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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
Hyperkeratotic papule, Carious teeth, Keloids, Mitten deformity, Erythematous papule, Nail dystro... ORPHA:79410
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the elbow, Nail dystrophy, Atrophic scars, Dermal atrophy, Abnormality of the wris... ORPHA:89843
Transient Bullous Dermolysis Of The Newborn
Atrophic scars, Milia OMIM:131705
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Atrophic scars, Skin erosion, Erosion... ORPHA:231568
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Atrophic scars, Milia OMIM:131750
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Growth delay, Mitten deformity, Nevus, Failure to thrive, Aplasia cutis congenita,... ORPHA:89842
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Atrophic scars, Aplasia cutis congenita, Skin erosion, Milia, Oral... ORPHA:79411
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dystrophic fingernails, Erythematous plaque, Dystrophic toenail, Abnormality of the elbow, Erythe... ORPHA:158673
Epidermolysis Bullosa Dystrophica, Pretibial
Nail dystrophy, Hyperkeratosis OMIM:131850
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Growth delay, Mitten deformity, Nail dystrophy, Atrophic scars, Palmoplantar blist... ORPHA:79409
Epidermolysis Bullosa Pruriginosa
Milia OMIM:604129
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Growth delay, Mitten deformity, Nail dystrophy, Atrophic scars, Aplasia cutis cong... ORPHA:79408
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Mitten deformity, Nail dystrophy, Alopecia, Atrophic scars, Spontaneous esophageal ... OMIM:226600
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Nail dystrophy, Dystrophic fingernails, 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
B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 40
Lymphopenia OMIM:616433
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Carious teeth, Keloids, Mitten deformity, Erythematous papule, Nail dystro... ORPHA:79410
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Papular Xanthoma
Eruptive xanthomas, Skin plaque, Histiocytosis ORPHA:158008
Wells Syndrome
Eosinophilia, Skin vesicle ORPHA:901
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Darier Disease
Plantar pits, Abnormal hair morphology, Macule, Subungual hyperkeratotic fragments, Palmoplantar ... ORPHA:218
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Dowling-Degos Disease
Hyperkeratotic papule, Abnormality of the hand, Epidermoid cyst, Palmar pits, Erythematous papule... ORPHA:79145
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Tapered finger, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Familial Benign Chronic Pemphigus
Skin erosion, Erythema, Skin vesicle ORPHA:2841
Pruritic Urticarial Papules And Plaques Of Pregnancy
Erythematous plaque, Erythematous papule, Striae distensae, Palmoplantar erythema, Facial erythem... ORPHA:64745
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Pyoderma gangrenosum, Abscess, Splenomega... OMIM:150550
Pyoderma Gangrenosum
Atrophic scars, Papule, Myeloid leukemia, Skin ulcer, Skin vesicle ORPHA:48104
Dermatitis Herpetiformis
Microcytic anemia, Macule, Erythema, Skin vesicle ORPHA:1656
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Cleft palate, Hand oligodactyly, Glossoptosis, Abnormality of the dentit... ORPHA:3104
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Follicular hyperkeratosis... OMIM:613102
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Skin ulcer ORPHA:217390
Iga Pemphigus
Annular cutaneous lesion, Skin erosion, Eosinophilia, Skin plaque, Cutaneous abscess, Skin vesicle ORPHA:555905
Pemphigus Foliaceus
Acantholysis, Erythematous plaque, Annular cutaneous lesion, Erythema, Skin erosion, Abnormal ora... ORPHA:79481
Catel-Manzke Syndrome
Highly arched eyebrow, Cleft palate, Short stature, Abnormality of epiphysis morphology, Failure ... ORPHA:1388
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Lichen Planus Pemphigoides
Hyperkeratosis, Abnormal oral mucosa morphology, Skin vesicle ORPHA:254478
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Papule, Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:257
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle ORPHA:158681
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Abnormal hair morphology, Dystrophic fingernails, Craniosynostosis, Delayed eruptio... ORPHA:2314
Dyskeratosis Congenita
Carious teeth, Short stature, Palmoplantar keratoderma, Periodontitis, Sparse hair, Skin ulcer, A... ORPHA:1775
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Skin nodule, Erythematous plaque, Pyod... ORPHA:3243
Hennekam-Beemer Syndrome
Thick lower lip vermilion, High palate, Macule, Short stature, Failure to thrive, Erythema, Papul... ORPHA:2135
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Leukocyte Adhesion Deficiency Type Ii
Broad eyebrow, Broad palm, Premature loss of teeth, Intrauterine growth retardation, Low anterior... ORPHA:99843
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Orofaciodigital Syndrome Vi
Toe syndactyly, Cleft palate, High palate, Short stature, Postaxial polydactyly, Cleft upper lip,... OMIM:277170
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Weight loss, Cleft palate, Microglossia ORPHA:141152
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Ulnar deviation of finger, Furrowed tongue, Truncal obesity, Camptodactyly of fing... ORPHA:2928
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... OMIM:615513
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Neonatal death, Microglossia, Fibular hypoplasia, Short 5th finger, Hy... OMIM:227270
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Porphyria Variegata
Anemia, Skin erosion, Milia, Localized skin lesion, Skin vesicle ORPHA:79473
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Low anterior hairline, Tapered finger, Short stature, Glossoptos... ORPHA:3201
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Hepato... OMIM:606367
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the elbow, Nail dystrophy, Atrophic scars, Dermal atrophy, Abnormality of the wris... ORPHA:89843
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Orofaciodigital Syndrome Iv
Toe syndactyly, Cleft palate, High palate, Hamartoma of tongue, Postaxial polydactyly, Short fing... OMIM:258860
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Radial club hand, Microglossia, Fibular hypoplasia, Short 5th fi... ORPHA:1972
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Acantholysis, Mitten deformity, Neonatal death, Alopecia totalis, Aplasia cut... OMIM:609638
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Bilateral cleft lip and palate, Broad palm, Cleft upper lip, Abnormality of the tongue, Intestina... OMIM:601165
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Alopecia of scalp, Tongue nodules, Microglossia, Abnormal... ORPHA:530
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Ret... ORPHA:508542
Mohr Syndrome
Cleft palate, Short stature, Metaphyseal irregularity, Accessory oral frenulum, Syndactyly, Agene... OMIM:252100
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Short philtrum, Short stature, Ulnar deviation of finger, Tooth malposition, Furrowe... ORPHA:1387
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, High palate, Talipes equinovarus, Long philtrum, Ulnar deviation of... OMIM:277720
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Epiphyseal stippling OMIM:614876
Cleidocranial Dysplasia
Carious teeth, Cleft palate, Short stature, Dystrophic toenail, Abnormal dental enamel morphology... ORPHA:1452
Epilepsy, Progressive Myoclonic, 9
Short thumb, Microglossia OMIM:616540
Odontoonychodermal Dysplasia
Fine hair, Plantar hyperkeratosis, Hypodontia, Dry hair, Dystrophic fingernails, Dystrophic toena... OMIM:257980
Otospondylomegaepiphyseal Dysplasia
Disproportionate short stature, Tibial bowing, Fibular bowing, Cleft palate, Abnormally ossified ... ORPHA:1427
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia ORPHA:293978
Rhizomelic Syndrome, Urbach Type
Cleft palate, Triphalangeal thumb, High palate, Abnormality of the elbow, Short stature, Abnormal... ORPHA:3098
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Tongue atrophy, Talipes equinovarus ORPHA:496689
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ps... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Cronkhite-Canada Syndrome
Cachexia, Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Tapered finger, Stomach ca... ORPHA:2930
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Psoriasiform lesion, Decreased proportion of CD3-positive T cells, Hepatosplenomegal... ORPHA:169154
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Petechiae, Recurrent cutaneous abscess for... OMIM:619374
Pachyonychia Congenita 3
Epidermoid cyst, Chapped lip, Nail dystrophy, Palmoplantar keratoderma, Furrowed tongue, Gingivit... OMIM:615726
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Broad palm, Exaggerated median tongue furrow, Tapered finger, Short st... OMIM:300431
Clark-Baraitser syndrome
Thick lower lip vermilion, Broad palm, Exaggerated median tongue furrow, Tapered finger, Maxillar... OMIM:300602
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Gingival overgrowth, Furrowed tongue, Generalized hirsutism, Everted lower lip vermilion, Thick v... ORPHA:966
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Carious teeth, Hypodontia, Skin fissure, Alopecia, Erythema, Palmoplantar keratoderma, Abnormalit... ORPHA:659
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Abnormal de... OMIM:601559
Ritscher-Schinzel Syndrome 2
Short philtrum, Growth delay, Protruding tongue, Syndactyly, Broad hallux, Short distal phalanx o... OMIM:300963
Hereditary Acrokeratotic Poikiloderma
Short stature, Dystrophic toenail, Finger syndactyly, Camptodactyly of finger, Palmoplantar hyper... ORPHA:2907
Hartnup Disorder
Glossitis, Short stature OMIM:234500
Seckel Syndrome 2
Growth delay, Microdontia, Small for gestational age, Short stature, Microglossia, Few cafe-au-la... OMIM:606744
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cleft palate, Talipes equinovarus, Hamartoma of tongue, Short stature, Femoral bowi... OMIM:613091
Cohen Syndrome
Short stature, Cubitus valgus, Aplasia/Hypoplasia of the tongue, Finger syndactyly, Tooth agenesi... ORPHA:193
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... OMIM:260660
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormal metacarpal morphology, Glossoptosis, Long philtrum ORPHA:166100
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Postaxial foot polydactyly, Postaxial hand poly... OMIM:174300
Catel-Manzke Syndrome
Cleft palate, High palate, Intrauterine growth retardation, Talipes equinovarus, Cleft upper lip,... OMIM:616145
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Glossoptosis, Femoral bowin... ORPHA:440354
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Small epiphyses, Abnormally ossified vertebrae, Aplasia/hypoplasia involving bones... ORPHA:93346
Marshall-Smith Syndrome
Failure to thrive, Bowing of the long bones, Craniosynostosis, Gingival overgrowth, Thin skin, Re... ORPHA:561
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the ulna, Cleft palate, High palate, Microdontia, Short stature... ORPHA:1307
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Orofaciodigital Syndrome Xv
Lobulated tongue, Broad hallux, Postaxial polydactyly OMIM:617127
Congenital Disorder Of Glycosylation, Type Iia
Diastema, Hirsutism, Wide mouth, Short stature, Failure to thrive, Long eyelashes, Proximal place... OMIM:212066
Mcdonough Syndrome
Short philtrum, Short stature, Synophrys, Furrowed tongue, Radial deviation of finger, Dental mal... OMIM:248950
Mulibrey Nanism
Hypodontia, Intrauterine growth retardation, Growth delay, Short stature, Thickened cortex of lon... OMIM:253250
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... ORPHA:2442
Orofaciodigital Syndrome Type 1
Odontogenic neoplasm, Cleft palate, Hamartoma of tongue, Brittle hair, Accessory oral frenulum, A... ORPHA:2750
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Cleft palate, Glossoptosis, Short mandibular rami, Narrow mouth, Dent... OMIM:614669
Tarp Syndrome
Cleft palate, High palate, Intrauterine growth retardation, Talipes equinovarus, Postaxial polyda... OMIM:311900
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Cleft palate, Adducted thumb, Talipes equinovarus, Short stature, Furrowed... OMIM:615065
Lelis Syndrome
Carious teeth, Hypodontia, Absent lower eyelashes, Yellow nails, Nail dystrophy, Sparse lateral e... ORPHA:140936
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Failure to thrive, Cleft palate, Hyperextensibility of the finger joints, Glossoptosis OMIM:618356
Moebius Syndrome
Abnormality of the ulna, Cleft palate, High palate, Microdontia, Talipes equinovarus, Aplasia/Hyp... ORPHA:570
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Short stature, Unilateral alveolar cleft of maxilla, Finger sy... ORPHA:2751
Acromegaloid Facial Appearance Syndrome
Thick lower lip vermilion, Highly arched eyebrow, Abnormal lip morphology, Tapered finger, Macrog... ORPHA:965
9Q21.13 Microdeletion Syndrome
Polydactyly, Craniosynostosis, Downturned corners of mouth, Hip dysplasia, Postnatal growth retar... ORPHA:531151
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Mandibuloacral Dysplasia
Short clavicles, High palate, Alopecia, Osteolytic defects of the distal phalanges of the hand, T... ORPHA:2457
Spondyloepiphyseal Dysplasia Congenita
Upper limb undergrowth, Small epiphyses, Cleft palate, Growth delay, Short long bone, Abnormally ... ORPHA:94068
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly OMIM:616084
Chikungunya
Macule, Gingival bleeding, Petechiae, Erythema, Periostitis, Osteolysis, Skin vesicle ORPHA:324625
Hemifacial Atrophy, Progressive
Poliosis, Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion, ... OMIM:141300
Pelvis-Shoulder Dysplasia
Cleft palate, Thick anterior alveolar ridges, Talipes equinovarus, Absent proximal finger flexion... ORPHA:2839
Nijmegen Breakage Syndrome
B lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, Cafe-au-lait... OMIM:251260
Holzgreve Syndrome
Abnormality of the ulna, Cleft palate, Intrauterine growth retardation, Aplasia/Hypoplasia of the... ORPHA:2167
Carey-Fineman-Ziter Syndrome
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Tapered finger, Growth delay, Failure t... OMIM:254940
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Smooth philtrum, High palate, Diastema, Talipes equinovarus, Short stature, Failure to thrive, La... OMIM:300534
Psoriasis 14, Pustular
Geographic tongue, Nail dystrophy, Erythema, Furrowed tongue, Parakeratosis OMIM:614204
Down Syndrome
Thick lower lip vermilion, Aganglionic megacolon, Microdontia, Macroglossia, Obesity, Sandal gap,... ORPHA:870
Orofaciodigital Syndrome I
Carious teeth, Cleft palate, Short stature, Syndactyly, Milia, Sparse hair, Agenesis of permanent... OMIM:311200
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Short stature, Cheilitis, Chapped lip, Nail dystrophy, Palmoplantar keratoderma, A... ORPHA:158668
Burning Mouth Syndrome
Strawberry tongue, Parageusia, Tongue pain, Xerostomia, Abnormality of the gingiva, Burning mouth... ORPHA:353253
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Nail dystrophy, Alopecia, Malabsorption, Clubbing, Glossitis, Clubbing of f... OMIM:175500
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Finger syndactyly, Camptodactyly of finger, Toe syndactyly, Hypodontia, Ope... ORPHA:1507
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Hyperkerato... ORPHA:1839
Transient Bullous Dermolysis Of The Newborn
Atrophic scars, Milia OMIM:131705
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Cleft palate, High palate, Growth delay, Hamartoma of tongue, Short statur... ORPHA:2754
Otopalatodigital Syndrome Type 2
Cleft palate, Pierre-Robin sequence, Oligodontia, Increased bone mineral density, Camptodactyly o... ORPHA:90652
Trisomy 8Q
Bone cyst, Cleft palate, High palate, Bifid tongue, Non-midline cleft lip, Everted lower lip verm... ORPHA:1752
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... OMIM:600802
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Cleft palate, Preauricular skin tag, Impaired mastication, Glossoptos... OMIM:602483
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Carey-Fineman-Ziter Syndrome
Cleft palate, High palate, Pierre-Robin sequence, Talipes equinovarus, Long philtrum, Ulnar devia... ORPHA:1358
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Short sternum, Bifid tongue, Posta... OMIM:258850
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Atrophic scars, Skin erosion, Erosion... ORPHA:231568
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Chronic Graft Versus Host Disease
Xerostomia, Nail dystrophy, Intermittent generalized erythematous papular rash, Alopecia, Erythem... ORPHA:99921
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Long palm, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue... ORPHA:2759
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper... ORPHA:221139
Facioscapulohumeral Muscular Dystrophy 1
Scapular winging, Tongue atrophy, Shoulder girdle muscle weakness OMIM:158900
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft lip and palate, Sparse eyelashes, Alopecia of scalp, Adducted thumb, High palate,... OMIM:618874
Acrodermatitis Enteropathica
Short stature, Cheilitis, Failure to thrive, Weight loss, Alopecia, Erythema, Furrowed tongue, Ab... ORPHA:37
Lenz-Majewski Hyperostotic Dwarfism
Cutis laxa, Diaphyseal thickening, Proximal symphalangism of hands, Short stature, Humeroradial s... OMIM:151050
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Cleft palate, Intrauterine growth retardation, Thin eyebrow, Pierre-... ORPHA:364577
Robinow Syndrome, Autosomal Recessive 1
Short stature, Duplication of the distal phalanx of hand, Broad toe, Absent uvula, Thin upper lip... OMIM:268310
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Atrophic scars, Milia OMIM:131750
Developmental And Epileptic Encephalopathy 80
Smooth philtrum, Triphalangeal thumb, High palate, Talipes equinovarus, Tapered finger, Long phil... OMIM:618580
Pallister-Hall-Like Syndrome
Cleft palate, Microglossia, Hip dislocation, Postaxial hand polydactyly, Micromelia, Median cleft... OMIM:241800
Acquired Hypertrichosis Lanuginosa
Fine hair, Macroglossia, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Glossit... ORPHA:2221
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft palate, Smooth philtrum, Thin eyebrow, Pierre-Robin sequence, Oligodontia, Long upper lip, ... OMIM:608670
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cleft palate, Intrauterine growth retardation, Macroglossia, Failure to thrive, Bifid uvula, Obes... OMIM:612938
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Contractures-Developmental Delay-Pierre Robin Syndrome
Metatarsus adductus, High, narrow palate, Cleft palate, Talipes equinovarus, Arachnodactyly, Glos... ORPHA:436003
Raine Syndrome
Highly arched eyebrow, Cleft palate, High palate, Microdontia, Wide mouth, Short stature, Bowing ... OMIM:259775
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Hypodontia, Cleft palate, High palate, Adactyly, Aplasia/Hypoplasi... ORPHA:989
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Talipes equinovarus, Long philtrum, Macroglossia, Short stature, Protruding tongue, ... OMIM:141750
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Growth delay, Failure to thrive, Nail dystrophy, Alopecia, Atrophic scars, Erythema, Aplasia cuti... ORPHA:79396
Mandibulofacial Dysostosis With Alopecia
Preauricular pit, Sparse eyelashes, Cleft palate, Preauricular skin tag, Alopecia, Glossoptosis, ... OMIM:616367
Robinow Syndrome, Autosomal Dominant 3
Cleft palate, Dental malocclusion, Short stature, Long philtrum, Anteriorly placed anus, Agenesis... OMIM:616894
Down Syndrome
Broad palm, Aganglionic megacolon, Duodenal stenosis, Hypoplastic iliac wing, Macroglossia, Short... OMIM:190685
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, 2-3 toe syndactyly, Single transverse palmar crease, Nevus flammeus of the f... ORPHA:464738
Gracile Bone Dysplasia
Short stature, Failure to thrive, Decreased skull ossification, Ankyloglossia, Slender long bone,... OMIM:602361
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence, Aplasia/Hypoplasia... OMIM:192445
Cowden Syndrome
Hypopigmented skin patches, Colorectal polyposis, Bone cyst, High palate, Macule, Short stature, ... ORPHA:201
Robinow Syndrome, Autosomal Dominant 1
Short stature, Duplication of the distal phalanx of hand, Broad toe, Delayed eruption of teeth, T... OMIM:180700
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Acro-Renal-Mandibular Syndrome
High palate, Intrauterine growth retardation, Short philtrum, Hypoplastic scapulae, Aplasia/Hypop... ORPHA:958
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Autosomal Dominant Robinow Syndrome
Oligodontia, Short stature, Curly eyelashes, Finger syndactyly, Naevus flammeus of the eyelid, Ca... ORPHA:3107
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Hallermann-Streiff Syndrome
High, narrow palate, Sparse eyelashes, Alopecia, Small hand, Supernumerary tooth, Glossoptosis, A... ORPHA:2108
Pontocerebellar Hypoplasia, Type 1B
Growth delay, Hip dislocation, Tongue atrophy, Tongue fasciculations OMIM:614678
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Yunis-Varon Syndrome
Pyloric stenosis, Redundant neck skin, Sparse eyelashes, Short middle phalanx of finger, Short st... ORPHA:3472
Auriculocondylar Syndrome
Mandibular condyle aplasia, Cleft palate, Dental crowding, Periauricular skin pits, Hamartoma of ... ORPHA:137888
Kleefstra Syndrome 1
Talipes equinovarus, U-Shaped upper lip vermilion, Macroglossia, Synophrys, Obesity, Everted lowe... OMIM:610253
Tarp Syndrome
Cleft palate, Alveolar ridge overgrowth, Pierre-Robin sequence, Talipes equinovarus, Rocker botto... ORPHA:2886
Rabson-Mendenhall Syndrome
High palate, Hypertrichosis, Hirsutism, Low anterior hairline, Lichenoid skin lesion, Polydactyly... ORPHA:769
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Short stature, Failure to thrive, Weight loss, Alopecia, Malabsorptio... ORPHA:47
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia, Redundant skin ORPHA:79324
Kinsship Syndrome
Smooth philtrum, Short stature, Thin upper lip vermilion, Fibular hypoplasia, Gingival overgrowth... OMIM:619297
Marshall-Smith Syndrome
Irregular dentition, Eclabion, Short philtrum, Large sternal ossification centers, Failure to thr... OMIM:602535
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Growth delay, Large hands, Thick eyebrow, Thick vermilion border, Protruding ... ORPHA:1446
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Talipes equinovarus, Short stature, Metaphyseal widening, Bowing... ORPHA:3206
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Plummer-Vinson Syndrome
Cheilitis, Esophageal web, Narrow mouth, Glossitis, Tongue atrophy, Intra-oral hyperpigmentation,... ORPHA:54028
Short-Rib Thoracic Dysplasia 12
Broad palm, Hypoplastic nipples, Intrauterine growth retardation, Hypoplastic scapulae, Bowing of... OMIM:269860
Peroxisome Biogenesis Disorder 1A (Zellweger)
Metatarsus adductus, High, narrow palate, Redundant neck skin, High palate, Ulnar deviation of th... OMIM:214100
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Thick lower lip vermilion, Growth delay, Talipes equinovarus, Tapered finger, Macroglossia, U-Sha... OMIM:301040
Frontorhiny
Cleft palate, Preauricular skin tag, Bifid tongue, Dermoid cyst, Camptodactyly of finger, Finger ... ORPHA:391474
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... ORPHA:391487
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Anal atresia, Cleft lip, B... OMIM:616300
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Long philtrum, Abnormality of epiphysis morphology, Bowing of ... ORPHA:50945
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft lip and palate, Intestinal malrotation, Bifid tongue, Broad thumb, Clinodactyly o... ORPHA:2001
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Smooth philtrum, Protruding tongue, Open mouth OMIM:618732
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Growth delay, Mitten deformity, Nevus, Failure to thrive, Aplasia cutis congenita,... ORPHA:89842
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells OMIM:307200
Congenital Disorder Of Glycosylation, Type Iie
Smooth philtrum, Hypertrichosis, Adducted thumb, Low anterior hairline, Short stature, Intrauteri... OMIM:608779
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:572
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Bifid uvula, Short sternum, Postaxial foot polydactyly,... ORPHA:2752
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Cleft palate, Intrauterine growth retardation, 4-5 toe syndactyly, Rocker bottom foot, Tapered fi... ORPHA:488642
Distal 22Q11.2 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Smooth philtrum, Short stature, Camptodactyly of finger, Thin upp... ORPHA:261330
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Atrophic scars, Aplasia cutis congenita, Skin erosion, Milia, Oral... ORPHA:79411
Distal Monosomy 15Q
Aplasia cutis congenita over the scalp vertex, Cleft palate, Talipes equinovarus, Short stature, ... ORPHA:1596
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Cowden Syndrome 5
High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Palmoplantar hyperkeratosis, Ham... OMIM:615108
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short lingual frenulum, Short philtrum, Temporal hypotrichosis, Bifid... ORPHA:3241
Robinow Syndrome
Short stature, Syndactyly, Broad alveolar ridges, Triangular mouth, Hypodontia, Long philtrum, Ra... ORPHA:97360
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dystrophic fingernails, Erythematous plaque, Dystrophic toenail, Abnormality of the elbow, Erythe... ORPHA:158673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Talipes equinovarus, Tooth agenesis, Supernumerary nipple, Open bite, Postaxial pol... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Talipes equinovarus, Tooth agenesis, Supernumerary nipple, Open bite, Postaxial pol... ORPHA:352665
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, 2-3 toe syndactyly, Dental crowding, Exaggerated median tongue furrow ORPHA:313892
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin, Wide mouth, Low anterior hairline, Gingival overgrowth, Horizontal eyebrow, Thick eyebr... OMIM:618797
Epidermolysis Bullosa Dystrophica, Pretibial
Nail dystrophy, Hyperkeratosis OMIM:131850
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Nail dystrophy, Furrowed tongue, Oral leukoplakia, Hyperkeratosis, ... OMIM:148210
Pallister-Hall Syndrome
Cleft palate, Short stature, Neonatal death, Microglossia, Distal shortening of limbs, Syndactyly... OMIM:146510
Hypoglossia-Hypodactylia
Aglossia, Adactyly, Microglossia, Split hand, Narrow mouth OMIM:103300
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, High palate, Intrauterine growth retardation, Talipes equin... ORPHA:250989
Cowden Syndrome 6
High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Palmoplantar hyperkeratosis, Ham... OMIM:615109
Fontaine Progeroid Syndrome
Smooth philtrum, Hypoplastic nipples, Oligodontia, Short stature, Neonatal death, Dermal transluc... OMIM:612289
Hartnup Disease
Hypopigmented skin patches, Short stature, Malabsorption, Gingivitis, Glossitis ORPHA:2116
Chand Syndrome
Cleft palate, Short fifth metatarsal, Bifid tongue, Curly hair, Abnormal oral frenulum morphology... ORPHA:1401
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cleft palate, High palate, Preauricular pit, Oligodontia, Intrauterine growth retardation, Macrog... ORPHA:453499
Cowden Syndrome 1
High palate, Furrowed tongue, Colonic diverticula, Acrokeratosis, Narrow mouth, Palmoplantar hype... OMIM:158350
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Splenomegaly, Reduced natural k... OMIM:619381
Ramos-Arroyo Syndrome
Shoulder dimple, Carious teeth, Aganglionic megacolon, Long philtrum, Xerostomia, Severe short st... ORPHA:1051
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Growth delay, Mitten deformity, Nail dystrophy, Atrophic scars, Palmoplantar blist... ORPHA:79409
Congenital Sialidosis Type 2
Polydactyly, Petechiae, Gingival overgrowth, Generalized hypertrichosis, Protruding tongue ORPHA:93400
Distal Monosomy 12Q
Pyloric stenosis, 2-3 toe syndactyly, Short middle phalanx of finger, Smooth philtrum, Duodenal a... ORPHA:96149
Cerebrocostomandibular Syndrome
High palate, Long philtrum, Cleft soft palate, Congenital hip dislocation, Glossoptosis, Calcanea... OMIM:117650
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Short stature, Aplasia/Hypoplasia of the radi... ORPHA:818
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Treacher-Collins Syndrome
Cleft palate, Abnormal hair morphology, High palate, Low anterior hairline, Open bite, Preauricul... ORPHA:861
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Macroglossia, Protruding tongue OMIM:227250
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Wide mouth, Drooling, Obesity, Hypopigmentation of hair, Protruding tongue ORPHA:411511
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Angelman Syndrome
Widely spaced teeth, Wide mouth, Macroglossia, Drooling, Obesity, Protruding tongue, Fair hair OMIM:105830
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... ORPHA:79124
Hypoglossia With Situs Inversus
Hypodontia, High palate, Microglossia, Narrow mouth OMIM:612776
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Short stature, Glossoptosis ORPHA:2031
Epidermolysis Bullosa Pruriginosa
Milia OMIM:604129
Stickler Syndrome
Cachexia, Cleft palate, Open bite, Long philtrum, Abnormality of epiphysis morphology, Macrogloss... ORPHA:828
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Tongue atrophy, Talipes equinovarus, Elbow flexion contracture OMIM:617114
Hereditary Folate Malabsorption
Cheilitis, Pallor, Glossitis, Failure to thrive ORPHA:90045
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Long philtrum, Prominent eyelashes, Failure to thrive, Gingival overgrowth, Protru... OMIM:619179
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Hamartoma of tongue, Polysyndactyly of hallux, Microglossia, Postaxial polysyndacty... OMIM:263520
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Talipes equinovarus, Short stature, Slender finger, Thin upper lip vermilion, Short upper lip, Hi... OMIM:309580
Agnathia-Otocephaly Complex
Narrow mouth, Cleft palate, Microglossia, Aglossia OMIM:202650
Degcags Syndrome
Pyloric stenosis, Smooth philtrum, Talipes equinovarus, Syndactyly, Low posterior hairline, Pallo... OMIM:619488
Hutchinson-Gilford Progeria Syndrome
Dystrophic toenail, Delayed eruption of teeth, Reduced bone mineral density, Hypodontia, High pal... ORPHA:740
Agel Amyloidosis
Cutis laxa, Xerostomia, Nail dystrophy, Tongue atrophy, Dry skin, Sparse hair, Diffuse skin atrophy ORPHA:85448
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:208900
9q subtelomeric deletion syndrome
Protruding tongue, Synophrys DECIPHER:52
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Growth delay, Macroglossia, Failure to thrive, Downturned corners of mouth... ORPHA:96147
Charcot-Marie-Tooth Disease Type 4B2
Areflexia of upper limbs, Hand muscle weakness, Penetrating foot ulcers, Proximal muscle weakness... ORPHA:99956
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Short stature, Epiphyseal stippling, Microglo... OMIM:270400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad eyebrow, Smooth philtrum, High palate, Duodenal atresia, Short stature, Intrauterine growth... OMIM:616975
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Hypopigmented skin patches on arms, Autoimmune thrombocytopenia, Purpura, Lymphopeni... OMIM:607944
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Wide mouth, Drooling, Obesity, Hypopigmentation of hair, Protruding tongue ORPHA:98794
Orofaciodigital Syndrome Type 4
Genu varum, Cleft palate, Finger syndactyly, Camptodactyly of finger, Perineal fistula, Intrauter... ORPHA:2753
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss, Angular cheilitis, Glossitis, Pallor ORPHA:35858
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Hypopigmentation of hair, Protruding tongue, Wide mouth ORPHA:98795
Charcot-Marie-Tooth Disease Type 1F
Flexion contracture of finger, Hand muscle weakness, Distal upper limb amyotrophy, Proximal muscl... ORPHA:101085
Charcot-Marie-Tooth Disease Type 4C
Hammertoe, Failure to thrive, Drooling, Hip dysplasia, Tongue atrophy, Tongue fasciculations, Dif... ORPHA:99949
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Growth delay, Mitten deformity, Nail dystrophy, Atrophic scars, Aplasia cutis cong... ORPHA:79408
Fetal Encasement Syndrome
Upper limb undergrowth, Aplasia of the sweat glands, Lower limb undergrowth, Thin skin, Protrudin... OMIM:613630
Meckel Syndrome, Type 1
Cleft palate, Intrauterine growth retardation, Wide mouth, Cleft upper lip, Bowing of the long bo... OMIM:249000
Tetraamelia Syndrome 2
Ankyloglossia, Bilateral cleft lip, Glossoptosis OMIM:618021
Joubert Syndrome 1
Highly arched eyebrow, Triangular-shaped open mouth, Macroglossia, Protruding tongue, Postaxial f... OMIM:213300
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Stomatitis, Failure to thrive, Glossitis, Thin upper lip vermilion OMIM:277380
Simpson-Golabi-Behmel Syndrome, Type 1
Short nail, Short greater sciatic notch, Cleft palate, Talipes equinovarus, Broad toe, 2-3 finger... OMIM:312870
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Intrauterine growth retardation, Growth delay, Stomatitis, Failure to thrive, Gloss... ORPHA:79284
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Hand muscle atrophy, Tongue fasciculations OMIM:211530
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis OMIM:241310
Autosomal Dominant Cerebellar Ataxia
Erythema, Tongue fasciculations, Tongue atrophy, Hyperkeratosis ORPHA:99
Icf Syndrome
Macroglossia, Protruding tongue, Malabsorption, Short stature ORPHA:2268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, High palate, Short stature, Long philtrum, Macroglossia, Long eyelashes, F... ORPHA:444077
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Giant Cell Arteritis
Impaired mastication, Weight loss, Alopecia, Glossitis, Skin ulcer ORPHA:397
Hypomandibular Faciocranial Dysostosis
Cleft palate, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Bifid uvula, Narrow mouth ORPHA:1790
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Hyperpigmented nevi ORPHA:2959
Cerebrocostomandibular Syndrome
Cleft palate, Intrauterine growth retardation, Short stature, Glossoptosis, Short hard palate, Cl... ORPHA:1393
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Protruding tongue, Drooling OMIM:619580
Melkersson-Rosenthal Syndrome
Macroglossia, Furrowed tongue, Cheilitis ORPHA:2483
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations OMIM:614153
Juvenile Sialidosis Type 2
Generalized hypertrichosis, Gingival overgrowth, Protruding tongue ORPHA:93399
Angelman Syndrome
Widely spaced teeth, Wide mouth, Drooling, Obesity, Delayed menarche, Protruding tongue, Fair hair ORPHA:72
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations ORPHA:276198
Orofaciodigital Syndrome Type 14
Cleft palate, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Duplication of p... ORPHA:434179
Okamoto Syndrome
Redundant neck skin, Hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Poly... ORPHA:2729
Neuroocular Syndrome
Short stature, Brittle hair, Short uvula, Prominent fingertip pads, Tibial torsion, Highly arched... OMIM:619539
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Wide mouth, Drooling OMIM:614325
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased ... ORPHA:508533
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Absent or minimally ossified vertebral bodies, Ectopic anus, L... ORPHA:93271
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal upper limb amyotrophy, Hand muscle weakness, Upper limb amyotrophy, Congenital finger fl... ORPHA:466768
Thymic Aplasia
Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, T lymphocytopenia, Aplas... ORPHA:83471
Opitz Gbbb Syndrome
Hypodontia, Cleft palate, Preauricular pit, High palate, Ectopic anus, Long philtrum, Short statu... ORPHA:2745
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the eyebrow, Microglossia, Narrow mouth ORPHA:990
Pallister-Hall Syndrome
Polydactyly affecting the 4th finger, Cleft palate, Short stature, Broad toe, Accessory oral fren... ORPHA:672
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Smooth philtrum, Talipes equinovarus, Short uvula, Thin upper lip vermilion, Decreased body weigh... OMIM:619475
Orofaciodigital Syndrome Xiv
Cleft palate, Hamartoma of tongue, Postaxial polydactyly, Supernumerary tooth, Aplasia of the epi... OMIM:615948
Viss Syndrome
Hirsutism, Talipes equinovarus, Short stature, Submucous cleft soft palate, High palate, Rocker b... OMIM:619472
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Impaired mastication, Open mouth, Decreased body weight, Protruding tongue ORPHA:258
Meckel Syndrome
Cleft palate, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Postax... ORPHA:564
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Microphthalmia, Syndromic 6
Toe syndactyly, Short middle phalanx of finger, Single transverse palmar crease, Polydactyly, Cle... OMIM:607932
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Mitten deformity, Nail dystrophy, Alopecia, Atrophic scars, Spontaneous esophageal ... OMIM:226600
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Fraser Syndrome
Toe syndactyly, High palate, Ectopic anus, Wide pubic symphysis, Cleft upper lip, Abnormal hair p... ORPHA:2052
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Intrauterine growth retardation, Growth delay, Stomatitis, Failure to thrive, Gl... ORPHA:79282
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Abnormal tongue morphology, Thick vermilion border, P... ORPHA:653
Glucagonoma
Stomatitis, Necrolytic migratory erythema, Weight loss, Intestinal obstruction, Steatorrhea, Glos... ORPHA:97280
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Nail dystrophy, Dystrophic fingernails, Dystrophic toenail ORPHA:158676
Microsporidiosis
Glossitis, Cachexia, Weight loss, Skin nodule ORPHA:2552
Carney Complex
Hirsutism, Neoplasm of the stomach, Neoplasm of the rectum, Esophageal neoplasm, Tongue nodules, ... ORPHA:1359
Plague
Inflammation of the large intestine, Abnormality of the elbow, Chapped lip, Glossitis, Enterocoli... ORPHA:707
Kawasaki Disease
Abnormality of nail color, Palmoplantar erythema, Glossitis, Cheilitis ORPHA:2331
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Protruding tongue, Drooling ORPHA:98889
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Osteoporosis, Ankyloglossia, Supernumerary tooth OMIM:619525
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.

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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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