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Gene: Col7a1 MGI:88462

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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:
collagen, type VII, alpha 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Col7a1 mutations

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

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

The table below shows human diseases associated to Col7a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Erythematous papule, A... ORPHA:79410
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Abnormality of the elbow, Hyperkeratosis, Atrophic scars, Dermal atrophy, Na... ORPHA:89843
Transient Bullous Dermolysis Of The Newborn
Atrophic scars, Milia OMIM:131705
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Atrophic scars, Nail dystrophy OMIM:131850
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Erosion of oral mucosa, Oral mucosal blisters, Atypical scarring of skin, Atrophic scars, Nail dy... ORPHA:231568
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Atrophic scars, Milia OMIM:131750
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Skin erosion, Growth delay, Atrophic scars, Palmoplantar ke... ORPHA:79411
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Anal fissure, Carious teeth, Skin erosion, Narrow mouth, ... ORPHA:89842
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Erythema, Abnormality of the elbow, Palmoplantar hyperkeratosis, Erythemato... ORPHA:158673
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Localized skin lesion, Esophageal stricture, Growth delay, ... ORPHA:79409
Epidermolysis Bullosa Pruriginosa
Milia OMIM:604129
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mo... ORPHA:79408
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters OMIM:132000
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Narrow mouth, Esophageal str... OMIM:226600
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Dystrophic fingernails, Nail dystrophy, Dystrophic toenail ORPHA:158676
Nail Disorder, Nonsyndromic Congenital, 8
Dystrophic toenail OMIM:607523

The table below shows human diseases predicted to be associated to Col7a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Erythematous papule, A... ORPHA:79410
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Abnormal hair morphology, Plantar pits, Anal mucosa... ORPHA:218
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Wells Syndrome
Skin vesicle, Eosinophilia ORPHA:901
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, B lymphocytopen... OMIM:150550
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormality of the hand, Palmar pit... ORPHA:79145
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Oral mucosal blisters, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migra... ORPHA:158681
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplantar erythema, Ery... ORPHA:64745
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Dermatitis Herpetiformis
Macule, Skin vesicle, Erythema, Microcytic anemia ORPHA:1656
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, Papule ORPHA:48104
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Skin ulcer ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Iga Pemphigus
Eosinophilia, Annular cutaneous lesion, Skin vesicle, Skin erosion, Skin plaque, Cutaneous abscess ORPHA:555905
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Acantholysis, Erythema, Oral ulcer, Erythematous plaque, Serpigi... ORPHA:79481
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Catel-Manzke Syndrome
Short stature, Camptodactyly of finger, Highly arched eyebrow, Metatarsus valgus, Radial deviatio... ORPHA:1388
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Subcutaneous nodule, B lymphocytopenia, Annular cutaneous lesion, Decrea... OMIM:618048
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology ORPHA:254478
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Absent circulating B cells OMIM:620282
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Immunodeficiency 43
Subcutaneous nodule, B lymphocytopenia, Reduced natural killer cell count, Lung abscess OMIM:241600
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Dyskeratosis Congenita
White hair, Premature graying of hair, Periodontitis, Sparse hair, Skin vesicle, Macule, Alopecia... ORPHA:1775
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Immunodeficiency, Common Variable, 1
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Osteopenia, Craniosynostosis, Abnormality of the dentition, Abnormal h... ORPHA:2314
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Scaling skin, Neutropenia, Skin vesicle, Purpura ORPHA:293173
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Skin nodule, Leukocytosis, Pyoderma gangrenosum, Chronic ly... ORPHA:3243
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... OMIM:615513
Hennekam-Beemer Syndrome
Macule, Short stature, Camptodactyly of finger, Subcutaneous nodule, Erythema, Thick lower lip ve... ORPHA:2135
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Erythematous papule, B lymphocytopenia, Abnorm... OMIM:602450
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Severe periodontitis, Short stature, Protruding tongue, Long upper lip, Small fo... ORPHA:99843
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... OMIM:301078
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Weight loss ORPHA:141152
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... OMIM:227270
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, T... ORPHA:2928
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia ORPHA:397596
Porphyria Variegata
Localized skin lesion, Skin vesicle, Skin erosion, Milia, Anemia ORPHA:79473
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of car... OMIM:620269
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Leukopenia, B lymphocytope... ORPHA:508542
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, T... ORPHA:3201
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Abnormality of the elbow, Hyperkeratosis, Atrophic scars, Dermal atrophy, Na... ORPHA:89843
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu... OMIM:258860
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Acantholysis, Aplasia cutis congenita, Wid... OMIM:609638
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... ORPHA:1972
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia ORPHA:293978
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... OMIM:614700
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Subcutaneous nodule, Thick lower lip... ORPHA:530
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Short stature, Abnormality of the hand, Low posteri... ORPHA:1387
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Short stat... OMIM:252100
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-posit... ORPHA:169154
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:620005
Cleidocranial Dysplasia
High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ... ORPHA:1452
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Narrow mouth, Whistling appearance, Elbow flexion contracture, Ulna... OMIM:277720
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis OMIM:614876
Odontoonychodermal Dysplasia
Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth, Smooth tongu... OMIM:257980
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Pre... ORPHA:3098
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Short stature, Single transverse palmar crease, Pierre-Robin sequence, ... OMIM:613604
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Cachexia, Tapered finger, Malabsorption, Hypogeusia, Furrowed ton... ORPHA:2930
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... OMIM:617127
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Obesity,... OMIM:300602
Cohen Syndrome
High, narrow palate, Low anterior hairline, Short philtrum, Clinodactyly of the 5th finger, Finge... ORPHA:193
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Papule, Finger synda... ORPHA:2907
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... OMIM:614815
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... ORPHA:1427
Seckel Syndrome 2
Few cafe-au-lait spots, Small for gestational age, Short stature, Growth delay, Clinodactyly of t... OMIM:606744
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology ORPHA:166100
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Cutis laxa, T lymphocyt... OMIM:617237
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Short stature, Limited elbow movement, Highly arched ... OMIM:615065
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy ORPHA:496689
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormali... ORPHA:659
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Short stature... OMIM:613091
Epilepsy, Progressive Myoclonic, 9
Short thumb, Microglossia OMIM:616540
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossopt... ORPHA:93346
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Single transverse palmar crease, Glossoptosis, High palate, Rhizomelia, Short stature... OMIM:611209
Hartnup Disorder
Glossitis, Short stature OMIM:234500
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Mulibrey Nanism
Dental crowding, Single transverse palmar crease, Short stature, Enamel hypoplasia, Dental malocc... OMIM:253250
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, Tarsal synostosis, N... ORPHA:1307
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... ORPHA:2751
Orofaciodigital Syndrome Type 1
Brittle hair, Reduced bone mineral density, Lobulated tongue, Coarse hair, High palate, Sparse ha... ORPHA:2750
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners... OMIM:613443
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Tibial bowing, Femoral bowing, Smooth tongue, Sparse hair, Short... OMIM:601559
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone ... ORPHA:561
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulum, Cleft upper... OMIM:277170
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Tarp Syndrome
Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... OMIM:311900
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of... ORPHA:531151
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Postnatal growth retardation, Abnormal tongue morphology, Hypoplasia o... ORPHA:2457
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Pallister-Hall-Like Syndrome
Toe syndactyly, Median cleft lip, Short stature, Micromelia, Postaxial hand polydactyly, Hip disl... OMIM:241800
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... OMIM:141300
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde... ORPHA:94068
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cle... ORPHA:2167
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail ... OMIM:615726
Pelvis-Shoulder Dysplasia
Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mes... ORPHA:2839
Chikungunya
Macule, Periostitis, Erythema, Osteolysis, Gingival bleeding, Skin vesicle, Petechiae ORPHA:324625
Lelis Syndrome
Yellow nails, Carious teeth, Absent lower eyelashes, Palmoplantar hyperkeratosis, Furrowed tongue... ORPHA:140936
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... ORPHA:1507
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... OMIM:300963
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Failure to thrive, Short stature, Highly arched eyebrow, Hamar... ORPHA:2754
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Cafe-au-lait spot, Thrombocyto... OMIM:251260
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the dentition, Carious tee... ORPHA:158668
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... OMIM:616300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fin... OMIM:175500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Cousin Syndrome
Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinodactyly of the 5... OMIM:260660
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Thick eyebrow, Macrodontia, Short stature, Proximal placement of thumb, Coxa valga, D... OMIM:212066
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia OMIM:300755
Psoriasis 14, Pustular
Parakeratosis, Erythema, Furrowed tongue, Nail dystrophy, Geographic tongue OMIM:614204
Transient Bullous Dermolysis Of The Newborn
Atrophic scars, Milia OMIM:131705
Carey-Fineman-Ziter Syndrome
Short stature, Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Pierre-R... ORPHA:1358
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Smooth philtrum, Thin upper lip vermilion, Short stature, Diastema, Furrowed tongue, Short foot, ... OMIM:300534
Trisomy 8Q
Camptodactyly of finger, Non-midline cleft lip, Bone cyst, Orofacial cleft, Cleft palate, Deep pa... ORPHA:1752
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus OMIM:616155
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Atrophic scars, Nail dystrophy OMIM:131850
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
Hereditary Mucoepithelial Dysplasia
Alopecia, Gingival overgrowth, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Hyperkerato... ORPHA:1839
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Failure to thrive, Sparse eyelashes, Short stature, Sparse eyebrow, Bil... OMIM:618874
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han... OMIM:268310
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Sparse hair, Syndactyly, Alopecia, Short stature, Hamart... OMIM:311200
Alg12-Cdg
B lymphocytopenia, Redundant skin, Thrombocytopenia ORPHA:79324
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Erosion of oral mucosa, Oral mucosal blisters, Atypical scarring of skin, Atrophic scars, Nail dy... ORPHA:231568
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone... ORPHA:90652
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Chronic Graft Versus Host Disease
Alopecia, Esophageal stricture, Erythema, Xerostomia, Intermittent generalized erythematous papul... ORPHA:99921
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Short stature, Malabsorption, Erythema,... ORPHA:37
Down Syndrome
Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protruding tongue,... ORPHA:870
Facioscapulohumeral Muscular Dystrophy 1
Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy OMIM:158900
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Atrophic scars, Milia OMIM:131750
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, High, narrow palate, Abnormal ... ORPHA:436003
Bazex-Dupre-Christol Syndrome
Nevus, Furrowed tongue, Coarse hair, Pili torti, Sparse hair, Milia, Trichorrhexis nodosa OMIM:301845
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Ap... ORPHA:364577
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Glos... ORPHA:2221
Gracile Bone Dysplasia
Failure to thrive, Short stature, Flared metaphysis, Slender long bone, Decreased skull ossificat... OMIM:602361
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Glossoptosis, Failure to thrive, Cleft palate OMIM:618356
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Bone marrow hypocellularity, Neutr... ORPHA:101096
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pro... OMIM:200600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... OMIM:608670
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Charcot-Marie-Tooth Disease, Type 4C
Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy OMIM:601596
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Sparse scalp hair, Tented upper lip vermilion, Overlapping toe, Single transve... ORPHA:464738
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Long palm, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Abnormality of the philtrum, Abnorma... ORPHA:2759
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Alopecia, Craniosynostosis, Oral mucosal blisters, Ery... ORPHA:79396
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short stature, Cleft lip, Dental malocclusion, Gingival overgrowth, Cl... OMIM:616894
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Single transverse palmar crease, Tapered finger, Protruding tongue, Synophrys, Widow's peak, Broa... OMIM:617804
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells OMIM:307200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve... OMIM:612938
Cowden Syndrome
Macule, Short stature, Subcutaneous nodule, Bone cyst, Hypopigmented skin patches, Melanocytic ne... ORPHA:201
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Periauricular skin pits, Microglossia, Dental... ORPHA:137888
Mandibulofacial Dysostosis With Alopecia
Preauricular pit, Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth,... OMIM:616367
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Tapered finger, Protruding tongue, Wide mouth, Growth delay, High pal... OMIM:618580
Pontocerebellar Hypoplasia, Type 1B
Growth delay, Tongue atrophy, Hip dislocation, Tongue fasciculations OMIM:614678
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Skin erosion, Growth delay, Atrophic scars, Palmoplantar ke... ORPHA:79411
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
Kinsship Syndrome
Osteopenia, Single transverse palmar crease, Synophrys, Downturned corners of mouth, Short philtr... OMIM:619297
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Sandal gap, Broad hallux, Dental crowding, Synophrys, Obesity, Narrow p... OMIM:616078
Autosomal Dominant Robinow Syndrome
Micromelia, High, narrow palate, Abnormality of the gingiva, Naevus flammeus of the eyelid, Coxa ... ORPHA:3107
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti... ORPHA:2752
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Absent pubic hair, Furro... OMIM:148210
Tarp Syndrome
Finger syndactyly, Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postax... ORPHA:2886
Catel-Manzke Syndrome
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... OMIM:616145
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Postauricular pit, T lymphocytopenia, B lymp... OMIM:619381
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture... ORPHA:2108
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Median cleft lip, Intestinal malrotation, Hamartoma of tongue,... OMIM:269860
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Anal fissure, Carious teeth, Skin erosion, Narrow mouth, ... ORPHA:89842
X-Linked Agammaglobulinemia
Alopecia, Short stature, Malabsorption, Hypopigmented skin patches, Skin ulcer, Weight loss, Glos... ORPHA:47
Rabson-Mendenhall Syndrome
Dental crowding, Thick hair, Short stature, Abnormality of the dentition, Low anterior hairline, ... ORPHA:769
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anteriorly placed anus, Cutaneous finger syndactyly, Spa... OMIM:151050
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Sacral dimple, Short stature, Camptodactyly of finger, Micr... ORPHA:3206
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... ORPHA:54028
Intellectual Developmental Disorder, Autosomal Dominant 58
Few cafe-au-lait spots, Dental crowding, Single transverse palmar crease, Short stature, Protrudi... OMIM:618106
Marshall-Smith Syndrome
Irregular dentition, Brittle hair, Large sternal ossification centers, Synophrys, Distal widening... OMIM:602535
Raine Syndrome
Natal tooth, Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia,... OMIM:259775
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu... OMIM:616449
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Au-Kline Syndrome
Sacral dimple, Failure to thrive, Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumera... OMIM:616580
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, Short stature, H... ORPHA:261330
Distal Deletion 15Q
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Finger clinodactyly, Short philtru... ORPHA:1596
Frontorhiny
Camptodactyly of finger, Widow's peak, Dermoid cyst, Cleft palate, Finger clinodactyly, Preauricu... ORPHA:391474
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Short stature, Tapered finge... ORPHA:488642
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th finger, Bifid ton... ORPHA:2001
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Kleefstra Syndrome 1
Natal tooth, Single transverse palmar crease, Persistence of primary teeth, Protruding tongue, Sy... OMIM:610253
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Short stature, Short foot, Hand polydactyly, High palate, F... ORPHA:250989
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate ORPHA:313892
Hypoglossia-Hypodactylia
Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia OMIM:103300
Ring Chromosome 22 Syndrome
Protruding tongue, 2-3 toe syndactyly, Growth delay, Large hands, Thick vermilion border, Thick e... ORPHA:1446
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Erythema, Abnormality of the elbow, Palmoplantar hyperkeratosis, Erythemato... ORPHA:158673
Cowden Syndrome 5
Skin tags, Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyp... OMIM:615108
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Abnormal palate morphology, Short philtrum,... ORPHA:3241
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi... ORPHA:50945
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Tongue fasciculations, Intrinsic hand muscle atrophy, Tongue atrophy OMIM:620285
Robinow Syndrome
Dental crowding, Orofacial cleft, Syndactyly, Short stature, Persistence of primary teeth, Mesome... ORPHA:97360
Pallister-Hall Syndrome
Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... OMIM:146510
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... ORPHA:453504
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... ORPHA:352665
Congenital Disorder Of Glycosylation, Type Iie
Short stature, Protruding tongue, Adducted thumb, Low anterior hairline, Growth delay, Excessive ... OMIM:608779
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Coxa valga, Gingival overgrowth, Narrow mouth, Limb undergrowth, Failure to th... OMIM:230600
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Localized skin lesion, Esophageal stricture, Growth delay, ... ORPHA:79409
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Cowden Syndrome 6
Skin tags, Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyp... OMIM:615109
Chand Syndrome
Curly hair, Short fifth metatarsal, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Abno... ORPHA:1401
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Preauricular pit, Osteopenia, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned corners... ORPHA:453499
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Coxa valga, Tapered finger, Diastema, Protruding tongue, Thick lowe... OMIM:301040
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Redundant neck skin, Rocker bottom foot, Single transverse palmar cr... OMIM:214100
Hartnup Disease
Short stature, Malabsorption, Hypopigmented skin patches, Gingivitis, Glossitis ORPHA:2116
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... OMIM:619950
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Short stature, Small for gestational age, Tracheoesophageal fistula, Hi... OMIM:277380
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, Rhizomelia, Abnormal ... ORPHA:818
Cowden Syndrome 1
Skin tags, Colonic diverticula, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Hama... OMIM:158350
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Ramos-Arroyo Syndrome
Sparse scalp hair, Severe short stature, Aganglionic megacolon, Shoulder dimple, Carious teeth, X... ORPHA:1051
Carey-Fineman-Ziter Syndrome 1
Tapered finger, Pierre-Robin sequence, Cleft palate, Growth delay, Glossoptosis, Pectoralis hypop... OMIM:254940
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Low anterior hairline, Gingival overgrowth, Wide mouth, Horizontal eyebrow, Hi... OMIM:618797
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Absent eyelashes,... ORPHA:861
Distal Deletion 12Q
Single transverse palmar crease, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of... ORPHA:96149
Epidermolysis Bullosa Pruriginosa
Milia OMIM:604129
Fontaine Progeroid Syndrome
Redundant skin, High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Co... OMIM:612289
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mo... ORPHA:79408
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Short stature ORPHA:2031
Hereditary Folate Malabsorption
Cheilitis, Failure to thrive, Glossitis, Pallor ORPHA:90045
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Mucoepithelial Dysplasia, Hereditary
Alopecia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, Follicular hype... OMIM:158310
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
Spondyloenchondrodysplasia With Immune Dysregulation
Hypermelanotic macule, Autoimmune thrombocytopenia, Hypopigmented skin patches on arms, T lymphoc... OMIM:607944
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Elbow flexion contracture, Talipes equinovarus, Tongue atrophy OMIM:617114
Stickler Syndrome
Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Cleft upper lip, Open bit... ORPHA:828
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... OMIM:263520
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... ORPHA:99956
Congenital Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Polydactyly, Generalized hypertrichosis, Petechiae ORPHA:93400
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, A... ORPHA:101085
Agel Amyloidosis
Tongue atrophy, Xerostomia, Cutis laxa, Nail dystrophy, Sparse hair, Dry skin, Diffuse skin atrophy ORPHA:85448
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Reduced bone mineral density, High palate, Dystrophic fi... ORPHA:740
Down Syndrome
Redundant neck skin, Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protrudi... OMIM:190685
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters OMIM:132000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Smooth philtrum, Syndactyly, Short stature, Cleft lip, Widow's peak, Multiple cafe-au-lait spots,... OMIM:616975
Ataxia-Telangiectasia
Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Decreased... OMIM:208900
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth ORPHA:411511
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Weight loss, Pallor, Failure to thrive, Glossitis ORPHA:35858
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Protruding tongue, Prominent eyelashes, Gingival overgrowth, Long philtrum, Failur... OMIM:619179
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Highly arched eyebrow, P... OMIM:617062
Tetraamelia Syndrome 2
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in tongue movements, ... ORPHA:99949
Progeria-Short Stature-Pigmented Nevi Syndrome
Hyperpigmented nevi, T lymphocytopenia, Microcytic anemia ORPHA:2959
Angelman Syndrome
Protruding tongue, Obesity, Wide mouth, Macroglossia, Widely spaced teeth, Fair hair OMIM:105830
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Protruding tongue, Synophrys, Obesity, Downturned corners of mouth, Macrog... ORPHA:96147
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin... OMIM:249000
Degcags Syndrome
Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, High palate, Pallor, Syn... OMIM:619488
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Thin upper lip vermilion, Short stature, Thick hair, Highly arched eyebrow, Synophrys... ORPHA:444077
9q subtelomeric deletion syndrome
Synophrys, Protruding tongue DECIPHER:52
Simpson-Golabi-Behmel Syndrome, Type 1
Postauricular pit, Narrow greater sciatic notch, Short palm, Preauricular pit, Exaggerated median... OMIM:312870
Hypomandibular Faciocranial Dysostosis
Pursed lips, Coronal craniosynostosis, Aglossia OMIM:241310
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Cleft palate, Narrow mouth OMIM:202650
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Gloss... ORPHA:79284
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Bifid uvu... OMIM:270400
Generalized Pustular Psoriasis
Overweight, Cheilitis, Obesity, Erythematous plaque, Geographic tongue ORPHA:247353
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Narrow mouth, Bifid uvula ORPHA:1790
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Hypopigmentation of hair, Widely spaced teeth, Protruding tongue ORPHA:98795
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Bilateral camptod... OMIM:619777
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Preauricular pit, Thin upper lip vermilion, Natal tooth, Absent nipple, Broad hallux, Single tran... OMIM:620186
Joubert Syndrome 1
Highly arched eyebrow, Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly,... OMIM:213300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia... ORPHA:508533
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Short stature,... OMIM:309580
Giant Cell Arteritis
Alopecia, Glossitis, Skin ulcer, Weight loss ORPHA:397
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth ORPHA:98794
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Single transverse palmar crease, Synophrys, Low anterior hairline, Short... OMIM:619841
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Aplas... ORPHA:83471
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of tongue, Postaxial ha... ORPHA:434179
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Tongue atrophy, Tongue fasciculations OMIM:211530
Cerebrocostomandibular Syndrome
Short stature, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, Intrauterine growth re... ORPHA:1393
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations OMIM:614153
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations ORPHA:276198
Neuroocular Syndrome
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Downturned corners of mouth, Wi... OMIM:619539
Icf Syndrome
Macroglossia, Malabsorption, Short stature, Protruding tongue ORPHA:2268
Opitz Gbbb Syndrome
Preauricular pit, Natal tooth, Short stature, Craniosynostosis, Cleft lip, Widow's peak, Tracheoe... ORPHA:2745
Developmental And Epileptic Encephalopathy 31B
Failure to thrive, Gingival overgrowth, Protruding tongue OMIM:620352
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Tented upper lip vermilion,... ORPHA:2729
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Cleft upper lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Abnormal pelv... ORPHA:93271
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Flexion contracture of finger, Tongue atrophy, Hand musc... ORPHA:466768
Vici Syndrome
Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Single transverse palmar crease, High, narrow palate, Synophrys, Short philtrum, High palate, Ove... OMIM:619475
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Generalized hypertrichosis ORPHA:93399
Angelman Syndrome
Protruding tongue, Obesity, Wide mouth, Widely spaced teeth, Delayed menarche, Fair hair ORPHA:72
Pallister-Hall Syndrome
Large for gestational age, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Short stature, Acce... ORPHA:672
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Protruding tongue OMIM:619580
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Orofaciodigital Syndrome Xiv
Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer... OMIM:615948
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Narrow mouth, Esophageal str... OMIM:226600
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia of the eyebrow, Narrow mouth ORPHA:990
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Broad uvula, Bifid uvula, Long toe, Alopecia... OMIM:619472
Meckel Syndrome
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Postaxial ... ORPHA:564
Fraser Syndrome
Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Abnormal hair pattern, Cleft u... ORPHA:2052
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Glossitis, Smooth p... ORPHA:79282
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Decreased body weight, Protruding tongue ORPHA:258
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Pallor, Ganglioneuroma... ORPHA:653
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Dystrophic fingernails, Nail dystrophy, Dystrophic toenail ORPHA:158676
Glucagonoma
Intestinal obstruction, Necrolytic migratory erythema, Weight loss, Steatorrhea, Stomatitis, Glos... ORPHA:97280
Carney Complex
Atypical nevi in non-sun exposed areas, Neoplasm of the stomach, Esophageal neoplasm, Hirsutism, ... ORPHA:1359
Kawasaki Disease
Palmoplantar erythema, Abnormality of nail color, Glossitis, Cheilitis ORPHA:2331
Microsporidiosis
Skin nodule, Glossitis, Cachexia, Weight loss ORPHA:2552
Plague
Chapped lip, Localized skin lesion, Abnormality of the elbow, Enterocolitis, Skin ulcer, Inflamma... ORPHA:707
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Failure to thrive, Ankyloglossia, Osteoporosis OMIM:619525
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Protruding tongue ORPHA:98889
Nail Disorder, Nonsyndromic Congenital, 8
Dystrophic toenail OMIM:607523
Choreoacanthocytosis
Weight loss, Protruding tongue ORPHA:2388

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 Col7a1

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 Col7a1.

No publications found that use IMPC mice or data for Col7a1.

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
Col7a1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Col7a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Col7a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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