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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Milia, Hyperkeratotic papule, Localized skin lesion, Palmoplantar blistering, Skin erosion, Mitte... ORPHA:79410
Dystrophic Epidermolysis Bullosa Pruriginosa
Milia, Skin plaque, Abnormality of the wrist, Abnormality of the elbow, Dermal atrophy, Abnormal ... ORPHA:89843
Transient Bullous Dermolysis Of The Newborn
Milia, Atrophic scars OMIM:131705
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Hyperkeratosis, Nail dystrophy OMIM:131850
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Milia, Skin erosion, Dystrophic fingernails, Dystrophic toenail, Oral mucosal blisters, Nail dyst... ORPHA:231568
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Milia, Atrophic scars OMIM:131750
Self-Improving Dystrophic Epidermolysis Bullosa
Milia, Skin erosion, Aplasia cutis congenita, Mitten deformity, Enamel hypoplasia, Oral mucosal b... ORPHA:79411
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Milia, Delayed puberty, Skin erosion, Aplasia cutis congenita, Esophageal stenosis, Anal fissure,... ORPHA:89842
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Milia, Erythema, Dystrophic fingernails, Abnormality of the elbow, Dermal atrophy, Dystrophic toe... ORPHA:158673
Recessive Dystrophic Epidermolysis Bullosa Inversa
Milia, Localized skin lesion, Palmoplantar blistering, Mitten deformity, Esophageal stricture, En... ORPHA:79409
Epidermolysis Bullosa Pruriginosa
Milia OMIM:604129
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Milia, Delayed puberty, Aplasia cutis congenita, Anal fissure, Mitten deformity, Ankyloglossia, O... ORPHA:79408
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin, Oral mucosal blisters, Nail dystrophy OMIM:132000
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Milia, Atrophic scars, Mitten deformity, Alopecia, Esophageal stricture, Oral mucosal blisters, E... OMIM:226600
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Dystrophic fingernails, Dystrophic toenail, Nail dystrophy 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
B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Hyperkeratotic papule, Localized skin lesion, Palmoplantar blistering, Skin erosion, Mitte... ORPHA:79410
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Darier Disease
Acrokeratosis, Plantar pits, Hypermelanotic macule, Subungual hyperkeratotic fragments, Anal muco... ORPHA:218
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Wells Syndrome
Skin vesicle, Eosinophilia ORPHA:901
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, Pyoderma gangrenosum, B lymphocytopenia, Spl... OMIM:150550
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Dowling-Degos Disease
Palmar pits, Hyperkeratotic papule, Anal margin squamous cell carcinoma, Hypopigmented macule, Hy... ORPHA:79145
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, B lymphocytopenia, Increased... OMIM:618459
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle ORPHA:2841
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Cleft palate, Tapered finger, Glossoptosis, Pierre-Robin sequence... OMIM:311895
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Parakeratosis, Oral mucosal blisters, Skin vesicle, Nail dystrophy, Palmoplanta... ORPHA:158681
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmoplantar erythema, Facial erythema, Striae distensae, Erythematous papule, Skin vesicle, Urti... ORPHA:64745
Pyoderma Gangrenosum
Myeloid leukemia, Skin vesicle, Atrophic scars, Papule, Skin ulcer ORPHA:48104
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Dermatitis Herpetiformis
Erythema, Skin vesicle, Microcytic anemia, Macule ORPHA:1656
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Hypotrichosis And Recurrent Skin Vesicles
Sparse body hair, Sparse axillary hair, Follicular hyperkeratosis, Angular cheilitis, Sparse eyeb... OMIM:613102
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Skin ulcer, T lymphocytopenia ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Eosinophilia, Thrombocytopenia, B lym... OMIM:603554
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia OMIM:618108
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Iga Pemphigus
Skin plaque, Skin erosion, Eosinophilia, Annular cutaneous lesion, Cutaneous abscess, Skin vesicle ORPHA:555905
Pemphigus Foliaceus
Erythema, Skin erosion, Scaling skin, Serpiginous cutaneous lesion, Abnormal oral mucosa morpholo... ORPHA:79481
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytope... OMIM:618048
Catel-Manzke Syndrome
Camptodactyly of finger, Short stature, Abnormal epiphysis morphology, Clinodactyly of the 5th fi... ORPHA:1388
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Hyperkeratosis, Skin vesicle ORPHA:254478
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Anemia, Increased proportion of e... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... OMIM:619705
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Papule, Dermal atrophy, Skin vesicle ORPHA:257
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count, Subcutaneous nodule OMIM:241600
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Abnorma... ORPHA:3104
Dyskeratosis Congenita
Abnormal eyebrow morphology, Malabsorption, Macule, White hair, Periodontitis, Carious teeth, Ski... ORPHA:1775
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Abnormality of the dentition, Dystrophic fingernails, Osteopenia, Cleft palate,... ORPHA:2314
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Severe B lymphocytopenia... OMIM:102700
Sweet Syndrome
Leukocytosis, Erythematous plaque, Chronic lymphatic leukemia, Anemia, Skin nodule, Pyoderma gang... ORPHA:3243
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Splenomegaly, Increased... OMIM:615513
Hennekam-Beemer Syndrome
Camptodactyly of finger, High palate, Erythema, Short stature, Macule, Failure to thrive, Skin ve... ORPHA:2135
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia, ... OMIM:620133
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia OMIM:615966
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Eosinophilia, Erythematous papule, B lymphocytopenia, Abnorma... OMIM:602450
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Leukocyte Adhesion Deficiency Type Ii
Premature loss of teeth, Long eyelashes, Small for gestational age, Overlapping toe, Severe perio... ORPHA:99843
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
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Thrombocytopenia, B l... OMIM:301078
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Weight loss, Cleft palate ORPHA:141152
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Scaling skin, Autoimmune hemolytic... OMIM:606367
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Short thumb, Radial deviation of the hand, Hypoplasia of the radius, N... OMIM:227270
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... OMIM:619652
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Porphyria Variegata
Milia, Localized skin lesion, Skin erosion, Anemia, Skin vesicle ORPHA:79473
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Advanced ossification of carpal bones, Coxa valga, Short stature, Cleft palate, Short long bone, ... OMIM:620269
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Truncal obesity, Short stature, Brachydactyly... ORPHA:2928
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Dry skin, Lymphopenia, Reticulocytopenia, Thromb... ORPHA:508542
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Short distal phalanx of finger, Low anterior hairline, Short 4th metacar... ORPHA:3201
Dystrophic Epidermolysis Bullosa Pruriginosa
Milia, Skin plaque, Abnormality of the wrist, Abnormality of the elbow, Dermal atrophy, Abnormal ... ORPHA:89843
Orofaciodigital Syndrome Iv
Short finger, Lobulated tongue, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia... OMIM:258860
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Aplasia cutis congenita, Skin erosion, Mitten deformity, Widely spaced toes... OMIM:609638
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Intrauterine growth retarda... ORPHA:1972
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Severe B lymphocytopenia, Abnormal lymphocyte morphology ORPHA:293978
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Chronic neutropenia, Autoimmune thrombocyt... OMIM:614700
Lipoid Proteinosis
High palate, Hyperkeratosis, Tongue nodules, Abnormal oral mucosa morphology, Microglossia, Alope... ORPHA:530
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, High palate, Tooth malposition, Ulnar deviation of ... ORPHA:1387
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Preaxial foot polydactyly, Cleft palate, Meta... OMIM:252100
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Accessory spleen OMIM:620005
Cleidocranial Dysplasia
Dystrophic toenail, Cleft palate, Supernumerary tooth, Carious teeth, Decreased skull ossificatio... ORPHA:1452
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Psoriasiform lesion, Decreased proportion of CD3-positive T cells, Autoimmune... ORPHA:169154
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Epiphyseal stippling OMIM:614876
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural ki... ORPHA:35078
Whistling Face Syndrome, Recessive Form
Camptodactyly, High palate, Ulnar deviation of finger, Shoulder flexion contracture, Narrow mouth... OMIM:277720
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair, Erythema, Con... OMIM:257980
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Short distal phalanx of finger, Abnormality of the humerus, Hip dislocati... ORPHA:3098
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Camptodactyly, Open mouth, High palate, Pierre-Robin sequence, Intrauterine growth retardation, S... OMIM:613604
Cronkhite-Canada Syndrome
Sparse body hair, Patchy alopecia, Colon cancer, Malabsorption, Dystrophic fingernails, Intestina... ORPHA:2930
Clark-Baraitser syndrome
Widely-spaced maxillary central incisors, Maxillary lateral incisor microdontia, Tapered finger, ... OMIM:300602
Orofaciodigital Syndrome Xv
Postaxial hand polydactyly, Midline notch of upper alveolar ridge, Broad hallux, Duplication of p... OMIM:617127
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Gingival bleeding, Ankyloglossia, Dystrophic toenail, Abnormal pigmentat... ORPHA:2907
Cohen Syndrome
Delayed puberty, Tooth agenesis, Narrow palm, Thick eyebrow, Slender toe, Long eyelashes, Intraut... ORPHA:193
Seckel Syndrome 2
Small for gestational age, Microdontia, Short stature, Few cafe-au-lait spots, Microglossia, Grow... OMIM:606744
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Absent natural killer cells, Aplastic anemia, Hemophagocytosis, Granulomatosi... ORPHA:2442
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Abnormal metacarpal morphology, Cleft palate ORPHA:166100
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the dentition, Erythema, Skin fissure, Osteolysis, Alopecia, Abnormality of the to... ORPHA:659
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, B lymphocytopenia, Hypochromic microcytic anemia, Splenomegaly, Schistocytosis OMIM:616084
Arthrogryposis, Distal, Type 5D
Camptodactyly, Open mouth, Congenital hip dislocation, Furrowed tongue, Calcaneovalgus deformity,... OMIM:615065
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Talipes equinovarus ORPHA:496689
Epilepsy, Progressive Myoclonic, 9
Microglossia, Short thumb OMIM:616540
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Bifid tongue, Cleft upper lip, Cone-shaped epiphysis, Brachydactyly, Absent tibia, ... OMIM:613091
Otospondylomegaepiphyseal Dysplasia
Abnormal iliac wing morphology, Abnormal long bone morphology, Dumbbell-shaped femur, Bifid uvula... ORPHA:1427
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Delayed ossification of carpal bones, Short long bone, Flared metaphysis, Carious teeth, Glossopt... ORPHA:93346
Joubert Syndrome 18
Camptodactyly, Postaxial polydactyly, Trident pelvis, Intrauterine growth retardation, Cleft pala... OMIM:614815
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Lymphopenia, Reduced natural killer cell count, Decreased... OMIM:619510
Orofaciodigital Syndrome Type 5
Abnormality of the philtrum, Postaxial foot polydactyly, Cleft soft palate, Bifid uvula, Postaxia... ORPHA:2919
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Cleft palate, Narrow mouth, Smooth philtrum, Single transverse palmar crease, Camptod... OMIM:611209
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Hartnup Disorder
Glossitis, Short stature OMIM:234500
Orofaciodigital Syndrome Xix
Postaxial foot polydactyly, High palate, Type A brachydactyly, Low posterior hairline, Accessory ... OMIM:620107
Mulibrey Nanism
Intrauterine growth retardation, Enamel hypoplasia, Short stature, Dental crowding, Dental malocc... OMIM:253250
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Split foot, High palate, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb,... ORPHA:1307
Orofaciodigital Syndrome Type 1
Brittle hair, Cleft palate, Short toe, Preaxial hand polydactyly, Lobulated tongue, Sparse hair, ... ORPHA:2750
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Cleft palate, ... ORPHA:440354
Auriculocondylar Syndrome 2
Short mandibular rami, Cleft palate, Dental crowding, Narrow mouth, Mandibular condyle aplasia, D... OMIM:614669
Acrocallosal Syndrome
Bifid uvula, Preaxial foot polydactyly, Cleft palate, Toe syndactyly, Prominent palatine ridges, ... OMIM:200990
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, 2-3 toe syndactyly, Short philtrum, Single transverse palmar crease,... OMIM:613443
Stuve-Wiedemann Syndrome 1
Clubbing, Contracture of the proximal interphalangeal joint of the 5th finger, Short tibia, Thin ... OMIM:601559
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Moebius Syndrome
Open mouth, Absent hand, Tooth agenesis, High palate, Aplasia/Hypoplasia of the tongue, Aplasia/H... ORPHA:570
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Hip dysplasia, Polydactyly, Abnormal tongue morphology, Downturned corners of m... ORPHA:531151
Orofaciodigital Syndrome Vi
Incomplete cleft of the upper lip, Preaxial foot polydactyly, Cleft palate, Toe syndactyly, Fibul... OMIM:277170
Tarp Syndrome
High palate, Bilateral talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Intr... OMIM:311900
Chikungunya
Erythema, Gingival bleeding, Osteolysis, Macule, Periostitis, Skin vesicle, Petechiae ORPHA:324625
Mandibuloacral Dysplasia
High palate, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalange... ORPHA:2457
Marshall-Smith Syndrome
Craniosynostosis, Open mouth, Reduced bone mineral density, Slender long bone, Protruding tongue,... ORPHA:561
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Reduced natural killer ce... ORPHA:221139
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Hemifacial Atrophy, Progressive
Patchy alopecia, Short mandibular rami, Poliosis, Tongue atrophy, Dental malocclusion, Delayed er... OMIM:141300
Spondyloepiphyseal Dysplasia Congenita
Reduced bone mineral density, Flat acetabular roof, Osteoporosis, Dysplasia of the femoral head, ... ORPHA:94068
Holzgreve Syndrome
Hand polydactyly, Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Abnormal met... ORPHA:2167
Pachyonychia Congenita 3
Oral leukoplakia, Nail dystrophy, Follicular hyperkeratosis, Plantar hyperkeratosis, Palmoplantar... OMIM:615726
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Camptodactyly of finger, Prominent protruding coccyx, Aplasia/Hyp... ORPHA:2839
Orofaciodigital Syndrome Type 6
High palate, Hand polydactyly, Mesoaxial polydactyly, Preaxial polydactyly, Syndactyly, Tongue no... ORPHA:2754
Lelis Syndrome
Absent lower eyelashes, Furrowed tongue, Yellow nails, Sparse lateral eyebrow, Hypodontia, Cariou... ORPHA:140936
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Cafe-au-lait spot, Thrombocytopenia, B lymphocytopenia, T lymphocyto... OMIM:251260
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of the dentition, Alopecia universalis, Cheilitis, Follicular hyperkeratosis, Scaling... ORPHA:158668
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of... OMIM:242700
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Short distal phalanx of finger, Camptodactyly, High palate, Overlapping ... OMIM:300963
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Unicoronal synostosis, Cleft palate, ... OMIM:616300
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Ankyloglossia, Toe syndactyly, Broad thu... ORPHA:1507
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Preaxial foot polydactyly, Cleft pal... ORPHA:2751
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... ORPHA:391487
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Hip dislocation, Short stature, Cleft palate, Toe syndactyly, Postaxi... OMIM:241800
Congenital Disorder Of Glycosylation, Type Iia
Open mouth, Long eyelashes, Diastema, Osteopenia, Proximal placement of thumb, Coxa valga, Thick ... OMIM:212066
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Clubbing, Malabsorption, Xerostomia, Protein-losing enteropathy, Alopecia, Cachexia, C... OMIM:175500
Transient Bullous Dermolysis Of The Newborn
Milia, Atrophic scars OMIM:131705
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Gingival overgrowth, Sparse hair, Tracheoesophageal fistula, Furrowed tongue... ORPHA:1839
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Ulnar deviation of finger, Short stature, Cleft pa... ORPHA:1358
Psoriasis 14, Pustular
Erythema, Parakeratosis, Geographic tongue, Nail dystrophy, Furrowed tongue OMIM:614204
Trisomy 8Q
Camptodactyly of finger, High palate, Deep palmar crease, Cleft palate, Everted lower lip vermili... ORPHA:1752
Agammaglobulinemia, X-Linked
Neutropenia, Anemia, B lymphocytopenia, T lymphocytopenia OMIM:300755
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Diastema, High palate, Patchy alopecia, Thick eyebrow, Short stat... OMIM:300534
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy, Areflexia of upper limbs, Talipes equinovarus OMIM:616155
Orofaciodigital Syndrome V
Postaxial foot polydactyly, High palate, Bifid uvula, Postaxial polydactyly, Ankyloglossia, Agang... OMIM:174300
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Hyperkeratosis, Nail dystrophy OMIM:131850
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Bilateral cleft lip and palate, Ankyloglossia, Enamel hypoplasia, Cafe-au-lait spot,... OMIM:618874
Cousin Syndrome
Rhizomelia, Cleft palate, Fibular aplasia, Microglossia, Facial hirsutism, Joint contracture of t... OMIM:260660
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia, Redundant skin ORPHA:79324
Orofaciodigital Syndrome I
Polydactyly, Agenesis of permanent teeth, Ankyloglossia, Cleft palate, Supernumerary tooth, Cario... OMIM:311200
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Milia, Skin erosion, Dystrophic fingernails, Dystrophic toenail, Oral mucosal blisters, Nail dyst... ORPHA:231568
Chronic Graft Versus Host Disease
Erythema, Xerostomia, Esophageal stricture, Alopecia, Intermittent generalized erythematous papul... ORPHA:99921
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Oligodontia, Short thumb, Cleft palate, Carpal synostosis, Fibular aplas... ORPHA:90652
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Bifid uvula, Microdontia, Tongue nodules, Postaxial hand polydactyly,... OMIM:258850
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Robinow Syndrome, Autosomal Dominant 1
Rhizomelia, Broad thumb, Narrow palate, Bifid tongue, Nevus flammeus, Brachydactyly, Bifid distal... OMIM:180700
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Broad thumb, A... OMIM:268310
Down Syndrome
Macroglossia, Anal atresia, Open mouth, Abnormality of the dentition, Obesity, Microdontia, Agang... ORPHA:870
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Shoulder girdle muscle weakness, Scapular winging OMIM:158900
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Milia, Atrophic scars OMIM:131750
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Abnormal eyebrow morphology, Fine hair, Hypopigmentation of hair, Genera... ORPHA:2221
Acrodermatitis Enteropathica
Glossitis, Erythema, Abnormal eyebrow morphology, Malabsorption, Cheilitis, Dry skin, Alopecia, A... ORPHA:37
Contractures-Developmental Delay-Pierre Robin Syndrome
Hip dysplasia, Short thumb, Overlapping toe, Abnormal finger morphology, Cleft palate, High, narr... ORPHA:436003
Bazex-Dupre-Christol Syndrome
Milia, Trichorrhexis nodosa, Coarse hair, Nevus, Sparse hair, Furrowed tongue, Pili torti OMIM:301845
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Pierre-Robin s... OMIM:192445
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Synophrys, Aplasia of the distal phalanx of the 5th finger, Exaggerated cupid's bow,... ORPHA:364577
Auriculocondylar Syndrome 1
Cleft palate, Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Glo... OMIM:602483
Gracile Bone Dysplasia
Ankyloglossia, Short stature, Slender long bone, Failure to thrive, Flared metaphysis, Decreased ... OMIM:602361
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Burning Mouth Syndrome
Parageusia, Strawberry tongue, Xerostomia, Tongue pain, Abnormality of taste sensation, Abnormali... ORPHA:353253
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligodontia, Cleft palate, Microglossia, Smooth philtrum, Intrauterine growth retardation, Clinod... OMIM:608670
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Hyperextensibility of the finger joints, Failure to thrive, Cleft palate OMIM:618356
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Milia, Erythema, Aplasia cutis congenita, Enamel hypoplasia, Alopecia, Oral muc... ORPHA:79396
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations, Hammertoe, Talipes equinovarus OMIM:601596
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Long palm... ORPHA:2759
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Hip dislocation, Tracheoesophageal fistula, Finger... ORPHA:958
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, Overlapping toe, Finger syndactyly, Nevus flammeus of the forehe... ORPHA:464738
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Intrauterine growth retardation, Cleft palate, Protruding tongue, Failure to thrive,... OMIM:612938
Hypoglossia-Hypodactyly Syndrome
Short distal phalanx of finger, Anal atresia, High palate, Aplasia/Hypoplasia of the tongue, Jeju... ORPHA:989
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells OMIM:307200
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Open mouth, High palate, Synophrys, Widow's peak, Cafe-au-lait spot, Tapered finger, Everted lowe... OMIM:617804
Cowden Syndrome
Macroglossia, High palate, Hypopigmented skin patches, Generalized hyperkeratosis, Colorectal pol... ORPHA:201
Auriculocondylar Syndrome
Periauricular skin pits, Bifid uvula, Difficulty in tongue movements, Cleft palate, Dental crowdi... ORPHA:137888
Developmental And Epileptic Encephalopathy 80
Short distal phalanx of finger, High palate, Tapered finger, Tented upper lip vermilion, Protrudi... OMIM:618580
Self-Improving Dystrophic Epidermolysis Bullosa
Milia, Skin erosion, Aplasia cutis congenita, Mitten deformity, Enamel hypoplasia, Oral mucosal b... ORPHA:79411
Mandibulofacial Dysostosis With Alopecia
Alopecia, Everted lower lip vermilion, Cleft palate, Dental crowding, Preauricular pit, Glossopto... OMIM:616367
Robinow Syndrome, Autosomal Dominant 3
Camptodactyly, Long eyelashes, Anteriorly placed anus, Agenesis of permanent teeth, Cleft lip, Sy... OMIM:616894
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... ORPHA:443811
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations, Hip dislocation, Growth delay OMIM:614678
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Abnormality of the dentition, Irregular dentition, Bifid uvula, Abnor... ORPHA:2752
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Disproportionate short-trunk short ... OMIM:200600
Yunis-Varon Syndrome
Hip dislocation, Short upper lip, Rocker bottom foot, Gingival recession, Short toe, Sparse eyebr... ORPHA:3472
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Absent axillary hair, Sparse eyelashes, Furrowed tongue, Microdontia, Sparse ey... OMIM:148210
Tarp Syndrome
Hand polydactyly, Abnormal duodenum morphology, Hypoplasia of proximal radius, Postaxial polydact... ORPHA:2886
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Decreased proportion of naive T cells, B lymphocytopen... OMIM:619381
Catel-Manzke Syndrome
Bifid uvula, Cleft palate, Narrow mouth, Short toe, Single transverse palmar crease, Cleft upper ... OMIM:616145
Hallermann-Streiff Syndrome
Sparse body hair, Abnormality of the dentition, Reduced bone mineral density, Dermal atrophy, Alo... ORPHA:2108
Autosomal Dominant Robinow Syndrome
Camptodactyly of finger, Oligodontia, Hip dislocation, Hip dysplasia, Median cleft lip and palate... ORPHA:3107
Kinsship Syndrome
Hip dislocation, Polydactyly, Ankyloglossia, Widely spaced teeth, Smooth philtrum, Single transve... OMIM:619297
Intellectual Developmental Disorder, Autosomal Dominant 29
Open mouth, High palate, Hip dysplasia, Nevus flammeus, Synophrys, Ankyloglossia, Dental crowding... OMIM:616078
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Malabsorption, Alopecia, Short stature, Failure to thrive, Glossoptos... ORPHA:47
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Rabson-Mendenhall Syndrome
Macroglossia, High palate, Abnormality of the dentition, Lichenoid skin lesion, Thick hair, Polyd... ORPHA:769
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic an... OMIM:615607
Lenz-Majewski Hyperostotic Dwarfism
Cleft palate, Microglossia, Diaphyseal thickening, Sparse hair, Cutaneous finger syndactyly, Intr... OMIM:151050
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Short-Rib Thoracic Dysplasia 12
Short finger, Median cleft lip and palate, Hypoplastic nipples, Hypoplastic scapulae, Intrauterin... OMIM:269860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absen... OMIM:600802
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Milia, Delayed puberty, Skin erosion, Aplasia cutis congenita, Esophageal stenosis, Anal fissure,... ORPHA:89842
Intellectual Developmental Disorder, Autosomal Dominant 58
Single transverse palmar crease, High palate, Submucous cleft hard palate, Short stature, Dental ... OMIM:618106
Marshall-Smith Syndrome
Short distal phalanx of finger, Hip dysplasia, Large sternal ossification centers, Brittle hair, ... OMIM:602535
Plummer-Vinson Syndrome
Glossitis, Cheilitis, Intra-oral hyperpigmentation, Narrow mouth, Tongue atrophy, Pallor, Esophag... ORPHA:54028
Basel-Vanagaite-Smirin-Yosef Syndrome
High palate, Nevus flammeus of the forehead, Cleft palate, Everted lower lip vermilion, Tented up... OMIM:616449
Au-Kline Syndrome
Craniosynostosis, Oligodontia, Open mouth, High palate, Hip dysplasia, Bifid uvula, Postaxial pol... OMIM:616580
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Abnormality of the dentition, Abnormal metaphysis morphology, Abnormal c... ORPHA:3206
Frontorhiny
Camptodactyly of finger, Widow's peak, Cleft palate, Finger clinodactyly, Bifid tongue, Dermoid c... ORPHA:391474
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Ankyloglossia, Cleft palate, Highly arch... ORPHA:261330
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft lip and palate, Broad thumb, Bifid tongue, Intestinal malrotation, Clinodactyly o... ORPHA:2001
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Overlapping toe, Ankyloglossia, Intrauterine growth retardation, Short stature, Rocker bottom foo... ORPHA:488642
Raine Syndrome
Increased bone mineral density, High palate, Microdontia, Enamel hypoplasia, Cleft palate, Brachy... OMIM:259775
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Distal Deletion 15Q
Short distal phalanx of finger, Aplasia cutis congenita over the scalp vertex, Hip dislocation, C... ORPHA:1596
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Kleefstra Syndrome 1
Macroglossia, Single transverse palmar crease, Synophrys, Obesity, Persistence of primary teeth, ... OMIM:610253
1Q21.1 Microdeletion Syndrome
High palate, Hand polydactyly, Ankyloglossia, Intrauterine growth retardation, Short stature, Fai... ORPHA:250989
Cowden Syndrome 5
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Skin tags, Palmoplantar hype... OMIM:615108
Ring Chromosome 22 Syndrome
Thick eyebrow, Protruding tongue, Growth delay, 2-3 toe syndactyly, Thick vermilion border, Large... ORPHA:1446
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Narrow palate, 2-3 toe syndactyly, Dental crowding ORPHA:313892
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Milia, Erythema, Dystrophic fingernails, Abnormality of the elbow, Dermal atrophy, Dystrophic toe... ORPHA:158673
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Abnormal palate morphology, Short lingual frenulum, Bifid tongue, S... ORPHA:3241
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology ORPHA:97230
Congenital Disorder Of Glycosylation, Type Iie
Excessive wrinkled skin, Low anterior hairline, Intrauterine growth retardation, Short stature, P... OMIM:608779
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Tooth agenesis, Hip dysplasia, Bifid uvula, Cleft palate, Bifid tongue, Sagittal craniosynostosis... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Tooth agenesis, Hip dysplasia, Bifid uvula, Cleft palate, Bifid tongue, Sagittal craniosynostosis... ORPHA:352665
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Open mouth, Downturned corners of mouth, Protruding tongue OMIM:618732
Cowden Syndrome 6
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Skin tags, Palmoplantar hype... OMIM:615109
Recessive Dystrophic Epidermolysis Bullosa Inversa
Milia, Localized skin lesion, Palmoplantar blistering, Mitten deformity, Esophageal stricture, En... ORPHA:79409
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal lymphocyte count, Anemia, Ab... ORPHA:79124
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Craniosynostosis, Oligodontia, Open mouth, High palate, Hip dysplasia, Bifid uvula,... ORPHA:453499
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Diastema, Widely-spaced maxillary central incisors, Coxa valga, Tapered finger, U-S... OMIM:301040
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, High palate, Redundant neck skin, Ulnar deviation of the hand, Rocker bottom foot, ... OMIM:214100
Hypoglossia-Hypodactylia
Aglossia, Narrow mouth, Microglossia, Adactyly, Split hand OMIM:103300
Pallister-Hall Syndrome
Oligodactyly, Postaxial foot polydactyly, Anal atresia, Y-shaped metacarpals, Hip dislocation, An... OMIM:146510
Cowden Syndrome 1
Acrokeratosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Skin tags, Pa... OMIM:158350
Chand Syndrome
Short fifth metatarsal, Skin erosion, Agenesis of permanent teeth, Agenesis of maxillary incisor,... ORPHA:1401
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Widely spaced teeth, Thick eyebrow, Cleft palate, Long fingers, High anterior hair... OMIM:619950
Helsmoortel-Van Der Aa Syndrome
Oligodontia, Polydactyly, Ankyloglossia, Widely spaced teeth, Truncal obesity, High anterior hair... OMIM:615873
Hartnup Disease
Glossitis, Hypopigmented skin patches, Malabsorption, Short stature, Gingivitis ORPHA:2116
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Glossitis, Small for gestational age, Stomatitis, Short stature, Failure to thrive, ... OMIM:277380
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Metaphyseal cupping, Rhizomelia, Short metacarpal, Abnormal epiph... ORPHA:50945
Cerebrocostomandibular Syndrome
Short humerus, High palate, Congenital hip dislocation, Anteriorly placed anus, Postnatal growth ... OMIM:117650
Robinow Syndrome
Short distal phalanx of finger, Tooth malposition, Ankyloglossia, High anterior hairline, Bifid t... ORPHA:97360
Ramos-Arroyo Syndrome
Severe short stature, Shoulder dimple, Xerostomia, Aganglionic megacolon, High anterior hairline,... ORPHA:1051
Smith-Lemli-Opitz Syndrome
Hip dislocation, Tooth agenesis, Proximal placement of thumb, Rhizomelia, Cleft palate, Supernume... ORPHA:818
Carey-Fineman-Ziter Syndrome 1
High palate, Tapered finger, Cleft palate, Pectoralis hypoplasia, Failure to thrive, Growth delay... OMIM:254940
Gm1-Gangliosidosis, Type Ii
Coxa valga, Failure to thrive, Protruding tongue, Narrow mouth, Gingival overgrowth, Thin bony co... OMIM:230600
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin, Low anterior hairline, Thick eyebrow, Protruding tongue, Horizontal eyebrow, High anter... OMIM:618797
Treacher-Collins Syndrome
High palate, Abnormality of the dentition, Tooth agenesis, Abnormality of bone mineral density, L... ORPHA:861
Distal Deletion 12Q
Supernumerary tooth, Microglossia, Smooth philtrum, Single transverse palmar crease, Large hands,... ORPHA:96149
Epidermolysis Bullosa Pruriginosa
Milia OMIM:604129
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Oligodontia, Hypoplastic nipples, Absent distal phalanges, Narrow... OMIM:612289
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short stature, Clinodactyly of the 5th finger ORPHA:2031
Mucoepithelial Dysplasia, Hereditary
Follicular hyperkeratosis, Alopecia, Erythematous oral mucosa, Coarse hair, Nail dystrophy, Spars... OMIM:158310
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Microglossia, Hypodontia OMIM:612776
Spondyloenchondrodysplasia With Immune Dysregulation
Hypermelanotic macule, Autoimmune thrombocytopenia, Lymphopenia, Hypopigmented skin patches on ar... OMIM:607944
Hereditary Folate Malabsorption
Cheilitis, Glossitis, Pallor, Failure to thrive ORPHA:90045
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Elbow flexion contracture, Tongue atrophy, Talipes equinovarus OMIM:617114
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Milia, Delayed puberty, Aplasia cutis congenita, Anal fissure, Mitten deformity, Ankyloglossia, O... ORPHA:79408
Stickler Syndrome
Macroglossia, Reduced bone mineral density, Hip dislocation, Tooth agenesis, Slender build, Abnor... ORPHA:828
Congenital Sialidosis Type 2
Polydactyly, Generalized hypertrichosis, Protruding tongue, Gingival overgrowth, Petechiae ORPHA:93400
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Hand muscle weakness, Tongue atrophy, Proximal muscle weakness in... ORPHA:99956
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Abnormal thumb morphology, Smooth philtrum, Everted lower lip vermilion ORPHA:324410
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Abnormality of the hand, Flexion contracture of finger, Scapular winging, D... ORPHA:101085
Agel Amyloidosis
Dry skin, Xerostomia, Tongue atrophy, Diffuse skin atrophy, Cutis laxa, Nail dystrophy, Sparse hair ORPHA:85448
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin, Oral mucosal blisters, Nail dystrophy OMIM:132000
Hutchinson-Gilford Progeria Syndrome
Hip dislocation, Osteolytic defects of the distal phalanges of the hand, Ankyloglossia, Dystrophi... ORPHA:740
Down Syndrome
Macroglossia, Anal atresia, Redundant neck skin, Short stature, Aganglionic megacolon, Protruding... OMIM:190685
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Disproportionate shortening of the ti... OMIM:263520
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Hip dysplasia, Duodenal atresia, Cleft lip, Furrowed tongue, Widow's peak, Syndactyl... OMIM:616975
Ataxia-Telangiectasia
Hypoplasia of the thymus, Leukemia, Acute lymphoblastic leukemia, Lymphopenia, Cafe-au-lait spot,... OMIM:208900
Imerslund-Gräsbeck Syndrome
Glossitis, Failure to thrive, Angular cheilitis, Pallor, Weight loss 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, Failure to thrive, Long philtrum, Gingival overgrowth, Prominen... OMIM:619179
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Protruding tongue, Hypopigmentation of hair, Wide mouth, Obesity ORPHA:411511
Tetraamelia Syndrome 2
Ankyloglossia, Cleft palate, Bilateral cleft lip, Glossoptosis, Absent nipple OMIM:618021
Okur-Chung Neurodevelopmental Syndrome
High palate, Synophrys, Clinodactyly of the 5th finger, Protruding tongue, Highly arched eyebrow,... OMIM:617062
Progeria-Short Stature-Pigmented Nevi Syndrome
Hyperpigmented nevi, Microcytic anemia, T lymphocytopenia ORPHA:2959
Angelman Syndrome
Macroglossia, Widely spaced teeth, Protruding tongue, Fair hair, Wide mouth, Obesity OMIM:105830
Meckel Syndrome, Type 1
Lobulated tongue, Postaxial foot polydactyly, Camptodactyly of finger, Anal atresia, Postaxial po... OMIM:249000
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Synophrys, Everted lower lip vermilion, Protruding tongue, Highly arched eyebrow, D... ORPHA:96147
9q subtelomeric deletion syndrome
Synophrys, Protruding tongue DECIPHER:52
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Short greater sciatic notch, Submucous cleft lip, Cleft palate, B... OMIM:312870
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips, Coronal craniosynostosis OMIM:241310
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, High palate, Long eyelashes, Thick hair, Hypoplasia of proximal radius, Synophrys, ... ORPHA:444077
Degcags Syndrome
Short thumb, Abnormal eyebrow morphology, Polydactyly, Toe syndactyly, Intestinal atresia, Smooth... OMIM:619488
Charcot-Marie-Tooth Disease Type 4C
Hip dysplasia, Difficulty in tongue movements, Failure to thrive, Tongue atrophy, Hammertoe, Tong... ORPHA:99949
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Intrauterine growth retardation, Failure to thrive, Cleft palate, Growth d... ORPHA:79284
Agnathia-Otocephaly Complex
Aglossia, Narrow mouth, Microglossia, Cleft palate OMIM:202650
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth ORPHA:1790
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98795
Autosomal Dominant Cerebellar Ataxia
Erythema, Tongue atrophy, Tongue fasciculations, Hyperkeratosis ORPHA:99
Smith-Lemli-Opitz Syndrome
Hip dislocation, Short thumb, Proximal placement of thumb, Bifid uvula, Cleft palate, Short toe, ... OMIM:270400
Developmental And Epileptic Encephalopathy 100
High palate, Synophrys, Microdontia, Enamel hypoplasia, Bilateral camptodactyly, Tented upper lip... OMIM:619777
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Single transverse palmar crease, Clinodactyly, Bifid uvula, Hypoplastic nipples, Ankyloglossia, B... OMIM:620186
Joubert Syndrome 1
Macroglossia, Triangular-shaped open mouth, Postaxial foot polydactyly, Protruding tongue, Highly... OMIM:213300
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short upper lip, Hypoplastic philtrum, Thick lower lip vermilion, Brachydactyly, Thin upper lip v... OMIM:309580
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Sacral dimple, Lymphopenia, Decreased proportion of CD4-positive helper T cell... ORPHA:508533
Giant Cell Arteritis
Glossitis, Alopecia, Skin ulcer, Weight loss ORPHA:397
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Protruding tongue, Hypopigmentation of hair, Wide mouth, Obesity ORPHA:98794
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations, Hand muscle atrophy OMIM:211530
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Widely spaced teeth, Highly arched eyebrow, Broad finger, Sparse eyebrow, Smooth p... OMIM:619841
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Accessory oral frenulum, Aplasia of the epiglottis, Cleft palate, Ham... ORPHA:434179
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Cerebrocostomandibular Syndrome
Short hard palate, Intrauterine growth retardation, Short stature, Cleft palate, Glossoptosis, Cl... ORPHA:1393
Melkersson-Rosenthal Syndrome
Macroglossia, Furrowed tongue, Cheilitis ORPHA:2483
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations OMIM:614153
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations ORPHA:276198
Neuroocular Syndrome
Ankyloglossia, Brittle hair, Widely spaced teeth, Thick eyebrow, Highly arched eyebrow, Long eyel... OMIM:619539
Icf Syndrome
Malabsorption, Macroglossia, Short stature, Protruding tongue ORPHA:2268
Opitz Gbbb Syndrome
Craniosynostosis, Anal atresia, High palate, Cleft lip, Ankyloglossia, Widow's peak, Short statur... ORPHA:2745
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Failure to thrive, Protruding tongue OMIM:620352
Okamoto Syndrome
Open mouth, Redundant neck skin, Facial hypertrichosis, Polydactyly, Hip dysplasia, Severe postna... ORPHA:2729
Vici Syndrome
Leukopenia, Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Upper limb amyotrophy, Hand muscle weakness, Flexion contracture of finger, Distal upper limb mus... ORPHA:466768
Juvenile Sialidosis Type 2
Generalized hypertrichosis, Gingival overgrowth, Protruding tongue ORPHA:93399
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Ankyloglossia, Thick eyebrow, Smooth philtrum, Single transverse palmar crease, ... OMIM:619475
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Microphthalmia, Syndromic 6
High palate, Polydactyly, Bifid uvula, Finger syndactyly, Abnormality of the hand, Clinodactyly o... OMIM:607932
Angelman Syndrome
Widely spaced teeth, Protruding tongue, Delayed menarche, Fair hair, Wide mouth, Obesity ORPHA:72
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Protruding tongue OMIM:619580
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Bifid uvula, Mesoaxial polydactyly, Cleft palate, Toe syndactyly, ... ORPHA:672
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Anal atresia, Abnormal metaphysis morphology, Absent or minimally ossified ve... ORPHA:93271
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Milia, Atrophic scars, Mitten deformity, Alopecia, Esophageal stricture, Oral mucosal blisters, E... OMIM:226600
Orofaciodigital Syndrome Xiv
Anteriorly placed anus, Preaxial polydactyly, Cleft lip, Cleft palate, Hamartoma of tongue, Posta... OMIM:615948
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Aplasia/Hypoplasia of the eyebrow, Microglossia ORPHA:990
Viss Syndrome
Hip dislocation, Hip dysplasia, Bifid uvula, Broad uvula, Rocker bottom foot, Hirsutism, Bifid to... OMIM:619472
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Cleft palate, Postaxial hand polyda... ORPHA:564
Fraser Syndrome
Anal atresia, High palate, Finger syndactyly, Dental crowding, Toe syndactyly, Dental malocclusio... ORPHA:2052
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glossitis, Stomatitis, Intrauterine growth retardation, Failure to thrive, Smooth philtrum, Growt... ORPHA:79282
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Glucagonoma
Glossitis, Stomatitis, Steatorrhea, Intestinal obstruction, Necrolytic migratory erythema, Weight... ORPHA:97280
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Decreased body weight, Protruding tongue ORPHA:258
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border, P... ORPHA:653
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Dystrophic fingernails, Dystrophic toenail, Nail dystrophy ORPHA:158676
Carney Complex
Neoplasm of the rectum, Multiple lentigines, Abnormal hard palate morphology, Abdominal obesity, ... ORPHA:1359
Microsporidiosis
Glossitis, Skin nodule, Cachexia, Weight loss ORPHA:2552
Kawasaki Disease
Cheilitis, Abnormality of nail color, Glossitis, Palmoplantar erythema ORPHA:2331
Plague
Glossitis, Inflammation of the large intestine, Localized skin lesion, Dry skin, Abnormality of t... ORPHA:707
Congenital Disorder Of Glycosylation, Type Iiw
Ankyloglossia, Osteoporosis, Supernumerary tooth, Failure to thrive OMIM:619525
Nail Disorder, Nonsyndromic Congenital, 8
Dystrophic toenail OMIM:607523
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Protruding tongue ORPHA:98889
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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