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Gene: Sav1 MGI:1927144

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
salvador family WW domain containing 1
Synonyms:
1700040G09Rik,  Salv,  WW45

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 Sav1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sav1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Netherton Syndrome
Hypernatremic dehydration, Recurrent respiratory infections, Parakeratosis, Villous atrophy, Recu... OMIM:256500
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Dehydration, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Gonadoblastoma
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... ORPHA:206484
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Oslam Syndrome
Osteosarcoma ORPHA:2760
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma OMIM:601811
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm,... ORPHA:166113
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Premature Ovarian Failure 8
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:615723
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Secretory diarrhea, Bronchi... OMIM:619445
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... ORPHA:90368
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... ORPHA:79395
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis, Hamartoma ORPHA:139414
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Chordee, Gonadoblastoma, Clitoral hy... OMIM:613762
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt... OMIM:242300
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Woolly hair, Diarrhea, Chronic diarrhea, Bloody diar... OMIM:614602
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting, Protein-losing enteropathy, Villous atrophy OMIM:615863
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... OMIM:615821
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism, Delayed puberty ORPHA:2297
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm ORPHA:2221
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... ORPHA:64745
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Nail dystroph... ORPHA:100976
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... ORPHA:137608
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Parana Hard Skin Syndrome
Short stature, Thickened skin, Growth delay, Hyperkeratosis, Generalized hirsutism ORPHA:2812
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Pruritu... OMIM:607626
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans OMIM:618527
Anonychia With Flexural Pigmentation
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Follicular hyperkeratosis, Alop... ORPHA:69125
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Furrowed tongue, Nail dystrophy, Ge... OMIM:614204
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... ORPHA:731
Frasier Syndrome
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism OMIM:136680
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Skin rash, Diffuse alveolar hemorrhage, Secretory diarrhea, Enter... OMIM:616050
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Neoplasm, Neoplasm of the skin ORPHA:315
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super... ORPHA:284426
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis ORPHA:83453
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis ORPHA:158681
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Abnormal lung morphology, Hyper... ORPHA:182
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Hepatic fib... OMIM:602579
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Carcinoma, Squamous cell carcinoma, Palmoplantar keratoderma, Nail dystrophy, Foll... OMIM:615225
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Skin rash, Maculopapular exanthema, C... ORPHA:398124
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Aquagenic Palmoplantar Keratoderma
Recurrent sinopulmonary infections, Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palm... ORPHA:498359
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... OMIM:607602
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:277700
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Eczema, Chronic diarrhea, Growth delay, Vomiti... OMIM:619510
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus OMIM:618084
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Edema, Disseminated cutaneous warts, Pericardia... ORPHA:90362
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma OMIM:614328
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... ORPHA:314478
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Fanconi Anemia, Complementation Group S
Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm OMIM:617883
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... ORPHA:370348
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... OMIM:209920
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Lymphoma, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm... ORPHA:454
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... ORPHA:505
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Microvillus Inclusion Disease
Villous atrophy, Pruritus, Diarrhea, Dehydration, Abnormal small intestinal villus morphology ORPHA:2290
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, Optic atrophy, High palate, Vomiting, Bifid uvula OMIM:601110
Lichen Planopilaris
Alopecia, Pruritus, Hepatitis, Hyperkeratosis, Abnormal intestine morphology, Neoplasm of the ora... ORPHA:525
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm ORPHA:231632
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Cowden Syndrome 1
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... OMIM:158350
Chylomicron Retention Disease
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, Vomiting, Stea... OMIM:246700
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Lipoid Proteinosis
Recurrent respiratory infections, Nasal polyposis, Acne, Pustule, Thickened skin, Hyperkeratosis,... ORPHA:530
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Inflammatory abnormality of the skin, Malabsorpti... ORPHA:398063
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology, Intrahepatic cholestasis, Ichthyosis ORPHA:171851
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Alopecia, Eosinophilia, Eczema, Chronic diarrhea, Ileus, Hepatitis, Erythroderma OMIM:304790
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis ORPHA:89838
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hyperkeratosis, Ichth... ORPHA:281090
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Psoriasiform dermatitis, Chronic oral candidia... OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Lymphoproliferative disord... OMIM:614700
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Pruritus, Microves... OMIM:619377
Immunodeficiency 31C
Recurrent respiratory infections, Villous atrophy, Chronic oral candidiasis, Short stature, Eczem... OMIM:614162
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen... ORPHA:1333
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Alopecia, Malabsorption, Lymphoma, Growth dela... ORPHA:100025
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Short stature, Hyperkeratosis, Mild intrauterine growth retardation, Con... OMIM:308050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seb... ORPHA:83617
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology, Intrahepatic cholestasis, Ichthyosis ORPHA:209981
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... ORPHA:249
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Furrowe... ORPHA:1839
Punctate Palmoplantar Keratoderma Type 1
Brain neoplasm, Palmoplantar hyperkeratosis, Squamous cell carcinoma, Prostate cancer, Adenocarci... ORPHA:79501
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption, Villous atrophy OMIM:600955
Ectodermal Dysplasia/Short Stature Syndrome
Short stature, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dy... OMIM:616029
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, B-cell lymphoma, Burkitt lymphoma OMIM:620232
Ramon Syndrome
Abnormality of retinal pigmentation, Gingival fibromatosis, Narrow palate, Hyperkeratosis, Genera... ORPHA:3019
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis,... ORPHA:317
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Rothmund-Thomson Syndrome Type 1
Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Hypogona... ORPHA:221008
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Diamond-Blackfan Anemia 21
Osteosarcoma OMIM:620072
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund... OMIM:619991
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Keratoderma Hereditarium Mutilans
Alopecia, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis ORPHA:494
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Edema, Cutaneous T-cell lymphoma, Pruritus, Lymphoma, ... ORPHA:2584
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Brittle hair, Short stature, Curly hair, Polyhydramnios, Large pla... OMIM:222470
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Ulerythema Ophryogenesis
Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow ORPHA:3406
Rothmund-Thomson Syndrome Type 2
Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma... ORPHA:221016
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Brittle hair, Gastritis, Short stature, Hepatoblastoma, Hypopigmen... ORPHA:84064
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Sclerodactyly OMIM:212360
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Cholelithiasis, Jaundice OMIM:224100
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... ORPHA:1359
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... ORPHA:480536
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Macular degeneration, ... ORPHA:1573
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Nonimmune hydrops fetalis, Edema, P... OMIM:212065
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Short stature ORPHA:2574
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair OMIM:618625
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Follicular hyperkeratosis, C... OMIM:615147
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:617571
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... ORPHA:521219
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Short stature, Hyperkeratosis, Macular degeneration, Ichthyo... ORPHA:816
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Rod-cone dystrophy, Alopecia of scalp OMIM:136300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Hypogonadism, Annular pancreas, Os... OMIM:268400
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis, Neurofibroma ORPHA:79100
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Short stature, Eczema, Oropharyngeal squam... ORPHA:391487
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Hepatomegaly, Elevate... OMIM:619573
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Bilateral cryptorchidism, Optic atrophy, Melanoma OMIM:278800
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Esophageal varix, Optic atrophy, C... OMIM:614576
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Thickened skin OMIM:247100
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Eczema, Optic atrophy, Dysphagia, Hyperkeratosis, Ichthyosis, Hype... OMIM:612379
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural thickening, Hydroce... OMIM:620014
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Short stature, Trichoschisis, Malabsorption, Chronic diarrh... OMIM:601675
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... ORPHA:587
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... OMIM:109400
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess... ORPHA:100079
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... OMIM:557000
Schopf-Schulz-Passarge Syndrome
Poroma, Squamous cell carcinoma, Hyperkeratosis, Basal cell carcinoma, Palmoplantar keratoderma, ... OMIM:224750
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Alpha-Thalassemia
Myelodysplasia, Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Cryptorchidism, High palate, Gastroesophageal reflux, Follicula... ORPHA:486815
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Alg9-Cdg
Hepatomegaly, Villous atrophy, Rhizomelia, Pericardial effusion, Diarrhea, Abnormal lung lobation... ORPHA:79328
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod... ORPHA:312
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Nail dystrophy ORPHA:89843
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Myelodysplasia, Adenocarcinoma of the colon, Malignant genit... ORPHA:124
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Atypical Werner Syndrome
Renal neoplasm, Hepatic steatosis, Ovarian neoplasm, Neoplasm of the lung, Hypogonadism, Neoplasm... ORPHA:79474
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Dowling-Degos Disease
Pruritus, Keratoacanthoma, Hyperkeratosis, Anal margin squamous cell carcinoma, Hyperkeratotic pa... ORPHA:79145
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Proteus Syndrome
Lipoma, Hyperkeratosis, Hemangioma, Multiple lipomas OMIM:176920
Lamellar Ichthyosis
Recurrent respiratory infections, Short stature, Pruritus, Erythroderma, Dehydration, Hyperkerato... ORPHA:313
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Dehydration,... OMIM:615237
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Hyperkeratosis Lenticularis Perstans
Pruritus, Basal cell carcinoma, Hyperkeratosis lenticularis perstans, Squamous cell carcinoma ORPHA:409
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Gastritis, Duodenal ulcer, Bronchitis, Pneumonia, Skin rash, Recurrent skin infe... OMIM:619381
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hyperkeratosis, Colitis, Frontal upsweep o... OMIM:301220
Vascular Hyalinosis
Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protein-losing enteropathy, Cho... OMIM:277175
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Multiple li... ORPHA:1414
Crouzon Syndrome
Dysgerminoma OMIM:123500
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ov... ORPHA:276280
Apert Syndrome
Ovarian neoplasm ORPHA:87
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Astrocytoma, Neoplasm of the central nervous system, Hyperkeratosis, Retinopat... ORPHA:2611
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Ichthyosis ORPHA:461
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Edema, Malabsorption, Diarrhea, Atopic d... ORPHA:2070
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... OMIM:613576
Diamond-Blackfan Anemia 1
Basal cell carcinoma, Myelodysplasia, Osteosarcoma OMIM:105650
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Costello Syndrome
Short stature, Polyhydramnios, Abnormal hair morphology, Cryptorchidism, Narrow palate, Macroglos... ORPHA:3071
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Cryptorchidism, Diarrhea, Cholestasis, Vomiting, Protein-losing enteropathy,... OMIM:608104
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... OMIM:602400
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... OMIM:148700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hyperkeratosis, Optic atrophy, Lymphedema ORPHA:79279
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Harlequin Ichthyosis
Recurrent respiratory infections, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosi... ORPHA:457
Alg6-Cdg
Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Rod-cone dystrophy,... ORPHA:79320
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Hepatic failure, Dysphagia, Hepatospleno... OMIM:608013
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Thickened skin, Ocular albi... ORPHA:79430
Noonan Syndrome 8
Curly hair, Short stature, Eczema, Polyhydramnios, Cryptorchidism, Hyperkeratosis, Pleural effusion OMIM:615355
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Hyperkeratosis, A... ORPHA:79452
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Follic... OMIM:616295
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Pachyonychia Congenita 1
Oral leukoplakia, Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Ichthyosis Prematurity Syndrome
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alopec... OMIM:608649
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Gastroesophageal reflux ORPHA:36386
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... ORPHA:2126
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Portal hypertension, Diarrhea, Vomiting, Protei... ORPHA:79319
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... OMIM:615710
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma OMIM:617100
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Follicular hyperkeratosis OMIM:617066
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Spontaneous pneumothorax, Polyhydramnios, Lymphedema, Synophrys, Hydrocele testis, Protein-losing... OMIM:618154
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Prolidase Deficiency
Abnormality of retinal pigmentation, Recurrent respiratory infections, Hepatomegaly, Pruritus, Cr... ORPHA:742
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Furrowed tongu... OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Hypergranulosis, Abnormal hair morphology, Growth delay, Hyperkeratosis, Congenital ich... OMIM:242100
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Leopard Syndrome 3
Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairline, Growth delay, Hyperk... OMIM:613707
Pachyonychia Congenita
Alopecia, Steatocystoma multiplex, Linear arrays of macular hyperkeratoses in flexural areas, Pal... ORPHA:2309
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Pruritus, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice,... OMIM:601847
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Sparse hair ORPHA:1883
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Short stature, Skin rash, Edema, Sparse eyebrow, Recurrent bronchopulmona... OMIM:604173
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Familial Adenomatous Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Hyperkeratosis, Multiple enchondr... OMIM:620189
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma OMIM:610474
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Protein-losing enteropathy OMIM:613502
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Follicular hyperkerato... ORPHA:1809
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... ORPHA:2269
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Spherocytosis, Type 1
Splenomegaly, Cholelithiasis, Jaundice OMIM:182900
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma OMIM:612591
Reactive Arthritis
Abnormal pleura morphology, Pustule, Diarrhea, Hyperkeratosis, Inflammation of the large intestin... ORPHA:29207
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ... OMIM:261515
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyp... ORPHA:79431
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Cardiofaciocutaneous Syndrome
Brittle hair, Lymphedema, High palate, Sparse hair, Dystrophic fingernails, Short stature, Abnorm... ORPHA:1340
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Hypercholanemia, Familial 1
Pruritus, Fat malabsorption, Steatorrhea OMIM:607748
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... ORPHA:77301
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, Vomiting, P... OMIM:175500
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... ORPHA:90291
Donohue Syndrome
Postnatal growth retardation, Cholestasis, Hyperkeratosis, Ovarian cyst, Hepatic fibrosis, Acanth... OMIM:246200
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... ORPHA:744
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Short stature OMIM:615279
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Growth delay, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis OMIM:614457
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous c... OMIM:158310
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease... ORPHA:79327
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Short stature, Retinal dystrophy, Eczema, Pancreatic steatosis, Cryptorch... OMIM:617052
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonad... ORPHA:273
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Short stature, Recurrent skin infections, Pruritus, Abnormal tongue morphology, Chro... ORPHA:158668
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Alopecia, Short stature, Eosinophilia, Maculopapular... OMIM:308300
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Esophageal stenosis, High anterior hairline, Hyperkeratosis, Dysphagia, Achalasia OMIM:615510
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... OMIM:300048
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Hyperkeratosis, Aplasia/Hypoplasia... ORPHA:238468
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis ORPHA:254478
Sialidosis Type 1
Retinopathy, Hyperkeratosis, Cherry red spot of the macula, Short stature ORPHA:812
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Folliculitis, Palmoplantar keratode... OMIM:308800
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... OMIM:606545
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Polyhydramnios, Absent eyelashes, S... OMIM:115150
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Hyper... OMIM:610768
Czech Dysplasia
Osteochondroma OMIM:609162
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles... OMIM:613610
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Skin rash, Pustule, Hyperkeratosis, Joint swelling, Pulmonary fibrosis, Stomatitis OMIM:612852
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis... ORPHA:1005
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Intrauterine growth retardation, Rhizomelia, Short stature ORPHA:163966
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Neoplasm of the nervous ... ORPHA:100086
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Diarrh... ORPHA:71
Odontoonychodermal Dysplasia
Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Hypergranulosis, Sparse eyebrow,... OMIM:257980
Scedosporiosis
Unusual skin infection, Pneumonia, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pleuritis, Ab... ORPHA:449280
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Furrowed tongue, Palmoplantar keratoderma, Nail dystrophy, F... OMIM:615726
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma... ORPHA:2908
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... ORPHA:79303
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Optic atrophy, Erythroderma OMIM:609180
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Noonan Syndrome 2
Curly hair, Short stature, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Increased nuchal trans... OMIM:605275
Ramon Syndrome
Optic disc pallor, Short stature, Gingival fibromatosis, Narrow palate, Hyperkeratosis, Pigmentar... OMIM:266270
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Short stature, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1806
Incontinentia Pigmenti
Retinal detachment, Alopecia, Abnormal chorioretinal morphology, Short stature, Eosinophilia, Ski... ORPHA:464
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Familial Keratoacanthoma
Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma ORPHA:493
Ullrich Congenital Muscular Dystrophy 1
Recurrent lower respiratory tract infections, High palate, Follicular hyperkeratosis OMIM:254090
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... OMIM:613658
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... OMIM:613102
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Nonimmune hydrops fetalis, Sparse e... OMIM:137940
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Hyperkeratosis, Interstitial pneumonitis, Vomiting ORPHA:454831
Noonan Syndrome 10
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Hyperke... OMIM:616564
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Short stature, Eczema, Polyhydramnios, Cryptorchidism, Hyperkerato... OMIM:607721
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Neonatal death, Dystrophic fingernails, Subungual hyperkeratos... OMIM:308205
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Skin rash, Pruritus, Hepatitis, Hyperkeratosis ORPHA:1334
Leprechaunism
Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Thickened sk... ORPHA:508
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Cryp... OMIM:235510
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... OMIM:175200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Polyhydramnios, Lymphedema, Cryptorchidism, Pancreatic lymphangiectasis, Pulmonary ... OMIM:235255
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Short stature, Trichiasis, Cleft palate, Hyperkeratosis, Trichodysplasia OMIM:601701
Naxos Disease
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis ORPHA:79095
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Fabry Disease
Short stature, Malabsorption, Lymphedema, Emphysema, Optic atrophy, Hyperkeratosis, Delayed puber... ORPHA:324
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Combined Immunodeficiency-Enteropathy Spectrum
Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess ORPHA:436252
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Hyperkeratosis, Malar rash ORPHA:163525
Whim Syndrome
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre... ORPHA:51636
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Palmoplantar hyperkeratosis, Growth delay, Follicular hyperkerat... OMIM:617388
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangie... ORPHA:1655
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dys... OMIM:610644
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... ORPHA:217253
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Thickened skin, Hypoplasia of the small int... OMIM:200995
Tolchin-Le Caignec Syndrome
Osteochondroma, Precocious puberty, Cardiac rhabdomyoma OMIM:618971
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... OMIM:249000
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, High, narrow palate, Diarrhea, Rectal prolapse, Adeno... ORPHA:79076
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... ORPHA:100085
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Cog8-Cdg
Elevated hepatic transaminase, Protein-losing enteropathy ORPHA:95428
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... ORPHA:171
Eec Syndrome
Short stature, Decreased response to growth hormone stimulation test, Slow-growing hair, Sparse e... ORPHA:1896
Oculoskeletodental Syndrome
Hepatomegaly, Short stature, Cryptorchidism, Low anterior hairline, Low posterior hairline, Macro... OMIM:618440
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Restrictive Dermopathy
Short nail, Polyhydramnios, Epidermal hyperkeratosis, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Singleton-Merten Syndrome 2
Hyperkeratosis, Short stature OMIM:616298
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Chime Syndrome
Cleft palate, Acute leukemia, Fine hair, Hyperkeratosis, Retinal coloboma, Ichthyosis, Sparse hair ORPHA:3474
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly ORPHA:3166
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract infection... OMIM:618183
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Sparse scalp hair, Absence of Stensen duct, Decreased response ... OMIM:129900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... ORPHA:1018
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone s... OMIM:604292
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619534
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Rib exostoses, Scapular exostoses ORPHA:321
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Xeroderma Pigmentosum
Alopecia, Short stature, Cryptorchidism, Thickened skin, Optic atrophy, Hyperkeratosis, Melanoma,... ORPHA:910
Premature Aging Syndrome, Penttinen Type
Thickened skin, Hypermyelinated retinal nerve fibers, Palmoplantar hyperkeratosis, Corneal stroma... OMIM:601812
Congenital Tracheal Stenosis
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Abnormal lung morphology, Abnormal lu... ORPHA:141127
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp... ORPHA:186
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Orchitis, Abnormal lung morphology, Hypereosinop... ORPHA:2035
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ... OMIM:275210
Mycetoma
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis ORPHA:2583
Visceral Myopathy 1
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Polyhydramnios, Diarrhea, Vo... OMIM:155310
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Sickle Cell Disease
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Tarp Syndrome
Abnormal hair pattern, Cryptorchidism, Optic atrophy, Cleft palate, Glossoptosis, Pulmonary hypop... ORPHA:2886
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Pallister-Hall Syndrome
Small scrotum, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the uterus, Hypospadias... ORPHA:672
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Generalized hyperkeratosis ORPHA:349
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Esophageal atresia, Pulmonary ... OMIM:265380
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Alopecia, Severe short stature, Aganglionic megacolon, Eczema, ... ORPHA:2273
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure OMIM:614886
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Hereditary Elliptocytosis
Splenomegaly, Cholelithiasis, Jaundice, Prolonged neonatal jaundice ORPHA:288
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Visceral angiomatosis, Lymphoma, Hamartomatous polyposis, Neoplas... ORPHA:109
Warburg-Cinotti Syndrome
Retinal dystrophy, Pneumothorax, Joint swelling, High palate, Follicular hyperkeratosis, Choleste... OMIM:618175
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Bilateral cryptorchidism, Hydrometrocolpos, Osteoma, Rib exostoses, Scapular exos... OMIM:150230
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... ORPHA:512
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation OMIM:118650
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Alopecia, Eczema, Testicular neoplasm, Spina bifida, Postnatal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Alopecia, Eczema, Testicular neoplasm, Spina bifida, Postnatal ... ORPHA:363958
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Retinal detachment, Recurrent pneumonia, Follicular hyperkeratosis OMIM:225400
Hereditary Spherocytosis
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis ORPHA:822
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Disproportionate short statu... OMIM:210710
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Polyhydramnios, Cleft soft palate, Follicular hyperkeratosis OMIM:614557
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Visceral angiomatosis, Cavernous hemangioma, Cholecystitis, Cirrhosis, Chole... ORPHA:774
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis OMIM:240300
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Retinal detachment, Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cryptorchid... OMIM:601776
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Hyperkeratosis, Low anterior hairline, High, narrow palate ORPHA:75857
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Cryptorchidism OMIM:300534
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Lymphedema ORPHA:79280
Kyphoscoliotic Ehlers-Danlos Syndrome
Short stature, Synophrys, High palate, Follicular hyperkeratosis, Umbilical hernia ORPHA:536545
Leprosy
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Hyperkeratosis, Abnormality of the ... ORPHA:548
Kanzaki Disease
Hyperkeratosis, Lymphedema OMIM:609242
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples... OMIM:618268
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Absent eyebrow, Absent eyelashes, Cryptorchid... OMIM:219000
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus OMIM:619480
Porphyria, Congenital Erythropoietic
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis OMIM:263700
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... ORPHA:77293
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... ORPHA:73223
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly OMIM:301066
Bohring-Opitz Syndrome
Cholelithiasis, Nephroblastoma, Medulloblastoma, Annular pancreas ORPHA:97297
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis ORPHA:464738
Trisomy 8P
Cryptorchidism, Neuroblastoma, Annular pancreas, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Neoplasm, Hypoplastic nipples ORPHA:480880
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia... ORPHA:2255
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis ORPHA:2072
Cerebrotendinous Xanthomatosis
Cholelithiasis, Prolonged neonatal jaundice ORPHA:909
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus, Cholelithiasis ORPHA:567
Digeorge Syndrome
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... OMIM:188400
Williams Syndrome
Cryptorchidism, Cholelithiasis, Polycystic ovaries ORPHA:904

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 Sav1

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 Sav1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Kidney-specific knockout of Sav1 in the mouse promotes hyperproliferation of renal tubular epithelium through suppression of the Hippo pathway. The Journal of pathology (March 2016) Sav1tm1a(EUCOMM)Hmgu 26913567

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sav1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sav1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sav1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sav1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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