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Gene: Fhit MGI:1277947

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
fragile histidine triad gene
Synonyms:
Fra14A2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Fhit 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 Fhit by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia ORPHA:499
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal ... OMIM:614172
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent viral infections, Recurrent ... OMIM:614868
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Lymphoproliferative disorder, A... OMIM:614470
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
L-Ferritin Deficiency
Alopecia OMIM:615604
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia OMIM:610738
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections,... ORPHA:169154
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... ORPHA:50944
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Thumb Deformity And Alopecia
Alopecia OMIM:188150
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Lymphoma, Malabsorption ORPHA:100025
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro... OMIM:615214
Jejunal Atresia
Jejunal atresia OMIM:243600
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Alopecia, Autoimmune hemolytic anemia, Recurrent pneumonia, R... OMIM:616576
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Autoimmune hemolytic ... OMIM:615559
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Chronic o... OMIM:616740
Visceral Myopathy 2
Intestinal obstruction, Barrett esophagus, Intestinal pseudo-obstruction, Intestinal malrotation,... OMIM:619350
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Oropharyngeal squamous cell carcinoma, Yellow nails, Onychomycosis, Breast... OMIM:614564
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Fine hair, Dystrop... ORPHA:1882
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Verrucae, Neutropenia OMIM:193670
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o... ORPHA:75564
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... ORPHA:2688
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Recurrent infe... OMIM:258360
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections OMIM:616941
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N... OMIM:615285
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... ORPHA:98826
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Hirsu... OMIM:617475
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Eosinophilia, Recurrent pneumonia, Chronic mucocutane... OMIM:618282
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Classic Mycosis Fungoides
Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, Abnormal lymph... ORPHA:2584
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... ORPHA:486
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Anemia, Hamartomato... ORPHA:2930
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Throm... OMIM:603554
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Pancytopenia, Impaired neutrophil chemotaxis, Severe varicella ... OMIM:618986
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Alopecia, Increased mean platelet volume, Recurrent viral infections OMIM:617443
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Absent circulating B cells, Recurrent si... OMIM:619707
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Au... ORPHA:572
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pharyngi... OMIM:308240
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Abnormality of the nail, Neoplasm of the skin, Generalized hi... ORPHA:317
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Recurrent pneumonia, Sepsis, Anemia, Neoplasm, N... ORPHA:47
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Fibrodysplasia Ossificans Progressiva
Alopecia, Anemia ORPHA:337
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Omenn Syndrome
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Sepsis, Aplasia/Hypoplasia of the e... ORPHA:39041
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... OMIM:229050
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... OMIM:607676
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Immunodeficiency, Common Variable, 10
Trachyonychia, Frequent Giardia lamblia infestation, Recurrent oral herpes, Alopecia totalis, Rec... OMIM:615577
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Sézary Syndrome
Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Nail dystrophy, Neoplasm of the skin... ORPHA:3162
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Diarrhea 9
Villous atrophy OMIM:618168
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Myelodysplasia, Thrombocytopenia, Nail pits, Premature gr... OMIM:127550
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Anemia, Coombs-positive he... OMIM:304790
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Hereditary Mucoepithelial Dysplasia
Sparse hair, Recurrent respiratory infections, Alopecia, Fine hair ORPHA:1839
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Recurrent infections, Basal cell carcinoma, Melanoma, Squamous cell c... OMIM:620040
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Spars... OMIM:250250
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Neoplasm of the oral cavity ORPHA:525
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha... ORPHA:47612
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia OMIM:615704
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair ORPHA:3051
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, Recurrent vira... ORPHA:293978
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... ORPHA:158048
Nk-Cell Enteropathy
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abnormal gastric mucosa morpho... ORPHA:263665
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Inclusion body fibromatosis, Alopecia ORPHA:88630
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Squamous cell carcinoma OMIM:618373
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Neoplasm of the lung, Melanoma, Neoplasm of the skin, S... ORPHA:659
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy... OMIM:601495
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Keutel Syndrome
Recurrent otitis media, Recurrent respiratory infections, Alopecia, Recurrent sinusitis ORPHA:85202
Pancreatic Colipase Deficiency
Cholelithiasis, Fat malabsorption, Steatorrhea ORPHA:309108
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Malabsorption, Lymphoma, Protein-losing enteropat... ORPHA:398063
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Trichothiodystrophy 3, Photosensitive
Brittle hair, Recurrent infections, Neoplasm of the skin, Neutropenia, Tiger tail banding, Lympho... OMIM:616395
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail,... ORPHA:3253
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh... OMIM:602579
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Neutropenia, Meningitis, Verrucae ORPHA:33110
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Coarse hair, Nail... OMIM:158310
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... OMIM:615816
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... OMIM:261990
Hypomelanosis Of Ito
Alopecia OMIM:300337
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Recurrent infections, Anemia, Neutropenia OMIM:617056
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... ORPHA:79319
Pachyonychia Congenita
Alopecia, Steatocystoma multiplex, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, ... ORPHA:2309
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Alg6-Cdg
Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Jaundice ORPHA:79320
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... OMIM:214500
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia ORPHA:1867
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Recurrent respiratory infections... ORPHA:1775
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Neutropenia ORPHA:2643
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Alopecia, Microcytic anemia, Recurrent viral infections, Low posterior ... ORPHA:2959
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative ... OMIM:614700
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d... OMIM:613990
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Splenomegaly, Premature graying of hair, Hemophagocytosis... ORPHA:79477
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... OMIM:308300
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Thin eyebrow ORPHA:3242
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... ORPHA:2330
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Squamous cell carcinoma, Nail dystrophy, Nail dysplasia, Anemia OMIM:226600
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Bloom Syndrome
Recurrent herpes, Severe varicella zoster infection, Paronychia, Neoplasm, Neoplasm of the breast... ORPHA:125
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Decreased liver function ORPHA:79327
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Immunodeficiency 55
Absent natural killer cells, Myelodysplasia, Recurrent infections, Neutropenia, Lymphopenia OMIM:617827
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Sepsis, Decreased ... ORPHA:2686
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Sepsis, Anemia, Neutropenia ORPHA:289916
Kury-Isidor Syndrome
Recurrent otitis media, Alopecia, Hypertrichosis OMIM:619762
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocellular carcinom... OMIM:601847
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Aggressive Systemic Mastocytosis
Pancytopenia, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatospleno... ORPHA:98850
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Alopecia, Autoimmune hemolytic anemia, Autoimmune thrombocytope... ORPHA:37042
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:619752
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Aplastic anemia, Myelodysplasia, Sparse eyebrow, Neutropenia,... ORPHA:2909
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Fair hair, Albinism, Splenomegaly, Recu... OMIM:608233
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Thrombocytopenia, Synophrys, Splenomegaly, Low anterior hairlin... OMIM:617303
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Fair hair, Recu... OMIM:302060
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Chronic mucocutaneous candidiasis, Thymoma, Iron deficiency anemia OMIM:269200
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormal neutrophil morphology... ORPHA:51636
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis ORPHA:3453
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Fibrodysplasia Ossificans Progressiva
Alopecia, Hamartoma OMIM:135100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes ORPHA:2316
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Recurrent ear infections, Hypoplas... ORPHA:544488
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Jaundice, Cirrhosis, Cholelithiasi... OMIM:211600
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sparse hair OMIM:607626
Duodenal Atresia
Duodenal atresia OMIM:223400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Asplenia, Chronic mucocutaneous candidiasis, Nail dystrophy, Chronic oral candidiasis, ... OMIM:240300
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... ORPHA:79303
Poikiloderma With Neutropenia
Sparse eyebrow, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Low pos... OMIM:604173
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Acute myeloid leukemia, Sparse eyelashes, Pancytopenia, Oropha... OMIM:305000
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia ORPHA:79242
Autoimmune Polyendocrinopathy Type 4
Alopecia, Macrocytic anemia, Autoimmune thrombocytopenia, Thymoma, Chronic mucocutaneous candidia... ORPHA:227990
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Thrombocytope... ORPHA:974
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Alopecia totalis, Myelodysplasia, Squamous cell carcinoma, Anemia, Sparse or abs... ORPHA:221008
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Splenomegaly, Sepsis,... OMIM:308230
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... OMIM:612541
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Autoimmune Polyendocrinopathy Type 3
Alopecia, Macrocytic anemia, Autoimmune thrombocytopenia, Thymoma, Chronic mucocutaneous candidia... ORPHA:227982
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Alopecia totalis, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Anemia, Spa... ORPHA:221016
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph... ORPHA:464
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Sepsis, Anemia, Leukopenia, Neutropenia, Meningitis... ORPHA:292
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Onychogryposis, Sepsis, Recurrent infections, Squamous cell carcinoma of the skin, Nail... ORPHA:79396
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Premature graying of hair, Leukopenia, White forelock, Nail dystro... OMIM:613989
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Monosomy 18P
Alopecia, Low posterior hairline ORPHA:1598
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Thin nail, Small nail OMIM:242100
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, An... OMIM:617052
Trichotillomania
Alopecia OMIM:613229
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Protein-losing enteropathy, Decreased liver function, Cholestasis OMIM:608104
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia... ORPHA:508542
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Exostoses ORPHA:1647
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Hypopigmentation of hair, Pan... ORPHA:167
Mixed Connective Tissue Disease
Hemolytic anemia, Alopecia, Splenomegaly, Leukopenia, Meningitis ORPHA:809
Pediatric Systemic Lupus Erythematosus
Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails OMIM:242150
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Aspergillosis
Eosinophilia, Hematological neoplasm, Meningitis, Unusual CNS infection, Invasive pulmonary asper... ORPHA:1163
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes OMIM:137940
Hemochromatosis, Type 1
Splenomegaly, Alopecia OMIM:235200
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Basal cell carcinoma, Hemangioma OMIM:163200
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Developmental And Epileptic Encephalopathy 66
Synophrys, Anemia, Neutropenia OMIM:618067
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Recurrent infections, Persistence of hemogl... OMIM:260400
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Lymphoma, Iron deficiency anemia, Thrombocytosis OMIM:212750
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Bresek Syndrome
Alopecia ORPHA:85284
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hemangioma ORPHA:2067
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Papillary... ORPHA:363618
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
Cog8-Cdg
Elevated hepatic transaminase, Protein-losing enteropathy ORPHA:95428
Encephalocraniocutaneous Lipomatosis
Alopecia, Astrocytoma, Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma OMIM:613001
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
H Syndrome
Abnormal eyebrow morphology, Alopecia, Histiocytosis, Microcytic anemia, Recurrent pharyngitis, H... ORPHA:168569
Schimke Immunoosseous Dysplasia
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Fine hair, Recurrent infections, Coar... OMIM:242900
Dextrocardia
Neuroblastoma, Meckel diverticulum, Intestinal malrotation ORPHA:1666
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Fusariosis
Brain abscess, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Paronychia, Invas... ORPHA:228119
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Chronic hepatitis, Colitis, Cirrhosis OMIM:614602
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Leigh Syndrome
Alopecia, Severe viral infection, Neutropenia, Frontal hirsutism, Anemia, Hypertrichosis ORPHA:506
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyelashes, Absent eyebrow, Alopecia, Small nail ORPHA:166035
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Biotinidase Deficiency
Alopecia, Recurrent fungal infections, Recurrent candida infections, Recurrent viral infections ORPHA:79241
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Steatorrhea, Fat malabsor... ORPHA:71
Mogs-Cdg
Alopecia, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Fair hair, Hirsutism ORPHA:79330
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Renal cell carcinoma, Meningioma, Neuroendocrine neoplasm, Hirsutism ORPHA:189427
Acute Promyelocytic Leukemia
Pancytopenia, Chronic infection, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Thrombocytopenia, Recurrent infections, Decre... ORPHA:1830
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Johanson-Blizzard Syndrome
Anemia, Alopecia, Abnormal hair pattern ORPHA:2315
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Functional abnorm... ORPHA:90362
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Recurrent bronchopulmonar... ORPHA:33364
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... OMIM:115470
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia OMIM:253270
Insulin-Resistance Syndrome Type B
Alopecia, Lymphoma, Hirsutism, Hodgkin lymphoma, Leukopenia, Multiple myeloma, Thrombocytopenia ORPHA:2298
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... ORPHA:37
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Neutropenia OMIM:618253
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair OMIM:608612
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Hypoplastic fingernail ORPHA:2457
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Renal transitional cell carcinoma, Basal cell carcinoma, Patchy alopecia, Pheoc... ORPHA:2874
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Macs Syndrome
Sparse hair, Alopecia, Sparse eyebrow OMIM:613075
Adrenoleukodystrophy
Alopecia OMIM:300100
Diamond-Blackfan Anemia 7
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren... OMIM:612562
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Sparse eyelashes OMIM:610768
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Jaundice, Cholestasis, Acholic ... ORPHA:30391
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hemolytic anemia, Splenomegaly, Loss of eyelashes, Thrombocytopenia, Hy... OMIM:263700
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Rib exostoses, Sparse ha... ORPHA:2108
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... ORPHA:906
Vici Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Albinism, Recurrent viral infections,... OMIM:242840
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... OMIM:106260
Alstrom Syndrome
Alopecia, Recurrent pneumonia OMIM:203800
Atypical Werner Syndrome
Abnormal hair quantity, Renal neoplasm, Alopecia, Abnormal hair morphology, Abnormal hair whorl, ... ORPHA:79474
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Alopecia totalis, Thrombocytopenia OMIM:618775
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Alopecia ORPHA:98907
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duo... ORPHA:210122
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia, Recurrent respiratory infections, Albinism OMIM:617050
Giant Cell Arteritis
Recurrent pharyngitis, Alopecia, Meningitis ORPHA:397
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Recurrent urinary tract infections, Paronychia, Sepsis, Squamous cell carcinoma, Pyoder... ORPHA:79404
Sepsis In Premature Infants
Neonatal sepsis, Disseminated viral infection, Splenomegaly, Leukocytosis, Severe infection, Anem... ORPHA:90051
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Small nail, Neutropenia OMIM:614520
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... OMIM:230740
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Low anterior... ORPHA:124
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... ORPHA:158687
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Cleft palate, High palate, Protein-losing enteropathy, Hepatic failure OMIM:235255
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Recurrent infections, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Necrotizing Enterocolitis
Neonatal sepsis, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Linear Nevus Sebaceus Syndrome
Alopecia, Adenoma sebaceum, Cavernous hemangioma ORPHA:2612
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Cohen Syndrome
Leukopenia, Thick eyebrow, Neutropenia OMIM:216550
Ane Syndrome
Alopecia ORPHA:157954
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Nail dystrophy ORPHA:90154
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Recurrent respiratory infections, R... ORPHA:163956
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy, Hepatomegaly OMIM:618440
Mandibuloacral Dysplasia With Type A Lipodystrophy
Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia ORPHA:90153
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Hirsutism, Neutropenia OMIM:618005
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Infectious encephalitis, Thrombocytopenia ORPHA:540
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Testicular adrenal rest tumor, Hirsutism ORPHA:90795
Kikuchi-Fujimoto Disease
Alopecia, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia, Meningitis, Anemia ORPHA:50918
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... ORPHA:512
Encephalocraniocutaneous Lipomatosis
Alopecia, Neoplasm of the skeletal system, Abnormal eyelash morphology, Visceral angiomatosis, Mu... ORPHA:2396
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy OMIM:614008
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Focal Dermal Hypoplasia
Alopecia, Papilloma, Abnormality of the nail, Giant cell tumor of bone ORPHA:2092
Immunodeficiency 31C
Hepatomegaly, Villous atrophy, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussu... OMIM:614162
Biotinidase Deficiency
Splenomegaly, Alopecia OMIM:253260
Wolcott-Rallison Syndrome
Iron deficiency anemia, Recurrent infections, Lymphocytosis, Neutropenia ORPHA:1667
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hepatosplenomegaly, High palate, Protein-losing enteropathy, Hepatic failure ORPHA:1655
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Narrow palate OMIM:235510
Xeroderma Pigmentosum
Alopecia, Melanoma, Neoplasm, Papilloma, Neoplasm of the eye ORPHA:910
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Methylmalonic Acidemia With Homocystinuria Type Cblf
Recurrent infections, Neutropenia, Megaloblastic anemia ORPHA:79284
Colchicine Poisoning
Leukocytosis, Alopecia ORPHA:31824
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Hamartoma of tongue, Odontogenic neoplasm, Coarse hair, Sparse hair ORPHA:2750
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Alopecia, Recurrent urinary tract infections, Testicular neopla... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Alopecia, Recurrent urinary tract infections, Testicular neopla... ORPHA:363958
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus... OMIM:607944
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Meckel diverticulum OMIM:311900
Orofaciodigital Syndrome I
Alopecia, Dry hair, Hamartoma of tongue, Hypothalamic hamartoma, Sparse hair OMIM:311200
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Recurrent respiratory infections, Abnormal eyelash mor... ORPHA:2273
Shwachman-Diamond Syndrome 2
Normocytic anemia, Recurrent infections, Thrombocytopenia, Neutropenia OMIM:617941
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Recurrent infections, Thick eyebrow, Neutropenia OMIM:615471
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... OMIM:263650
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Ne... OMIM:557000
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Abnormality of the liver, Colitis, Hepatic fibrosis, Ci... ORPHA:84064
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Sepsis, Nail dystrophy, Sparse hair, Alopecia universalis ORPHA:158668
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Onychogryposis OMIM:248370
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Hematological neoplasm, Hematemesis, Enterocolitis, Hepat... ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Villous atrophy, Esophageal carcinoma, Enterocolitis, Hepa... ORPHA:391487
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227645
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine, Hepatic fibrosis OMIM:200995
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
Cohen Syndrome
Thick hair, Abnormal eyelash morphology, Low anterior hairline, Long eyelashes, Neutropenia, Thic... ORPHA:193
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Alopecia, Long eyelashes, Fingernail dysplasia ORPHA:1507
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Elevated circulatin... OMIM:619573
Systemic Lupus Erythematosus
Leukopenia, Alopecia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Autosomal Dominant Robinow Syndrome
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Capillary hemangioma, Ridged fin... ORPHA:3107
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Basal cell carcinoma, Squamous cell carcinoma of the skin, Long eyelash... ORPHA:79430
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Myeloproliferative dis... OMIM:190685
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia ORPHA:536532
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Recurrent respiratory infections, ... OMIM:264090
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Brain neoplasm, Choroidal melanoma, Early balding, Ovarian carci... ORPHA:273
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... OMIM:265380
Diamond-Blackfan Anemia 1
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... OMIM:105650
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Fanconi Anemia
Aganglionic megacolon, Myelodysplasia, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula... ORPHA:84
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Trisomy 8P
Malrotation of small bowel, Cleft palate, Aplasia/Hypoplasia of the gallbladder, Neuroblastoma, B... ORPHA:264450
Tarp Syndrome
Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology ORPHA:2886
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Sepsis, Anemia, Neutropenia, Thrombocytopenia ORPHA:537
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Small nail OMIM:308050
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Sparse body hair ORPHA:548
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Fine hair, Multiple lipomas, Patchy alop... OMIM:181270
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Recurren... OMIM:308205
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Steatorrhea, Fat malabs... ORPHA:14
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... ORPHA:99413
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... ORPHA:881
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... ORPHA:99226
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227646
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy OMIM:618183
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Glycogen Storage Disease Ib
Splenomegaly, Recurrent bacterial infections, Neutropenia OMIM:232220
Chronic Graft Versus Host Disease
Alopecia, Pancytopenia, Recurrent infections, Onycholysis, Nail dystrophy ORPHA:99921
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Thin nail, Neutropenia OMIM:617799
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Chronic gastritis, Hepatomegaly, Biliary hyperplasia, Intrahepatic... OMIM:619991
Khan-Khan-Katsanis Syndrome
Trichiasis, Highly arched eyebrow, Neutropenia, Lymphopenia, Anemia OMIM:618460
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Alopecia OMIM:619321
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology OMIM:601776
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Sarcoidosis
Hemolytic anemia, Alopecia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopenia, A... ORPHA:797
Cartilage-Hair Hypoplasia
Sparse hair, Anemia, Sparse eyebrow, Neutropenia ORPHA:175
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Ring Chromosome 13 Syndrome
Retinoblastoma, Alopecia ORPHA:96176
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, B-cell lymphoma, Gastritis, Hepatitis, Colitis, Anoperineal fist... OMIM:619381
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow ORPHA:2636
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Meckel diverticulum, Cleft palate, Facial capillary hemangioma OMIM:274000
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Small nail OMIM:100300
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum ORPHA:1708
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Severe infection, Anemia, Neutropenia, Hypoplastic s... ORPHA:699
Relapsing Polychondritis
Alopecia ORPHA:728
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatomegaly, Intestinal malrotation, Cleft palate, Narrow pala... OMIM:312870
Viss Syndrome
Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Hypereosinophilia, Hirsutism OMIM:619472
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Woodhouse-Sakati Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Dystrophic fingernails, Dys... ORPHA:740
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Biliary tract abnormality, Cleft palate, Gastroesophageal reflux, Hem... OMIM:194190
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
African Trypanosomiasis
Splenomegaly, Alopecia, Hepatosplenomegaly ORPHA:3385
Behcet Syndrome
Patchy alopecia OMIM:109650
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Sepsis, Nail dystrophy, Neutropenia, Anonychia, Anemia ORPHA:95455
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia OMIM:606170
Vascular Ehlers-Danlos Syndrome
Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... ORPHA:286
Autosomal Dominant Cutis Laxa
Small bowel diverticula ORPHA:90348
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... OMIM:601803
Aspartylglucosaminuria
Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia OMIM:208400
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Sponastrime Dysplasia
Recurrent pneumonia, Neutropenia ORPHA:93357

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 Fhit

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 Fhit.

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

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