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Gene: Arpc4 MGI:1915339

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Gene Summary

Name:
actin related protein 2/3 complex, subunit 4
Synonyms:
p20-Arc,  5330419I20Rik

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
abnormal hair texture Arpc4tm1a(EUCOMM)Wtsi HET Early adult 4.14×10-05
increased leukocyte cell number Arpc4tm1a(EUCOMM)Wtsi HET Early adult 2.35×10-06
increased mean corpuscular volume Arpc4tm1a(EUCOMM)Wtsi HET Early adult 3.29×10-07
increased mean corpuscular hemoglobin Arpc4tm1a(EUCOMM)Wtsi HET Early adult 9.43×10-07

Download data as:  TSV  XLS

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Select physiological systems to view:
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% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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
Arpc4tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Arpc4tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Arpc4tm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI
Arpc4tm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI
Arpc4tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI

View all 82 images

Arpc4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Arpc4 mutations

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

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

The table below shows human diseases associated to Arpc4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental Delay, Language Impairment, And Ocular Abnormalities
OMIM:620141

The table below shows human diseases predicted to be associated to Arpc4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes OMIM:300946
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,... OMIM:127550
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... OMIM:258360
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Carvajal Syndrome
Woolly hair ORPHA:65282
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o... ORPHA:75564
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Peeling Skin Syndrome 1
Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia OMIM:270300
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic... ORPHA:124
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Increased mean corpuscular volume, Abnormal hair pattern, Thrombocytopenia ORPHA:261250
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair ORPHA:3447
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d... OMIM:613990
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, White hair, Anemia, Fine hair ORPHA:935
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail ORPHA:621
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Low posterior hairline, Sparse hair OMIM:613224
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Netherton Syndrome
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia OMIM:256500
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... OMIM:308300
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252920
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair OMIM:620075
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Trichothiodystrophy 3, Photosensitive
Brittle hair, Neutropenia, Tiger tail banding, Lymphopenia, Trichorrhexis nodosa OMIM:616395
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Thrombocytopenia OMIM:619980
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posterior hairline, Anemia, Leukop... OMIM:617303
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:612840
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Fine hair, Coarse hair, Neutropenia, Lymphopeni... OMIM:242900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Omenn Syndrome
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l... ORPHA:39041
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy... OMIM:620072
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair ORPHA:1028
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology ORPHA:3082
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia ORPHA:98791
Acrogeria
Fine hair ORPHA:2500
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T... OMIM:601675
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... ORPHA:634
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp OMIM:615280
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... OMIM:158310
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Tonne-Kalscheuer Syndrome
Fine hair, Small nail, Concave nail OMIM:300978
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Brittle hair, Abnormality of hair texture OMIM:219200
Noonan Syndrome 5
Sparse eyebrow, Curly hair, Small nail, Fine hair OMIM:611553
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Smith-Kingsmore Syndrome
Curly hair, Thrombocytopenia OMIM:616638
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Macrocephaly/Autism Syndrome
Splenomegaly, Coarse hair, Lymphopenia OMIM:605309
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... ORPHA:3353
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Synophrys, Low anterior hairline, Fine hair ORPHA:391408
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Leopard Syndrome 2
Curly hair OMIM:611554
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair ORPHA:2107
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Anemia, Nail dystrophy, Nail dysplasia, Sparse hair, Thromb... OMIM:612199
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Thick eyebrow, Fine hair OMIM:614800
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Noonan Syndrome 4
Sparse eyebrow, Curly hair, High anterior hairline, Thrombocytopenia OMIM:610733
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Lymphopenia OMIM:619745
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... ORPHA:217346
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... ORPHA:84064
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair, Fine hair, S... OMIM:222470
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Eisenmenger Syndrome
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... ORPHA:97214
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Lysinuric Protein Intolerance
Splenomegaly, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Sparse hair, Thrombocytopenia OMIM:222700
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture, Megaloblastic anemia ORPHA:79351
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Increased mean corpuscula... ORPHA:33364
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Chops Syndrome
Curly hair, Thick hair, Splenomegaly, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Concave nail, Hypoplastic toenails, Abnormal hair... ORPHA:3071
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten... OMIM:603903
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Fine hair OMIM:620250
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Multiple Sulfatase Deficiency
Splenomegaly, Coarse hair, Thick eyebrow ORPHA:585
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair, Thrombocytopenia OMIM:612394
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Noonan Syndrome 8
Curly hair OMIM:615355
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Aplasia/Hypoplasia of the eyebrow, Anemia, Fine hair ORPHA:2637
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Dubowitz Syndrome
Sparse scalp hair, Abnormal fingernail morphology, Abnormality of neutrophils, Hypoplastic toenai... ORPHA:235
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline OMIM:617360
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair OMIM:614091
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ... ORPHA:1340
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Trichohepatoneurodevelopmental Syndrome
Curly hair, Splenomegaly, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hai... OMIM:618268
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Splenomegaly, Synophrys, Coarse hair, Facial hirsutism, Hirsutism OMIM:252940
Trisomy 20P
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... ORPHA:261318
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... OMIM:115150
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair OMIM:608612
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... ORPHA:2710
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... ORPHA:2108
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair ORPHA:1812
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Acrofacial Dysostosis, Catania Type
Coarse hair, Abnormal hair pattern ORPHA:1786
Koolen-De Vries Syndrome
Fair hair, Abnormality of hair texture OMIM:610443
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... OMIM:617506
Mucopolysaccharidosis, Type Vii
Splenomegaly, Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Hepatosplenomegaly, Low po... OMIM:613563
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Hypoplasia of the thymus, N... ORPHA:1896
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... OMIM:304110
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair ORPHA:261349
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Noonan Syndrome 2
Sparse eyebrow, Curly hair, Leukemia, Low posterior hairline OMIM:605275
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Cranioectodermal Dysplasia 3
Sparse hair, Short nail, Broad nail, Fine hair OMIM:614099
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Anemia, Abnormality of hair texture ORPHA:667
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Weaver Syndrome
Sparse hair, Thin nail, Deep-set nails, Fine hair OMIM:277590
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:234100
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ... OMIM:601358
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Mucolipidosis Type Ii
Dry hair, Splenomegaly, White hair, Fine hair, Hepatosplenomegaly ORPHA:576
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Mucopolysaccharidosis Type 3
Thick hair, Splenomegaly, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism ORPHA:581
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair OMIM:607721
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior hairline, Coarse hair, Gene... ORPHA:955
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Fine hair, Acute lymphoblastic leukemia, Hypoplastic nipples, Sparse hair,... OMIM:280000
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Noonan Syndrome
Abnormal hair quantity, Abnormality of the spleen, Coarse hair, Low posterior hairline ORPHA:648
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis OMIM:602535
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... OMIM:181270
Chime Syndrome
Sparse hair, Fine hair, Acute leukemia ORPHA:3474
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia ORPHA:920
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Splenomegaly, Brittle hair, Sparse hair OMIM:252500
Cerebellar-Facial-Dental Syndrome
Sparse hair, Sparse eyebrow, Fine hair ORPHA:444072
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... ORPHA:444077
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Noonan Syndrome 10
Sparse eyebrow, Curly hair OMIM:616564
Ogden Syndrome
Sparse eyebrow, Fine hair, Iron deficiency anemia, Long eyelashes, Polycythemia, Thrombocytopenia OMIM:300855
Orofaciodigital Syndrome Type 1
Sparse hair, Alopecia, Coarse hair, Brittle hair ORPHA:2750
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th... OMIM:619950
Cockayne Syndrome B
Sparse hair, Splenomegaly, Dry hair, Abnormal hair morphology OMIM:133540
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair OMIM:218330
Oculocerebrorenal Syndrome Of Lowe
Anemia, Sparse scalp hair, Thrombocytopenia, Fine hair ORPHA:534
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
Fontaine Progeroid Syndrome
Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars... OMIM:612289
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Cockayne Syndrome Type 3
Premature graying of hair, Splenomegaly, Dry hair ORPHA:90324
Cockayne Syndrome A
Sparse hair, Splenomegaly, Dry hair OMIM:216400
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Hemolytic anemia, Sparse scalp hair, Thick eyebrow, Curly hair, Sy... OMIM:619503
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture ORPHA:73223
Liver Disease, Severe Congenital
Dry hair, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Nail dystrophy, Anemia OMIM:619991
Chand Syndrome
Curly hair, Nail dysplasia ORPHA:1401
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Cockayne Syndrome
Splenomegaly, Dry hair, Fine hair ORPHA:191
Distal Deletion 12Q
Small nail, Fine hair ORPHA:96149
Myhre Syndrome
Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Noonan Syndrome 1
Woolly hair, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Low posterior ha... OMIM:163950
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,... OMIM:135900
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... OMIM:305600
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails OMIM:218040
Occipital Horn Syndrome
Coarse hair, Pili torti OMIM:304150
Melnick-Needles Syndrome
Coarse hair, Frontal hirsutism OMIM:309350
Zttk Syndrome
Sparse eyebrow, Curly hair, Broad eyebrow OMIM:617140
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:210710
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... OMIM:619539
Coffin-Lowry Syndrome
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow OMIM:303600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails OMIM:613406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Curly hair, Broad lateral eyebrow ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Vascular Ehlers-Danlos Syndrome
Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... ORPHA:286
Alström Syndrome
Frontal balding, Splenomegaly, Fine hair, Hepatosplenomegaly, Hirsutism ORPHA:64
Developmental Delay, Language Impairment, And Ocular Abnormalities
OMIM:620141

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 Arpc4

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 Arpc4.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Epithelial colonization by gut dendritic cells promotes their functional diversification. Immunity (December 2021) Arpc4tm1a(EUCOMM)Wtsi PMC8751639
Endothelial cell invasion is controlled by dactylopodia. Proceedings of the National Academy of Sciences of the United States of America (May 2021) Arpc4tm1c(EUCOMM)Wtsi PMC8106348
mTORC1 and mTORC2 Converge on the Arp2/3 Complex to Promote KrasG12D-Induced Acinar-to-Ductal Metaplasia and Early Pancreatic Carcinogenesis. Gastroenterology (January 2021) Arpc4tm1c(EUCOMM)Wtsi 33388318
Active cell migration is critical for steady-state epithelial turnover in the gut. Science (New York, N.Y.) (August 2019) Arpc4tm1c(EUCOMM)Wtsi Arpc4tm1a(EUCOMM)Wtsi 31416964
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arpc4tm1a(EUCOMM)Wtsi PMC6459510
Knockout of the Arp2/3 complex in epidermis causes a psoriasis-like disease hallmarked by hyperactivation of transcription factor Nrf2. Development (Cambridge, England) (November 2017) Arpc4tm1c(EUCOMM)Wtsi Arpc4tm1a(EUCOMM)Wtsi 29113991

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Arpc4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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