Gene Summary

Name:
family with sequence similarity 83, member G
Synonyms:
wly,  2310040C09Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Fam83gtm1a(EUCOMM)Wtsi HOM   Early adult 6.37×10-06
decreased bone mineral density Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 4.43×10-05
decreased hemoglobin content Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 7.33×10-05
decreased circulating triglyceride level Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 1.68×10-05
increased erythrocyte cell number Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 8.16×10-11
increased startle reflex Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 3.32×10-05
increased hematocrit Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 8.41×10-07
decreased mean corpuscular hemoglobin concentration Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 2.07×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fam83g 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 Fam83g by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig... ORPHA:79414
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Naxos Disease
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair ORPHA:34217
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Carvajal Syndrome
Woolly hair ORPHA:65282
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Hypermanganesemia With Dystonia 1
Dystonia, Steppage gait, Polycythemia, Tremor OMIM:613280
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis OMIM:612126
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:237800
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Ataxia ORPHA:33574
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... ORPHA:163654
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Abcd Syndrome
Polycythemia OMIM:600501
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair OMIM:615280
Noonan Syndrome 6
Low posterior hairline, Long eyebrows, Sparse hair, Curly hair OMIM:613224
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Leopard Syndrome 2
Curly hair OMIM:611554
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine... ORPHA:848
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Curly hair OMIM:611553
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Broad-based gait, Increased HbA2 hemoglobin, Increased bone mineral den... OMIM:616943
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Fine hair, Brittle hair ORPHA:1573
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Leopard Syndrome 3
Low posterior hairline, Curly hair OMIM:613707
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Difficulty walking, Splenomegaly, Action tremor, Gait disturbance, Truncal ataxia, ... ORPHA:309854
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Poems Syndrome
Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Splenomega... ORPHA:2905
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... OMIM:601214
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:224100
Noonan Syndrome 8
Curly hair OMIM:615355
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis, Ataxia OMIM:300653
Noonan Syndrome 7
Low posterior hairline, Curly hair OMIM:613706
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelofibrosis ORPHA:729
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low posterior hairline, Highly arched eyebrow, Thick eyebrow, Curly hair OMIM:617360
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... OMIM:234050
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair ORPHA:90368
Chops Syndrome
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys OMIM:616368
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Curly hair OMIM:610733
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Persistence of hemoglobin F, Limb ataxia, Joint hypermobility, Truncal ataxia OMIM:617101
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Noonan Syndrome 14
Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair OMIM:619745
Livedoid Vasculopathy
Anemia, Pancytopenia, Leukocytosis, Polycythemia ORPHA:542643
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... OMIM:235700
Spherocytosis, Type 4
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:612653
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Oculodentodigital Dysplasia
Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha... ORPHA:2710
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Joint hypermobility, Gait disturbance, Thrombocytope... ORPHA:870
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Trichohepatoenteric Syndrome 1
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Brittle hair, Woolly hair OMIM:222470
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... OMIM:618268
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair OMIM:614602
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior... OMIM:617506
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Cardiofaciocutaneous Syndrome 1
Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, Curly hair, Sparse hair OMIM:115150
Sitosterolemia 1
Stomatocytosis, Giant platelets, Xanthelasma, Reticulocytosis, Splenomegaly, Hypercholesterolemia... OMIM:210250
Craniofrontonasal Syndrome
Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypoplasia, Curly hair,... OMIM:304110
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Spherocytosis, Type 1
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:182900
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Nail dystrophy OMIM:601957
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Sparse scalp ... OMIM:167210
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Craniofrontonasal Dysplasia
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak ORPHA:1520
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Dec... OMIM:266200
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Long eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:607721
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Fumarase Deficiency
Polycythemia OMIM:606812
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... ORPHA:2963
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Weaver Syndrome
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails ORPHA:3447
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Noonan Syndrome 10
Sparse eyebrow, Curly hair OMIM:616564
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin ORPHA:98791
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails OMIM:615821
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes, Thick ey... ORPHA:444077
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Harderoporphyria
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:618892
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... OMIM:300953
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Flexion contracture, Exaggerated startle response OMIM:609541
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Long eyelashes, Thick eyebrow... OMIM:619950
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia, Reticulocytosis OMIM:232800
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Anemia, A... OMIM:260400
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Widow's peak, Fine hair OMIM:615828
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Long eyelashes, Fine hair, High anterior hairline ORPHA:231137
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair ORPHA:1028
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b... OMIM:194380
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... OMIM:257980
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Multiple joint contractures, Exaggerated startle response ORPHA:320406
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Ogden Syndrome
Iron deficiency anemia, Polycythemia, Thrombocytopenia, Torticollis OMIM:300855
Noonan Syndrome 2
Low posterior hairline, Sparse eyebrow, Curly hair OMIM:605275
Netherton Syndrome
Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse eyelashes, Spar... ORPHA:634
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Acrogeria
Fine hair ORPHA:2500
Hereditary Elliptocytosis
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... ORPHA:288
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... OMIM:225060
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Tremor, Schistocytosis, Thrombocytopenia OMIM:274150
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow ORPHA:3082
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... OMIM:601675
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Trichodermodysplasia-Dental Alterations Syndrome
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... ORPHA:3353
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Hyperlipidemia, Reticulocytosis, Schistocytosis, Thrombocytopenia OMIM:235400
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Jo... OMIM:617052
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Sparse scalp hair, Brittle hair OMIM:256500
Zttk Syndrome
Broad eyebrow, Sparse eyebrow, Curly hair OMIM:617140
Costello Syndrome
Curly hair, Concave nail, Thin nail, Deep-set nails, Sparse hair, Fragile nails OMIM:218040
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys OMIM:617412
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Leukodystrophy, Hypomyelinating, 13
Ataxia, Joint contracture, Exaggerated startle response OMIM:616881
Tonne-Kalscheuer Syndrome
Small nail, Fine hair, Concave nail OMIM:300978
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Coarse hair, Brittle hair OMIM:219200
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell a... ORPHA:99867
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebro... OMIM:619503
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response OMIM:618056
Mucopolysaccharidosis, Type Iiic
Hirsutism, Hypertrichosis, Coarse hair, Synophrys OMIM:252930
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Sp... OMIM:620519
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair OMIM:605676
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Osteomyelitis, Leuk... ORPHA:2968
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Brittle hair ORPHA:93947
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Joint contracture, Exaggerated startle response OMIM:617864
Jaberi-Elahi Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Sparse hair, Fine hair, Low anterior hairline ORPHA:391408
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair OMIM:619244
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas... ORPHA:217346
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... ORPHA:35173
Tay-Sachs Disease
Laryngeal dystonia, Inability to walk, Limited elbow extension, Tremor, Dysmetria, Limited knee e... ORPHA:845
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair OMIM:190351
Abetalipoproteinemia
Osteopenia, Broad-based gait, Hypocholesterolemia, Acanthocytosis, Reticulocytosis, Dysmetria, Ga... ORPHA:14
Lead Poisoning
Anemia, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Fetal Hydantoin Syndrome
Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Broad lateral eyebrow, Curly hair ORPHA:500150
Beckwith-Wiedemann Syndrome
Splenomegaly, Polycythemia ORPHA:116
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair OMIM:616395
Costello Syndrome
Abnormal hair morphology, Abnormal fingernail morphology, Hypoplastic toenails, Deep-set nails, C... ORPHA:3071
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158310
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Joint stiffness, Flexion contracture, Abnormal hemoglobin ORPHA:847
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Joint hypermobility, Exaggerated startle response, Fl... OMIM:617301
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... OMIM:190350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Long eyelashes, Fine hair, Synophrys OMIM:620250
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen... OMIM:305100
Sandhoff Disease
Ataxia, Hepatosplenomegaly, Exaggerated startle response OMIM:268800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Coarse hair, Low anterior hairline ORPHA:2095
Telangiectasia, Hereditary Hemorrhagic, Type 2
Anemia, Polycythemia OMIM:600376
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S... ORPHA:1071
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys ORPHA:1394
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Normochromic anemia ORPHA:91500
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair OMIM:250250
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys OMIM:617303
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Ataxia, Exaggerated startle response OMIM:620451
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Cardiofaciocutaneous Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Low posterior hairline,... ORPHA:1340
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Telangiectasia, Hereditary Hemorrhagic, Type 1
Anemia, Polycythemia OMIM:187300
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Trisomy 20P
Highly arched eyebrow, Coarse hair, Thick eyebrow, Low anterior hairline, Low posterior hairline,... ORPHA:261318
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm... ORPHA:79277
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Thrombocytopenia, Exaggerated startle response OMIM:620423
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernumerary nipple ORPHA:1812
Revesz Syndrome
Ridged fingernail, Fine hair, Nail dystrophy, Sparse hair, Nail pits OMIM:268130
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia OMIM:613990
Alkaptonuria
Joint stiffness, Reduced bone mineral density, Increased susceptibility to fractures, Methemoglob... ORPHA:56
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow ORPHA:585
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Koolen-De Vries Syndrome
Abnormality of hair texture, Fair hair OMIM:610443
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Ridged nail, Tiger tail banding, Alopecia of scalp, Concave nail... ORPHA:33364
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair OMIM:242900
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Fine hair, Sparse eyelashes OMIM:257850
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Brittle hair OMIM:207900
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Diamond-Blackfan Anemia 21
Coarse hair, Horizontal eyebrow, Widow's peak, Synophrys OMIM:620072
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
2P15P16.1 Microdeletion Syndrome
Long eyelashes, Sparse eyebrow, Fine hair, Supernumerary nipple ORPHA:261349
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Cranioectodermal Dysplasia 3
Short nail, Sparse hair, Fine hair, Broad nail OMIM:614099
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Contractures of the large joints, Exaggerated startle response, Hyperextensibility of t... ORPHA:521426
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Mucopolysaccharidosis, Type Iiid
Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys OMIM:252940
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Broad-based gait, Inability to walk, Joint hypermobility, Exaggerated startle respons... ORPHA:438213
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia ORPHA:90038
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Oculodentodigital Dysplasia
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails OMIM:164200
Bcard Syndrome
Nail dysplasia, Coarse hair OMIM:612394
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Weaver Syndrome
Fine hair, Sparse hair, Thin nail, Deep-set nails OMIM:277590
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Fine hair, Brittle hair OMIM:618891
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Brittle hair, Hypopigmentation of hair, Woolly hair ORPHA:84064
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Nicolaides-Baraitser Syndrome
Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste... OMIM:601358
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Slow-growing hair, Nail pits ORPHA:1896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Exaggerated startle response OMIM:253800
Hallermann-Streiff Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair OMIM:234100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response OMIM:617527
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Dubowitz Syndrome
Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Low ante... ORPHA:235
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Ablepharon Macrostomia Syndrome
Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Sparse hair ORPHA:920
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... OMIM:181270
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Fine hair ORPHA:444072
Mucopolysaccharidosis Type 3
Coarse hair, Hirsutism, Generalized hirsutism, Thick hair, Synophrys ORPHA:581
Marshall-Smith Syndrome
Highly arched eyebrow, Hypertrichosis, Thick eyebrow, Brittle hair, Sparse hair, Synophrys OMIM:602535
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... ORPHA:447
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Low posterior hairline, Highly arched eyebrow, Sparse hair, Fine hair OMIM:613563
Mucolipidosis Type Ii
Fine hair, Dry hair, White hair ORPHA:576
Hajdu-Cheney Syndrome
Coarse hair, Abnormal fingernail morphology, Thick eyebrow, Low anterior hairline, Generalized hi... ORPHA:955
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Sparse hair, Brittle hair OMIM:252500
Orofaciodigital Syndrome Type 1
Alopecia, Sparse hair, Coarse hair, Brittle hair ORPHA:2750
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair OMIM:614748
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Hypoplastic nipples, Sparse hair OMIM:280000
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair OMIM:218330
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Fontaine Progeroid Syndrome
Absent nipple, Coarse hair, Small nail, Hypertrichosis, Low anterior hairline, Low posterior hair... OMIM:612289
Cockayne Syndrome B
Abnormal hair morphology, Sparse hair, Dry hair OMIM:133540
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands, Synophrys ORPHA:73223
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair ORPHA:90324
Myhre Syndrome
Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Cockayne Syndrome A
Sparse hair, Dry hair OMIM:216400
Noonan Syndrome
Low posterior hairline, Coarse hair, Abnormal hair quantity ORPHA:648
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Hypoplastic fifth fingernail, Th... OMIM:135900
Distal Deletion 12Q
Small nail, Fine hair ORPHA:96149
Focal Dermal Hypoplasia
Supernumerary nipple, Ridged nail, Absent toenail, Nail dystrophy, Nail dysplasia, Patchy alopeci... OMIM:305600
Occipital Horn Syndrome
Pili torti, Coarse hair OMIM:304150
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair OMIM:309350
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Cockayne Syndrome
Dry hair, Fine hair ORPHA:191
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Fine hair ORPHA:534
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Renpenning Syndrome 1
Sparse hair, Sparse lateral eyebrow, Brittle hair OMIM:309500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair OMIM:210710
Neuroocular Syndrome 1
Highly arched eyebrow, Small nail, Long eyelashes, Thick eyebrow, Distichiasis, Brittle hair, Syn... OMIM:619539
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Coffin-Lowry Syndrome
Hyperconvex fingernails, Highly arched eyebrow, Coarse hair, Thick eyebrow OMIM:303600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Witteveen-Kolk Syndrome
High anterior hairline, Fine hair, Medial flaring of the eyebrow, Hyperconvex nail, Fragile nails OMIM:613406
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair ORPHA:83617
Noonan Syndrome 1
Low posterior hairline, Woolly hair OMIM:163950
Liver Disease, Severe Congenital
Dry hair, Nail dystrophy OMIM:619991
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Joint hypermobility OMIM:619522
Vascular Ehlers-Danlos Syndrome
Abnormality of hair texture, Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eye... ORPHA:286
Alström Syndrome
Frontal balding, Fine hair, Hirsutism 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 Fam83g

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 Fam83g.

No publications found that use IMPC mice or data for Fam83g.

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
Fam83gtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fam83gtm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fam83gtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fam83gtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam83gtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter