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Gene: Sdr9c7 MGI:1917311

Gene Summary

Name:

4short chain dehydrogenase/reductase family 9C, member 7

Synonyms:

Rdh20, 1810054F20Rik, Sdro, Rdhs, SDR-O

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

No results meet the p-value threshold

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Viewing: all phenotypes

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Viewing: all phenotypes

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 Sdr9c7 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 Sdr9c7 (3 diseases)
Human diseases predicted to be associated with Sdr9c7 (527 diseases)

The table below shows human diseases associated to Sdr9c7 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617574
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin	ORPHA:313
Congenital Ichthyosiform Erythroderma	Pruritus, Failure to thrive, Palmoplantar keratoderma, Erythroderma	ORPHA:79394

The table below shows human diseases predicted to be associated to Sdr9c7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat...	ORPHA:3406
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin	ORPHA:454
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop...	ORPHA:530838
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis, Facial erythema	OMIM:212360
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Erythrokeratodermia Variabilis	Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Dry skin	ORPHA:317
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis	OMIM:146750
Classic Mycosis Fungoides	Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin	ORPHA:2584
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma	ORPHA:312
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Dry skin	OMIM:617920
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin	ORPHA:461
Huriez Syndrome	Palmoplantar keratoderma, Lack of skin elasticity, Dry skin	ORPHA:384
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin	OMIM:617571
Dermatitis, Atopic	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Dry skin	OMIM:603165
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos...	OMIM:612281
Ichthyosis Vulgaris	Eczematoid dermatitis, Dry skin	OMIM:146700
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis	ORPHA:735
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Dry skin	ORPHA:1954
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery...	ORPHA:64745
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis	OMIM:101850
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Dermatoleukodystrophy	Hyperkeratosis	ORPHA:1659
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli...	OMIM:616295
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Failure to thrive	OMIM:612379
Moynahan Syndrome	Hyperkeratosis, Cachexia	ORPHA:2574
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin	ORPHA:313
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin	ORPHA:2271
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Pruritus, Palmoplantar keratoderma, Eczema, Dry skin	OMIM:618535
Sjögren-Larsson Syndrome	Hyperkeratosis, Erythema, Dry skin	ORPHA:816
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Pulmonary Blastoma	Weight loss	ORPHA:64741
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin	OMIM:308800
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis	OMIM:617526
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Ascites, Palmoplantar keratoderma	ORPHA:2198
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Dry skin	OMIM:224750
Tuberculosis	Weight loss	ORPHA:3389
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Generalized hyperkeratosis, Scaling skin, Cutis laxa	ORPHA:2269
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Erythema, Dry skin, Scaling skin	OMIM:614457
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Dry skin, Increased body weight	OMIM:614450
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Sézary Syndrome	Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Dry skin	ORPHA:3162
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Failure to thrive	OMIM:610768
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Aicardi-Goutieres Syndrome 5	Scaling skin, Dry skin, Chilblains	OMIM:612952
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Dermoodontodysplasia	Dry skin	OMIM:125640
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Eczema, Dry skin	ORPHA:2890
Leopard Syndrome 3	Hyperkeratosis, Dry skin, Epidermal hyperkeratosis	OMIM:613707
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Reticular Dysgenesis	Skin rash, Skin ulcer, Dehydration, Weight loss, Failure to thrive	ORPHA:33355
Idiopathic Achalasia	Weight loss	ORPHA:930
Phenylketonuria	Dry skin, Eczema	OMIM:261600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis...	OMIM:618282
Prolidase Deficiency	Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, Palmoplantar ke...	ORPHA:742
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Hyperkeratosis, Parakeratosis, Dry skin, Xerostomia	OMIM:618527
Acute Myelomonocytic Leukemia	Pallor, Weight loss	ORPHA:517
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
Bullous Pemphigoid	Erythema, Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Hyperkeratosis, Failure to thrive, Dry skin	OMIM:614576
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Small for gestational age	OMIM:616943
Ddost-Cdg	Failure to thrive, Dry skin	ORPHA:300536
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin, Obesity	ORPHA:1035
Riddle Syndrome	Dry skin	OMIM:611943
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin, Obesity	ORPHA:3085
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis	OMIM:620148
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Weight loss	ORPHA:86893
Hypohidrotic Ectodermal Dysplasia	Eczema, Xerostomia, Dry skin, Hyperkeratosis, Failure to thrive	ORPHA:238468
Omenn Syndrome	Edema, Pruritus, Dry skin, Erythroderma, Failure to thrive	ORPHA:39041
Complex Regional Pain Syndrome	Dry skin, Edema of the upper limbs, Erythema, Pedal edema	ORPHA:83452
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Pruritus, Parakeratosis, Dry skin, Orthokeratosis	OMIM:607626
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin	ORPHA:166113
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis	OMIM:604117
Adiposis Dolorosa	Recurrent skin infections, Dry skin, Xerostomia, Obesity	ORPHA:36397
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Dry skin, Eczema, Obesity	OMIM:620191
Atelis Syndrome 1	Dry skin, Eczema	OMIM:620184
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Skin vesicle	ORPHA:254478
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Palmoplantar keratoderma, Scaling skin, Dry skin	OMIM:618373
Acrodermatitis Enteropathica	Pustule, Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive	ORPHA:37
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin	OMIM:607936
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Isaacs Syndrome	Weight loss	ORPHA:84142
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Dry skin	OMIM:600906
Follicular Lymphoma	Pleural effusion, Weight loss, Lymphedema	ORPHA:545
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Dry skin, Small for gestational age	OMIM:262190
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Noonan Syndrome 5	Dry skin, Polyhydramnios, Large for gestational age	OMIM:611553
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Dry skin	OMIM:129490
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Dry skin, Small for gestational age, Erythroderma	OMIM:601675
Hatipoglu Immunodeficiency Syndrome	Failure to thrive, Eczema, Atopic dermatitis, Dry skin, Petechiae	OMIM:620331
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Orthoke...	OMIM:257980
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma	OMIM:617525
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Dry skin, Increased body weight	OMIM:300860
Microcephalic Primordial Dwarfism, Montreal Type	Dry skin	ORPHA:2617
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Mulibrey Nanism	Cachexia	ORPHA:2576
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scaling skin	OMIM:604777
Bachmann-Bupp Syndrome	Dry skin, Polyhydramnios, Large for gestational age	OMIM:619075
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Erythema	OMIM:613943
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Xeroderma Pigmentosum Variant	Dry skin	ORPHA:90342
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat...	ORPHA:69087
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Palmoplantar keratoderma, Lack of skin elasticity, Cachexia, Weight loss	ORPHA:1979
Dermoodontodysplasia	Dry skin	ORPHA:1660
Central Diabetes Insipidus	Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin	OMIM:617364
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Netherton Syndrome	Skin rash, Eczema, Dehydration, Erythroderma, Dry skin	ORPHA:634
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp...	ORPHA:79395
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin, Large for gestational age	ORPHA:226313
Squalene Synthase Deficiency	Dry skin, Failure to thrive in infancy	OMIM:618156
Ameloonychohypohidrotic Syndrome	Dry skin, Seborrheic dermatitis	OMIM:104570
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
19Q13.11 Microdeletion Syndrome	Failure to thrive, Dry skin, Cachexia	ORPHA:217346
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Dry skin, Perianal erythema, Perioral erythema	OMIM:201100
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Familial Melanoma	Dry skin	ORPHA:618
Aicardi-Goutieres Syndrome 9	Failure to thrive, Chilblains, Edema, Pericardial effusion, Weight loss, Ascites, Dry skin	OMIM:619487
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis...	ORPHA:1340
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Edema, Dehydration	ORPHA:103910
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Leopard Syndrome 2	Dry skin	OMIM:611554
Juvenile Dermatomyositis	Skin rash, Palpebral edema, Pruritus, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:93672
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Weight loss	OMIM:143880
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema, Weight loss	ORPHA:168811
Xfe Progeroid Syndrome	Cachexia, Failure to thrive, Ascites, Dry skin	OMIM:610965
Radio-Tartaglia Syndrome	Dry skin, Obesity, Striae distensae	OMIM:619312
Pseudomyxoma Peritonei	Ascites, Weight loss	ORPHA:26790
Alg11-Cdg	Failure to thrive, Dry skin	ORPHA:280071
Rhizomelic Chondrodysplasia Punctata	Dry skin	ORPHA:177
Pleural Mesothelioma	Pleural effusion, Weight loss	ORPHA:50251
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash, Cachexia	ORPHA:220295
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections	ORPHA:94059
Irida Syndrome	Hyperkeratosis, Pallor	ORPHA:209981
Thymic Carcinoma	Palpebral edema, Edema, Weight loss	ORPHA:99868
Distal Duplication 6P	Dry skin	ORPHA:1745
Huntington Disease-Like 2	Weight loss	OMIM:606438
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae, Lymphedema	OMIM:609242
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Noonan Syndrome 13	Dry skin, Lymphedema	OMIM:619087
Eosinophilic Fasciitis	Muscular edema, Edema, Weight loss	ORPHA:3165
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis	ORPHA:324964
Classic Hodgkin Lymphoma	Pruritus, Skin rash, Weight loss	ORPHA:391
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Decreased body weight, Dry skin, Oligohydramnios	OMIM:619229
Jung Syndrome	Dry skin	ORPHA:2321
Polyarteritis Nodosa	Erythema, Skin ulcer, Weight loss	ORPHA:767
Chromosome 19Q13.11 Deletion Syndrome, Distal	Failure to thrive, Dry skin	OMIM:613026
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Dry skin	OMIM:601701
Focal Myositis	Weight loss	ORPHA:48918
Agel Amyloidosis	Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin	ORPHA:85448
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Tangier Disease	Dry skin	OMIM:205400
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Nodular Non-Suppurative Panniculitis	Erythema, Edema, Weight loss	ORPHA:33577
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Dry skin	OMIM:268020
Septo-Optic Dysplasia Spectrum	Dry skin, Obesity	ORPHA:3157
Yao Syndrome	Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss	OMIM:617321
Majeed Syndrome	Inflammatory abnormality of the skin, Acne, Cachexia, Edema, Pustule, Weight loss, Failure to thrive	ORPHA:77297
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Dry skin	ORPHA:99832
Koolen-De Vries Syndrome	Failure to thrive, Dry skin, Small for gestational age, Eczema	OMIM:610443
Leishmaniasis	Pallor, Skin ulcer, Weight loss	ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Pallor, Lymphedema	ORPHA:3226
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Weight loss	ORPHA:65682
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Weight loss, Failure to thrive	ORPHA:47
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss	ORPHA:171876
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Scaling skin, Dry skin, Facial erythema	ORPHA:1010
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Hydroxykynureninuria	Dry skin	ORPHA:79155
Late-Onset Isolated Acth Deficiency	Failure to thrive, Dry skin, Weight loss	ORPHA:199299
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Kaposi Sarcoma	Weight loss, Skin rash, Lymphedema	ORPHA:33276
Perry Syndrome	Weight loss	ORPHA:178509
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Xeroderma Pigmentosum	Hyperkeratosis, Erythema, Dry skin, Failure to thrive	ORPHA:910
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Redundant neck skin, Weight loss	ORPHA:1842
Tooth Agenesis, Selective, 4	Dry skin, Palmar hyperkeratosis	OMIM:150400
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss	ORPHA:86884
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Weight loss	ORPHA:411703
Eosinophilic Gastroenteritis	Ascites, Atopic dermatitis, Edema, Weight loss	ORPHA:2070
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Refsum Disease	Dry skin	ORPHA:773
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Failure to thrive, Dry skin	ORPHA:90674
Dermatomyositis	Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:221
Pfapa Syndrome	Weight loss	ORPHA:42642
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Noonan Syndrome 14	Dry skin, Polyhydramnios	OMIM:619745
21Q22.11Q22.12 Microdeletion Syndrome	Dry skin, Failure to thrive in infancy	ORPHA:261323
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin	OMIM:618797
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Dry skin, Polyhydramnios	ORPHA:1812
Holocarboxylase Synthetase Deficiency	Weight loss, Eczema, Perioral eczema	ORPHA:79242
Rapp-Hodgkin Syndrome	Palmoplantar keratoderma, Dry skin	OMIM:129400
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Desmoplastic Small Round Cell Tumor	Ascites, Cachexia, Weight loss	ORPHA:83469
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma	ORPHA:139402
Recon Progeroid Syndrome	Dry skin, Scaling skin	OMIM:620370
Wilson Disease	Pruritus, Increased body weight, Weight loss, Joint swelling, Failure to thrive	ORPHA:905
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin, Small for gestational age, Eczema	OMIM:617799
Non-Functioning Paraganglioma	Pallor, Weight loss	ORPHA:94080
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Truncal obesity, Dry skin	ORPHA:2637
Fucosidosis	Failure to thrive, Dry skin, Petechiae	OMIM:230000
Takayasu Arteritis	Skin ulcer, Weight loss	ORPHA:3287
Immunodeficiency 55	Dry skin, Recurrent skin infections, Eczema	OMIM:617827
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Dry skin, Xerostomia, Periorbital wrinkles	OMIM:614941
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal erythema, Hyperkeratosis, H...	OMIM:308205
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin	OMIM:619244
Flynn-Aird Syndrome	Cachexia, Skin ulcer	ORPHA:2047
Liposarcoma	Weight loss	ORPHA:69078
Koolen-De Vries Syndrome	Dry skin	ORPHA:96169
Acute Adrenal Insufficiency	Failure to thrive, Dry skin, Weight loss	ORPHA:95409
Wild Type Attr Amyloidosis	Pleural effusion, Weight loss, Pedal edema, Pulmonary edema	ORPHA:330001
Mcdonough Syndrome	Cachexia	ORPHA:2471
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Cap Polyposis	Weight loss	ORPHA:160148
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Polyhydramnios	OMIM:618186
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Small for gestational age, Scaling skin	OMIM:618419
Eec Syndrome	Hyperkeratosis, Dry skin, Xerostomia	ORPHA:1896
Sheehan Syndrome	Dry skin, Pallor, Obesity	ORPHA:91355
Systemic Capillary Leak Syndrome	Pleural effusion, Weight loss, Pedal edema, Pulmonary edema	ORPHA:188
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Skin ulcer, Chylothorax, Scaling skin, Pleural effusion, Dry skin, Erysipelas	ORPHA:2526
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Idiopathic Chronic Eosinophilic Pneumonia	Pleural effusion, Atopic dermatitis, Weight loss	ORPHA:2902
Rheumatoid Arthritis	Joint swelling, Weight loss	OMIM:180300
Primary Myelofibrosis	Cachexia, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
9P13 Microdeletion Syndrome	Dry skin	ORPHA:324313
Rhabdoid Tumor	Weight loss	ORPHA:69077
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Dry skin	OMIM:614008
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Dry skin	OMIM:614940
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Hallermann-Streiff Syndrome	Dry skin, Small for gestational age	OMIM:234100
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Polyhydramnios	ORPHA:2774
Trichothiodystrophy	Congenital exfoliative erythroderma, Dry skin, Eczema	ORPHA:33364
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Aggressive Systemic Mastocytosis	Pruritus, Ascites, Maculopapular exanthema, Weight loss	ORPHA:98850
Helix Syndrome	Dry skin, Xerostomia	OMIM:617671
Reactive Arthritis	Pustule, Joint swelling, Hyperkeratosis, Weight loss	ORPHA:29207
Christianson Syndrome	Cachexia	ORPHA:85278
Wolman Disease	Ascites, Cachexia	ORPHA:75233
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Dry skin, Palmoplantar hyperkeratosis, Large for gestational age	OMIM:280000
Immunodeficiency 27A	Weight loss	OMIM:209950
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Adult Syndrome	Dry skin, Eczema	OMIM:103285
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Pneumocystosis	Pleural effusion, Weight loss, Chronic oral candidiasis	ORPHA:723
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Ménétrier Disease	Peripheral edema, Weight loss	ORPHA:2494
Beta-Ketothiolase Deficiency	Weight loss, Pallor, Edema, Dehydration	ORPHA:134
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Dry skin	OMIM:612132
Chronic Beryllium Disease	Weight loss	ORPHA:133
Secondary Short Bowel Syndrome	Failure to thrive, Dehydration, Weight loss	ORPHA:95427
Dyskeratosis Congenita, Autosomal Dominant 3	Dry skin	OMIM:613990
Cronkhite-Canada Syndrome	Cachexia, Lymphedema	ORPHA:2930
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Dry skin, Hyperkeratosis, Stillbirth, Failure to thrive, Oligohydramnios	OMIM:210710
Rat-Bite Fever	Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill...	ORPHA:31205
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Dry skin, Eczema	ORPHA:508542
Autosomal Dominant Hypocalcemia	Dry skin, Eczema	ORPHA:428
Atopic Keratoconjunctivitis	Dry skin	ORPHA:163934
Congenital Tufting Enteropathy	Failure to thrive, Dehydration, Weight loss	ORPHA:92050
Addison Disease	Failure to thrive, Dry skin, Weight loss	ORPHA:85138
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Dubowitz Syndrome	Dry skin, Eczema	ORPHA:235
Cranioectodermal Dysplasia 3	Dry skin, Cutis laxa	OMIM:614099
Renpenning Syndrome	Cachexia	ORPHA:3242
Cockayne Syndrome B	Severe failure to thrive, Failure to thrive, Dry skin, Small for gestational age	OMIM:133540
Nephroblastoma	Weight loss	ORPHA:654
Toxic Epidermal Necrolysis	Weight loss, Erythema, Skin ulcer, Acantholysis	ORPHA:537
Hajdu-Cheney Syndrome	Failure to thrive, Dry skin, Skin ulcer	ORPHA:955
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Dry skin, Oligohydramnios	ORPHA:163956
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Weight loss	ORPHA:514
Acute Promyelocytic Leukemia	Ecchymosis, Weight loss, Petechiae, Purpura	ORPHA:520
Syndromic Diarrhea	Dry skin, Small for gestational age	ORPHA:84064
Poems Syndrome	Edema, Pericardial effusion, Abnormality of skin physiology, Weight loss, Pleural effusion, Ascites	ORPHA:2905
Imerslund-Gräsbeck Syndrome	Failure to thrive, Pallor, Weight loss	ORPHA:35858
Osteootohepatoenteric Syndrome	Pruritus, Failure to thrive, Dehydration, Weight loss	OMIM:619377
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Periorbital wrinkles, Dry skin, Eczema	OMIM:305100
X-Linked Creatine Transporter Deficiency	Redundant skin, Cachexia	ORPHA:52503
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Stevens-Johnson Syndrome	Weight loss, Erythema, Acantholysis	ORPHA:36426
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Lymphoid Interstitial Pneumonia	Failure to thrive, Skin rash, Eczema, Weight loss	ORPHA:79128
Short Syndrome	Excessive wrinkled skin, Weight loss	ORPHA:3163
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Facial wrinkling, Dry skin, Pleural effusion, Failure to thrive	OMIM:606721
Rabson-Mendenhall Syndrome	Dry skin	ORPHA:769
Tetrasomy 12P	Cachexia	ORPHA:884
Refractory Celiac Disease	Inflammatory abnormality of the skin, Weight loss	ORPHA:398063
Cockayne Syndrome A	Failure to thrive, Dry skin	OMIM:216400
Congenital Ichthyosiform Erythroderma	Pruritus, Failure to thrive, Palmoplantar keratoderma, Erythroderma	ORPHA:79394
Budd-Chiari Syndrome	Ascites, Weight loss	ORPHA:131
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Blau Syndrome	Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry skin	ORPHA:90340
Peripheral Primitive Neuroectodermal Tumor	Pruritus, Ascites, Weight loss	ORPHA:370348
Perry Syndrome	Weight loss	OMIM:168605
Adrenocortical Carcinoma	Increased body weight, Striae distensae, Weight loss	ORPHA:1501
Oromandibular Dystonia	Weight loss	ORPHA:93958
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Gm1 Gangliosidosis	Failure to thrive, Hydrops fetalis, Weight loss	ORPHA:354
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Fatal Familial Insomnia	Weight loss	OMIM:600072
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Weight loss	ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss, Pallor, Edema, Dehydration	ORPHA:20
Eosinophilic Granulomatosis With Polyangiitis	Weight loss, Skin rash, Purpura	ORPHA:183
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Fetal ascites, Erythema, Atopic dermatitis, Facial erythema, Cutis laxa, Joint...	OMIM:619503
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Dry skin, Redundant skin	ORPHA:920
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Noonan Syndrome 1	Dry skin, Failure to thrive in infancy, Chylothorax, Lymphedema	OMIM:163950
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Loeffler Endocarditis	Weight loss	ORPHA:75566
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pruritus, Pallor, Weight loss	ORPHA:98849
Primary Sjögren Syndrome	Erythema nodosum, Xerostomia, Skin ulcer, Dry skin, Purpura	ORPHA:289390
Celiac Disease, Susceptibility To, 1	Failure to thrive, Eczema, Weight loss	OMIM:212750
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Amoebiasis Due To Entamoeba Histolytica	Pleural effusion, Pleural empyema, Weight loss	ORPHA:67
Bartsocas-Papas Syndrome 1	Dry skin	OMIM:263650
Limb-Mammary Syndrome	Psoriasiform dermatitis, Dry skin	ORPHA:69085
Familial Thrombocytosis	Pruritus, Weight loss	ORPHA:71493
Hermansky-Pudlak Syndrome	Hyperkeratosis, Weight loss	ORPHA:79430
Scalp-Ear-Nipple Syndrome	Dry skin, Palpebral edema	OMIM:181270
Aicardi-Goutières Syndrome	Dry skin, Chilblains	ORPHA:51
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint swelling, Weight loss	ORPHA:465508
Aredyld Syndrome	Cachexia	ORPHA:1133
Klatskin Tumor	Weight loss	ORPHA:99978
Polycythemia Vera	Pruritus, Weight loss	ORPHA:729
Plague	Chapped lip, Skin rash, Edema, Erythema nodosum, Skin ulcer, Dry skin	ORPHA:707
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss, Petechiae, Purpura	ORPHA:85450
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Menkes Disease	Dry skin	ORPHA:565
Pyomyositis	Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Xerostomia, Cachexia	OMIM:175500
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Premature skin wrinkling, Dry skin, Small for gestational age	OMIM:264090
Orofaciodigital Syndrome Type 1	Dry skin	ORPHA:2750
Giant Cell Arteritis	Skin ulcer, Weight loss	ORPHA:397
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Q Fever	Maculopapular exanthema, Pericardial effusion, Weight loss, Pleural effusion, Purpura	ORPHA:781
Felty Syndrome	Weight loss	ORPHA:47612
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Polymyositis	Weight loss	ORPHA:732
Gallbladder Neuroendocrine Tumor	Ascites, Weight loss	ORPHA:100086
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Simple Cryoglobulinemia	Weight loss, Acral ulceration, Purpura	ORPHA:91139
Tangier Disease	Dry skin	ORPHA:31150
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Weight loss	ORPHA:29072
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Weight loss	ORPHA:100085
Lysosomal Acid Lipase Deficiency	Cachexia, Pruritus, Dehydration, Weight loss, Ascites, Failure to thrive	ORPHA:275761
Al Amyloidosis	Peripheral edema, Xerostomia, Weight loss	ORPHA:85443
Malignant Atrophic Papulosis	Pleural effusion, Weight loss	ORPHA:679
Immunodeficiency 31C	Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo...	OMIM:614162
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,...	ORPHA:37042
Chand Syndrome	Dry skin	ORPHA:1401
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Caroli Disease	Pruritus, Ascites, Weight loss	ORPHA:53035
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Dry skin, Redundant skin	OMIM:200110
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Granulomatosis With Polyangiitis	Skin ulcer, Weight loss	OMIM:608710
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Kikuchi-Fujimoto Disease	Skin rash, Palpebral edema, Pruritus, Pustule, Erythema, Weight loss, Pleural effusion, Malar rash	ORPHA:50918
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Pedal edema, Weight loss	ORPHA:49041
Alzahrani-Kuwahara Syndrome	Dry skin, Eczema	OMIM:619268
Aicardi-Goutieres Syndrome 7	Skin rash, Chilblains, Edema, Pericardial effusion, Atopic dermatitis, Weight loss, Oligohydramnios	OMIM:615846
Whipple Disease	Cachexia, Pedal edema	ORPHA:3452
Erdheim-Chester Disease	Joint swelling, Pleural effusion, Skin rash, Weight loss	ORPHA:35687
Insulin-Resistance Syndrome Type B	Skin rash, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight	ORPHA:2298
Riddle Syndrome	Erythema, Scaling skin, Weight loss	ORPHA:420741
Rett Syndrome	Cachexia	OMIM:312750
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
Glucagonoma	Skin rash, Necrolytic migratory erythema, Pruritus, Weight loss, Ascites	ORPHA:97280
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Weight loss	OMIM:613673
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Thymoma	Weight loss	ORPHA:99867
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Weight loss	ORPHA:309031
Castleman Disease	Anasarca, Weight loss	ORPHA:160
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Alveolar Echinococcosis	Weight loss, Pedal edema, Cutaneous abscess	ORPHA:284
Vipoma	Erythema, Ascites, Dehydration, Weight loss	ORPHA:97282
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Cystic Echinococcosis	Weight loss	ORPHA:400
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Weight loss	ORPHA:99885
Trichorhinophalangeal Syndrome, Type Ii	Redundant skin in infancy, Dry skin, Cutis laxa	OMIM:150230
Granulomatosis With Polyangiitis	Skin rash, Periorbital edema, Skin ulcer, Weight loss, Purpura	ORPHA:900
Exercise-Induced Malignant Hyperthermia	Dry skin	ORPHA:466650
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Pancreatoblastoma	Weight loss	ORPHA:677
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Skin rash, Weight loss	OMIM:301074
Lynch Syndrome	Weight loss	ORPHA:144
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Multiple Myeloma	Pleural effusion, Weight loss	ORPHA:29073
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Ileal Neuroendocrine Tumor	Edema, Weight loss	ORPHA:100078
Tropical Pancreatitis	Weight loss	ORPHA:103918
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Weight loss	ORPHA:85408
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Lymphedema	ORPHA:109
Primary Sclerosing Cholangitis	Pruritus, Pleural effusion, Ascites, Weight loss	ORPHA:171
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Chronic Graft Versus Host Disease	Erythema, Xerostomia, Skin ulcer, Weight loss, Skin vesicle, Pleural effusion, Ascites	ORPHA:99921
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Increased body weight, Recurrent cutaneous fungal infections, Pedal edema, Skin ulcer, Weig...	ORPHA:99889
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor, Weight loss	ORPHA:91347
Mucolipidosis Type Ii	Weight loss, Oligohydramnios	ORPHA:576
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Polyhydramnios, Weight loss	ORPHA:2020
Microsporidiosis	Cachexia, Dehydration, Weight loss	ORPHA:2552
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Brucellosis	Small for gestational age, Weight loss, Pleural effusion, Failure to thrive, Purpura	ORPHA:1304
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Palpable purpura, Weight loss	ORPHA:48435
Ppoma	Ascites, Weight loss	ORPHA:97278
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Failure to thrive, Dry skin	ORPHA:99646
Trisomy 18	Cachexia, Oligohydramnios	ORPHA:3380
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Malt Lymphoma	Weight loss	ORPHA:52417
Zollinger-Ellison Syndrome	Erythema, Weight loss	ORPHA:913
Somatostatinoma	Ascites, Weight loss	ORPHA:97283
Schwartz-Jampel Syndrome	Cachexia, Polyhydramnios, Decreased body weight	ORPHA:800
Seckel Syndrome	Cachexia	ORPHA:808
Grfoma	Ascites, Weight loss	ORPHA:97261
Hereditary Sensory And Autonomic Neuropathy Type 4	Dry skin	ORPHA:642
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Xerostomia, Palpebral edema, Weight loss	ORPHA:79078
Pulmonary Alveolar Microlithiasis	Peripheral edema, Weight loss	ORPHA:60025
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Behçet Disease	Pleural effusion, Acne, Weight loss	ORPHA:117
Cystinosis, Nephropathic	Failure to thrive in infancy, Dehydration, Weight loss	OMIM:219800
Nocardiosis	Pleural effusion, Weight loss, Cutaneous abscess	ORPHA:31204
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Immunodeficiency 82 With Systemic Inflammation	Recurrent skin infections, Skin rash, Weight loss, Joint swelling, Pustular rash	OMIM:619381
Fanconi Anemia	Weight loss, Oligohydramnios	ORPHA:84
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Weight loss	OMIM:181000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Acne, Dehydration, Weight loss	ORPHA:90794
Parathyroid Carcinoma	Weight loss	ORPHA:143
Cockayne Syndrome	Premature skin wrinkling, Malar rash, Cachexia	ORPHA:191
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Premature skin wrinkling, Lack of skin elasticity, Weight loss	ORPHA:740
Marfan Syndrome	Cachexia, Slender build, Striae distensae	ORPHA:558
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Pedal edema, Weight loss	ORPHA:449395
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ecchymosis, Cachexia, Skin ulcer	ORPHA:2072
Sarcoidosis	Maculopapular exanthema, Erythema nodosum, Weight loss, Joint swelling, Chylothorax, Pleural effu...	ORPHA:797
Multiple Endocrine Neoplasia Type 1	Dehydration, Weight loss	ORPHA:652
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss, Skin rash, Cystoid macular edema, Macular edema	ORPHA:91500
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Nijmegen Breakage Syndrome	Cachexia	ORPHA:647
Proteus Syndrome	Generalized hyperkeratosis, Cachexia, Lymphedema	ORPHA:744
Goodpasture Syndrome	Pallor, Weight loss	OMIM:233450
Camurati-Engelmann Disease	Slender build, Cachexia	ORPHA:1328
African Trypanosomiasis	Pruritus, Weight loss	ORPHA:3385
Tropical Endomyocardial Fibrosis	Cachexia, Peripheral edema, Ascites, Pedal edema	ORPHA:75565
Choreoacanthocytosis	Weight loss	ORPHA:2388
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
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 Sdr9c7

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 Sdr9c7.

No publications found that use IMPC mice or data for Sdr9c7.

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
Sdr9c7^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sdr9c7^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Sdr9c7^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Sdr9c7^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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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