Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cut-like homeobox 1
Synonyms:
Cux,  CDP,  Cutl1,  Cux-1

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.

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 Cux1 mutations

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

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

The table below shows human diseases associated to Cux1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Pulmonary sequestration OMIM:618330

The table below shows human diseases predicted to be associated to Cux1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Candidiasis, Familial, 1
Alopecia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Abnormality of the endoc... OMIM:114580
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Death in childhood, Acrocyanosis, Abnormality of the nail OMIM:302000
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... OMIM:620438
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:614839
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Sparse pubic hair, Male hypogonadism, Decreased serum testosterone con... ORPHA:52901
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Spermatogenic Failure 28
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:618086
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... OMIM:613953
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Sparse pubic hair, Male hypogonadism, Decreased circulating dihydrotestosterone concentration, An... OMIM:228300
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased serum testosterone concentration, Intrauterine growth r... OMIM:300869
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Decreased circulating gonadotropin concentration, Decreased s... OMIM:614841
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Male infertility, Chronic rhinitis OMIM:618801
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Aredyld
Generalized hypotrichosis OMIM:207780
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Immotile sperm, Reduced sperm motility, Shor... OMIM:612650
Kondoh Syndrome
Intrauterine growth retardation, Thick eyebrow, Short stature, Sparse hair, Widow's peak OMIM:606242
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum testosterone concentration, Decreased serum estradiol, Hypothalamic gonadotropin-... OMIM:618841
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, Bronchiectasis OMIM:615481
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Short stature, Recurrent bacterial infe... OMIM:616022
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis, Recurrent lo... OMIM:616726
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis, Male... OMIM:617091
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Postnatal growth re... ORPHA:453533
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic rhinitis, Reduced sperm motility, Short stature, Recurrent respirato... OMIM:612649
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Rhinitis, Reduced sperm motility, Infertility, Recur... OMIM:615500
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... ORPHA:189
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Hirsutism, Oligomenorrhea, Infertility, Acne OMIM:604931
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Infertility, Recurrent respiratory i... OMIM:616481
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul... OMIM:300400
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Thumb Deformity And Alopecia
Short stature, Alopecia OMIM:188150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Recurrent opportuni... OMIM:601457
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Failure to thrive ... OMIM:617241
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:615451
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Recurrent respiratory inf... OMIM:614935
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sepsis, Sparse eyebrow, Eczematoid dermatitis, Recurrent i... OMIM:256500
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Moynahan Syndrome
Alopecia, Hypogonadism, Cachexia, Short stature, Sparse hair ORPHA:2574
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Hypogonadism, Decreased serum testosterone concentration, Azo... OMIM:614897
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Small nail, Absence of secondary sex characteristics, Decreased serum testoste... ORPHA:163971
Omenn Syndrome
Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lympha... OMIM:603554
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:616950
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Bronchie... OMIM:615505
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, ... OMIM:615482
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Otitis media, Recurrent upper and lower respiratory tract infections, Rhinitis... ORPHA:70593
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... ORPHA:572
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:618695
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Reduced sperm motility, I... OMIM:615444
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Absen... OMIM:273250
Syndromic X-Linked Intellectual Disability 7
Short stature, Sparse body hair ORPHA:85274
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... ORPHA:163976
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Rhinitis, Male infertility OMIM:614874
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Oliver-Mcfarlane Syndrome
Severe short stature, Alopecia, Long eyelashes, Delayed puberty, Long eyebrows, Sparse hair OMIM:275400
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Chronic sinusitis, Infertility, Rhinitis, Chronic otitis media OMIM:618063
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Atrichia, Abnormal sebaceous gland morphology, Absent hair, Nail... OMIM:614931
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic rhinit... OMIM:608647
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive, Ectopic ossification in ligament tissue, Ectopic ossification in mus... ORPHA:337
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Sparse pubic hair, Decreased serum testosterone concentration, Azoospermia, Hypothalamic... OMIM:308700
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Short stature, Sparse hair OMIM:618625
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Eos... OMIM:243700
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... OMIM:617514
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Aplasia/Hypoplasia... ORPHA:202
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Depressed nasal bridge, Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes... OMIM:614941
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... ORPHA:331235
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dyspl... ORPHA:2251
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Hurler-Scheie Syndrome
Generalized hirsutism, Rhinitis, Short stature ORPHA:93476
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypothyroidism, ... ORPHA:1882
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Aredyld Syndrome
Craniofacial hyperostosis, Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel mor... ORPHA:1133
Trichothiodystrophy 9, Nonphotosensitive
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy OMIM:619692
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Slow-growi... ORPHA:90368
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Nasal polyposis, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chroni... OMIM:617092
Yellow Nail Syndrome
Yellow nails, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Abnormal t... ORPHA:662
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenomegaly, Hyp... ORPHA:2930
L-Ferritin Deficiency
Alopecia OMIM:615604
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Primary amenorrhea, Decreased serum estradiol, Sparse ... ORPHA:2232
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Periodontitis, Recurrent aphthous stomatitis, Recurrent in... ORPHA:486
Normosmic Congenital Hypogonadotropic Hypogonadism
Depressed nasal bridge, Male hypogonadism, Sparse body hair, Absence of secondary sex characteris... ORPHA:432
Heyn-Sproul-Jackson Syndrome
Severe short stature, Intrauterine growth retardation, Sparse hair OMIM:618724
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormal eyelash morphology, ... ORPHA:1006
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Short stature OMIM:619985
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Immunodeficiency 102
Recurrent upper respiratory tract infections, Sepsis, Recurrent sinusitis, Chronic sinusitis, Chr... OMIM:301082
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Xq27.3Q28 Duplication Syndrome
Short stature, Intrauterine growth retardation, Sparse body hair ORPHA:261483
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Bloom Syndrome
Severe toxoplasmosis, Sparse eyelashes, Oligozoospermia, Premature ovarian insufficiency, Male in... ORPHA:125
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary i... OMIM:616576
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Lymphaden... ORPHA:100024
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Short stature, Sparse hair, Growth delay ORPHA:2985
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Chronic rhinitis, Hypothyroidism, Bronchiectasis OMIM:617577
Alpha-Heavy Chain Disease
Alopecia, Splenomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia, Growth delay ORPHA:100025
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline OMIM:227260
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, De... ORPHA:169154
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Alopecia, Atrichia, Nail dystrophy, Short stature, Acrocyanosis, Growth delay, Congeni... ORPHA:1867
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurrent skin in... ORPHA:346
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Growth delay ORPHA:79402
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse scalp hair, Sparse body hair, Abnormal nasal morphology, Aplasia/Hypoplasia of t... ORPHA:2850
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Hypogonadism, Long eyelashes, Cr... ORPHA:3363
Felty Syndrome
Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent urinary tract infections... ORPHA:47612
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Chronic sinusitis, Chronic rhinitis ORPHA:922
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:612782
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytope... OMIM:619164
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Abnormal denta... ORPHA:2325
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Recurrent bacterial infections OMIM:607624
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... OMIM:619313
49,Xxxyy Syndrome
Wide nasal bridge, Male hypogonadism, Recurrent upper respiratory tract infections, Decreased ser... ORPHA:261534
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Death in infancy, Neonatal death OMIM:619334
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,... ORPHA:129
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Carboxypeptidase N Deficiency
Allergic rhinitis OMIM:212070
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Congenital Short Bowel Syndrome
Short stature, Sparse hair ORPHA:2301
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,... ORPHA:1433
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Hypogonadism, Decreased serum testosterone concentration, Alopecia ... OMIM:201100
Schopf-Schulz-Passarge Syndrome
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Nail dystrophy, Narrow ... OMIM:224750
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormal circulating estrogen level OMIM:619009
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Sparse body hair, Abnormal fingernail morphology, Abnormal toenail morpholo... ORPHA:1809
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr... OMIM:620651
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Reduced bone miner... ORPHA:1979
Immunodeficiency 61
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Chronic sinusitis, Chronic rhinitis OMIM:618300
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Immotile sperm, Chronic rhinitis OMIM:242670
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Male infertility, Reduced... OMIM:619044
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-... OMIM:618282
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Björnstad Syndrome
Hypogonadism, Alopecia, Brittle hair ORPHA:123
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Non-Acquired Isolated Growth Hormone Deficiency
Premature skin wrinkling, Prolonged neonatal jaundice, Delayed puberty, Short stature, Sparse hai... ORPHA:631
Ige Responsiveness, Atopic
Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... OMIM:602450
Eosinophilopenia
Allergic rhinitis OMIM:131430
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Sparse pubic hair, Elevated circulating luteinizing hormone level, Brea... ORPHA:3044
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... ORPHA:168563
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Recurrent otitis media, Hashimoto thyroiditis, Onychomycosis, Recurrent sinopu... OMIM:614468
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Immunodeficiency 95
Respiratory failure OMIM:619773
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Sparse pubic hair, Elevated circulating luteinizing hormone level, Pri... ORPHA:90796
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infec... OMIM:603165
Renpenning Syndrome
Severe short stature, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Decreased testicular... ORPHA:3242
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Alopecia Totalis
Type I diabetes mellitus, Inflammation of the large intestine, Alopecia totalis, Alopecia of scal... ORPHA:700
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Abnormal sperm motility, Bronchiectasis, Female infertility, ... ORPHA:244
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Spl... OMIM:615513
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Abnormal hair morphology, Lymphopenia, Decrea... OMIM:208900
49,Xyyyy Syndrome
Male hypogonadism, Recurrent upper respiratory tract infections, Decreased serum testosterone con... ORPHA:99330
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Recurrent viral infections, Insulin-resistant diabetes melli... ORPHA:2959
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Septic arthritis, Recurrent enteroviral infections, Conjunctivitis, Enteroviral dermat... OMIM:307200
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Severe short stature, Severe postnatal growth retardation, Alopecia, Prominent nose OMIM:203550
Systemic Lupus Erythematosus 17
Alopecia, Lymphopenia, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Absent facial hair, Sparse facial hair, Short stature ORPHA:2183
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Ciliary Dyskinesia, Primary, 1
Pneumonia, Anosmia, Nasal polyposis, Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Chr... OMIM:244400
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis ORPHA:26137
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair OMIM:618535
Netherton Syndrome
Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Emphysema, Sparse eyel... ORPHA:634
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai... OMIM:613102
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Synophrys ORPHA:2471
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Death in... OMIM:243150
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar... OMIM:604536
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Abnorma... OMIM:620103
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Delayed puberty, Growth d... OMIM:615704
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Anemia, Bone-marrow foam ce... ORPHA:75233
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Sparse scalp hair ORPHA:1660
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Mulibrey Nanism
Short stature, Intrauterine growth retardation, Cachexia ORPHA:2576
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormal testis morpholog... ORPHA:317
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I di... OMIM:606367
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Lessel-Kubisch Syndrome
Short stature, Sparse pubic hair, Premature graying of hair OMIM:618681
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm... ORPHA:83471
Schöpf-Schulz-Passarge Syndrome
Alopecia, Facial telangiectasia, Ectodermal dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse ... ORPHA:50944
Flynn-Aird Syndrome
Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl... ORPHA:2047
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m... OMIM:613501
Waardenburg Syndrome Type 3
Atelectasis, Thick eyebrow, Acrocyanosis, White hair ORPHA:896
Aarskog-Scott Syndrome
Wide nasal bridge, Elevated circulating luteinizing hormone level, Decreased serum testosterone c... OMIM:305400
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent aphthous stomatitis, Sk... ORPHA:275
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Frequent Giardia lamblia infestation, Recurrent otitis media, Alopecia total... OMIM:615577
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent viral infections, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Re... ORPHA:293978
Classic Mycosis Fungoides
Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Abnormality of the nail ORPHA:2584
H Syndrome
Alopecia, Hypertrichosis, Hypogonadism, Abnormal eyebrow morphology, Azoospermia, Psoriasiform de... ORPHA:168569
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... OMIM:241080
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... ORPHA:98813
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Pulmonary fibrosis, Recurrent respiratory infections, Sparse hair ORPHA:1839
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory insufficiency, Death in childhood, Death in infancy, Neonatal death, Respiratory fail... OMIM:620265
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Alopecia of scalp, Erythroderma OMIM:608649
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Filippi Syndrome
Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Frontal hirsutism,... OMIM:272440
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Absence of secondary sex characteristics, Decreased serum test... ORPHA:755
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Failure to thrive, Abnormality of the lymphatic system, Agammaglobulinemia,... ORPHA:47
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... OMIM:269840
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Paroxysmal Hemicrania
Rhinitis, Diabetes mellitus, Focal sensory seizure with olfactory features ORPHA:157835
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased... ORPHA:3464
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy OMIM:618806
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Palmar telangiectasia, Sparse body hair, Cutis marmorata, Pleural effusion, Absent eyel... ORPHA:69735
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Alopecia, Graves disease, Hypogonadism, Abnormality of the thyroid glan... ORPHA:3143
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Bleeding Disorder, Platelet-Type, 21
Alopecia, Recurrent viral infections, Eczematoid dermatitis, Psoriasiform dermatitis, Menorrhagia OMIM:617443
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Conjunctivitis, Recu... OMIM:613493
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Postnatal growth retardation, Decreased serum insulin-like growth factor 1... OMIM:618985
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure OMIM:619057
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Intrauterine growth retardation, Thick eyebrow, Long eyelashes in irreg... ORPHA:2963
Flynn-Aird Syndrome
Alopecia, Increased bone density with cystic changes, Alopecia of scalp, Osteoporosis, Increased ... OMIM:136300
Gand Syndrome
Sparse hair OMIM:615074
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Failure to thrive, Increased circulating IgE level, Lympho... ORPHA:277
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:181
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Type I diabetes mellitus, Failure to thrive, Increased circulating IgE level, Decreased... OMIM:304790
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Progeroid facial appearance, Reduced hair sulfur content, Tiger tail banding, Int... OMIM:300953
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Keutel Syndrome
Depressed nasal bridge, Alopecia, Underdeveloped nasal alae, Recurrent otitis media, Recurrent si... ORPHA:85202
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Alopecia Universalis
Alopecia universalis, Type I diabetes mellitus, Atopic dermatitis, Abnormality of the thyroid gla... ORPHA:701
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Anemia, Ovarian neoplasm, Mediastina... ORPHA:83469
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis, Recurrent bacterial infections OMIM:613502
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Anauxetic Dysplasia 2
Small nail, Intrauterine growth retardation, Nail dysplasia, Short stature, Sparse hair OMIM:617396
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse b... OMIM:305100
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia, Death in infancy ORPHA:157973
Christianson Syndrome
Cachexia, Thick eyebrow, Arthrogryposis multiplex congenita, Death in early adulthood ORPHA:85278
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia, Short stature, Elevated circulating creatine kinase concentration ORPHA:1933
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Intrauterine growth r... ORPHA:217346
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Short stature, Sparse eyebrow, Sparse hair OMIM:619989
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Omenn Syndrome
Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinoph... ORPHA:39041
Eem Syndrome
Absent eyebrow, Sparse scalp hair, Sparse body hair ORPHA:1897
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Weight loss, Anemia, Abnormality... ORPHA:33355
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Chronic sinusitis, Recurrent b... OMIM:612692
Cardiomyopathy, Dilated, 2H
Cardiorespiratory arrest, Neonatal death OMIM:620203
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa... OMIM:618048
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Premature adrenarche, Alopecia, Precocious puberty, Elevated circulating ... ORPHA:90795
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, A... ORPHA:2032
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Prematurely aged appearance, Distichiasis, Abnorma... ORPHA:1807
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Syndromic Diarrhea
Panhypogammaglobulinemia, Trichorrhexis nodosa, Lymphopenia, Intrauterine growth retardation, Thr... ORPHA:84064
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Nail dystrophy, Nail dysplasia, Cachexia, Anemia OMIM:175500
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Ectodermal dysplasia OMIM:273390
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:90117
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hyperc... OMIM:615830
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplas... OMIM:612843
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Intestinal lymphang... OMIM:620632
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Intrauterine growth retardation, Uncombable hair, Brittle hair... OMIM:614602
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Wide nasal bridge, Alopecia, Intrauterine growth retardation, Anteverted nares, Brittle hair, Sho... ORPHA:50812
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Alopecia, Type I diabetes mellitus, Increased circulating IgE level, Failure to ... ORPHA:37042
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Alopecia, Central adrenal insufficiency, Reduced subcutaneous adipose tiss... OMIM:612079
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Recurrent bronchitis, Recurrent sinu... OMIM:240500
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Alopecia, Rhizomelia, Epiphyseal stippling, Calcific stippling of infantile... OMIM:215100
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Respiratory insufficiency OMIM:614399
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Alopecia universalis, Alopecia, Male hypogonadism, Type I diabetes mellitus, ... OMIM:240300
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteomyelitis, Myositis, Peritoni... ORPHA:2552
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Sparse body hair, Short stature, Growth delay ORPHA:177
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Alopecia, Failure to thrive, Intrauterine growth retardation, Nail d... OMIM:616353
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair OMIM:616819
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Nicolaides-Baraitser Syndrome
Severe short stature, Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Thick nasal alae, L... ORPHA:3051
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Intellectual Developmental Disorder, Autosomal Recessive 5
Postnatal growth retardation, Thick eyebrow, Short stature, Sparse hair, Synophrys OMIM:611091
Trichothiodystrophy 4, Nonphotosensitive
Sparse hair, Small nail, Trichorrhexis nodosa, Nail dystrophy, Concave nail, Sparse eyelashes, Na... OMIM:234050
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Intrauterine growth retardation, Death in childhood, Sparse hair, Cutaneous photose... OMIM:610756
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Sézary Syndrome
Alopecia, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegaly, Abnormal immunoglobulin l... ORPHA:3162
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Scarring alopecia of scalp, Sparse scalp hair ORPHA:59303
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Elevat... ORPHA:100083
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis... OMIM:607594
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 27A
Hypoalbuminemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ... OMIM:209950
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Recurrent viral infections, Sepsis, Ec... ORPHA:443811
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis, Onychom... OMIM:614564
Complete Androgen Insensitivity Syndrome
Acne, Sparse pubic hair, Elevated circulating luteinizing hormone level, Increased serum estradio... ORPHA:99429
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Tetrasomy 12P
Short stature, Sparse eyebrow, Sparse hair, Cachexia ORPHA:884
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Chronic Actinic Dermatitis
Allergic rhinitis, Late onset atopic dermatitis, Erythroderma, Eczematoid dermatitis ORPHA:330064
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Alopecia, Osteopenia, Aplastic anemia, Growth delay, Fine hair, Prem... OMIM:613990
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Ty... OMIM:263000
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Rectal abscess, Intrauterine growth retardation, Al... ORPHA:436252
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Failure to thrive in infancy, Intrauterine growth retardation, Hip contracture, Cachexia OMIM:616801
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Depressed nasal bridge, Alopecia, Coarse hair, Intrauterine growth retardation, Anteverted nares,... ORPHA:75389
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Hirsutism, Nail dysplasia, Recurrent bacteri... OMIM:617475
Rodrigues Blindness
Short stature, Sparse hair, Fine hair OMIM:268320
Immunodeficiency 23
Allergic rhinitis, Bronchiectasis, Chronic mucocutaneous candidiasis, Recurrent respiratory infec... OMIM:615816
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:146110
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Chronic mucocu... ORPHA:3453
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Thick eyebrow, Generalized hirsutism... ORPHA:93473
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:2590
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Inguinal hernia, Cryptorchidism, ... OMIM:612541
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Elevated circulating luteinizing hormone level, Abs... ORPHA:251510
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Hyperekplexia 4
Respiratory failure OMIM:618011
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Galactose Epimerase Deficiency
Weight loss, Growth delay, Splenomegaly ORPHA:79238
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia, Hypergonadotropic hypogonadism ORPHA:298
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair OMIM:119580
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia,... OMIM:615387
Immunodeficiency 12
Recurrent viral infections, Growth delay, Recurrent aphthous stomatitis, Skin rash, Recurrent bac... OMIM:615468
Cardiocranial Syndrome, Pfeiffer Type
Abnormal hair whorl, Intrauterine growth retardation, Short stature, Sparse hair, Growth delay ORPHA:2872
Lamellar Ichthyosis
Aplasia/Hypoplasia of the eyebrow, Short stature, Recurrent respiratory infections, Sparse hair, ... ORPHA:313
Desbuquois Syndrome
Severe short stature, Abnormal eyelash morphology, Sparse hair, Disproportionate short-limb short... ORPHA:1425
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Failure to thrive, Intrauterine growth retardation, Cryptorchidism... OMIM:214110
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... ORPHA:911
Celiac Disease, Susceptibility To, 1
Alopecia, Type I diabetes mellitus, Rickets, Failure to thrive, Postnatal growth retardation, Dec... OMIM:212750
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Short stature, Sparse axillary hair, Sparse facial hair, Intrauterine growth retardation OMIM:608154
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Nail dystrophy, Premature graying of hair OMIM:620365
Activated Pi3K-Delta Syndrome