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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 (715 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		Chapped lip, Recurrent skin infections, Scarring, Pruritus, Palmoplantar keratoderma, Nail dystro...	ORPHA:158668
Ectodermal Dysplasia/Skin Fragility Syndrome		Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar...	OMIM:604536

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

Disease	Matching phenotypes	Source
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Aplasia/Hypoplasia of the skin	ORPHA:735
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Ulerythema Ophryogenesis	Acne, Miscarriage, Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyp...	ORPHA:3406
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,...	ORPHA:89838
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule	ORPHA:2337
Palmoplantar Keratoderma, Norrbotten Recessive Type	Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule	ORPHA:409
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, D...	ORPHA:2584
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Periauricular skin pits, Erythema, Atrophic scars, Ski...	ORPHA:79100
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Crusting erythematous dermatitis, Erythema, Palmoplantar hyperkeratosis, Erythematous plaque, Thi...	ORPHA:158673
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Pruritus, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Nail dystrophy, Dermal a...	ORPHA:89843
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy	OMIM:131850
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,...	ORPHA:79399
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis	OMIM:146750
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Sparse hair, Dry sk...	ORPHA:313
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap...	ORPHA:90280
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Pruritus, Crusting erythematous dermatitis, Low anterior hairline...	ORPHA:742
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin	ORPHA:455
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma	ORPHA:312
Erythrokeratodermia Variabilis	Macule, Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Erythema, Patchy pa...	ORPHA:317
Lichen Planopilaris	Alopecia, Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule	ORPHA:525
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body...	ORPHA:64745
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Reticular Dysgenesis	Skin rash, Skin ulcer, Dehydration, Weight loss, Failure to thrive	ORPHA:33355
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis	OMIM:101900
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Pustule, Dehydration, Long eyelashes, Failure to thrive, Papule	OMIM:616069
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos...	ORPHA:79503
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hyperkeratosis, Aplasia/...	ORPHA:238468
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Skin rash, Camptodactyly of finger, Thin skin	ORPHA:1658
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin...	ORPHA:454
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Acrogeria	Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin...	ORPHA:2500
Dermoodontodysplasia	Dry skin, Thin skin, Trichodysplasia	OMIM:125640
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Subcutaneous nod...	ORPHA:231
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin	OMIM:617571
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the ey...	ORPHA:261304
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Harlequin Ichthyosis	Hyperkeratosis, Dehydration, Erythroderma	ORPHA:457
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa...	ORPHA:2985
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Eczema, Thin skin, Sparse body hair	ORPHA:1810
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Dermal atrophy, Alopecia of scalp, Sparse body hai...	OMIM:617294
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph...	ORPHA:542592
Darier Disease	Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Abnormal hair morphology, Plantar pits, P...	ORPHA:218
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl...	OMIM:618531
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Thin skin, Trichodysplasia, Dry skin, Sparse body hair	ORPHA:1660
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Cachexia	ORPHA:2574
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst...	ORPHA:166113
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A...	ORPHA:1366
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
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	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Familial Cold Urticaria	Pruritus, Erythema, Dehydration	ORPHA:47045
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt...	ORPHA:79145
Juvenile Hyaline Fibromatosis	Death in infancy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair...	ORPHA:2028
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Dry skin	OMIM:617364
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Milia, Apla...	ORPHA:79402
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of...	ORPHA:90368
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura	ORPHA:743
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperker...	OMIM:212360
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture, Cutis la...	ORPHA:75496
Transient Neonatal Diabetes Mellitus	Umbilical hernia, Failure to thrive, Small for gestational age, Dehydration	ORPHA:99886
Hereditary Acrokeratotic Poikiloderma	Eczema, Camptodactyly of finger, Pustule, Erythema, Xerostomia, Hypopigmented skin patches, Palmo...	ORPHA:2907
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ...	ORPHA:1979
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Flexion contracture, Elbow flexion contracture, Deh...	OMIM:214150
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Thin skin, Hernia	ORPHA:75497
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Ascites, Palmoplantar keratoderma	ORPHA:2198
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Chromomycosis	Erythematous macule, Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparak...	ORPHA:182
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Cachexia, Dry skin, Fine hair, Sparse or absent eyelashes, Thin skin, Spars...	ORPHA:217346
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Lipoatrophy, Skin nodule, Palmoplantar hyperkeratosis, Corneal stromal edema, ...	OMIM:601812
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Petechiae, Thin skin, Striae distensae	OMIM:225310
Familial Cervical Artery Dissection	Abnormality of connective tissue, Thin skin, Striae distensae	ORPHA:36382
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Lack of skin elasticity, Dry skin	ORPHA:384
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Thin skin	OMIM:259410
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Failure to thrive, Flexion contracture, Thin skin	ORPHA:157965
Arthrochalasia Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Thin skin	ORPHA:1899
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal dental enamel morphology, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Papule	ORPHA:1334
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Edema, Obesity, Facial erythema, Abdominal obesity, Thin skin, Ecchymosis, Hirs...	OMIM:219090
Central Diabetes Insipidus	Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Purpura	ORPHA:745
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:289504
Autosomal Agammaglobulinemia	Recurrent skin infections, Skin rash, Dehydration, Cellulitis, Failure to thrive	ORPHA:33110
Familial Keratoacanthoma	Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer	ORPHA:493
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dry skin, D...	OMIM:150400
Fetal Encasement Syndrome	Omphalocele, Thin skin, Congenital diaphragmatic hernia	OMIM:613630
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro...	OMIM:607823
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Dermal atrophy, Scaling skin	ORPHA:454831
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Cutis laxa, Thin skin, Sparse hair, Umbilical hernia, Failure to thrive	OMIM:219150
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Dehydration	OMIM:618958
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipody...	ORPHA:2348
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Skin vesicle	ORPHA:254478
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy...	ORPHA:163525
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Hypoplastic ...	OMIM:103285
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss	ORPHA:171876
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
Xeroderma Pigmentosum	Macule, Alopecia, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Dry skin, Melanocy...	ORPHA:910
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Lymphatic Malformation 12	Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in a...	OMIM:620014
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	ORPHA:492
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Weight loss	OMIM:143880
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ...	OMIM:612350
Pulmonary Blastoma	Weight loss	ORPHA:64741
Kaposi Sarcoma	Macule, Skin rash, Hypermelanotic macule, Lymphedema, Skin nodule, Weight loss, Skin plaque, Papule	ORPHA:33276
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Inguinal hernia, Thin skin	OMIM:225320
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Xantho...	ORPHA:79083
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Lymphatic Malformation 4	Hyperkeratosis, Cellulitis, Pedal edema, Lymphedema	OMIM:615907
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Erythematous...	OMIM:607602
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Edema, Dehydration	ORPHA:103910
Short Syndrome	Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Absence of subcutaneous f...	OMIM:269880
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Noonan Syndrome 8	Curly hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Webbed neck, Palmo...	OMIM:615355
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc...	ORPHA:2457
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm...	OMIM:308800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Polyhydramnios, Fine ha...	ORPHA:1812
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Skin nodule	ORPHA:199267
Silver-Russell Syndrome 2	Thin skin	OMIM:618905
Bullous Pemphigoid	Macule, Psoriasiform dermatitis, Eczema, Erythema, Weight loss	ORPHA:703
Propionic Acidemia	Failure to thrive, Eczema, Dehydration	OMIM:606054
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita, Flexion contracture, Polyhydramnios	OMIM:612138
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Weight loss	ORPHA:86893
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Cellulitis, Failure to thrive	ORPHA:229717
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Scalin...	OMIM:616295
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Nonimmune hydrops fetalis, Thin skin	OMIM:166210
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ...	OMIM:275210
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Death in adolescence, Dehydration, Death in childhood	OMIM:560000
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Absent eyelashes, Sparse e...	OMIM:305100
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Flexion contracture, Elbow flexion contracture, Fine hair, Cutis laxa, Excessive...	OMIM:614438
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Dehydration	ORPHA:79312
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl...	ORPHA:280365
Werner Syndrome	Sparse scalp hair, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, Miscarriage, Abnor...	ORPHA:902
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Melanocytic nevus, Hypoplastic...	ORPHA:978
Periventricular Nodular Heterotopia	Thin skin, Hernia	ORPHA:98892
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Aplasia cutis congenita, Neonatal death, Skin erosion, Alopecia u...	OMIM:609638
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Focal Dermal Hypoplasia	Omphalocele, Macule, Alopecia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal dental e...	ORPHA:2092
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Aplasia cutis congenita, ...	ORPHA:79411
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos...	OMIM:612281
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Poly...	OMIM:617506
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp...	ORPHA:79133
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Skin rash, Hypopigmented skin patches, Skin ulce...	ORPHA:47
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Nail dystrophy, Thin skin, Erythroderma, Failure to thrive	OMIM:615895
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat...	OMIM:602400
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Dermatofibrosarcoma Protuberans	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:31112
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Tuberculosis	Weight loss	ORPHA:3389
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Small for gestational age, Dehydration, Arthrogryposis multiplex congenita, Fai...	OMIM:208085
Cushing Disease	Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Increased body weight, Recurren...	ORPHA:96253
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion contracture, Cellulitis, Cyst...	OMIM:604416
Carnitine Deficiency, Systemic Primary	Failure to thrive, Dehydration	OMIM:212140
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Eosinophilic Fasciitis	Macule, Fasciitis, Edema, Subcutaneous nodule, Weight loss, Cellulitis, Muscular edema	ORPHA:3165
Recon Progeroid Syndrome	Absent lower eyelashes, Scaling skin, Thin skin, Dry skin, Hirsutism	OMIM:620370
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hiatus hernia,...	ORPHA:1901
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Cellulitis, Erysipelas	ORPHA:79452
Marshall-Smith Syndrome	Failure to thrive, Generalized hirsutism, Thin skin	ORPHA:561
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Scaling skin on fingertip, Honeycomb palmoplantar hyperkeratosis, Palmop...	ORPHA:79395
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro...	OMIM:610768
Pyoderma Gangrenosum	Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule	ORPHA:48104
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure, Sparse hair	ORPHA:659
Warburg-Cinotti Syndrome	Ankle flexion contracture, Erythema, Elbow flexion contracture, Joint swelling, Thin skin, Follic...	OMIM:618175
Progressive Nodular Histiocytosis	Subcutaneous nodule, Papule, Cachexia	ORPHA:158022
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l...	OMIM:145250
Osteootohepatoenteric Syndrome	Pruritus, Failure to thrive, Dehydration, Weight loss	OMIM:619377
De Barsy Syndrome	Inguinal hernia, Lipodystrophy, Cutis laxa, Excessive wrinkled skin, Thin skin, Sparse hair, Umbi...	ORPHA:2962
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Hyperkeratosis, Skin ulcer, Fine hair	ORPHA:1806
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyperker...	OMIM:225400
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Failure to thrive, Lipoatrophy, Aplasia/Hypoplasia of the skin,...	ORPHA:79474
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Dehydration	OMIM:264350
Follicular Lymphoma	Skin nodule, Pleural effusion, Weight loss, Lymphedema	ORPHA:545
Acth-Independent Macronodular Adrenal Hyperplasia	Truncal obesity, Thin skin, Striae distensae	OMIM:219080
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Hyperkeratosis,...	OMIM:604173
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Leukonych...	ORPHA:79151
Epidermolysis Bullosa, Junctional 1B, Severe	Death in infancy, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Enamel hy...	OMIM:226700
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin	ORPHA:230839
Pigmented Nodular Adrenocortical Disease, Primary, 2	Truncal obesity, Thin skin, Striae distensae	OMIM:610475
Flynn-Aird Syndrome	Alopecia, Skin ulcer, Dermal atrophy, Cachexia	ORPHA:2047
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Synophrys, Widow's peak, Upper eyelid edema, Thin skin, Thin eyebrow, Cafe-au-lait spot	OMIM:617804
Stuve-Wiedemann Syndrome 1	Death in infancy, Elbow flexion contracture, Knee flexion contracture, Thin skin, Camptodactyly, ...	OMIM:601559
Prolidase Deficiency	Eczema, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline, Facial hirsutism, F...	OMIM:170100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Lack of skin elasti...	ORPHA:90153
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Eczema, Pruritus, Abnormal hair morphology, Skin ulcer, Cellulitis, Skin vesicle, Dyst...	ORPHA:2314
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration	OMIM:615237
Nodular Non-Suppurative Panniculitis	Aplasia/Hypoplasia of the skin, Edema, Subcutaneous nodule, Erythema, Weight loss, Panniculitis	ORPHA:33577
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Orthokeratosis	OMIM:607936
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Palmoplantar cutis laxa, Umbilical hernia	OMIM:130080
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, Skin ulcer	ORPHA:217390
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Idiopathic Achalasia	Weight loss	ORPHA:930
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scaling skin	OMIM:604777
Free Sialic Acid Storage Disease	Ascites, Failure to thrive in infancy, Hydrops fetalis, Skin ulcer	ORPHA:834
Majeed Syndrome	Inflammatory abnormality of the skin, Acne, Edema, Cachexia, Pustule, Flexion contracture, Weight...	ORPHA:77297
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Dehydration	OMIM:610600
Calciphylaxis	Abnormality of skin physiology, Skin ulcer, Cellulitis	ORPHA:280062
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis	ORPHA:324964
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Beta-Ketothiolase Deficiency	Weight loss, Pallor, Edema, Dehydration	ORPHA:134
Secondary Short Bowel Syndrome	Failure to thrive, Dehydration, Weight loss	ORPHA:95427
Isovaleric Acidemia	Dehydration	OMIM:243500
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Congenital diaphragmatic hernia, Thin skin, Camptodactyly, Failure...	OMIM:617602
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Thin skin, Dermal ...	ORPHA:90154
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration	OMIM:177735
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Pustule, Erythema, Skin ulcer, Weight loss, Dry skin, Fail...	ORPHA:37
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Familial Multiple Nevi Flammei	Hypermelanotic macule, Edema, Skin ulcer, Nevus flammeus, Papule	ORPHA:624
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum, Recurrent skin infections	OMIM:616576
Geroderma Osteodysplastica	Redundant skin, Thin skin, Hernia	ORPHA:2078
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss, Erythematous plaque, Panniculitis, Erythematous papule	ORPHA:86884
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Hi...	ORPHA:1807
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Leishmaniasis	Skin ulcer, Weight loss, Pallor, Skin plaque, Papule	ORPHA:507
Lysosomal Acid Lipase Deficiency	Cachexia, Pruritus, Dehydration, Weight loss, Ascites, Xanthelasma, Xanthomatosis, Failure to thrive	ORPHA:275761
Pigmented Nodular Adrenocortical Disease, Primary, 1	Truncal obesity, Thin skin, Striae distensae	OMIM:610489
Papa Syndrome	Pustule, Acne, Skin ulcer	ORPHA:69126
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Dehydration	ORPHA:556030
Cystinosis	Failure to thrive, Dehydration	ORPHA:213
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrophic scars, Inguinal hernia, Thin skin, Thick eyebrow	ORPHA:230851
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis...	OMIM:606721
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Dehydration	OMIM:251000
Congenital Tufting Enteropathy	Failure to thrive, Dehydration, Weight loss	ORPHA:92050
Reynolds Syndrome	Skin rash, Pruritus, Xerostomia, Skin ulcer, Ascites	ORPHA:779
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Acrofacial Dysostosis Syndrome Of Rodriguez	Thin skin	OMIM:201170
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Inguinal hernia, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Spars...	OMIM:129900
Arterial Tortuosity Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Cutis laxa,...	OMIM:208050
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Synophrys, Atypical scarring of skin, Thin skin, Follicular hyperkeratosis, Umbi...	ORPHA:536545
Glass Syndrome	Inguinal hernia, Long eyelashes, Thin skin, Camptodactyly, Sparse hair	OMIM:612313
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Thin skin, Sparse hair, Dermal translucency	OMIM:612199
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Polyarteritis Nodosa	Erythema, Subcutaneous nodule, Skin ulcer, Weight loss	ORPHA:767
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Redundant skin, Abse...	ORPHA:920
Acquired Purpura Fulminans	Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo...	ORPHA:251393
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Failure to thrive	OMIM:143860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dermal translucency, Multiple joint contractures, Atrophic scars, Thin skin, Dentinogenesis imper...	ORPHA:536467
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Increased body weight, Recurren...	ORPHA:99889
Classic Hodgkin Lymphoma	Pruritus, Skin rash, Weight loss	ORPHA:391
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Numerous nevi, Lymphedema, Flexi...	ORPHA:536471
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Dehydration	OMIM:615453
Incontinentia Pigmenti	Alopecia, Skin rash, Abnormal dental enamel morphology, Supernumerary nipple, Camptodactyly of fi...	ORPHA:464
Reactive Arthritis	Pustule, Enthesitis, Weight loss, Joint swelling, Hyperkeratosis, Dystrophic fingernails	ORPHA:29207
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Thin skin, Sparse hair, Preauricular skin tag, Failure to thrive	OMIM:244450
Multicentric Reticulohistiocytosis	Skin nodule, Cachexia	ORPHA:139436
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin	OMIM:132000
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss, Pallor, Edema, Dehydration	ORPHA:20
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Aplasia cutis congenita, Oligoh...	OMIM:616854
Meier-Gorlin Syndrome 1	Death in infancy, Failure to thrive, Small for gestational age, Flexion contracture, Long eyelash...	OMIM:224690
Adrenal Hypoplasia, Congenital	Failure to thrive, Dehydration	OMIM:300200
Acute Myelomonocytic Leukemia	Pallor, Weight loss	ORPHA:517
Wolcott-Rallison Syndrome	Ascites, Dehydration, Decreased body weight	ORPHA:1667
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Scarring, Erythem...	ORPHA:79396
Buerger Disease	Skin ulcer	ORPHA:36258
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Sparse scalp hair, Failure to thrive, Edema, Cutis laxa, Frontal upsweep of hair, Thin skin, Umbi...	OMIM:266920
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, P...	ORPHA:542643
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Edema, Skin erosion, Dehydration, Skin plaque, Pyoderma, Nai...	ORPHA:79404
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Thin skin	OMIM:112250
Takayasu Arteritis	Subcutaneous nodule, Skin ulcer, Weight loss	ORPHA:3287
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Fa...	OMIM:557000
Juvenile Dermatomyositis	Alopecia, Skin rash, Palpebral edema, Pruritus, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:93672
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Elbow flexion contracture, Knee flexion contracture, Cutis laxa, Thin skin, Spar...	OMIM:151050
Dermatomyositis	Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Edema, Periorbital edema, Pruritus, Eryth...	ORPHA:221
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Drug Reaction With Eosinophilia And Systemic Symptoms	Macule, Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma	ORPHA:139402
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Polyhydramnios, Dehydration	OMIM:616271
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Arterial Tortuosity Syndrome	Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Thin skin	ORPHA:3342
Pseudomyxoma Peritonei	Ascites, Hernia, Weight loss	ORPHA:26790
Holocarboxylase Synthetase Deficiency	Alopecia, Weight loss, Eczema, Perioral eczema	ORPHA:79242
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Aplasia/Hypoplasia of the skin, Dystrophic fingernails, Dystrophic toenail	ORPHA:1657
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Yao Syndrome	Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss	OMIM:617321
Ollier Disease	Subcutaneous nodule, Skin ulcer	ORPHA:296
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Weight loss	ORPHA:65682
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Polyhydramnios, Dehydration	OMIM:214700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Hirsutism, Dehydration	ORPHA:90791
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema...	ORPHA:69735
Brooke-Spiegler Syndrome	Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids	ORPHA:79493
Wilson Disease	Pruritus, Increased body weight, Weight loss, Joint swelling, Failure to thrive	ORPHA:905
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Thin skin	ORPHA:449291
Congenital Muscular Dystrophy Due To Lmna Mutation	Death in infancy, Flexion contracture, Cachexia	ORPHA:157973
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration	OMIM:251110
Poems Syndrome	Lipodystrophy, Edema, Pericardial effusion, Abnormality of skin physiology, Leukonychia, Weight l...	ORPHA:2905
Ataxia-Telangiectasia	Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Premature graying of hair, Multiple caf...	ORPHA:100
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Skin rash, Sparse eyelashes, Alopecia tot...	ORPHA:2909
Eosinophilic Gastroenteritis	Ascites, Atopic dermatitis, Edema, Weight loss	ORPHA:2070
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Thin skin	ORPHA:2719
Cholera	Palmoplantar cutis laxa, Miscarriage, Dehydration	ORPHA:173
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Alternating Hemiplegia Of Childhood	Pallor, Failure to thrive, Thin eyebrow, Dehydration	ORPHA:2131
Toxic Epidermal Necrolysis	Macule, Acantholysis, Erythema, Skin ulcer, Weight loss	ORPHA:537
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E...	ORPHA:3243
Pleural Mesothelioma	Pleural effusion, Weight loss	ORPHA:50251
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin...	ORPHA:257
Isaacs Syndrome	Weight loss	ORPHA:84142
Xfe Progeroid Syndrome	Failure to thrive, Cachexia, Absence of subcutaneous fat, Corneal scarring, Death in adolescence,...	OMIM:610965
Dyskeratosis Congenita	Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Hypermelanotic mac...	ORPHA:1775
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Dehydration	OMIM:251100
Renal Hypoplasia	Small for gestational age, Dehydration	ORPHA:93101
Kikuchi-Fujimoto Disease	Macule, Erythematous macule, Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Skin nodule...	ORPHA:50918
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe...	OMIM:264090
Fusariosis	Fasciitis, Maculopapular exanthema, Subcutaneous nodule, Skin ulcer, Panniculitis, Cellulitis, Pl...	ORPHA:228119
Cronkhite-Canada Syndrome	Alopecia, Cachexia, Lymphedema, Dystrophic toenail, Patchy alopecia, Dystrophic fingernails, Spar...	ORPHA:2930
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Subcutane...	ORPHA:2526
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Kindler Epidermolysis Bullosa	Aplasia/Hypoplasia of the skin, Recurrent skin infections, Abnormal dental enamel morphology, Cam...	ORPHA:2908
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum, Chronic oral candidiasis	OMIM:150550
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Polyhydramnios, Flexion contracture, Neonatal death, Arthrogryp...	OMIM:618186
Oligomeganephronia	Congenital diaphragmatic hernia, Small for gestational age, Dehydration	ORPHA:2260
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Inguinal hernia, Death in infancy, Abnormal dental enamel morphology, Dehydrat...	ORPHA:534
Infantile Myofibromatosis	Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Chondrocalcinosis	ORPHA:2591
Stiff Skin Syndrome	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lack of skin elasticity	ORPHA:2833
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Omphalocele, Redundant skin, Absent eyelashes, Hypoplastic nipple...	OMIM:200110
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Recurrent skin infecti...	ORPHA:3455
Immunoglobulin A Vasculitis	Macule, Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Purpura	ORPHA:761
Aggressive Systemic Mastocytosis	Pruritus, Ascites, Maculopapular exanthema, Weight loss	ORPHA:98850
Shigellosis	Failure to thrive in infancy, Dehydration, Purpura	ORPHA:810
Vipoma	Erythema, Dehydration, Weight loss, Ascites, Subcutaneous lipoma	ORPHA:97282
Christianson Syndrome	Arthrogryposis multiplex congenita, Cachexia, Death in early adulthood, Thick eyebrow	ORPHA:85278
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Papule	ORPHA:556
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypertonic dehydration	OMIM:125800
Helsmoortel-Van Der Aa Syndrome	Obesity, Truncal obesity, Thin skin, High anterior hairline, Failure to thrive	OMIM:615873
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypertonic dehydration	OMIM:304800
Bone Dysplasia, Lethal Holmgren Type	Redundant neck skin, Failure to thrive, Hernia, Weight loss	ORPHA:1842
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Chronic Granulomatous Disease	Macule, Eczema, Skin ulcer, Hypermelanotic macule	ORPHA:379
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Scarring, Pruritus, Palmoplantar keratoderma, Nail dystro...	ORPHA:158668
Isolated Permanent Neonatal Diabetes Mellitus	Dehydration, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita, Failu...	ORPHA:99885
Infantile Systemic Hyalinosis	Camptodactyly of finger, Lymphedema, Subcutaneous nodule, Skin ulcer, Failure to thrive	ORPHA:2176
Thymic Carcinoma	Palpebral edema, Edema, Weight loss	ORPHA:99868
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Pallor, Lymphedema	ORPHA:3226
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Highly arched eyebrow, Asymmetric, linear skin defects, Nail dys...	OMIM:300887
Idiopathic Chronic Eosinophilic Pneumonia	Pleural effusion, Atopic dermatitis, Weight loss	ORPHA:2902
Blau Syndrome	Eczema, Camptodactyly of finger, Erythema nodosum, Intermittent generalized erythematous papular ...	OMIM:186580
Huntington Disease-Like 2	Weight loss	OMIM:606438
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin	ORPHA:1643
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum, Recurrent skin infections, Cellulitis	ORPHA:486
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Miscarriage, Frontal balding, Dehydration, Weight loss, Failure to thrive, Hirsutism	ORPHA:90794
Mulibrey Nanism	Cachexia	ORPHA:2576
Leprosy	Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes...	ORPHA:548
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism	ORPHA:2221
Aicardi-Goutieres Syndrome 9	Chilblains, Edema, Pericardial effusion, Dry skin, Weight loss, Ascites, Failure to thrive	OMIM:619487
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema, Weight loss	ORPHA:168811
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Thin skin	OMIM:166200
Microscopic Polyangiitis	Erythema, Subcutaneous nodule, Skin rash, Skin ulcer	ORPHA:727
Dend Syndrome	Dehydration	ORPHA:79134
Eec Syndrome	Aplasia/Hypoplasia of the skin, Slow-growing hair, Abnormal dental enamel morphology, Sparse eyeb...	ORPHA:1896
Microsporidiosis	Cachexia, Skin nodule, Dehydration, Weight loss	ORPHA:2552
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Hydrops fetalis, Dehydration	ORPHA:79282
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Subcutaneous nodule, Hypopigmented skin patches, Weight loss, Papule, Purpura	ORPHA:183
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Weight loss, Melanocytic nevus, Hype...	ORPHA:79430
Rhabdoid Tumor	Subcutaneous nodule, Weight loss	ORPHA:69077
Colchicine Poisoning	Alopecia, Dehydration	ORPHA:31824
Mcdonough Syndrome	Synophrys, Cachexia	ORPHA:2471
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye...	ORPHA:1787
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:3474
Pyruvate Carboxylase Deficiency	Failure to thrive, Dehydration	ORPHA:3008
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow	ORPHA:3242
Stevens-Johnson Syndrome	Macule, Erythema, Weight loss, Acantholysis	ORPHA:36426
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Systemic Sclerosis	Alopecia, Recurrent skin infections, Cutaneous sclerotic plaque, Pruritus, Digital pitting scar, ...	ORPHA:90291
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Short Syndrome	Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessi...	ORPHA:3163
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Pgm3-Cdg	Recurrent skin infections, Eczema, Atopic dermatitis, Skin ulcer, Failure to thrive, Cutaneous ab...	ORPHA:443811
Hereditary Spherocytosis	Maculopapular exanthema, Pallor, Skin ulcer	ORPHA:822
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Weight loss	ORPHA:411703
Pearson Syndrome	Small for gestational age, Hydrops fetalis, Dehydration, Corneal stromal edema, Cafe-au-lait spot	ORPHA:699
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Scaling skin, Death in childhood, Neonatal death, Dystrophic fingernails, Subungual hyp...	OMIM:308205
Pneumocystosis	Pleural effusion, Weight loss, Chronic oral candidiasis	ORPHA:723
Non-Functioning Paraganglioma	Pallor, Weight loss	ORPHA:94080
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Peripheral Primitive Neuroectodermal Tumor	Pruritus, Ascites, Weight loss	ORPHA:370348
Infantile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411629
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Adams-Oliver Syndrome 2	Aplasia cutis congenita, Alopecia, Low anterior hairline, Oligohydramnios	OMIM:614219
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash, Dermal atrophy, Cachexia	ORPHA:220295
Familial Thrombocytosis	Pruritus, Miscarriage, Weight loss	ORPHA:71493
Wild Type Attr Amyloidosis	Pleural effusion, Weight loss, Pedal edema, Pulmonary edema	ORPHA:330001
Adams-Oliver Syndrome	Alopecia, Aplasia/Hypoplasia of the skin, Ascites, Sparse hair, Aplasia cutis congenita, Failure ...	ORPHA:974
Desmoplastic Small Round Cell Tumor	Ascites, Cachexia, Weight loss	ORPHA:83469
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Knee flexion contracture	ORPHA:3208
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Camptodactyly of finger, Polyhydramnios	ORPHA:2774
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Weight loss, Abnormality of connective tissue, Failure to thrive	ORPHA:79128
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:168558
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Bartter Syndrome Type 4	Small for gestational age, Polyhydramnios, Dehydration, Severe failure to thrive, Failure to thrive	ORPHA:89938
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:289548
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Failure to thrive in infancy, Cachexia	OMIM:616801
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Cystinosis, Nephropathic	Hypopigmentation of hair, Failure to thrive in infancy, Dehydration, Weight loss	OMIM:219800
Barber-Say Syndrome	Aplasia/Hypoplasia of the skin, Redundant skin, Sparse or absent eyelashes, Breast aplasia, Hypop...	ORPHA:1231
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Liposarcoma	Subcutaneous nodule, Weight loss	ORPHA:69078
Xeroderma Pigmentosum Variant	Dry skin, Dermal atrophy	ORPHA:90342
Cryoglobulinemic Vasculitis	Petechiae, Skin ulcer, Purpura	ORPHA:91138
Gm1 Gangliosidosis	Inguinal hernia, Camptodactyly of finger, Hydrops fetalis, Weight loss, Failure to thrive, Genera...	ORPHA:354
Distal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:18
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Subcutaneous nodule, Weight loss	ORPHA:514
Multiple Endocrine Neoplasia Type 1	Dehydration, Weight loss, Large cafe-au-lait macules with irregular margins, Multiple lipomas, Co...	ORPHA:652
Bartter Syndrome, Type 1, Antenatal	Small for gestational age, Polyhydramnios, Dehydration, Failure to thrive, Chondrocalcinosis	OMIM:601678
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Xerostomia, Skin ulcer	ORPHA:220393
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Panniculitis, Purpura	OMIM:615688
Giant Cell Arteritis	Alopecia, Skin ulcer, Weight loss	ORPHA:397
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Celiac Disease, Susceptibility To, 1	Alopecia, Eczema, Weight loss, Enamel hypoplasia, Failure to thrive	OMIM:212750
Rat-Bite Fever	Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill...	ORPHA:31205
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Alopecia, Brittle hair, D...	OMIM:608612
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi...	ORPHA:158684
Marburg Hemorrhagic Fever	Skin rash, Petechiae, Maculopapular exanthema, Dehydration	ORPHA:99826
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lack of skin elasticity, Dermal atro...	OMIM:615381
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic hernia, Hypopigment...	ORPHA:1647
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Nevus, Skin erosion, Flexion contracture, Atypical scarring of skin, D...	ORPHA:89842
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Systemic Capillary Leak Syndrome	Pleural effusion, Weight loss, Pedal edema, Pulmonary edema	ORPHA:188
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Failure to thrive, Polyhydramnios	ORPHA:223
Juvenile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411634
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar...	OMIM:604536
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Pfapa Syndrome	Weight loss	ORPHA:42642
Loeys-Dietz Syndrome	Atypical scarring of skin, Striae distensae, Camptodactyly of finger, Thin skin	ORPHA:60030
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Dermal atr...	ORPHA:3322
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Pustule, Subcutaneous nodule, Cerebral edema, Skin ulcer, Papule	ORPHA:68
Bartter Syndrome, Type 2, Antenatal	Small for gestational age, Polyhydramnios, Dehydration, Failure to thrive, Chondrocalcinosis	OMIM:241200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholysis, Xerostomia, Skin ulcer...	ORPHA:95455
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Aredyld Syndrome	Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Sparse body hair, Aplasia/Hypoplasia of...	ORPHA:1133
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morph...	ORPHA:221008
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	Macule, Alopecia, Inguinal hernia, Redundant skin, Abnormality of hair texture, Abnormal eyelash ...	ORPHA:286
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morph...	ORPHA:221016
Tetrasomy 12P	Sparse hair, Cachexia, Sparse eyebrow	ORPHA:884
Paternal Uniparental Disomy Of Chromosome 6	Umbilical hernia, Dehydration, Oligohydramnios	ORPHA:96191
Restrictive Dermopathy	Multiple joint contractures, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow...	ORPHA:1662
Granulomatosis With Polyangiitis	Skin rash, Periorbital edema, Skin ulcer, Weight loss, Papule, Purpura	ORPHA:900
Primary Myelofibrosis	Cachexia, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Malignant Atrophic Papulosis	Pleural effusion, Dermal atrophy, Papule, Weight loss	ORPHA:679
Adrenocortical Carcinoma	Weight loss, Increased body weight, Striae distensae, Hypertrichosis	ORPHA:1501
Perry Syndrome	Weight loss	ORPHA:178509
Immunodeficiency 27A	Weight loss	OMIM:209950
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,...	ORPHA:37042
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pruritus, Pallor, Weight loss	ORPHA:98849
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Ménétrier Disease	Peripheral edema, Weight loss	ORPHA:2494
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Cachexia	ORPHA:1933
Focal Myositis	Weight loss	ORPHA:48918
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Wolman Disease	Ascites, Cachexia	ORPHA:75233
Felty Syndrome	Subcutaneous nodule, Weight loss, Cellulitis	ORPHA:47612
Rheumatoid Arthritis	Joint swelling, Weight loss	OMIM:180300
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Genital hernia, Cystocele, Subcutaneous nodule, Atypical scarring of skin, Thin ...	ORPHA:285
Blau Syndrome	Skin rash, Camptodactyly of finger, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swe...	ORPHA:90340
Proximal Renal Tubular Acidosis	Failure to thrive, Enamel hypomineralization, Dehydration	ORPHA:47159
Catastrophic Antiphospholipid Syndrome	Miscarriage, Skin ulcer	ORPHA:464343
Polycythemia Vera	Pruritus, Weight loss	ORPHA:729
Glucagonoma	Skin rash, Necrolytic migratory erythema, Pruritus, Weight loss, Ascites, Subcutaneous lipoma	ORPHA:97280
Leukocyte Adhesion Deficiency, Type I	Skin ulcer, Chronic mucocutaneous candidiasis	OMIM:116920
Autosomal Recessive Multiple Pterygium Syndrome	Inguinal hernia, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Nevus, Low posterior ha...	ORPHA:2990
Q Fever	Maculopapular exanthema, Pericardial effusion, Weight loss, Pleural effusion, Purpura	ORPHA:781
Dominant Beta-Thalassemia	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231226
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Pedal edema, Weight loss	ORPHA:49041
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Cachexia	ORPHA:42
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Xerostomia, Nail dystrophy, Cachexia	OMIM:175500
Erdheim-Chester Disease	Skin rash, Weight loss, Joint swelling, Xanthelasma, Pleural effusion	ORPHA:35687
Pyomyositis	Recurrent cutaneous abscess formation, Subcutaneous nodule, Weight loss	ORPHA:764
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Flexion contracture, Xerostomia, Intermittent generalized erythematous papul...	ORPHA:99921
Lyme Disease	Joint swelling, Skin nodule, Dermal atrophy	ORPHA:91546
Caroli Disease	Pruritus, Ascites, Weight loss	ORPHA:53035
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Cystic Fibrosis	Failure to thrive, Dehydration	OMIM:219700
Acute Promyelocytic Leukemia	Ecchymosis, Purpura, Petechiae, Weight loss	ORPHA:520
Hajdu-Cheney Syndrome	Inguinal hernia, Synophrys, Low anterior hairline, Skin ulcer, Dry skin, Coarse hair, Hernia, Umb...	ORPHA:955
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Neuroblastoma, Susceptibility To, 1	Skin nodule, Failure to thrive, Weight loss	OMIM:256700
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Primary Hepatic Neuroendocrine Carcinoma	Erythematous plaque, Ascites, Weight loss	ORPHA:100085
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Abnormality of body weight, Increased body weight, Weight loss, Decreased bo...	ORPHA:2298
Chronic Beryllium Disease	Weight loss	ORPHA:133
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Simple Cryoglobulinemia	Purpura, Localized skin lesion, Acral ulceration, Weight loss	ORPHA:91139
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Dermal atrophy	OMIM:278800
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Lymphedema, Subcutaneous nodule, Multiple cafe-au-lait spots, Nevus, Lipoma	ORPHA:109
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Polyhydramnios, Nail dystrophy, Aplasia cutis congenita, Enamel hypopl...	ORPHA:79403
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Aicardi-Goutieres Syndrome 7	Skin rash, Chilblains, Edema, Pericardial effusion, Atopic dermatitis, Weight loss, Oligohydramnios	OMIM:615846
Silver-Russell Syndrome	Failure to thrive in infancy, Shoulder dimple, Cachexia, Obesity, Cafe-au-lait spot	ORPHA:813
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Nail dystrophy, Skin ulcer, Amelogenesis imperfecta	OMIM:245660
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Granulomatosis With Polyangiitis	Skin ulcer, Weight loss	OMIM:608710
Beta-Thalassemia Major	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint swelling, Weight loss	ORPHA:465508
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Cap Polyposis	Weight loss	ORPHA:160148
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic...	OMIM:601345
Imerslund-Gräsbeck Syndrome	Failure to thrive, Pallor, Weight loss	ORPHA:35858
Plague	Chapped lip, Skin rash, Edema, Erythema nodosum, Localized skin lesion, Skin ulcer, Dry skin	ORPHA:707
Budd-Chiari Syndrome	Ascites, Weight loss	ORPHA:131
Immunodeficiency 31C	Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo...	OMIM:614162
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Cutis Marmorata Telangiectatica Congenita	Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, Skin erosion, Ascites, P...	ORPHA:1556
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Polymyositis	Chondrocalcinosis, Weight loss	ORPHA:732
Alveolar Echinococcosis	Weight loss, Pedal edema, Cutaneous abscess	ORPHA:284
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Weight loss	ORPHA:276621
Wiskott-Aldrich Syndrome	Petechiae, Eczema, Skin ulcer, Purpura	ORPHA:906
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
X-Linked Creatine Transporter Deficiency	Redundant skin, Cachexia	ORPHA:52503
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Synophrys, Obesity	ORPHA:85293
8P23.1 Microdeletion Syndrome	Obesity, Congenital diaphragmatic hernia, Weight loss	ORPHA:251071
Primary Sjögren Syndrome	Erythema nodosum, Xerostomia, Skin ulcer, Dry skin, Lichenoid skin lesion, Purpura	ORPHA:289390
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Desmosterolosis	Aplasia/Hypoplasia of the skin, Failure to thrive, Dermal atrophy	ORPHA:35107
Mucolipidosis Type Ii	Hip contracture, Dry hair, Inguinal hernia, White hair, Knee flexion contracture, Fine hair, Weig...	ORPHA:576
Lynch Syndrome	Death in infancy, Flexion contracture, Death in early adulthood, Weight loss	ORPHA:144
Loeffler Endocarditis	Weight loss	ORPHA:75566
Al Amyloidosis	Peripheral edema, Xerostomia, Weight loss	ORPHA:85443
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Hip contracture, Inguinal hernia, Decreased body weight, Shoulder fl...	ORPHA:800
Amoebiasis Due To Entamoeba Histolytica	Pleural effusion, Pleural empyema, Weight loss	ORPHA:67
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Barber-Say Syndrome	Dermal translucency, Absent nipple, Sparse eyelashes, Lipodystrophy, Redundant skin, Sparse eyebr...	OMIM:209885
Perry Syndrome	Weight loss	OMIM:168605
Infantile Krabbe Disease	Failure to thrive, Hypopigmented skin patches, Cachexia	ORPHA:206436
Toriello-Lacassie-Droste Syndrome	Aplasia/Hypoplasia of the skin, Failure to thrive, Polyhydramnios	ORPHA:3339
Hereditary Amyloidosis With Primary Renal Involvement	Purpura, Petechiae, Weight loss	ORPHA:85450
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Foot joint contracture, Flexion contracture, Atrophic scars, Palmoplan...	ORPHA:79408
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Hernia, Webbed n...	ORPHA:3380
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Late-Onset Isolated Acth Deficiency	Failure to thrive, Dry skin, Weight loss	ORPHA:199299
Cystic Echinococcosis	Localized skin lesion, Weight loss	ORPHA:400
Kindler Syndrome	Dermal atrophy, Diffuse skin atrophy, Spotty hypopigmentation, Palmoplantar hyperkeratosis	OMIM:173650
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a...	OMIM:248370
Brucellosis	Small for gestational age, Miscarriage, Weight loss, Erythematous papule, Cutaneous cyst, Pleural...	ORPHA:1304
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Small for gestational age, Abnormal hair morpholog...	OMIM:133540
Oromandibular Dystonia	Weight loss	ORPHA:93958
Dysosteosclerosis	Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology	ORPHA:1782
Adams-Oliver Syndrome 5	Inguinal hernia, Aplasia cutis congenita, Cutis marmorata telangiectatica congenita, Umbilical he...	OMIM:616028
Postinfectious Vasculitis	Palpable purpura, Inflammatory abnormality of the skin, Subcutaneous nodule, Weight loss	ORPHA:48435
Nocardiosis	Subcutaneous nodule, Weight loss, Cellulitis, Pleural effusion, Cutaneous abscess	ORPHA:31204
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Upper-limb joint contracture, Cachexia	ORPHA:300605
Behçet Disease	Acne, Subcutaneous nodule, Weight loss, Pleural effusion, Papule	ORPHA:117
Nephroblastoma	Weight loss	ORPHA:654
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Acral ulceration, Nail dystrophy, Corneal scarring	OMIM:256800
Whipple Disease	Cachexia, Pedal edema	ORPHA:3452
Primary Sclerosing Cholangitis	Pruritus, Pleural effusion, Ascites, Weight loss	ORPHA:171
Parkes Weber Syndrome	Scaling skin, Erythematous plaque, Capillary malformation, Skin ulcer	ORPHA:90307
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Death in early adulthood, Slender build, Cachexia, Weight loss	OMIM:603041
Proteus Syndrome	Epidermal nevus, Abnormal dental enamel morphology, Cachexia, Lymphedema, Abnormal subcutaneous f...	ORPHA:744
Acute Adrenal Insufficiency	Dry skin, Failure to thrive, Sparse axillary hair, Weight loss	ORPHA:95409
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Ankle flexion contracture, Polyhydramnios, Flexion contractur...	ORPHA:2020
Fatal Familial Insomnia	Weight loss	OMIM:600072
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Weight loss	ORPHA:29072
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Sarcoidosis	Alopecia, Maculopapular exanthema, Scarring, Erythema nodosum, Skin nodule, Subcutaneous nodule, ...	ORPHA:797
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Loss of eyelashes, Absence of subcutaneo...	ORPHA:740
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Weight loss	OMIM:613673
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Skin rash, Weight loss	OMIM:301074
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Gallbladder Neuroendocrine Tumor	Ascites, Weight loss	ORPHA:100086
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Ascites, Acral ulceration, Corneal scarring	OMIM:256810
Immunodeficiency 82 With Systemic Inflammation	Recurrent skin infections, Skin rash, Weight loss, Postauricular pit, Joint swelling, Pustular rash	OMIM:619381
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Joint swelling, Flexion contracture, Enthesitis	ORPHA:85408
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Weight loss, Pallor, Abnormal hair quantity	ORPHA:91347
Castleman Disease	Anasarca, Weight loss	ORPHA:160
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ...	OMIM:268400
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Riddle Syndrome	Erythema, Scaling skin, Weight loss	ORPHA:420741
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Congenital diap...	ORPHA:2556
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Familial Colorectal Cancer Type X	Flexion contracture, Weight loss	ORPHA:440437
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Thymoma	Weight loss	ORPHA:99867
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ecchymosis, Skin ulcer, Cachexia	ORPHA:2072
Ppoma	Ascites, Subcutaneous lipoma, Weight loss	ORPHA:97278
Rett Syndrome	Cachexia	OMIM:312750
Scalp-Ear-Nipple Syndrome	Palpebral edema, Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Patchy alo...	OMIM:181270
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Weight loss	ORPHA:309031
Fanconi Anemia	Hypopigmented skin patches, Weight loss, Multiple cafe-au-lait spots, Umbilical hernia, Oligohydr...	ORPHA:84
Xeroderma Pigmentosum, Complementation Group A	Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus	OMIM:278700
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Oculoectodermal Syndrome	Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Lymphedema, Preauricular skin tag	OMIM:600268
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Addison Disease	Dry skin, Failure to thrive, Sparse axillary hair, Weight loss	ORPHA:85138
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Dry hair, Cachexia, Fine hair, Contractures of the large joi...	ORPHA:191
Somatostatinoma	Ascites, Subcutaneous lipoma, Weight loss	ORPHA:97283
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Zollinger-Ellison Syndrome	Lipoma, Multiple lipomas, Erythema, Weight loss	ORPHA:913
African Trypanosomiasis	Erythematous macule, Alopecia, Miscarriage, Pruritus, Weight loss	ORPHA:3385
Grfoma	Ascites, Subcutaneous lipoma, Weight loss	ORPHA:97261
Ileal Neuroendocrine Tumor	Edema, Weight loss	ORPHA:100078
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Multiple Myeloma	Pleural effusion, Weight loss	ORPHA:29073
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Cachexia, Melanocytic nevus	ORPHA:1969
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Aplasia/Hypoplasia of the skin, Femoral hernia, Abnormal dental enamel morpholog...	ORPHA:2658
Seckel Syndrome	Sparse scalp hair, Abnormal dental enamel morphology, Cachexia	ORPHA:808
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Tubulointerstitial Nephritis And Uveitis Syndrome	Skin rash, Weight loss, Macular edema, Chorioretinal scar, Cystoid macular edema	ORPHA:91500
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Skin dimple, Hydromyelia, Lipoma, Hypertrichosis	ORPHA:573278
Klatskin Tumor	Weight loss	ORPHA:99978
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Pedal edema, Weight loss	ORPHA:449395
Pulmonary Alveolar Microlithiasis	Peripheral edema, Weight loss	ORPHA:60025
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
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, Xerostomia, Palpebral edema, Weight loss	ORPHA:79078
Marfan Syndrome	Inguinal hernia, Slender build, Cachexia, Striae distensae	ORPHA:558
Nijmegen Breakage Syndrome	Abnormal hair quantity, Low anterior hairline, Cachexia, Abnormal hair morphology	ORPHA:647
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Leukocyte Adhesion Deficiency	Recurrent skin infections, Perianal abscess, Pyoderma gangrenosum, Nail dystrophy, Chronic oral c...	ORPHA:2968
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Weight loss	OMIM:181000
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
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
Branchiooculofacial Syndrome	Preauricular pit, Supernumerary nipple, Lower lip pit, Elbow flexion contracture, Dermoid cyst, L...	OMIM:113620
Camurati-Engelmann Disease	Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia	ORPHA:1328
Malt Lymphoma	Weight loss	ORPHA:52417
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia	ORPHA:828
Tropical Endomyocardial Fibrosis	Cachexia, Peripheral edema, Ascites, Pedal edema	ORPHA:75565
Choreoacanthocytosis	Weight loss	ORPHA:2388
Goodpasture Syndrome	Pallor, Weight loss	OMIM:233450
Norrie Disease	Failure to thrive, Cachexia	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

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