lymphedema, Dystrophic fingernails, Patchy alopec...	ORPHA:2930
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Angioedema, Skin rash, Pustule, Macule, Purpura, Edema	ORPHA:761
Vipoma	Erythema, Subcutaneous lipoma, Ascites, Weight loss, Dehydration	ORPHA:97282
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Skin ulcer, Fine hair, Umbilical hernia, Abnormal dental enamel morpho...	ORPHA:534
Oligomeganephronia	Small for gestational age, Congenital diaphragmatic hernia, Dehydration	ORPHA:2260
Aggressive Systemic Mastocytosis	Ascites, Pruritus, Maculopapular exanthema, Weight loss	ORPHA:98850
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita,...	ORPHA:99885
Malakoplakia	Inflammatory abnormality of the skin, Skin ulcer, Skin rash, Pruritus, Subcutaneous nodule, Papule	ORPHA:556
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum, Chronic oral candidiasis	OMIM:150550
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Absent eyelashes, Ventral hernia, Hypoplastic...	OMIM:200110
Infantile Myofibromatosis	Abnormal hair morphology, Subcutaneous nodule, Chondrocalcinosis, Skin ulcer	ORPHA:2591
Shigellosis	Failure to thrive in infancy, Purpura, Dehydration	ORPHA:810
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypertonic dehydration	OMIM:125800
Helsmoortel-Van Der Aa Syndrome	High anterior hairline, Failure to thrive, Obesity, Truncal obesity, Thin skin	OMIM:615873
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss, Pleural effusion	ORPHA:2902
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypertonic dehydration	OMIM:304800
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Christianson Syndrome	Cachexia, Thick eyebrow, Arthrogryposis multiplex congenita, Death in early adulthood	ORPHA:85278
Chronic Granulomatous Disease	Eczematoid dermatitis, Hypermelanotic macule, Skin ulcer, Macule	ORPHA:379
Bone Dysplasia, Lethal Holmgren Type	Hernia, Weight loss, Failure to thrive, Redundant neck skin	ORPHA:1842
Infantile Systemic Hyalinosis	Skin ulcer, Failure to thrive, Lymphedema, Camptodactyly of finger, Subcutaneous nodule	ORPHA:2176
Thymic Carcinoma	Palpebral edema, Weight loss, Edema	ORPHA:99868
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Pallor, Lymphedema	ORPHA:3226
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Palmoplantar keratoderma, Failure to thrive, Chapped lip, Recurrent skin in...	ORPHA:158668
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Congenital diaphragmatic hernia, Nail dystrophy, Aplasia cutis congenita, ...	OMIM:300887
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Blau Syndrome	Eczematoid dermatitis, Skin ulcer, Camptodactyly of finger, Joint swelling, Cystoid macular edema...	OMIM:186580
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Huntington Disease-Like 2	Weight loss	OMIM:606438
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia of the skin, Sacral dimple	ORPHA:1643
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Frontal balding, Failure to thrive, Hirsutism, Weight loss, Acne, Dehydration, Miscarriage	ORPHA:90794
Mulibrey Nanism	Cachexia	ORPHA:2576
Leprosy	Alopecia, Penetrating foot ulcers, Hypopigmented macule, Urticarial plaque, Sparse body hair, Acr...	ORPHA:548
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum, Recurrent skin infections, Cellulitis	ORPHA:486
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair	ORPHA:2221
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Thin skin	OMIM:166200
Aicardi-Goutieres Syndrome 9	Failure to thrive, Ascites, Dry skin, Chilblains, Weight loss, Pericardial effusion, Edema	OMIM:619487
Malignant Peritoneal Mesothelioma	Ascites, Weight loss, Pedal edema	ORPHA:168811
Dend Syndrome	Dehydration	ORPHA:79134
Microscopic Polyangiitis	Skin rash, Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:727
Adult-Onset Still Disease	Erythema, Joint swelling, Skin rash, Weight loss, Pruritus	ORPHA:829
Eec Syndrome	Sparse eyebrow, Coarse hair, Xerostomia, Nevus, Fine hair, Abnormal dental enamel morphology, Dry...	ORPHA:1896
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Skin rash, Weight loss, Subcutaneous nodule, Papule, Purpura	ORPHA:183
Microsporidiosis	Skin nodule, Cachexia, Weight loss, Dehydration	ORPHA:2552
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Long eyelashes, Melanocytic nevus, Weight loss, Hypopigmentati...	ORPHA:79430
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Failure to thrive, Dehydration	ORPHA:79282
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Acrofacial Dysostosis, Palagonia Type	Sparse lateral eyebrow, Dermal atrophy, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Ap...	ORPHA:1787
Stevens-Johnson Syndrome	Erythema, Acantholysis, Weight loss, Macule	ORPHA:36426
Rhabdoid Tumor	Subcutaneous nodule, Weight loss	ORPHA:69077
Colchicine Poisoning	Alopecia, Dehydration	ORPHA:31824
Mcdonough Syndrome	Cachexia, Synophrys	ORPHA:2471
Pyruvate Carboxylase Deficiency	Failure to thrive, Dehydration	ORPHA:3008
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Sparse hair, Hyperkeratosis	ORPHA:3474
Renpenning Syndrome	Thin eyebrow, Alopecia, Cachexia, Abnormal hairshaft morphology	ORPHA:3242
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Pgm3-Cdg	Atopic dermatitis, Eczematoid dermatitis, Skin ulcer, Cutaneous abscess, Failure to thrive, Recur...	ORPHA:443811
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Systemic Sclerosis	Alopecia, Digital ulcer, Acral ulceration, Joint swelling, Spotty hypopigmentation, Cutaneous scl...	ORPHA:90291
Short Syndrome	Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Excessive wrinkled skin, Lipodystro...	ORPHA:3163
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss, Pleural effusion	ORPHA:411703
Osteosarcoma	Weight loss, Joint swelling	ORPHA:668
Pneumocystosis	Weight loss, Pleural effusion, Chronic oral candidiasis	ORPHA:723
Hereditary Spherocytosis	Maculopapular exanthema, Pallor, Skin ulcer	ORPHA:822
Pearson Syndrome	Corneal stromal edema, Hydrops fetalis, Cafe-au-lait spot, Small for gestational age, Dehydration	ORPHA:699
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Non-Functioning Paraganglioma	Weight loss, Pallor	ORPHA:94080
Cystinosis, Nephropathic	Failure to thrive, Failure to thrive in infancy, Weight loss, Hypopigmentation of hair, Dehydration	OMIM:219800
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Desmoplastic Small Round Cell Tumor	Ascites, Cachexia, Weight loss	ORPHA:83469
Adams-Oliver Syndrome 2	Alopecia, Oligohydramnios, Aplasia cutis congenita, Low anterior hairline	OMIM:614219
Lymphoid Interstitial Pneumonia	Eczematoid dermatitis, Failure to thrive, Abnormality of connective tissue, Skin rash, Weight loss	ORPHA:79128
Infantile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411629
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dermal atrophy, Cachexia, Skin rash, Dry skin	ORPHA:220295
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Knee flexion contracture	ORPHA:3208
Familial Thrombocytosis	Pruritus, Weight loss, Miscarriage	ORPHA:71493
Bartter Syndrome Type 4	Failure to thrive, Severe failure to thrive, Polyhydramnios, Small for gestational age, Dehydration	ORPHA:89938
Adams-Oliver Syndrome	Alopecia, Failure to thrive, Ascites, Aplasia/Hypoplasia of the skin, Aplasia cutis congenita, Sp...	ORPHA:974
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Polyhydramnios, Cachexia, Camptodactyly of finger	ORPHA:2774
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Mhc Class I Deficiency 1	Skin ulcer	OMIM:604571
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:168558
Huntington Disease	Weight loss, Decreased body mass index	ORPHA:399
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:289548
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Hip contracture	OMIM:616801
Liposarcoma	Subcutaneous nodule, Weight loss	ORPHA:69078
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Dry skin, Death in childhood, Neonatal death, Absent eyelashes, Erythroderma, Absent eyebrow, Fol...	OMIM:308205
Peripheral Primitive Neuroectodermal Tumor	Ascites, Pruritus, Weight loss	ORPHA:370348
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Barber-Say Syndrome	Failure to thrive, Breast aplasia, Sparse or absent eyelashes, Redundant skin, Generalized hirsut...	ORPHA:1231
Primary Intestinal Lymphangiectasia	Generalized edema, Ascites, Pleural effusion, Weight loss, Pericardial effusion, Edema	ORPHA:90362
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Xerostomia, Skin ulcer	ORPHA:220393
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Subcutaneous nodule, Weight loss	ORPHA:514
Cryoglobulinemic Vasculitis	Petechiae, Purpura, Skin ulcer	ORPHA:91138
Rat-Bite Fever	Morbilliform rash, Skin rash, Pustule, Weight loss, Erythema nodosum, Scaling skin, Maculopapular...	ORPHA:31205
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita of scalp, Skin erosion, Atrophic scars, Milia, Nail dystrophy, Scarring a...	ORPHA:158684
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Gm1 Gangliosidosis	Failure to thrive, Camptodactyly of finger, Inguinal hernia, Hirsutism, Generalized hirsutism, We...	ORPHA:354
Multiple Endocrine Neoplasia Type 1	Confetti-like hypopigmented macules, Large cafe-au-lait macules with irregular margins, Multiple ...	ORPHA:652
Bartter Syndrome, Type 1, Antenatal	Chondrocalcinosis, Failure to thrive, Polyhydramnios, Small for gestational age, Dehydration	OMIM:601678
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczematoid dermatitis, Skin ulcer, Urticarial plaque, Skin rash, Erythema nodosum, Panniculitis, ...	OMIM:615688
Giant Cell Arteritis	Alopecia, Weight loss, Skin ulcer	ORPHA:397
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Skin erosion, Nevus, Failure to thrive, Milia, Decreased body weight, ...	ORPHA:89842
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dermal atrophy, Lack of skin elasticity, Lipodystrophy, Loss of subcutaneous adipose tissue in li...	OMIM:615381
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Distal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:18
Xeroderma Pigmentosum Variant	Dermal atrophy, Dry skin	ORPHA:90342
Systemic Capillary Leak Syndrome	Pulmonary edema, Weight loss, Pleural effusion, Pedal edema	ORPHA:188
Wild Type Attr Amyloidosis	Pulmonary edema, Weight loss, Pleural effusion, Pedal edema	ORPHA:330001
Marburg Hemorrhagic Fever	Petechiae, Maculopapular exanthema, Skin rash, Dehydration	ORPHA:99826
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Dermal atrophy, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss o...	OMIM:608612
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Celiac Disease, Susceptibility To, 1	Alopecia, Eczematoid dermatitis, Failure to thrive, Weight loss, Enamel hypoplasia	OMIM:212750
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Oculocerebrocutaneous Syndrome	Preauricular skin tag, Alopecia, Hypopigmented skin patches, Skin tags, Congenital diaphragmatic ...	ORPHA:1647
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios, Failure to thrive	ORPHA:223
Juvenile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411634
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Atypical scarring of skin, Inflammatory abnormality of the skin, Xerostomia, Skin ulc...	ORPHA:95455
Pfapa Syndrome	Weight loss	ORPHA:42642
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536
Primary Myelofibrosis	Pallor, Petechiae, Ecchymosis, Cachexia, Purpura	ORPHA:824
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Dermal atroph...	ORPHA:3322
Loeys-Dietz Syndrome	Striae distensae, Atypical scarring of skin, Camptodactyly of finger, Thin skin	ORPHA:60030
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Aredyld Syndrome	Sparse body hair, Abnormal dental enamel morphology, Cachexia, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:1133
Bartter Syndrome, Type 2, Antenatal	Chondrocalcinosis, Failure to thrive, Polyhydramnios, Small for gestational age, Dehydration	OMIM:241200
Refractory Celiac Disease	Inflammatory abnormality of the skin, Weight loss	ORPHA:398063
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Vascular Ehlers-Danlos Syndrome	Dermal translucency, Alopecia, Cigarette-paper scars, Umbilical hernia, Melanocytic nevus, Cystoc...	ORPHA:286
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Hypermobile Ehlers-Danlos Syndrome	Atypical scarring of skin, Umbilical hernia, Striae distensae, Cystocele, Inguinal hernia, Subcut...	ORPHA:285
Tetrasomy 12P	Cachexia, Sparse eyebrow, Sparse hair	ORPHA:884
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Dehydration, Umbilical hernia	ORPHA:96191
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Skin ulcer, Pustule, Cerebral edema, Subcutaneous nodule, Papule	ORPHA:68
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Joint contracture	OMIM:620443
Granulomatosis With Polyangiitis	Skin ulcer, Skin rash, Weight loss, Periorbital edema, Papule, Purpura	ORPHA:900
Restrictive Dermopathy	Webbed neck, Skin erosion, Sparse eyebrow, Short nail, Camptodactyly of finger, Generalized hyper...	ORPHA:1662
Rothmund-Thomson Syndrome Type 1	Facial edema, Abnormal dental enamel morphology, Dermal atrophy, Alopecia totalis, Sparse or abse...	ORPHA:221008
Immunodeficiency 27A	Weight loss	OMIM:209950
Perry Syndrome	Weight loss	ORPHA:178509
Adrenocortical Carcinoma	Increased body weight, Striae distensae, Weight loss, Hypertrichosis	ORPHA:1501
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Rothmund-Thomson Syndrome Type 2	Facial edema, Erythema, Abnormal dental enamel morphology, Dermal atrophy, Alopecia totalis, Spar...	ORPHA:221016
Focal Myositis	Weight loss	ORPHA:48918
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pruritus, Pallor, Weight loss	ORPHA:98849
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C...	ORPHA:371364
Ménétrier Disease	Peripheral edema, Weight loss	ORPHA:2494
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Cachexia	ORPHA:1933
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Failure to thrive in infan...	ORPHA:37042
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Malignant Atrophic Papulosis	Dermal atrophy, Papule, Pleural effusion, Weight loss	ORPHA:679
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Wolman Disease	Ascites, Cachexia	ORPHA:75233
Primary Fanconi Renotubular Syndrome	Weight loss, Dehydration	ORPHA:3337
Chronic Graft Versus Host Disease	Erythema, Alopecia, Xerostomia, Skin ulcer, Fasciitis, Ascites, Pleural effusion, Nail dystrophy,...	ORPHA:99921
Felty Syndrome	Cellulitis, Subcutaneous nodule, Weight loss	ORPHA:47612
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Caroli Disease	Ascites, Pruritus, Weight loss	ORPHA:53035
Graves Disease	Weight loss	OMIM:275000
Rheumatoid Arthritis	Weight loss, Joint swelling	OMIM:180300
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Failure to thrive, Dehydration	ORPHA:47159
Catastrophic Antiphospholipid Syndrome	Skin ulcer, Miscarriage	ORPHA:464343
Blau Syndrome	Erythema, Xerostomia, Skin ulcer, Camptodactyly of finger, Dry skin, Skin rash, Joint swelling, E...	ORPHA:90340
Autosomal Recessive Multiple Pterygium Syndrome	Webbed neck, Nevus, Failure to thrive, Camptodactyly of finger, Umbilical hernia, Inguinal hernia...	ORPHA:2990
Q Fever	Pleural effusion, Weight loss, Pericardial effusion, Maculopapular exanthema, Purpura	ORPHA:781
Glucagonoma	Subcutaneous lipoma, Ascites, Necrolytic migratory erythema, Skin rash, Weight loss, Pruritus	ORPHA:97280
Dominant Beta-Thalassemia	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231226
Erdheim-Chester Disease	Xanthelasma, Pleural effusion, Joint swelling, Skin rash, Weight loss	ORPHA:35687
Cystic Fibrosis	Failure to thrive, Dehydration	OMIM:219700
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Skin ulcer	OMIM:116920
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Cachexia	ORPHA:42
Hajdu-Cheney Syndrome	Coarse hair, Skin ulcer, Failure to thrive, Umbilical hernia, Dry skin, Thick eyebrow, Inguinal h...	ORPHA:955
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Weight loss, Pedal edema	ORPHA:49041
Pyomyositis	Subcutaneous nodule, Weight loss, Recurrent cutaneous abscess formation	ORPHA:764
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Xerostomia, Nail dystrophy	OMIM:175500
Curry-Jones Syndrome	Generalized hirsutism, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches	ORPHA:1553
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Weight loss, Erythematous plaque	ORPHA:100085
Acute Promyelocytic Leukemia	Weight loss, Purpura, Petechiae, Ecchymosis	ORPHA:520
Neuroblastoma, Susceptibility To, 1	Skin nodule, Weight loss, Failure to thrive	OMIM:256700
Lyme Disease	Skin nodule, Dermal atrophy, Joint swelling	ORPHA:91546
Chronic Beryllium Disease	Weight loss	ORPHA:133
Insulin-Resistance Syndrome Type B	Alopecia, Abnormality of body weight, Skin rash, Decreased body weight, Increased body weight, Hi...	ORPHA:2298
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Aicardi-Goutieres Syndrome 7	Atopic dermatitis, Oligohydramnios, Skin rash, Chilblains, Weight loss, Pericardial effusion, Edema	OMIM:615846
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nail dystrophy, Aplasia cutis congenita, Enamel hypoplasia, Polyhydramnios, Recurrent skin infect...	ORPHA:79403
Bannayan-Riley-Ruvalcaba Syndrome	Nevus, Lymphedema, Cachexia, Multiple cafe-au-lait spots, Lipoma, Subcutaneous nodule	ORPHA:109
De Sanctis-Cacchione Syndrome	Dermal atrophy, Hypermelanotic macule, Parakeratosis	OMIM:278800
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Simple Cryoglobulinemia	Localized skin lesion, Weight loss, Purpura, Acral ulceration	ORPHA:91139
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Neuroblastoma	Subcutaneous nodule, Anemic pallor, Weight loss	ORPHA:635
Polycythemia Vera	Pruritus, Weight loss	ORPHA:729
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Shoulder dimple, Cachexia, Cafe-au-lait spot	ORPHA:813
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Nail dystrophy, Enamel hypoplasia, Skin ulcer	OMIM:245660
Granulomatosis With Polyangiitis	Weight loss, Skin ulcer	OMIM:608710
Beta-Thalassemia Major	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Plague	Localized skin lesion, Skin ulcer, Chapped lip, Dry skin, Skin rash, Carbuncle, Erythema nodosum,...	ORPHA:707
Immunodeficiency 31C	Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Weight loss, Recurrent vulvovaginal can...	OMIM:614162
Cap Polyposis	Weight loss	ORPHA:160148
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss, Joint swelling	ORPHA:465508
Budd-Chiari Syndrome	Ascites, Weight loss	ORPHA:131
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Imerslund-Gräsbeck Syndrome	Weight loss, Pallor, Failure to thrive	ORPHA:35858
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Sparse scalp hair, Hypoplastic pilosebaceous units, Sparse eyelashes, Hypoplastic...	OMIM:601345
Wiskott-Aldrich Syndrome	Petechiae, Eczematoid dermatitis, Purpura, Skin ulcer	ORPHA:906
Alveolar Echinococcosis	Weight loss, Cutaneous abscess, Pedal edema	ORPHA:284
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Cutis Marmorata Telangiectatica Congenita	Skin erosion, Ascites, Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, P...	ORPHA:1556
Polymyositis	Chondrocalcinosis, Weight loss	ORPHA:732
X-Linked Creatine Transporter Deficiency	Cachexia, Redundant skin	ORPHA:52503
Primary Sjögren Syndrome	Xerostomia, Skin ulcer, Dry skin, Lichenoid skin lesion, Erythema nodosum, Purpura	ORPHA:289390
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Pallor	ORPHA:276621
Hereditary Elliptocytosis	Hydrops fetalis, Skin ulcer	ORPHA:288
Mucolipidosis Type Ii	Dry hair, White hair, Umbilical hernia, Fine hair, Oligohydramnios, Inguinal hernia, Hip contract...	ORPHA:576
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Obesity, Inguinal hernia, Cachexia, Abnormal hair pattern, Synophrys	ORPHA:85293
8P23.1 Microdeletion Syndrome	Obesity, Weight loss, Congenital diaphragmatic hernia	ORPHA:251071
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Desmosterolosis	Aplasia/Hypoplasia of the skin, Dermal atrophy, Failure to thrive	ORPHA:35107
Al Amyloidosis	Peripheral edema, Xerostomia, Weight loss	ORPHA:85443
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Weight loss, Pallor	OMIM:301310
Loeffler Endocarditis	Weight loss	ORPHA:75566
Schwartz-Jampel Syndrome	Shoulder flexion contracture, Umbilical hernia, Abnormal eyebrow morphology, Long eyelashes in ir...	ORPHA:800
Infantile Krabbe Disease	Cachexia, Hypopigmented skin patches, Failure to thrive	ORPHA:206436
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss, Purpura, Petechiae	ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica	Weight loss, Pleural effusion, Pleural empyema	ORPHA:67
Barber-Say Syndrome	Sparse eyebrow, Absent nipple, Hypertrichosis, Premature skin wrinkling, Dermal atrophy, Dry skin...	OMIM:209885
Perry Syndrome	Weight loss	OMIM:168605
Toriello-Lacassie-Droste Syndrome	Polyhydramnios, Aplasia/Hypoplasia of the skin, Failure to thrive	ORPHA:3339
Late-Onset Isolated Acth Deficiency	Dry skin, Weight loss, Failure to thrive	ORPHA:199299
Adams-Oliver Syndrome 5	Dystrophic toenail, Umbilical hernia, Cutis marmorata telangiectatica congenita, Inguinal hernia,...	OMIM:616028
Trisomy 18	Webbed neck, Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Hernia, C...	ORPHA:3380
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Cockayne Syndrome B	Atypical scarring of skin, Dry hair, Failure to thrive, Abnormal hair morphology, Dermal atrophy,...	OMIM:133540
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Cystic Echinococcosis	Localized skin lesion, Weight loss	ORPHA:400
Kindler Syndrome	Spotty hypopigmentation, Dermal atrophy, Palmoplantar hyperkeratosis, Diffuse skin atrophy	OMIM:173650
Nocardiosis	Cellulitis, Cutaneous abscess, Pleural effusion, Weight loss, Subcutaneous nodule	ORPHA:31204
Brucellosis	Cutaneous cyst, Erythematous papule, Failure to thrive, Pleural effusion, Weight loss, Purpura, S...	ORPHA:1304
Primary Sclerosing Cholangitis	Ascites, Pruritus, Pleural effusion, Weight loss	ORPHA:171
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Death in early adulthood, Weight loss	OMIM:603041
Insensitivity To Pain, Congenital, With Anhidrosis	Corneal scarring, Nail dystrophy, Acral ulceration, Sparse scalp hair	OMIM:256800
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Upper-limb joint contracture, Cachexia	ORPHA:300605
Postinfectious Vasculitis	Palpable purpura, Subcutaneous nodule, Inflammatory abnormality of the skin, Weight loss	ORPHA:48435
Oromandibular Dystonia	Weight loss	ORPHA:93958
Nephroblastoma	Weight loss	ORPHA:654
Dysosteosclerosis	Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin	ORPHA:1782
Whipple Disease	Cachexia, Pedal edema	ORPHA:3452
Parkes Weber Syndrome	Capillary malformation, Erythematous plaque, Skin ulcer, Scaling skin	ORPHA:90307
Proteus Syndrome	Verrucous epidermal nevus, Abnormal dental enamel morphology, Capillary malformation, Melanocytic...	ORPHA:744
Behçet Disease	Pleural effusion, Weight loss, Subcutaneous nodule, Papule, Acne	ORPHA:117
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio...	OMIM:248370
Fatal Familial Insomnia	Weight loss	OMIM:600072
Acute Adrenal Insufficiency	Sparse axillary hair, Weight loss, Failure to thrive, Dry skin	ORPHA:95409
Amyotrophic Lateral Sclerosis	Cachexia, Xerostomia	ORPHA:803
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Pallor	ORPHA:29072
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Failure to thrive, Elbow flexion contracture, Knee flexion contracture...	ORPHA:2020
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Sarcoidosis	Alopecia, Chylothorax, Pleural effusion, Joint swelling, Maculopapular exanthema, Scarring, Weigh...	ORPHA:797
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Hypermelanotic macule, Premature skin wrinkling, Dermal atrophy, Alopecia tot...	ORPHA:740
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Skin rash	OMIM:301074
Familial Glucocorticoid Deficiency	Weight loss, Failure to thrive	ORPHA:361
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Weight loss	OMIM:613673
Immunodeficiency 82 With Systemic Inflammation	Pustular rash, Skin rash, Joint swelling, Weight loss, Postauricular pit, Recurrent skin infections	OMIM:619381
Castleman Disease	Weight loss, Anasarca	ORPHA:160
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Hypopigmented skin patches, Failure to thrive, Abnormal dental enamel morphology, Derma...	ORPHA:2556
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Ascites, Corneal scarring, Acral ulceration, Failure to thrive	OMIM:256810
Gallbladder Neuroendocrine Tumor	Ascites, Weight loss	ORPHA:100086
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Familial Colorectal Cancer Type X	Flexion contracture, Weight loss	ORPHA:440437
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Flexion contracture, Weight loss, Joint swelling, Enthesitis	ORPHA:85408
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Premature graying of hair, Dermal atrophy, Nail dystrophy, Sparse eyela...	OMIM:268400
Riddle Syndrome	Erythema, Weight loss, Scaling skin	ORPHA:420741
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Systemic Lupus Erythematosus	Discoid lupus rash, Alopecia, Malar rash, Weight loss	ORPHA:536
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Weight loss, Pallor, Abnormal hair quantity	ORPHA:91347
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Scalp-Ear-Nipple Syndrome	Sparse pubic hair, Fine hair, Breast aplasia, Dry skin, Sparse axillary hair, Multiple lipomas, P...	OMIM:181270
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Fanconi Anemia	Hypopigmented skin patches, Umbilical hernia, Oligohydramnios, Weight loss, Multiple cafe-au-lait...	ORPHA:84
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Skin ulcer, Ecchymosis	ORPHA:2072
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Cockayne Syndrome	Dry hair, Congenital contracture, Contractures of the large joints, Fine hair, Premature skin wri...	ORPHA:191
Thymoma	Weight loss	ORPHA:99867
Ppoma	Ascites, Weight loss, Subcutaneous lipoma	ORPHA:97278
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Rett Syndrome	Cachexia	OMIM:312750
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Edema	ORPHA:309031
Xeroderma Pigmentosum, Complementation Group A	Dermal atrophy, Hypermelanotic macule, Erythematous papule, Verrucous epidermal nevus	OMIM:278700
Oculoectodermal Syndrome	Preauricular skin tag, Lymphedema, Supernumerary nipple, Epidermal nevus, Aplasia cutis congenita	OMIM:600268
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Addison Disease	Sparse axillary hair, Weight loss, Failure to thrive, Dry skin	ORPHA:85138
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Somatostatinoma	Ascites, Weight loss, Subcutaneous lipoma	ORPHA:97283
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive	ORPHA:1018
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Weight loss, Pedal edema	ORPHA:449395
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Zollinger-Ellison Syndrome	Lipoma, Multiple lipomas, Weight loss, Erythema	ORPHA:913
Grfoma	Ascites, Weight loss, Subcutaneous lipoma	ORPHA:97261
Ileal Neuroendocrine Tumor	Weight loss, Edema	ORPHA:100078
African Trypanosomiasis	Alopecia, Weight loss, Pruritus, Erythematous macule, Miscarriage	ORPHA:3385
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Multiple Myeloma	Weight loss, Pleural effusion	ORPHA:29073
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Cachexia, Multiple cafe-au-lait spots	ORPHA:1969
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, Redundant skin, Inguinal hernia, Aplasia/Hypoplasia of the ski...	ORPHA:2658
Seckel Syndrome	Abnormal dental enamel morphology, Cachexia, Sparse scalp hair	ORPHA:808
Lynch Syndrome	Flexion contracture, Death in early adulthood, Weight loss, Death in infancy	ORPHA:144
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Atrophic scars, Milia, Nail dystrophy, Aplasia cutis congenita, Flexion c...	ORPHA:79408
Klatskin Tumor	Weight loss	ORPHA:99978
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Macular edema, Skin rash, Cystoid macular edema, Weight loss	ORPHA:91500
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Pulmonary Alveolar Microlithiasis	Peripheral edema, Weight loss	ORPHA:60025
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Parathyroid Carcinoma	Lipoma, Chondrocalcinosis, Weight loss	ORPHA:143
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Palpebral edema, Weight loss, Xerostomia	ORPHA:79078
Nijmegen Breakage Syndrome	Abnormal hair morphology, Cachexia, Abnormal hair quantity, Low anterior hairline	ORPHA:647
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Weight loss, Pleural effusion	OMIM:181000
Leukocyte Adhesion Deficiency	Nail dystrophy, Perianal abscess, Pyoderma gangrenosum, Recurrent skin infections, Chronic oral c...	ORPHA:2968
Marfan Syndrome	Striae distensae, Cachexia, Inguinal hernia, Slender build	ORPHA:558
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Juvenile Polyposis Of Infancy	Cachexia, Subcutaneous lipoma	ORPHA:79076
Pancreatoblastoma	Weight loss	ORPHA:677
Tropical Pancreatitis	Weight loss	ORPHA:103918
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Branchiooculofacial Syndrome	Dermoid cyst, Atypical scarring of skin, Premature graying of hair, Supernumerary nipple, Dermal ...	OMIM:113620
Camurati-Engelmann Disease	Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia	ORPHA:1328
Malt Lymphoma	Weight loss	ORPHA:52417
Choreoacanthocytosis	Weight loss	ORPHA:2388
Tropical Endomyocardial Fibrosis	Ascites, Cachexia, Peripheral edema, Pedal edema	ORPHA:75565
Stickler Syndrome	Abnormal dental enamel morphology, Slender build, Cachexia	ORPHA:828
Goodpasture Syndrome	Weight loss, Pallor	OMIM:233450
Norrie Disease	Cachexia, Failure to thrive	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pkp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pkp1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Antagonistic Regulation of Intercellular Cohesion by Plakophilins 1 and 3.	The Journal of investigative dermatology (June 2016)	Pkp1^{tm2a(KOMP)Wtsi} Pkp1^{tm2d(KOMP)Wtsi}	27375112
Growth Retardation, Loss of Desmosomal Adhesion, and Impaired Tight Junction Function Identify a Unique Role of Plakophilin 1 In Vivo.	The Journal of investigative dermatology (March 2016)	Pkp1^{tm2c(KOMP)Wtsi} Pkp1^{tm2a(KOMP)Wtsi} Pkp1^{tm2d(KOMP)Wtsi}	27033150

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pkp1^{tm41613(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pkp1^{tm41613(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pkp1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pkp1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pkp1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pkp1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us