Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
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
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

Download data as:  TSV  XLS

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

Associated Images

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

Legacy Phenotype Associated Images

View all 82 images

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.

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

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
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
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
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... ORPHA:2891
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
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
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Neutropenia, Curly eyelashes, Sparse pubic hair, Trichorrhexis nodosa, Curly... OMIM:258360
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Copper Deficiency, Familial Benign
Early balding, Curly hair, Anemia OMIM:121270
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas... ORPHA:2228
Carvajal Syndrome
Woolly hair ORPHA:65282
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... ORPHA:1433
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Dwarfism, Familial, With Muscle Spasms
Fine hair, Sparse scalp hair, Brittle scalp hair OMIM:600771
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Bazex-Dupré-Christol Syndrome
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... ORPHA:113
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair OMIM:129490
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... ORPHA:86839
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nail dystrophy OMIM:609057
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Abnormality of hair texture OMIM:270300
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... ORPHA:1882
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume, Abnormal hair pattern, Highly arched eyebrow ORPHA:261250
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Brittle hair, Coarse hair OMIM:616390
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:602400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... OMIM:225060
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail OMIM:262020
Trichohepatoenteric Syndrome 2
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi OMIM:614602
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Sparse scalp hair, Brittle hair, Pili torti ORPHA:1573
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Cartilage-Hair Hypoplasia
Fine hair, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Sparse ... OMIM:250250
Trichothiodystrophy 4, Nonphotosensitive
Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na... OMIM:234050
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys ORPHA:1021
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Bazex Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Pachyonychia Congenita 2
Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar... OMIM:167210
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Hypotrichosis Simplex Of The Scalp
Fine hair, Sparse scalp hair, Alopecia of scalp, Slow-growing scalp hair ORPHA:90368
Netherton Syndrome
Brittle hair, Sparse scalp hair, Hypereosinophilia, Brittle scalp hair, Sparse and thin eyebrow OMIM:256500
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Sparse hair ORPHA:1883
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Fine hair, Neutropenia, Coarse hair, Anemia, Lymphopenia, Thrombocyto... OMIM:242900
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Dyskeratosis Congenita, Autosomal Dominant 3
Fine hair, Leukopenia, Alopecia, Nail dysplasia, Pancytopenia, Thrombocytopenia, Aplastic anemia,... OMIM:613990
Craniofrontonasal Dysplasia
Abnormality of hair texture, Woolly hair, Ridged fingernail, Low posterior hairline, Widow's peak ORPHA:1520
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Weaver Syndrome
Fine hair, Thin nail, Deep-set nails, Hypoplastic toenails, Abnormal fingernail morphology ORPHA:3447
Mucopolysaccharidosis, Type Iiia
Synophrys, Coarse hair, Hirsutism, Splenomegaly OMIM:252900
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair OMIM:616395
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Odontoonychodermal Dysplasia
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Sparse scalp h... OMIM:257980
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair, Anemia, Lymphopenia ORPHA:935
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali... ORPHA:2963
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Low posterior hairline, Sparse hair, Long eyebrows OMIM:613224
Incontinentia Pigmenti
Atrophic, patchy alopecia, Leukocytosis, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail... OMIM:308300
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia ORPHA:98827
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Brittle hair, Sideroblastic ane... OMIM:616084
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Trichothiodystrophy 1, Photosensitive
Fine hair, Tiger tail banding, Small nail, Brittle hair, Nail dystrophy, Trichorrhexis nodosa, Ab... OMIM:601675
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... OMIM:211370
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Brittle hair, Tiger tail banding OMIM:616943
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Hirsutism, Leukopenia, Low anterior hairline, Low posterior hairline, Coarse hair, A... OMIM:617303
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism, Splenomegaly OMIM:252920
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Pili canaliculi, Uncombable hair OMIM:191482
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, Long eyelashes, High anterior hairline ORPHA:231137
Revesz Syndrome
Fine hair, Sparse hair, Nail dystrophy, Ridged fingernail, Aplastic anemia, Nail pits OMIM:268130
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair OMIM:615821
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair ORPHA:1839
Trichothiodystrophy 5, Nonphotosensitive
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding OMIM:300953
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair OMIM:248010
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Alopecia, Coarse hair ORPHA:75389
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Alopecia, Splenomegaly, Aplasia/Hypoplasia ... ORPHA:39041
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Microcytic anemia ORPHA:98791
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Coarse hair, Synophrys OMIM:616351
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Curly eyelashes, Curly hair, Nail dysplasia, Thick eyebrow, Low poste... ORPHA:163654
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology, Uncombable hair ORPHA:3082
Acrogeria
Fine hair ORPHA:2500
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Mucopolysaccharidosis, Type Iiid
Hirsutism, Coarse hair, Splenomegaly, Thick eyebrow, Synophrys OMIM:252940
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal fingernail morphology, Onycholysis, Hypoplastic toenails ORPHA:1028
Mucoepithelial Dysplasia, Hereditary
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia, Eosinophilia OMIM:158310
Mucopolysaccharidosis, Type Iiic
Synophrys, Coarse hair, Hirsutism, Splenomegaly OMIM:252930
Adult Syndrome
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... ORPHA:978
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
2Q32Q33 Microdeletion Syndrome
Fine hair, Sparse hair ORPHA:251019
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Coarse hair, Abnormality of hair texture OMIM:219200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Thick eyebrow OMIM:614800
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Netherton Syndrome
Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, S... ORPHA:634
Distal Trisomy 6P
Fine hair, Abnormal eyelash morphology, Abnormal hair quantity ORPHA:1745
Smith-Kingsmore Syndrome
Thrombocytopenia, Curly hair OMIM:616638
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture OMIM:608612
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail ORPHA:621
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Brittle hair, Long eyelashes, Thick eyebrow, Synophrys OMIM:617412
Noonan Syndrome 5
Fine hair, Curly hair, Small nail, Sparse eyebrow OMIM:611553
Spinocerebellar Ataxia With Dysmorphism
Coarse hair OMIM:271270
Tonne-Kalscheuer Syndrome
Fine hair, Small nail OMIM:300978
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Hall-Riggs Syndrome
Slow-growing hair, Coarse hair, Thick hair ORPHA:2107
Trichodermodysplasia-Dental Alterations Syndrome
Fine hair, Sparse lateral eyebrow, Brittle hair, Sparse or absent eyelashes, Sparse scalp hair, A... ORPHA:3353
Rapp-Hodgkin Syndrome
Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Onychogryposis, Sp... OMIM:129400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Sparse hair OMIM:616817
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Anemia ORPHA:160
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Sparse hair, Low anterior hairline, Synophrys ORPHA:391408
Leopard Syndrome 2
Curly hair OMIM:611554
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Trichorhinophalangeal Syndrome, Type I
Fine hair, Thin eyebrow, Sparse lateral eyebrow, Thin nail, Slow-growing hair, Leukonychia, Conca... OMIM:190350
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Brittle hair, Trichorrh... ORPHA:84064
Trichohepatoenteric Syndrome 1
Fine hair, Thrombocytosis, Increased mean platelet volume, Brittle hair, Trichorrhexis nodosa, Cu... OMIM:222470
19Q13.11 Microdeletion Syndrome
Fine hair, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Super... ORPHA:217346
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Noonan Syndrome 4
High anterior hairline, Thrombocytopenia, Curly hair, Sparse eyebrow OMIM:610733
Psoriasis 14, Pustular
Leukocytosis, Nail dystrophy, Neutrophilia OMIM:614204
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Popov-Chang syndrome
Coarse hair, Lymphopenia OMIM:618428
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alopecia of scalp,... ORPHA:35173
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Brain abscess, Hypochromic microcytic ... ORPHA:97214
Leopard Syndrome 3
Low posterior hairline, Curly hair OMIM:613707
Fetal Hydantoin Syndrome
Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Trichothiodystrophy
Tiger tail banding, Neutropenia, Dystrophic fingernails, Split nail, Alopecia of scalp, Ridged na... ORPHA:33364
Lysinuric Protein Intolerance
Fine hair, Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Sparse hair, Hemophagocytosis OMIM:222700
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Trichohepatoneurodevelopmental Syndrome
Hypoplastic nipples, Hypertrichosis, Coarse hair, Splenomegaly, Curly hair, Woolly hair, Synophrys OMIM:618268
Naxos Disease
Onycholysis, Nail dystrophy, Curly hair, Woolly hair, Sparse and thin eyebrow, Sparse body hair OMIM:601214
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Nail dystrophy, Brittle hair, Dry hair ORPHA:93947
Costello Syndrome
Hypoplastic toenails, Abnormal hair morphology, Deep-set nails, Woolly hair, Concave nail, Abnorm... ORPHA:3071
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Abnormality of hair texture ORPHA:79351
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Supernumerary ... OMIM:141750
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair OMIM:617360
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow, Splenomegaly ORPHA:585
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Aplasia/Hypoplasia of the eyebrow, Anemia ORPHA:2637
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Sparse hair OMIM:614438
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Abnormal fingernail morphology, Sparse hair ORPHA:1806
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Noonan Syndrome 8
Curly hair OMIM:615355
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Noonan Syndrome 7
Low posterior hairline, Curly hair OMIM:613706
Intellectual Disability, Buenos-Aires Type
Fine hair, Abnormal fingernail morphology, Hyperconvex thumb nails ORPHA:3079
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Nail dysplasia OMIM:614091
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Cerebrofaciothoracic Dysplasia
Coarse hair, Abnormal hair pattern, Thick eyebrow, Low posterior hairline, Synophrys ORPHA:1394
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Generalized hirsutism, Low anterior hairline ORPHA:2095
Dubowitz Syndrome
Fine hair, Acute lymphoblastic leukemia, Low anterior hairline, Sparse lateral eyebrow, Abnormal ... ORPHA:235
Sickle Cell Anemia
Leukocytosis, Hemolytic anemia, Increased red cell sickling tendency, Splenomegaly OMIM:603903
Trisomy 20P
Highly arched eyebrow, Low anterior hairline, Coarse hair, Thick hair, Thick eyebrow, Low posteri... ORPHA:261318
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Dystrophic fingernails, Dystrophic toenail, Coarse hair, Hyperconvex fingernail... ORPHA:1071
Cardiofaciocutaneous Syndrome
Fine hair, Dystrophic fingernails, Brittle hair, Sparse or absent eyelashes, Slow-growing hair, L... ORPHA:1340
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Coarse hair, Hirsutism, Splenomegaly OMIM:253220
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Absent eyelashes, Splenomegaly, Curly hair, Slow-growing hair, Low posterior hair... OMIM:115150
Hallermann-Streiff Syndrome
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Sparse hair, Sp... ORPHA:2108
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow OMIM:618810
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyelashes, Hypoplastic nipples, Brittle h... OMIM:305100
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Sparse hair OMIM:118650
Oculodentodigital Dysplasia
Fine hair, Brittle hair, Curly hair, Abnormality of the nail, Slow-growing hair, Abnormal fingern... ORPHA:2710
Eec Syndrome
Fine hair, Hypoplasia of the thymus, Coarse hair, Nail dystrophy, Thick eyebrow, Slow-growing hai... ORPHA:1896
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple ORPHA:1812
Acrofacial Dysostosis, Catania Type
Coarse hair, Abnormal hair pattern ORPHA:1786
Noonan Syndrome 2
Leukemia, Low posterior hairline, Curly hair, Sparse eyebrow OMIM:605275
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Scalp-Ear-Nipple Syndrome
Fine hair, Abnormal hair morphology, Nail dysplasia, Abnormality of the nail, Breast aplasia, Spa... OMIM:181270
Cranioectodermal Dysplasia 3
Fine hair, Broad nail, Short nail, Sparse hair OMIM:614099
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Fine hair, Acute lymphoblastic leukemia, Sparse hair, Hypoplastic nipples OMIM:280000
Koolen-De Vries Syndrome
Fair hair, Abnormality of hair texture OMIM:610443
2P15P16.1 Microdeletion Syndrome
Fine hair, Sparse and thin eyebrow, Long eyelashes, Supernumerary nipple ORPHA:261349
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair OMIM:612394
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Sparse lateral eyebrow, Coarse hair, Curly hair, Slow-growing hair, High a... OMIM:617506
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Oculodentodigital Dysplasia
Fine hair, Dry hair, Fragile nails, Slow-growing hair, Sparse hair OMIM:164200
Craniolenticulosutural Dysplasia
Brittle hair, Sparse hair, Coarse hair ORPHA:50814
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Oculodentodigital Dysplasia, Autosomal Recessive
Fine hair, Sparse eyelashes OMIM:257850
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Fine hair, Sparse hair ORPHA:251028
Argininosuccinic Aciduria
Brittle hair, Dry hair, Trichorrhexis nodosa OMIM:207900
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Weaver Syndrome
Deep-set nails, Thin nail, Sparse hair, Fine hair OMIM:277590
Hereditary Chronic Pancreatitis
Leukocytosis ORPHA:676
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Fine hair, Sparse hair, Juvenile myelomonocytic leukemia OMIM:613563
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Anemia, Splenomegaly ORPHA:667
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Brittle hair, Sparse hair OMIM:618891
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Genitopatellar Syndrome
Fine hair, Sparse scalp hair ORPHA:85201
Mucolipidosis Type Ii
Fine hair, Dry hair, White hair, Splenomegaly, Hepatosplenomegaly ORPHA:576
Ogden Syndrome
Fine hair, Sparse and thin eyebrow, Long eyelashes OMIM:300855
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Hallermann-Streiff Syndrome
Fine hair, Sparse eyelashes, Sparse scalp hair, Sparse and thin eyebrow, Sparse hair OMIM:234100
Mucopolysaccharidosis Type 3
Hirsutism, Coarse hair, Splenomegaly, Thick hair, Generalized hirsutism, Synophrys ORPHA:581
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Long eyelashes, Curly hair, Sparse scalp hair, Sparse hair OMIM:607721
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Hajdu-Cheney Syndrome
Low anterior hairline, Coarse hair, Splenomegaly, Thick eyebrow, Generalized hirsutism, Abnormal ... ORPHA:955
Noonan Syndrome
Abnormality of the spleen, Low posterior hairline, Coarse hair, Abnormal hair quantity ORPHA:648
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Opitz-Kaveggia Syndrome
Fine hair, Sparse hair, Frontal upsweep of hair OMIM:305450
Chime Syndrome
Fine hair, Sparse hair, Acute leukemia ORPHA:3474
Adrenomyeloneuropathy
Fine hair, Frontal balding ORPHA:139399
Focal Dermal Hypoplasia
Hypoplastic nipples, Absent toenail, Brittle hair, Nail dystrophy, Abnormality of hair texture, N... OMIM:305600
Cerebellar-Facial-Dental Syndrome
Fine hair, Sparse hair, Sparse eyebrow ORPHA:444072
Ablepharon Macrostomia Syndrome
Fine hair, Sparse hair, Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Breast hypoplasia ORPHA:920
Sener Syndrome
Coarse hair OMIM:606156
Noonan Syndrome 10
Curly hair, Sparse eyebrow OMIM:616564
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Long eyelashes, Curly hair, Abnormal toenail morphology, Thick hair, Thick... ORPHA:444077
Cranioectodermal Dysplasia 1
Fine hair, Short nail, Thin nail, Slow-growing hair, Sparse hair OMIM:218330
Cockayne Syndrome B
Sparse hair, Abnormal hair morphology, Dry hair, Splenomegaly OMIM:133540
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565
Orofaciodigital Syndrome Type 1
Brittle hair, Sparse hair, Coarse hair, Alopecia ORPHA:2750
Craniolenticulosutural Dysplasia
Brittle hair, Sparse hair, Coarse hair OMIM:607812
Cockayne Syndrome A
Sparse hair, Dry hair, Splenomegaly OMIM:216400
Fontaine Progeroid Syndrome
Small nail, Hypertrichosis, Hypoplastic nipples, Low anterior hairline, Low posterior hairline, C... OMIM:612289
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair, Splenomegaly ORPHA:90324
Oculocerebrorenal Syndrome Of Lowe
Fine hair, Thrombocytopenia, Anemia, Sparse scalp hair ORPHA:534
Woodhouse-Sakati Syndrome
Fine hair, Sparse hair, Alopecia OMIM:241080
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Fine hair, Sparse eyelashes, Onycholysis, Nail dystrophy, Sparse scalp hair, Sparse and thin eyebrow OMIM:614748
Chand Syndrome
Curly hair, Nail dysplasia ORPHA:1401
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Severe B lymphocytopenia, Coarse hair ORPHA:83617
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Hypoplastic sweat glands, Thick eyebrow, Synophrys ORPHA:73223
Cockayne Syndrome
Fine hair, Dry hair, Splenomegaly ORPHA:191
Distal Monosomy 12Q
Fine hair, Small nail ORPHA:96149
Myhre Syndrome
Fine hair, Sparse hair, Thick eyebrow OMIM:139210
Coffin-Siris Syndrome 1
Hypertrichosis, Dry hair, Lumbosacral hirsutism, Hypoplastic fifth fingernail, Facial hypertricho... OMIM:135900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hirsutism, Thoracic hypertrichosis, Long eyelashes, Horizontal eyebrow, Medial flaring of the eye... OMIM:619503
Zttk Syndrome
Broad eyebrow, Curly hair, Sparse eyebrow OMIM:617140
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair OMIM:309350
Costello Syndrome
Thin nail, Deep-set nails, Curly hair, Fragile nails, Concave nail, Sparse hair OMIM:218040
Witteveen-Kolk Syndrome
Fine hair, Medial flaring of the eyebrow, High anterior hairline OMIM:613406
Coffin-Lowry Syndrome
Highly arched eyebrow, Abnormal hair morphology, Coarse hair, Hyperconvex fingernails, Thick eyebrow OMIM:303600
Occipital Horn Syndrome
Coarse hair OMIM:304150
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Renpenning Syndrome 1
Sparse lateral eyebrow, Brittle hair, Sparse hair OMIM:309500
Neuroocular Syndrome
Highly arched eyebrow, Small nail, Brittle hair, Long eyelashes, Distichiasis, Thick eyebrow, Syn... OMIM:619539
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Broad lateral eyebrow, Curly hair, Sparse eyebrow ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Hypertrichosis, Hypoplastic nipples ORPHA:480880
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia, Abnormal eyelash morphology, Abnormality of hair tex... ORPHA:286
Alström Syndrome
Fine hair, Hirsutism, Frontal balding, Splenomegaly, Hepatosplenomegaly ORPHA:64

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 5 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
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