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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
increased leukocyte cell number Arpc2tm1a(EUCOMM)Wtsi HET Early adult 6.49×10-05
decreased body weight Arpc2tm1a(EUCOMM)Wtsi HET   Early adult 1.87×10-09
abnormal coat/hair pigmentation Arpc2tm1a(EUCOMM)Wtsi HET Early adult 2.64×10-06
increased mean corpuscular volume Arpc2tm1a(EUCOMM)Wtsi HET Early adult 5.89×10-05
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
vertebral fusion Arpc2tm1a(EUCOMM)Wtsi HET   Early adult 2.22×10-05
preweaning lethality, complete penetrance Arpc2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Melanocytic nevus, Short neck, Scoliosis, Decreased skull ossification, Thrombocytopenia,... ORPHA:3319
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Dysplasia Of Head Of Femur, Meyer Type
Delayed femoral head ossification, Lower limb pain, Limited hip movement, Congenital hip dislocat... ORPHA:168621
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Sickle Cell Anemia
Avascular necrosis, Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F... ORPHA:232
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Majeed Syndrome
Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor... OMIM:609628
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelash... OMIM:300946
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... OMIM:618849
Oslam Syndrome
Increased mean corpuscular volume, Radioulnar synostosis, Abnormality of neutrophils ORPHA:2760
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
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
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Diamond-Blackfan Anemia 6
Tracheomalacia, Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean... OMIM:612561
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Alopecia, Premature graying of hair, Lymphopenia, Nail pits, Ridged nail, Ost... OMIM:127550
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... ORPHA:2064
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Methylcobalamin Deficiency Type Cble
Pancytopenia, Failure to thrive, Scoliosis, Macrocytic anemia, Increased mean corpuscular volume,... ORPHA:2169
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure... OMIM:611590
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... OMIM:113000
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Fibrodysplasia Ossificans Progressiva
Alopecia, Anemia, Ectopic ossification in ligament tissue, Spinal rigidity, Abnormal vertebral mo... ORPHA:337
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Cafe-au-lait spot, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Spleno... OMIM:615234
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation of hair, Platyspondyly, Osteop... ORPHA:2786
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... OMIM:178110
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Osteomyelitis, Abno... ORPHA:811
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Lo... ORPHA:2345
Diamond-Blackfan Anemia 7
Scoliosis, Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteopo... OMIM:612562
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... ORPHA:71526
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae OMIM:122600
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Scoliosis, Low posterior hairline, Cervical C2/C3 vertebral... OMIM:214300
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Synophrys, Short neck, Delayed skeletal maturation, Abnormal... ORPHA:2332
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Low anterior hairline, Reticulocytopenia, Small for gestation... ORPHA:124
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ... ORPHA:86839
16Q24.3 Microdeletion Syndrome
Kyphosis, Abnormal hair pattern, Scoliosis, Increased mean corpuscular volume, Thrombocytopenia, ... ORPHA:261250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Vaginal hernia, Elbow dislocation, Hypoplastic ... ORPHA:2916
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Beta-Thalassemia Intermedia
Increased susceptibility to fractures, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosp... ORPHA:231222
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology ORPHA:1436
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... ORPHA:93315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis OMIM:606612
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge OMIM:309620
Verheij Syndrome
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae OMIM:615583
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,... OMIM:613673
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Short neck, Abnormal reticulocyte morphology ORPHA:2522
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Ventral hernia, Thoracic scoliosis, Generalized joint laxity, Cellulitis, F... OMIM:618000
Aarskog-Scott Syndrome
Camptodactyly of finger, High anterior hairline, Abnormality of the cervical spine, Inguinal hern... ORPHA:915
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Cafe-au-lait spot, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepa... ORPHA:300298
Gorlin Syndrome
Vertebral fusion, Melanocytic nevus, Vertebral wedging, Scoliosis, Hemivertebrae ORPHA:377
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Dominant Beta-Thalassemia
Genu valgum, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia Major
Genu valgum, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular... ORPHA:231214
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Multiple cafe-au-lait spots, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Lumbar hyperlordosis ORPHA:313892
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Low posterior hai... OMIM:616549
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Kniest Dysplasia
Arthropathy, Anterior vertebral fusion, Fused cervical vertebrae, Vertebral wedging, Hypoplasia o... ORPHA:485
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Osteopenia, Joint swelling, Fa... OMIM:612852
Wildervanck Syndrome
Fused cervical vertebrae, Short neck, Low posterior hairline ORPHA:3456
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Hoyeraal-Hreidarsson Syndrome
Anemia, Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Gener... ORPHA:3322
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Low posterior hairline, Cervic... OMIM:118100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Spina bifida occulta, Abnormali... OMIM:613686
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Beta-Thalassemia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Reduced bone mine... ORPHA:848
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of hair, Hemopha... ORPHA:79477
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Failure to thrive, Short ... ORPHA:98791
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Hypopigmentation of h... ORPHA:96169
Lateral Meningocele Syndrome
Vertebral fusion, Biconcave vertebral bodies, Kyphosis, Keloids, Joint hypermobility, Wormian bon... OMIM:130720
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Vertebral fusion, Hyperlordosis, C2-C3 subluxation, Capitate-hamate fusion, Bl... OMIM:272460
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Partial fusion of t... OMIM:305620
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, ... OMIM:209950
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Craniosynostosis, Synop... OMIM:213980
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia, Abnormality of the nail ORPHA:621
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Alkaptonuria
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... OMIM:203500
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Small for gestational age, Iris hypopigmentation, Fair... OMIM:610443
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... ORPHA:77297
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Acute Monoblastic/Monocytic Leukemia
Anemia, Weight loss, Lymphocytosis, Acute monocytic leukemia, Ankle swelling, Leukocytosis, Hypoc... ORPHA:514
Fibrodysplasia Ossificans Progressiva
Alopecia, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossif... OMIM:135100
Cartilage-Hair Hypoplasia
Sparse eyebrow, Anemia, Fair hair, Narrow vertebral interpedicular distance, Hypoplasia of the od... OMIM:250250
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Ataxia-Telangiectasia
Premature graying of hair, Lymphopenia, Failure to thrive, Hypopigmentation of hair, Multiple caf... ORPHA:100
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Avascular necrosis, Premature graying of hair, Pancytopenia, Failure to thrive, White... OMIM:613989
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair ORPHA:177910
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Fanconi Anemia, Complementation Group I
Cafe-au-lait spot, Decreased body weight, Fused cervical vertebrae, Short neck, Neutropenia OMIM:609053
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Generalized hirsutism ORPHA:2221
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Hypoplastic toenails, Overweight, Hypoplastic thumbnail ORPHA:370010
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Larsen Syndrome
Vertebral fusion, Accessory carpal bones, Spondylolysis, Cervical kyphosis, Hip dislocation, Shor... OMIM:150250
Aggressive Systemic Mastocytosis
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fracture, Osteol... ORPHA:98850
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Joint swelling, Panniculitis, Leukocytosis, Failure to thrive in inf... OMIM:617099
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Small for gestationa... OMIM:260400
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Chediak-Higashi Syndrome
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... OMIM:214500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Inguinal hernia, Short neck, Scoliosi... OMIM:271520
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Mosaic Trisomy 20
Vertebral fusion, Hypopigmented streaks, Kyphosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Acrodysostosis 2 With Or Without Hormone Resistance
Advanced ossification of carpal bones, Fair hair, Spinal canal stenosis, Blue irides, Red hair, O... OMIM:614613
Omenn Syndrome
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Leukocytosis, Eosinophili... ORPHA:39041
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Small for gestational age, Synophrys, Overweight, Cervical C2/C3 vertebral fusi... OMIM:617796
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Joint laxity, Congenital hip dislocation, Spondylolisthesis, Scoliosis... OMIM:229200
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Synophrys, Accelerated skeletal maturation, Long eyela... OMIM:617190
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Splenomegaly OMIM:612840
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair ORPHA:411515
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Small nail, Thoracolumbar s... OMIM:268310
Muenke Syndrome
Coronal craniosynostosis, Carpal synostosis, Hypopigmented skin patches, Hypopigmentation of hair... ORPHA:53271
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... ORPHA:90652
Chops Syndrome
Cervical C2/C3 vertebral fusion, Curly hair, Synophrys, Long eyelashes, Obesity, Coarse hair, Tra... OMIM:616368
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis ORPHA:530983
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Cafe-au-lait spot, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta, Low poste... OMIM:619227
Caudal Regression Syndrome
Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis, Joint stiffn... ORPHA:3027
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Increased susceptibility to fractures, Myeloid leukemia, Increased basoph... ORPHA:98849
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Osteopetrosis, Splenom... OMIM:618541
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... OMIM:171480
Chromosome 8Q22.1 Duplication Syndrome
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... OMIM:151200
Duane Retraction Syndrome
Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central heterochromia, Camptodactyl... ORPHA:233
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Scoliosis, Thrombocy... ORPHA:3320
Castleman Disease
Decreased mean corpuscular volume, Weight loss, Thrombocytopenia, Anemia ORPHA:160
Squalene Synthase Deficiency
Knee flexion contracture, Elbow flexion contracture, Abnormality of hair pigmentation, Failure to... OMIM:618156
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Abnormality of skin pigmentation, Coarse hair, Scarring, Bre... OMIM:308300
Kbg Syndrome
Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis, Synophrys, Short neck, Delayed skele... OMIM:148050
Myhre Syndrome
Vertebral fusion, Small for gestational age, Camptodactyly, Fine hair, Limitation of joint mobili... OMIM:139210
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Fine hair, Lymphopenia, Inguinal hernia, White hair, Reduced bone mineral density ORPHA:935
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Back pain, Decreased body weight, Leukocytosis ORPHA:51890
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F OMIM:619769
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Vertebral fusion, Small nail, Vertebral segmentation defect, Polysplenia... ORPHA:373
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Anterior concavity of thoracic vertebrae, Joint hypermobility, Persistence of hemoglobin F OMIM:617101
Oculocutaneous Albinism Type 1
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... ORPHA:352731
Psoriasis 14, Pustular
Oligoarthritis, Neutrophilia, Polyarticular arthritis, Leukocytosis, Nail dystrophy OMIM:614204
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hypopigmentation of hair ORPHA:70472
Thymoma
Weight loss, Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pu... ORPHA:99867
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Reduced p... OMIM:619172
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Aicardi Syndrome
Multiple lipomas, Abnormality of skin pigmentation, Sparse lateral eyebrow, Block vertebrae, Butt... ORPHA:50
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... ORPHA:1826
Wolf-Hirschhorn Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Small for gestational age, Hip dislocation, Radioulnar... OMIM:194190
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Basal Cell Nevus Syndrome 1
Vertebral fusion, Vertebral wedging, Kyphoscoliosis, Scoliosis, Hemivertebrae, Irregular ossifica... OMIM:109400
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Widow's peak, Camptodactyly, Inguinal hernia, Hyperextensible hand joints OMIM:227330
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Cafe-au-lait spot, Generalized hypopigmentation, Trichorr... ORPHA:84064
Ivic Syndrome
Synostosis of carpal bones, Radioulnar synostosis, Joint stiffness, Scoliosis, Leukocytosis, Thro... ORPHA:2307
Robinow Syndrome
High anterior hairline, Small nail, Radioulnar dislocation, Small for gestational age, Nail dyspl... ORPHA:97360
Eisenmenger Syndrome
Hypochromic microcytic anemia, Increased mean corpuscular volume, Brain abscess, Iron deficiency ... ORPHA:97214
Aicardi Syndrome
Sparse lateral eyebrow, Block vertebrae, Butterfly vertebrae, Lipoma, Scoliosis, Hemivertebrae, H... OMIM:304050
Brittle Cornea Syndrome
Increased susceptibility to fractures, Hernia, Abnormality of hair pigmentation, Corneal scarring... ORPHA:90354
Chédiak-Higashi Syndrome
Anemia, Hypopigmentation of the skin, Neutropenia, Iris hypopigmentation, Large clumps of pigment... ORPHA:167
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Frontometaphyseal Dysplasia 2
Hip contracture, Keloids, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Dislocated ... OMIM:617137
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Anemia, Patellar dislocation, Patellar aplasia, Fused cervical vertebrae, Hip disloca... OMIM:274000
Microphthalmia, Syndromic 3
Vertebral fusion, Butterfly vertebrae, Vertebral hypoplasia, Hemivertebrae OMIM:206900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Kyphosis, Hypochromic microcytic anemia, HbH hemoglobin, Kyph... OMIM:301040
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat... ORPHA:79430
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Limitation of movement at ankles, Iris hypopigmentation, Hypopigmen... ORPHA:98794
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Severe failure to thrive ORPHA:423479
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Coronal craniosynostosis, Fused cervical vertebrae, Inguinal hernia, Severe B ... ORPHA:83617
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Ocular albinism, Iris hypopigmentation, Limitation of joint mobility, Inguinal hernia, Hy... ORPHA:2719
Lead Poisoning
Abnormal T cell morphology, Anemia, Small for gestational age, Imbalanced hemoglobin synthesis, D... ORPHA:330015
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Hypoplastic toenails, Block vertebrae, Absence of the sacrum, Polysplenia, Failure to t... OMIM:306955
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Thoracic hemivertebrae, Fused cervical vertebra... ORPHA:508498
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion ORPHA:1780
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... ORPHA:268882
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... ORPHA:238468
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Atelosteogenesis, Type I
Vertebral hypoplasia, Fused cervical vertebrae, Elbow dislocation, Short neck, Knee dislocation, ... OMIM:108720
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair OMIM:160980
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Hypoplastic toenails, Curly hair, Synophrys, Long eyelashes, Obesity, Abnormal v... ORPHA:444077
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair ORPHA:411511
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... OMIM:157800
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... ORPHA:3214
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin, Joint stiffness ORPHA:847
Apert Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... OMIM:101200
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Menkes Disease
Hernia, Osteomyelitis, Recurrent fractures, Woolly hair, Wormian bones, Inguinal hernia, Hypopigm... ORPHA:565
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity OMIM:609734
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Failure to thrive, Hypopigmentation of hair, Osteopenia, Scoliosis,... ORPHA:398079
Vici Syndrome
Leukopenia, Hypopigmentation of the skin, T lymphocytopenia, Ocular albinism, Albinism, Lymphopen... OMIM:242840
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Arthrogryposis multiplex congenita, Hypop... ORPHA:163746
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Flexion contracture, Kyphosis, Failure to thrive, Hypopigmentation ... ORPHA:398069
Prader-Willi Syndrome
Hypopigmentation of the skin, Genu valgum, Generalized hypopigmentation, Kyphosis, Frontal upswee... OMIM:176270
Degcags Syndrome
Premature graying of hair, Synophrys, Hepatosplenomegaly, Delayed skeletal maturation, Abnormal e... OMIM:619488
Duane-Radial Ray Syndrome
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae OMIM:607323
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... ORPHA:98754
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Synophrys, Camptodactyly, Hip dislocation, Inguinal hernia,... OMIM:613458
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... ORPHA:177901
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613266
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... ORPHA:398073
Prader-Willi Syndrome
Increased susceptibility to fractures, Hypopigmentation of the skin, Failure to thrive, Hypopigme... ORPHA:739
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Narrow vertebral interpedicular distance, Accelerated skeletal maturation, Spinal cana... ORPHA:280651
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Short neck, Stella... ORPHA:177907
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Widow's peak, Hypopigmentation of hair, Joint hyperflexibility, Coarse hair ORPHA:1974
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Genu valgum, Weight loss, Retinal pigment e... OMIM:219800
Smith-Lemli-Opitz Syndrome
Kyphosis, Hip dislocation, Congenital diaphragmatic hernia, Hypopigmentation of hair, Short neck,... ORPHA:818
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Fused cervical vertebrae, Abnormal hip joint morphology, S... ORPHA:51608
Elsahy-Waters Syndrome
Synophrys, Thick eyebrow, Cervical C2/C3 vertebral fusion OMIM:211380
Craniofacial Microsomia
Genu valgum, Vertebral hypoplasia, Block vertebrae, Scoliosis, Hemivertebrae OMIM:164210

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)