Gene Summary

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

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 circulating glycerol level Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 2.23×10-05
increased erythrocyte cell number Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 3.18×10-07
decreased mean corpuscular hemoglobin concentration Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 7.09×10-08
decreased hemoglobin content Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-06
decreased circulating alanine transaminase level Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 3.75×10-05
increased hematocrit Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 1.11×10-08
increased startle reflex Fam83gtm1a(EUCOMM)Wtsi HOM Early adult 3.32×10-05

Download data as:  TSV  XLS

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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
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
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
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy 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
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pili Torti, Early-Onset
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:261900
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Sparse and thin eyebrow, Brittle hair, Pili torti OMIM:602400
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Methemoglobinemia OMIM:250800
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Naxos Disease
Sparse scalp hair, Curly hair, Woolly hair, Abnormality of hair texture ORPHA:34217
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Dystonia, Tremor, Polycythemia, Bradykinesia, Steppage gai... OMIM:613280
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Carvajal Syndrome
Woolly hair ORPHA:65282
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hypotrichosis 6
Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Onychotrichodysplasia And Neutropenia
Short eyelashes, Curly hair, Sparse pubic hair, Concave nail, Hypoplastic fingernail, Curly eyela... OMIM:258360
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Fine hair, Abnormal fingernail m... ORPHA:248
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Glut1 Deficiency Syndrome 2
Reticulocytosis, Dystonia, Tremor, Ataxia OMIM:612126
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Splenomegaly, Anemia, Anemia of inade... OMIM:613673
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Brittle scalp hair, Fine hair OMIM:600771
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scalp hair, Sparse and ... OMIM:613573
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Increased total iron binding capacity, Dystonia, Truncal ataxia, Hyperglycine... ORPHA:309854
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Hypoplastic toenails, Thin toenail, Ridged fingernail, Hypoplastic finge... ORPHA:2228
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Ataxia ORPHA:33574
Mental Retardation, Autosomal Dominant 34
Curly hair, Coarse hair, Synophrys OMIM:616351
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Nail dysplasia, Brittle hair, Alopecia OMIM:104100
Peeling Skin Syndrome 1
Onycholysis, Brittle hair, Abnormality of hair texture OMIM:270300
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Slow-growing hair, Nail dysplasia, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:129490
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Low posterior hairl... ORPHA:163654
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Clouston Syndrome
Onycholysis, Small nail, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Trichothiodystrophy 2, Photosensitive
Brittle hair, Coarse hair, Tiger tail banding OMIM:616390
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Noonan Syndrome 6
Curly hair, Low posterior hairline, Sparse hair, Long eyebrows OMIM:613224
Leopard Syndrome 2
Curly hair OMIM:611554
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Skin Fragility-Woolly Hair Syndrome
Nail dysplasia, Sparse and thin eyebrow, Alopecia, Woolly hair, Nail dystrophy, Sparse eyelashes OMIM:607655
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Dystrophic toenail, Dystrophic fingernails,... ORPHA:1882
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Brittle scalp hair, Abnormality of the nail, Brittle hair OMIM:262020
Noonan Syndrome 5
Curly hair, Small nail, Sparse eyebrow, Fine hair OMIM:611553
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Ataxia, Decreased hemoglobin conce... ORPHA:713
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Absent eyebrow, Alopecia universalis, Alopecia, Brittle hair, ... ORPHA:2890
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair OMIM:617360
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Brittle hair, Pili canaliculi, Woolly hair, Trichorrhexis nodosa OMIM:614602
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair texture, Progressive h... OMIM:225060
Naxos Disease
Onycholysis, Curly hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Nail dystrophy OMIM:601214
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Noonan Syndrome 8
Curly hair OMIM:615355
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Livedoid Vasculopathy
Leukocytosis, Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Anemia, Hyper... ORPHA:542643
Pachyonychia Congenita 2
Dry hair, Nail dysplasia, Subungual hyperkeratosis, Sparse scalp hair, Sparse and thin eyebrow, N... OMIM:167210
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Spherocytosis, Type 5
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612690
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Sitosterolemia 1
Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Ataxia OMIM:300653
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Sparse eyelashes, Hyperconvex nail, Sparse axillary hair, Abnormality o... ORPHA:189
Trichohepatoneurodevelopmental Syndrome
Curly hair, Coarse hair, Synophrys, Hypoplastic nipples, Hypertrichosis, Woolly hair OMIM:618268
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepa... OMIM:611590
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Nail dysplasia, Concave nail, Brittle hair, Abnormality of hair texture,... OMIM:234050
Noonan Syndrome 4
Curly hair, Sparse eyebrow, High anterior hairline OMIM:610733
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Trichohepatoenteric Syndrome 1
Sparse hair, Curly hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Fine hair OMIM:222470
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Bazex Syndrome
Sparse hair, Coarse hair, Trichorrhexis nodosa, Pili torti, Trichoepithelioma OMIM:301845
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Oculodentodigital Dysplasia
Abnormality of the nail, Sparse hair, Curly hair, Slow-growing hair, Brittle hair, Fine hair, Abn... ORPHA:2710
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Brittle hair, Sparse hair ORPHA:1883
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Trichothiodystrophy 3, Photosensitive
Brittle hair, Tiger tail banding OMIM:616395
Cardiofaciocutaneous Syndrome 1
Sparse hair, Absent eyelashes, Curly hair, Absent eyebrow, Slow-growing hair, Low posterior hairline OMIM:115150
Poems Syndrome
Polycythemia, Thrombocytosis ORPHA:2905
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Thrombocytopenia, Hypokalemia, Hy... ORPHA:88673
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Sparse hair, Curly hair, High anterior hairline, Slow-growing hair, Low po... OMIM:617506
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Odontoonychodermal Dysplasia
Dry hair, Sparse hair, Anonychia, Nail dysplasia, Sparse scalp hair, Sparse and thin eyebrow, Dys... OMIM:257980
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevat... OMIM:274150
X-Linked Dominant Chondrodysplasia Punctata
Abnormality of hair texture, Scarring alopecia of scalp, Abnormal fingernail morphology ORPHA:35173
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse hair, Curly hair, Long eyelashes, Sparse scalp hair, Loose anagen hair OMIM:607721
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Fine hair ORPHA:181393
Progeroid Syndrome, Petty Type
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Long eyelashes in irregular rows,... ORPHA:2963
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Weaver Syndrome
Hypoplastic toenails, Deep-set nails, Thin nail, Fine hair, Abnormal fingernail morphology ORPHA:3447
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Noonan Syndrome 2
Curly hair, Low posterior hairline, Sparse eyebrow OMIM:605275
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Distichiasis, Fine hai... OMIM:211370
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Leukonychia, Nail dystrophy, Fragile nails OMIM:615821
Craniofrontonasal Dysplasia
Widow's peak, Ridged fingernail, Abnormality of hair texture, Woolly hair, Low posterior hairline ORPHA:1520
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Pili canaliculi, Uncombable hair OMIM:191482
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Noonan Syndrome 10
Curly hair, Sparse eyebrow OMIM:616564
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Tiger tail banding, Slow-growing hair OMIM:616943
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair OMIM:248010
Hereditary Mucoepithelial Dysplasia
Fine hair, Sparse hair, Alopecia ORPHA:1839
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Hypoplastic toenails, Thick hair, Curly hair, Long eyelashes, Synophrys, T... ORPHA:444077
Trichothiodystrophy 1, Photosensitive
Small nail, Sparse hair, Tiger tail banding, Nail dystrophy, Brittle hair, Abnormality of hair te... OMIM:601675
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Sparse hair, Tiger tail banding, Slow-growing hair OMIM:300953
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Long eyelashes, High anterior hairline, Fine hair ORPHA:231137
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Anemia OMIM:184850
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Adult Syndrome
Nail pits, Abnormality of the nail, Absent nipple, Breast hypoplasia, Fingernail dysplasia, Hypop... ORPHA:978
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Fine hair, Abnormal fingernail morphology ORPHA:1028
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Coarse hair, Alopecia ORPHA:75389
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean... OMIM:618278
Acrogeria
Fine hair ORPHA:2500
Netherton Syndrome
Sparse scalp hair, Brittle scalp hair, Sparse and thin eyebrow, Brittle hair OMIM:256500
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231214
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Sparse lateral eyebrow, Sparse or absent eyelashes, Brittle hair, Aplasia/Hypo... ORPHA:3353
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Uncombable hair, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair ORPHA:3082
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Steatorrhea, Pancytopenia, Thrombocytopenia, Acute myel... OMIM:260400
Zttk Syndrome
Curly hair, Sparse eyebrow, Broad eyebrow OMIM:617140
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Netherton Syndrome
Abnormal hair morphology, Sparse scalp hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Fine ... ORPHA:634
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Abetalipoproteinemia
Gait ataxia, Acanthocytosis, Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Ataxia, Hy... ORPHA:14
Spinocerebellar Ataxia With Dysmorphism
Coarse hair OMIM:271270
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
2Q32Q33 Microdeletion Syndrome
Fine hair, Sparse hair ORPHA:251019
Costello Syndrome
Sparse hair, Deep-set nails, Curly hair, Concave nail, Thin nail, Fragile nails OMIM:218040
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Coarse hair, Abnormality of hair texture OMIM:219200
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Brittle hair OMIM:617412
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Distal Trisomy 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture OMIM:608612
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Pili canaliculi, Progressive alopecia,... OMIM:129400
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Incontinentia Pigmenti
Nail pits, Sparse hair, Breast hypoplasia, Ridged nail, Coarse hair, Breast aplasia, Nail dysplas... OMIM:308300
Tonne-Kalscheuer Syndrome
Small nail, Fine hair OMIM:300978
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Beckwith-Wiedemann Syndrome
Polycythemia, Elevated alpha-fetoprotein, Splenomegaly ORPHA:116
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Leukonychia, Slow-growing hair, Concave nail, Thin nail, Sparse lateral eyebrow, Thi... OMIM:190350
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Lethargy, Pure red cell aplasi... ORPHA:124
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Brittle hair, Dry hair, Nail dystrophy ORPHA:93947
Leukocyte Adhesion Deficiency
Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Acute myeloid leukemi... ORPHA:2968
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Sparse hair OMIM:616817
19Q13.11 Microdeletion Syndrome
Sparse hair, Nail dysplasia, Sparse lateral eyebrow, Sparse or absent eyelashes, Supernumerary ni... ORPHA:217346
Cartilage-Hair Hypoplasia
Sparse hair, Sparse facial hair, Fair hair, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:250250
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Low anterior hairline, Sparse hair, Synophrys ORPHA:391408
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Decreased HDL cholesterol co... ORPHA:330015
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Hirsutism, Coarse hair, Synophrys OMIM:252940
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Fetal Hydantoin Syndrome
Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Synophrys OMIM:252930
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Oculogyric crisis, Torticollis, Exaggerated startle respons... OMIM:608643
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Revesz Syndrome
Nail pits, Sparse hair, Ridged fingernail, Fine hair, Nail dystrophy OMIM:268130
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Sparse hair OMIM:614438
Costello Syndrome
Hypoplastic toenails, Abnormal hair morphology, Deep-set nails, Concave nail, Woolly hair, Abnorm... ORPHA:3071
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Reduced hematocrit, Normocytic anemia, Normochromi... ORPHA:91500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Broad lateral eyebrow, Sparse eyebrow ORPHA:500150
Telangiectasia, Hereditary Hemorrhagic, Type 2
Polycythemia, Anemia OMIM:600376
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Sparse hair, Abnormal fingernail morphology ORPHA:1806
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Gait disturbance, Increased serum beta-hexosaminidase, Laryn... ORPHA:845
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Curly hair, Hypertrichosis ORPHA:480880
Mucoepithelial Dysplasia, Hereditary
Coarse hair, Nail dysplasia, Chronic monilial nail infection, Alopecia, Nail dystrophy OMIM:158310
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Sparse hair OMIM:118650
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
Intellectual Disability, Buenos-Aires Type
Fine hair, Hyperconvex thumb nails, Abnormal fingernail morphology ORPHA:3079
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Ataxia, Broad-based gait ORPHA:438216
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Cerebrofaciothoracic Dysplasia
Coarse hair, Synophrys, Thick eyebrow, Abnormal hair pattern, Low posterior hairline ORPHA:1394
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Fine hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Hirsutism, Coarse hair, Synophrys, Long eyelashes, Low posterior hairline OMIM:617303
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Alopecia, Premature graying of hair, Fine hair OMIM:613990
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse hair, Hyperconvex nail, Coarse hair, Hyperconvex fingernails, Sparse and thin eyebrow, Dys... ORPHA:1071
Schimke Immunoosseous Dysplasia
Fine hair, Coarse hair OMIM:242900
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly, Ataxia OMIM:268800
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Telangiectasia, Hereditary Hemorrhagic, Type 1
Polycythemia, Anemia OMIM:187300
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Absent eyelashes, Absent eyebrow, Hypoplastic nipples, Concave nail, ... OMIM:305100
Kid Syndrome
Hypoplastic toenails, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology... ORPHA:477
Trisomy 20P
Low anterior hairline, Highly arched eyebrow, Thick hair, Coarse hair, Thick eyebrow, Low posteri... ORPHA:261318
Cardiofaciocutaneous Syndrome
Sparse hair, Abnormal eyelash morphology, Slow-growing hair, Sparse or absent eyelashes, Brittle ... ORPHA:1340
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Reduced ha... ORPHA:79277
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Hallermann-Streiff Syndrome
Sparse hair, Sparse and thin eyebrow, Alopecia, Abnormality of hair texture, Sparse body hair, Sp... ORPHA:2108
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Aplastic/hypoplastic toenail, Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1812
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Trichothiodystrophy
Ridged nail, Tiger tail banding, Sparse scalp hair, Alopecia of scalp, Split nail, Concave nail, ... ORPHA:33364
Cranioectodermal Dysplasia 3
Broad nail, Short nail, Sparse hair, Fine hair OMIM:614099
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Argininosuccinic Aciduria
Trichorrhexis nodosa, Brittle hair, Dry hair OMIM:207900
Multiple Sulfatase Deficiency
Thick eyebrow, Coarse hair ORPHA:585
Hallermann-Streiff Syndrome
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:234100
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair ORPHA:50814
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Scalp-Ear-Nipple Syndrome
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Breast aplasia, Nail dysplasia, F... OMIM:181270
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair OMIM:612394
Oculodentodigital Dysplasia
Sparse hair, Dry hair, Slow-growing hair, Fine hair, Fragile nails OMIM:164200
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Reticulocytosis, Neutropenia, Ataxia, Steatorrhea, Pancytopenia, ... ORPHA:699
Popov-Chang syndrome
Coarse hair OMIM:618428
2P15P16.1 Microdeletion Syndrome
Long eyelashes, Supernumerary nipple, Sparse and thin eyebrow, Fine hair ORPHA:261349
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... ORPHA:2330
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Oculodentodigital Dysplasia, Autosomal Recessive
Fine hair, Sparse eyelashes OMIM:257850
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Koolen-De Vries Syndrome
Abnormality of hair texture, Fair hair OMIM:610443
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Eec Syndrome
Nail pits, Coarse hair, Slow-growing hair, Thick eyebrow, Sparse and thin eyebrow, Fine hair, Nai... ORPHA:1896
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Coarse hair, Hypopigmentation of hair, Dry hair ORPHA:1974
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Fine hair, Sparse hair ORPHA:251028
Weaver Syndrome
Fine hair, Deep-set nails, Thin nail, Sparse hair OMIM:277590
Syndromic Diarrhea
Hypopigmentation of hair, Uncombable hair, Brittle hair, Woolly hair, Trichorrhexis nodosa ORPHA:84064
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Low anterior hairline, Dry hair OMIM:618569
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Brittle hair, Sparse hair OMIM:618891
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Ogden Syndrome
Long eyelashes, Sparse and thin eyebrow, Fine hair OMIM:300855
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly ORPHA:79255
Dubowitz Syndrome
Low anterior hairline, Hypoplastic toenails, Sparse scalp hair, Sparse lateral eyebrow, Fine hair... ORPHA:235
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Ablepharon Macrostomia Syndrome
Sparse hair, Absent eyelashes, Breast hypoplasia, Absent eyebrow, Abnormal hair pattern, Fine hair ORPHA:920
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Sener Syndrome
Coarse hair OMIM:606156
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hypoplastic nipples, Sparse hair, Fine hair OMIM:280000
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Mucopolysaccharidosis Type 3
Thick hair, Hirsutism, Coarse hair, Synophrys, Generalized hirsutism ORPHA:581
Cerebellar-Facial-Dental Syndrome
Fine hair, Sparse eyebrow, Sparse hair ORPHA:444072
Focal Dermal Hypoplasia
Absent toenail, Sparse hair, Absent fingernail, Nail dysplasia, Hypoplastic nipples, Brittle hair... OMIM:305600
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Decreased serum iron, Exaggerated startle response, Anemia, Broad-ba... ORPHA:438213
Cranioectodermal Dysplasia 1
Sparse hair, Slow-growing hair, Thin nail, Short nail, Fine hair OMIM:218330
Mucolipidosis Type Ii
Fine hair, White hair, Dry hair ORPHA:576
Woodhouse-Sakati Syndrome
Fine hair, Sparse hair, Alopecia OMIM:241080
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Onycholysis, Sparse scalp hair, Sparse and thin eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes OMIM:614748
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair OMIM:607812
Orofaciodigital Syndrome Type 1
Sparse hair, Brittle hair, Coarse hair, Alopecia ORPHA:2750
Hajdu-Cheney Syndrome
Low anterior hairline, Coarse hair, Synophrys, Thick eyebrow, Generalized hirsutism, Abnormal fin... ORPHA:955
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Fine hair, Sparse hair OMIM:613563
Fontaine Progeroid Syndrome
Low anterior hairline, Small nail, Absent nipple, Anonychia, Coarse hair, Synophrys, Hypoplastic ... OMIM:612289
Noonan Syndrome
Low posterior hairline, Coarse hair, Abnormal hair quantity ORPHA:648
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Cockayne Syndrome B
Sparse hair, Dry hair, Abnormal hair morphology OMIM:133540
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypoplastic sweat glands, Thick eyebrow, Synophrys, Abnormality of hair texture ORPHA:73223
Chime Syndrome
Fine hair, Sparse hair ORPHA:3474
Lysinuric Protein Intolerance
Fine hair, Sparse hair OMIM:222700
Cockayne Syndrome A
Sparse hair, Dry hair OMIM:216400
Distal Monosomy 12Q
Small nail, Fine hair ORPHA:96149
Myhre Syndrome
Fine hair, Thick eyebrow, Sparse hair OMIM:139210
Coffin-Siris Syndrome 1
Dry hair, Anonychia, Hypoplastic fifth fingernail, Long eyelashes, Facial hypertrichosis, Lumbosa... OMIM:135900
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair ORPHA:90324
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair OMIM:309350
Cockayne Syndrome
Fine hair, Dry hair ORPHA:191
Coffin-Lowry Syndrome
Highly arched eyebrow, Abnormal hair morphology, Coarse hair, Thick eyebrow, Hyperconvex fingernails OMIM:303600
Occipital Horn Syndrome
Coarse hair OMIM:304150
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Witteveen-Kolk Syndrome
High anterior hairline, Fine hair, Medial flaring of the eyebrow OMIM:613406
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Fine hair ORPHA:534
Renpenning Syndrome 1
Sparse lateral eyebrow, Brittle hair, Sparse hair OMIM:309500
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair ORPHA:83617
Vascular Ehlers-Danlos Syndrome
Abnormal eyelash morphology, Abnormality of hair texture, Alopecia, Aplasia/Hypoplasia of the eye... ORPHA:286
Alström Syndrome
Frontal balding, Hirsutism, Fine hair 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.

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MGI Allele Allele Type Produced
Fam83gtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, 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) Targeting vectors, ES Cells

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