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Gene: Arpc2 MGI:1923959

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Gene Summary

Name:
actin related protein 2/3 complex, subunit 2
Synonyms:
p34-Arc,  2210023N03Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Arpc2tm1a(EUCOMM)Wtsi HET Early adult 3.62×10-07
increased mean corpuscular hemoglobin Arpc2tm1a(EUCOMM)Wtsi HET   Early adult 1.97×10-05
increased mean corpuscular volume Arpc2tm1a(EUCOMM)Wtsi HET Early adult 5.89×10-05
increased leukocyte cell number Arpc2tm1a(EUCOMM)Wtsi HET Early adult 6.49×10-05
abnormal coat/hair pigmentation Arpc2tm1a(EUCOMM)Wtsi HET Early adult 2.64×10-06
preweaning lethality, complete penetrance Arpc2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased body weight Arpc2tm1a(EUCOMM)Wtsi HET   Early adult 1.87×10-09
vertebral fusion Arpc2tm1a(EUCOMM)Wtsi HET   Early adult 2.22×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (4 of 4)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (4 of 4)
Bone N/A heterozygote 75% (3 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (2 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (4 of 4)
Gall bladder N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote 100% (4 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote 100% (4 of 4)
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 100% (4 of 4)
Mammary gland N/A heterozygote 50% (2 of 4)
Esophagus N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 100% (4 of 4)
Parathyroid gland N/A heterozygote 100% (4 of 4)
Peripheral nervous system N/A heterozygote 100% (4 of 4)
Peyer's patch N/A heterozygote 100% (4 of 4)
Pituitary gland N/A heterozygote 75% (3 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 75% (3 of 4)
Spleen N/A heterozygote 100% (4 of 4)
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 100% (4 of 4)
Thyroid gland N/A heterozygote 100% (4 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Arpc2tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Arpc2tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Arpc2tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Arpc2tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Arpc2tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 327 images

Arpc2tm1a(EUCOMM)Wtsi
brain, WT, Male, WTSI
Arpc2tm1a(EUCOMM)Wtsi
brain, WT, Male, WTSI
Arpc2tm1a(EUCOMM)Wtsi
brain, WT, Male, WTSI
Arpc2tm1a(EUCOMM)Wtsi
brain, WT, Male, WTSI
Arpc2tm1a(EUCOMM)Wtsi
brain, WT, Male, WTSI

View all 17 images

Arpc2tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Arpc2tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Arpc2tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Arpc2tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Arpc2tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI

View all 6 images

Arpc2tm1a(EUCOMM)Wtsi
abnormal hair follicle bulge morphology, HET, Female, WTSI
Arpc2tm1a(EUCOMM)Wtsi
abnormal hair follicle bulge morphology, HET, Female, WTSI

Human diseases caused by Arpc2 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 Arpc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Melanocytic nevus, Decreased ... ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossification, Limited hip mov... ORPHA:168621
Majeed Syndrome
Erythroid hyperplasia, Failure to thrive, Osteomyelitis, Hepatosplenomegaly, Microcytic anemia, F... OMIM:609628
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume, Radioulnar synostosis ORPHA:2760
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Cafe-au-lai... OMIM:615234
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin OMIM:614072
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobi... OMIM:612561
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Osteoporosi... ORPHA:2169
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... OMIM:618469
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... OMIM:611590
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Brachydactyly, Type B1
Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Hypoplastic sacrum, Hypoplastic f... OMIM:113000
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... OMIM:613686
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... OMIM:178110
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation o... ORPHA:2786
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Abnormal vertebra... ORPHA:337
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... OMIM:618963
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia, Scol... OMIM:612562
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain OMIM:122600
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Delayed skeletal matur... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Delayed skeletal matur... ORPHA:71526
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Kbg Syndrome
Vertebral fusion, Abnormal hair pattern, Thoracic kyphosis, Thick eyebrow, Delayed skeletal matur... ORPHA:2332
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Low posterior hairline, Short neck, Sc... OMIM:214300
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Increased mean corpuscular volume, Abnormal hair pattern, Kyphosis, Thromb... ORPHA:261250
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Low posterior hairline, Abnormal form of the vertebral bodies, A... ORPHA:2916
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Bone pa... ORPHA:86839
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:606612
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Increased susceptibility to fractures, Osteoporosis, Persist... ORPHA:231222
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, Vertebral fusion, Verte... ORPHA:93315
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Hip dislocation, Short neck, Scoliosis OMIM:615583
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Keratoconus Posticus Circumscriptus
Short neck, Abnormal vertebral segmentation and fusion, Limited elbow extension and supination OMIM:244600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Fused cervical vertebrae, Kyphosis, Hyperlordosis, Short neck ORPHA:2522
Aarskog-Scott Syndrome
Abnormal vertebral segmentation and fusion, Inguinal hernia, Abnormality of the cervical spine, G... ORPHA:915
Gorlin Syndrome
Vertebral fusion, Hemivertebrae, Vertebral wedging, Melanocytic nevus, Scoliosis ORPHA:377
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Kbg Syndrome
Vertebral fusion, Low anterior hairline, Vertebral arch anomaly, Thoracic kyphosis, Thick eyebrow... OMIM:148050
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypochromic microcytic anemia, Hyperpigmentation of the skin, Osteo... ORPHA:231226
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Multiple cafe-au-lait spots ORPHA:1445
Beta-Thalassemia Major
Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic anemia, Hyperpigmentati... ORPHA:231214
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Scoliosis, Lumbar hyperlordosis ORPHA:313892
Cartilage-Hair Hypoplasia
Fine hair, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Sparse ... OMIM:250250
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decre... OMIM:618278
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Sclerosis of skull base, Coarse hair, Wormian bones... OMIM:130720
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:312150
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Acetabular dysplasia, Low posterior hairlin... OMIM:616549
Kniest Dysplasia
Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia, Abnormal joint morphology, Del... ORPHA:485
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Low posterior hairli... OMIM:118100
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Spinal canal stenosis, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Enamel... OMIM:263540
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Throm... ORPHA:848
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:253290
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Failure to thrive, Freckling, Fused cervical vertebrae, Carpal synostosis, Del... OMIM:157800
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... OMIM:193510
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:607155
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Abscess, Osteomyelitis, Osteopenia, Neutrophilia, Splenomegaly, Fus... OMIM:612852
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Sho... ORPHA:98791
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... ORPHA:33445
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Griscelli Syndrome Type 2
Partial albinism, Neutropenia, Splenomegaly, Iris hypopigmentation, Pancytopenia, Hypopigmentatio... ORPHA:79477
Wildervanck Syndrome
Low posterior hairline, Short neck, Fused cervical vertebrae ORPHA:3456
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Abnormal dental enamel morphology, Kyphosis, Abnormal... ORPHA:96169
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Progressive cervi... OMIM:135100
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Hirsutism, Partial fusion of... OMIM:305620
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Salmonella osteomyelitis, Anemia, Splenomegaly, Hepato... OMIM:209950
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Hypoplasia of the odontoid process, Abnormality of retinal pigmentation, Verte... OMIM:272460
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nail dystrophy OMIM:609057
Majeed Syndrome
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Synovitis, Failure to thrive, Congenital h... ORPHA:77297
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Failure to thrive, Nail dystrophy, Premature graying of hair, Anem... ORPHA:3322
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Ankle swelling, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monoc... ORPHA:514
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... OMIM:203500
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Koolen-De Vries Syndrome
Vertebral fusion, Small for gestational age, Failure to thrive, Kyphosis, Joint hypermobility, Hi... OMIM:610443
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density, Bone pain ORPHA:37748
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature ... ORPHA:100
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Polyarticular arthritis, Monocytosis, Neutrophilia OMIM:619281
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Fanconi Anemia, Complementation Group I
Neutropenia, Fused cervical vertebrae, Decreased body weight, Short neck, Cafe-au-lait spot OMIM:609053
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... ORPHA:3109
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Hypoplastic toenails, Hypoplastic thumbnail, Cervical C2/C3 vertebral fusion, Overweight ORPHA:370010
Acquired Hypertrichosis Lanuginosa
Fine hair, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Osteoporosis, Anemia, Abnorma... ORPHA:98850
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Neutropenia, Small for gestational age, Failure to t... OMIM:260400
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis,... OMIM:271520
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Spinal canal stenosis, Accelerated skeletal maturation, Obesity, Fair hair, Red hair OMIM:614613
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Ocular albinism, Silver-gray hair, Abnormal dense granules, Giant neutro... OMIM:214500
Multiple Pterygium Syndrome, Escobar Variant
Dysplastic patella, Popliteal pterygium, Intercrural pterygium, Patellar aplasia, Neck pterygia, ... OMIM:265000
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Pannicu... OMIM:617099
Cinca Syndrome
Leukocytosis, Patellar overgrowth, Anemia, Arthritis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Mosaic Trisomy 20
Limited pronation/supination of forearm, Spinal canal stenosis, Vertebral fusion, Hypopigmented s... ORPHA:1724
Omenn Syndrome
Leukocytosis, Failure to thrive, Abnormal lymphocyte morphology, Anemia, Alopecia, Splenomegaly, ... ORPHA:39041
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Brittle Cornea Syndrome 1
Red hair, Congenital hip dislocation, Spondylolisthesis, Atypical scarring of skin, Dentinogenesi... OMIM:229200
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Red hair OMIM:609734
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Omphalocele, Failure to thrive, Abnormal vertebral segmentation and fusion, Sy... ORPHA:90652
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis,... ORPHA:824
Muenke Syndrome
Tarsal synostosis, Hypopigmented skin patches, Carpal synostosis, Coronal craniosynostosis, Hypop... ORPHA:53271
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail, Small for gestational age ORPHA:621
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Caudal Regression Sequence
Abnormal vertebral segmentation and fusion, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebr... ORPHA:3027
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Incontinentia Pigmenti
Atrophic, patchy alopecia, Leukocytosis, Fine hair, Scarring, Hypoplastic nipples, Hemivertebrae,... OMIM:308300
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Duane Retraction Syndrome
Hypopigmented skin patches, Patchy hypopigmentation of hair, Abnormal vertebral segmentation and ... ORPHA:233
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Vertebral hypoplasia OMIM:206900
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Thoracolumbar scoliosis, Long eyelashes, Inguinal hernia, Nail dysplasia, Hypop... OMIM:268310
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Hypertrichosis, Fused cervical vertebrae, Low posterior hairline, Spina bifi... OMIM:619227
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Anterior vertebral fusion, Elbow dislocation, Radioulnar synost... OMIM:171480
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Fused cervical vertebrae, Hip dislocation, Patella... ORPHA:3320
Myhre Syndrome
Fine hair, Vertebral fusion, Small for gestational age, Platyspondyly, Enlarged vertebral pedicle... OMIM:139210
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Failure to thrive in infancy, Knee flexion contracture, Elbow f... OMIM:618156
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair, Anemia, Reduced bone mineral density, Lymphopenia, Inguinal hernia ORPHA:935
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Weight loss, Anemia ORPHA:160
Anterior Cutaneous Nerve Entrapment Syndrome
Leukocytosis, Decreased body weight, Inguinal hernia, Back pain ORPHA:51890
Simpson-Golabi-Behmel Syndrome
Omphalocele, Small nail, Vertebral fusion, Congenital diaphragmatic hernia, Congenital hip disloc... ORPHA:373
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Psoriasis 14, Pustular
Leukocytosis, Polyarticular arthritis, Oligoarthritis, Nail dystrophy, Neutrophilia OMIM:614204
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Obesity, Short neck, HbH hemog... OMIM:141750
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Weight loss, Pure red cell aplasia, Rheumatoid arthrit... ORPHA:99867
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Genu varum, Patellar aplasia, Anemia, Fused cervical vertebrae, Hip dislocation, He... OMIM:274000
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Ocular albinism, Iris transillumination defect, Albinism, Melano... OMIM:619172
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hypopigmentation of hair ORPHA:70472
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Aicardi Syndrome
Abnormality of retinal pigmentation, Butterfly vertebrae, Abnormality of skin pigmentation, Spars... ORPHA:50
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Weight loss, Anemia ORPHA:2070
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Vertebral fusion, Hemivertebrae, Vertebral wedging, Kyphosc... OMIM:109400
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... ORPHA:79434
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Hyperextensible hand joints, Camptodactyly, Widow's peak, Inguinal hernia OMIM:227330
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Generalized hypopigmentation, Small for gestation... ORPHA:84064
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Keloids, Limitation of movement at ankles, Sclerosis... ORPHA:1826
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Vertebral fusion, Small for gestational age, Failure to thrive, Abnormal s... OMIM:194190
Ivic Syndrome
Leukocytosis, Synostosis of carpal bones, Joint stiffness, Thrombocytopenia, Scoliosis, Radioulna... ORPHA:2307
Aicardi Syndrome
Butterfly vertebrae, Hemivertebrae, Sparse lateral eyebrow, Lipoma, Hiatus hernia, Block vertebra... OMIM:304050
Robinow Syndrome
Small nail, Hemivertebrae, Small for gestational age, Kyphoscoliosis, Radioulnar dislocation, Nai... ORPHA:97360
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Brain abscess, Hypochromic microcytic ... ORPHA:97214
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Hemivertebrae, Kyphoscoliosis,... OMIM:301040
Brittle Cornea Syndrome
Corneal scarring, Increased susceptibility to fractures, Osteoporosis, Hernia, Abnormality of hai... ORPHA:90354
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Abnormal natural killer cell mo... ORPHA:167
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae ORPHA:94095
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Failure to thrive, Coarse hair, Fused cervical vertebrae, Cleft vertebral arch... ORPHA:83617
Waardenburg Syndrome
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... ORPHA:3440
Hermansky-Pudlak Syndrome
Partial albinism, Neutropenia, Ocular albinism, Weight loss, Abnormal dental enamel morphology, L... ORPHA:79430
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypertrichosis, Generalized joint laxity, Fused cervical vertebrae, Hip dislocation, Cervical hem... ORPHA:508498
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Anemia, Iris hypopigmentation, Limitation of joint mobility, Hypopigmentation of... ORPHA:2719
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Short neck, Cervical C2/C3 vertebral fusion, Hemivertebrae ORPHA:1780
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... ORPHA:268882
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hypopigmentation of the skin, Iris hypopigmentation, Obesity, H... ORPHA:98794
Atelosteogenesis, Type I
Knee dislocation, Coronal cleft vertebrae, Fused cervical vertebrae, Vertebral hypoplasia, Thorac... OMIM:108720
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... OMIM:203100
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Ir... ORPHA:238468
Frontometaphyseal Dysplasia 2
Hirsutism, Hip contracture, Low anterior hairline, Dislocated radial head, Congenital hip disloca... OMIM:617137
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Flexion contracture, Joint stiffness ORPHA:847
Prader-Willi Syndrome
Failure to thrive in infancy, Osteoporosis, Hypopigmentation of the skin, Kyphosis, Genu valgum, ... OMIM:176270
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age, Anemia, D... ORPHA:330015
Vici Syndrome
Ocular albinism, Failure to thrive, Albinism, Hypopigmentation of the skin, Decreased proportion ... OMIM:242840
Menkes Disease
Tarsal synostosis, Chondrocalcinosis, Hypopigmentation of hair, Osteoporosis, Wormian bones, Hern... ORPHA:565
Angelman Syndrome Due To A Point Mutation
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411511
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Abnormal vertebral morphology, Abnormal fingernail morphology, Cervical C2... ORPHA:444077
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... ORPHA:3214
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Arthrogryposis multiplex congenita, Abnormal eyebrow morphology, Sple... ORPHA:163746
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Kyphosis, Osteopenia, Abdominal ob... ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome
Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteopenia, Abdominal obesity, Obe... ORPHA:398079
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Degcags Syndrome
Hepatosplenomegaly, Delayed skeletal maturation, Pancytopenia, Low posterior hairline, Abnormal e... OMIM:619488
Craniofacial Microsomia
Vertebral hypoplasia, Hemivertebrae, Block vertebrae OMIM:164210
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98795
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Synostosis of carpal bones, Coronal craniosynostosis, Delayed cr... OMIM:101200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... ORPHA:98754
Pyomyositis
Leukocytosis, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... ORPHA:177904
Duane-Radial Ray Syndrome
Spina bifida occulta, Scoliosis, Fused cervical vertebrae OMIM:607323
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... ORPHA:177901
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... OMIM:613266
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Prader-Willi-Like Syndrome
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... ORPHA:398073
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Spinal canal stenosis, Accelerated skeletal maturation, Hypoplastic vertebral bodies... ORPHA:280651
Prader-Willi Syndrome
Failure to thrive, Increased susceptibility to fractures, Osteoporosis, Hypopigmentation of the s... ORPHA:739
Cystinosis, Nephropathic
Failure to thrive in infancy, Rickets, Retinal pigment epithelial mottling, Hypopigmentation of t... OMIM:219800
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Widow's peak, Hypopigmentation of hair, Joint hyperflexibility ORPHA:1974
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of the skin, Iris hypopigmentation... ORPHA:177907
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Abnormal dental enamel mo... ORPHA:818
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Failure to thrive in infancy, Abnormal hip joint morp... ORPHA:51608

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 Arpc2

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 Arpc2.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arpc2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arpc2tm1a(EUCOMM)Wtsi