Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
C-C motif chemokine ligand 21 (serine)
Synonyms:
SLC,  Exodus-2,  CKb9,  Tca4,  Gm1987,  ALP,  6Ckine,  Scya21,  6CKBAC2,  Scya21b

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 Ccl21a mutations

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

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

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

The table below shows human diseases predicted to be associated to Ccl21a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 19
Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce... OMIM:615617
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis OMIM:269840
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l... OMIM:619924
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce... OMIM:615513
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Ly... OMIM:619126
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... ORPHA:39812
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis, Abnormal pro... OMIM:212050
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... ORPHA:277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, Increased proportion of memory T ce... OMIM:618982
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of transitional B cells, B lymp... OMIM:618459
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... OMIM:618108
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Papulovesicular erupt... ORPHA:330058
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Recurre... OMIM:618986
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Hypohidrosis ORPHA:1484
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Recurrent oti... OMIM:612692
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Keratoendotheliitis Fugax Hereditaria
Keratitis, Epiphora OMIM:148200
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, T lymphocytopenia, B lymphocyt... ORPHA:217390
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... OMIM:619281
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Erythroderma, Cirrhosis, Decreased lacrimation OMIM:242150
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hypohidrosis, Recurrent skin infections, Decreased lacrimation OMIM:616488
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod... ORPHA:169154
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Immunodeficiency 70
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ... OMIM:616005
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Cockayne Syndrome Type 1
Hepatomegaly, Cryptorchidism, Uveitis, Hypohidrosis, Conjunctivitis, Anemia, Decreased lacrimation ORPHA:90321
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Absent circulating B cells OMIM:619707
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Alacrima, Congenital, Autosomal Dominant
Lacrimal gland hypoplasia, Alacrima, Decreased lacrimation OMIM:103420
Epithelial Recurrent Erosion Dystrophy
Epiphora OMIM:122400
Corneal Dystrophy, Meesmann, 2
Epiphora OMIM:618767
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Lacrimation abnormality, Hypohidrosis ORPHA:1882
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Keratosis Pilaris Atrophicans
Epiphora OMIM:604093
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality ORPHA:1562
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent ... OMIM:619705
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel... OMIM:619510
Corneal Dystrophy, Meesmann, 1
Epiphora OMIM:122100
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Portal hypertension, Cryptorchidism, Hypohidrosis, Hepatosplenomegaly, Alacrima, Decreased lacrim... OMIM:609136
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,... OMIM:301081
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis OMIM:619693
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Splenomegaly, Hypohidrosis, Decreased lacrimation ORPHA:163746
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, Rhinitis, B lymphocytopenia, Otitis media, Decreased proportion of ... ORPHA:70593
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Alacrima, Congenital, Autosomal Recessive
Alacrima OMIM:601549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Alacrima OMIM:617671
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Hypohidrosis, Decreased lacrimation OMIM:613451
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Lymphadenopathy, B lym... OMIM:618048
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope... OMIM:615607
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima OMIM:608088
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Vernal Keratoconjunctivitis
Punctate keratitis, Lacrimation abnormality ORPHA:70476
Classic Progressive Supranuclear Palsy Syndrome
Decreased lacrimation ORPHA:240071
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Alacrima OMIM:300858
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Adrenocorticotropin receptor defect, Adrenal insufficiency,... OMIM:231550
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomegaly, Micronodular cirrhosis, Mi... ORPHA:404454
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
Immunodeficiency 40
Hepatomegaly, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumo... OMIM:616433
Chondroectodermal Dysplasia With Night Blindness
Otitis media, Epiphora, Hyperhidrosis ORPHA:319195
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... OMIM:615966
Lacrimoauriculodentodigital Syndrome 2
Conjunctivitis, Alacrima OMIM:620192
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Cockayne Syndrome A
Hepatomegaly, Anhidrosis, Splenomegaly, Cryptorchidism, Thymic hormone decreased, Decreased lacri... OMIM:216400
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... ORPHA:35078
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Lacrimation abnormality ORPHA:1252
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Alacrima ORPHA:91416
Stuve-Wiedemann Syndrome 1
Hyperhidrosis, Decreased lacrimation OMIM:601559
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Thrombocytopenia, Alacrima OMIM:619005
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Epiphora, Bone marrow hypocellularity,... OMIM:613990
Cockayne Syndrome B
Hepatomegaly, Anhidrosis, Splenomegaly, Cryptorchidism, Decreased lacrimation OMIM:133540
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count... OMIM:618394
Johanson-Blizzard Syndrome
Abnormality of the pancreas, Lacrimation abnormality, Anemia, Exocrine pancreatic insufficiency ORPHA:2315
Immunodeficiency 43
Bronchiectasis, Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Lacrimoauriculodentodigital Syndrome 3
Xerostomia, Alacrima OMIM:620193
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Limbal Stem Cell Deficiency
Keratitis, Lacrimation abnormality, Epiphora ORPHA:171673
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma OMIM:610163
Cockayne Syndrome
Hepatomegaly, Anhidrosis, Splenomegaly, Cryptorchidism, Keratoconjunctivitis sicca, Malar rash, A... ORPHA:191
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... OMIM:620133
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Epiphora OMIM:616353
Lacrimal Duct Defect
Sinusitis, Conjunctivitis, Epiphora OMIM:149700
Kilquist Syndrome
Xerostomia, Alacrima OMIM:619080
Familial Dysautonomia
Abnormal peritoneum morphology, Hypohidrosis, Alacrima, Hyperhidrosis ORPHA:1764
Sunct Syndrome
Episodic hyperhidrosis, Increased tear production, Epiphora, Hyperhidrosis ORPHA:57145
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Alacrima OMIM:615560
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia, Hepatic fibrosis, Bone marrow hypocellularity, E... OMIM:224230
Focal Facial Dermal Dysplasia Type Iii
Lacrimation abnormality ORPHA:1807
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Intellectual Disability-Alacrima-Achalasia Syndrome
Alacrima ORPHA:289483
Trisomy 8P
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Decreased lacrimation ORPHA:264450
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... OMIM:300755
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Pneumonia OMIM:614069
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Alacrima, Hypohidrosis OMIM:615510
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... ORPHA:83471
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... ORPHA:293987
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis, Alacrima OMIM:223900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Esophagitis, Hepatic steatosis, Alacrima OMIM:615356
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Epiphora, Hepatic necrosis ORPHA:100093
Herpes Simplex Virus Stromal Keratitis
Keratitis, Epiphora ORPHA:137599
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunctivitis, Neutropen... OMIM:601495
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Alacrima, Hyperhidrosis OMIM:614653
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Eec Syndrome
Lacrimation abnormality, Decreased response to growth hormone stimulation test, Keratitis, Xerost... ORPHA:1896
Paroxysmal Hemicrania
Rhinitis, Epiphora ORPHA:157835
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Anhidrosis, Hyperhidrosis, Hepatic fibrosis, Alacrima OMIM:615273
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease... ORPHA:293978
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Elevated circulating luteinizing hormone level, Polycystic ovaries, Lacrimal gland ... ORPHA:572333
Branchiootorenal Syndrome 1
Gustatory lacrimation, Euthyroid goiter, Lacrimation abnormality OMIM:113650
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... ORPHA:391487
Neurotrophic Keratopathy
Anterior uveitis, Lacrimation abnormality ORPHA:137596
Schinzel-Giedion Syndrome
Streak ovary, Recurrent pneumonia, Annular pancreas, Central hypothyroidism, Hepatoblastoma, Myel... ORPHA:798
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... ORPHA:508542
Waardenburg Syndrome Type 1
Lacrimation abnormality ORPHA:894
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Alacrima OMIM:618548
Acrocraniofacial Dysostosis
Lacrimation abnormality ORPHA:949
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Epiphora ORPHA:293381
Dyskeratosis Congenita, Digenic
Epiphora, Decreased testicular size, Anemia OMIM:620040
Hyperostosis Cranialis Interna
Epiphora OMIM:144755
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Pneumonia, Skin rash, Follicular hyperplasi... OMIM:619381
Nasopalpebral Lipoma-Coloboma Syndrome
Epiphora OMIM:167730
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Hyperhidrosis, Anemia, Leukopenia, Epiphora... OMIM:305000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Iron deficiency anemia, Inflammation of the large... OMIM:301074
Gelatinous Drop-Like Corneal Dystrophy
Epiphora ORPHA:98957
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Lacrimation abnormality ORPHA:2916
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Macronodular cir... OMIM:620005
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Epiphora ORPHA:141083
Cone-Rod Dystrophy 10
Epiphora OMIM:610283
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent otitis medi... OMIM:607944
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Lacrimation abnormality, Thrombocytopenia, Cryptorchidism, Cheilitis, Arthri... ORPHA:534
Waardenburg Syndrome
Lacrimation abnormality ORPHA:3440
Cone-Rod Dystrophy 8
Epiphora OMIM:605549
Posterior Polymorphous Corneal Dystrophy
Lacrimation abnormality ORPHA:98973
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Chron... ORPHA:221139
Ataxia-Telangiectasia
Sinusitis, Bronchiectasis, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thy... OMIM:208900
Stüve-Wiedemann Syndrome
Lacrimation abnormality, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Hypothyroidism ORPHA:3206
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B... OMIM:251260
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... ORPHA:508533
Nasopalpebral Lipoma-Coloboma Syndrome
Epiphora ORPHA:2399
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:83617
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Pustule, Granuloma, Increased tear production, Infectious encephalitis, Inc... ORPHA:68
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia ORPHA:2959
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Xerostomia, Lacrimal gland hypoplasia, Conjunctivitis, Aplasia of the pa... OMIM:149730
Vici Syndrome
Chronic mucocutaneous candidiasis, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neu... OMIM:242840
Charge Syndrome
Cryptorchidism, Anterior hypopituitarism, Lacrimation abnormality ORPHA:138
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Xerostom... ORPHA:95455
Corneal Dystrophy, Posterior Polymorphous, 1
Epiphora OMIM:122000
Alg12-Cdg
Cryptorchidism, Recurrent pneumonia, B lymphocytopenia, Chronic rhinitis, Thrombocytopenia ORPHA:79324
Williams Syndrome
Lacrimation abnormality, Cryptorchidism, Polycystic ovaries, Chronic otitis media, Cholelithiasis... ORPHA:904
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Abnormal... ORPHA:2363
Persistent Hyperplastic Primary Vitreous
Epiphora ORPHA:91495

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 Ccl21a

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 Ccl21a.

No publications found that use IMPC mice or data for Ccl21a.

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