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,  Cux-1,  Cutl1

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 OMIM:618330
Autosomal Dominant Non-Syndromic Intellectual Disability
Short stature ORPHA:178469

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Candidiasis, Familial, 1
Alopecia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Abnormality of the endoc... OMIM:114580
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
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
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail OMIM:614928
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Abnormality of the nail, Severe short stature, Alopecia totalis, Death in childhood OMIM:302000
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood, Agammaglobulinemia OMIM:200900
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Immotile sperm, Short stature, Chronic sinusitis, Chronic rhi... OMIM:612650
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:104000
Ciliary Dyskinesia, Primary, 24
Infertility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Bilateral breast hypoplasia, Oligospermi... ORPHA:52901
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Chronic rhinitis, Immotile cilia, Male infertility, Recurrent respiratory infections OMIM:618801
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormal... ORPHA:499
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, ... OMIM:615500
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Sinusi... OMIM:615504
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:612649
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Sparse body hair, Bulbous nose, Decreased serum testost... OMIM:300869
Parana Hard-Skin Syndrome
Respiratory insufficiency OMIM:260530
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinus... OMIM:608647
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, ... OMIM:615444
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Respiratory insufficiency OMIM:617232
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Sinusi... OMIM:615505
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Immot... OMIM:614874
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, ... OMIM:614935
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Absent pubic hair, Anosmia, Decreased circulating gonadotropin concentration, Primary amenorrhea,... OMIM:614841
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Short stature, Recurrent bacterial infe... OMIM:616022
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Pear-shaped nose, Sparse hair, Widow's peak, Thick eyebrow, Short stature, Intrauterine growth re... OMIM:606242
Aredyld
Generalized hypotrichosis OMIM:207780
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor... ORPHA:251623
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Purulent... OMIM:601457
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the t... OMIM:603554
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Alopecia, Nail dys... OMIM:601705
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Ciliary Dyskinesia, Primary, 40
Infertility, Cough, Azoospermia, Rhinitis OMIM:618300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Paronychia, Alopecia of scalp, Decreased serum testosterone concentration, Short stature, Hypogon... OMIM:201100
Immunodeficiency 12
Growth delay, Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Ciliary Dyskinesia, Primary, 38
Infertility, Bronchiectasis, Cough, Chronic otitis media, Neonatal respiratory distress, Rhinitis... OMIM:618063
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... OMIM:602032
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Recurrent upper and lower respiratory tract infections, Rhinitis, Asthma, Sinu... ORPHA:70593
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis ORPHA:1008
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Oligomenorrhea, Decreased circulating luteinizing hormone level, Sparse a... OMIM:228300
Dyskeratosis Congenita, Autosomal Recessive 6
Intrauterine growth retardation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Thumb Deformity And Alopecia
Alopecia, Short stature OMIM:188150
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Sparse hair, Bulbous nose, Absent lower eyelashes, Distichiasis, Aged leon... OMIM:227260
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Ab... ORPHA:1818
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Yellow Nail Syndrome
Yellow nails, Dyspnea, Onycholysis, Bronchiectasis, Cough, Fingernail dysplasia, Rhinitis, Toenai... ORPHA:662
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Skin rash, Chronic hepatitis due to cryptosporidium infection, Recurrent fungal... ORPHA:572
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia ORPHA:1010
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Moynahan Syndrome
Sparse hair, Cachexia, Short stature, Alopecia, Hypogonadism ORPHA:2574
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Increased circulating gonadotropin level, Small nail, Hypergonadotropic hypogo... ORPHA:163971
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Hypothyroidism, Sparse scalp hair, Dystrophic toenail, Sparse and thin eyebro... ORPHA:1882
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Absence of... OMIM:273250
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Sparse axillary hair, Coarse hair, Fair hair, Spar... OMIM:278150
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Ciliary Dyskinesia, Primary, 37
Infertility, Wheezing, Goiter, Bronchiectasis, Hypothyroidism, Rhinorrhea, Chronic rhinitis OMIM:617577
Oliver-Mcfarlane Syndrome
Sparse hair, Long eyelashes, Severe short stature, Delayed puberty, Alopecia, Hypogonadotropic hy... OMIM:275400
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Alopecia, Chroni... OMIM:618282
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Oculotrichodysplasia
Trichodysplasia, Generalized hypotrichosis, Sparse axillary hair, Sparse scalp hair, Sparse pubic... OMIM:257960
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Short stature ORPHA:85274
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Abse... ORPHA:163976
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t... ORPHA:331235
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Depressed nasal bridge, Short stature, Sparse ... OMIM:616901
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:66628
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Chronic rhinitis, Sinusitis, Immotile ... OMIM:242680
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Ciliary dyskinesia, Nasal polyposis, Immotile sperm, Chro... OMIM:242670
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse hair, Abnormality of the nose, Hypoplastic nipples, Sparse scalp hair, Spar... OMIM:614941
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Chronic otitis media, Chronic rhin... OMIM:614017
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:179494
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Specific Granule Deficiency 2
Recurrent pneumonia, Recurrent otitis media, Hirsutism, Nail dysplasia, Recurrent bacterial infec... OMIM:617475
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, R... OMIM:616576
Deafness-Craniofacial Syndrome
Underdeveloped nasal alae, Alopecia, Wide nasal bridge OMIM:125230
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Decreased proportion of memory ... OMIM:615897
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Recurrent respira... OMIM:614679
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Hypogonadism, Fine h... ORPHA:202
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Recurrent respiratory infections,... OMIM:613502
Hurler-Scheie Syndrome
Generalized hirsutism, Rhinitis, Short stature ORPHA:93476
Hypotrichosis 6
Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Absent eyebrow, Thin nail, Short stature, Nail dystrophy OMIM:618625
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Ridged fingernail, Fingernail dysplasia, Severe short ... ORPHA:2251
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Bulbous nose, Absent eyelashes, Sparse lateral eyebrow, Disti... ORPHA:79133
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Schopf-Schulz-Passarge Syndrome
Small nail, Sparse hair, Poroma, Onycholysis, Ridged nail, Apocrine hidrocystoma, Thin nail, Narr... OMIM:224750
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Sparse facial hair, Absence of secondary sex cha... ORPHA:2232
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Respiratory insufficiency OMIM:617892
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Aredyld Syndrome
Abnormal dental enamel morphology, Craniofacial hyperostosis, Lipoatrophy, Intrauterine growth re... ORPHA:1133
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Heyn-Sproul-Jackson Syndrome
Intrauterine growth retardation, Sparse hair, Severe short stature OMIM:618724
Larynx Atresia
Respiratory insufficiency ORPHA:1202
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Lymphade... ORPHA:319552
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Asthma OMIM:147050
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, Absence of second... ORPHA:432
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormality of the periungual region, Bronchiectasis, Decreased serum insulin-like growth factor ... ORPHA:293978
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent viral infections, Pneumonia, Recurrent sinopulmonary infections, Rhiniti... ORPHA:486
Coffin-Siris Syndrome 3
Sparse hair, Hirsutism, Long eyelashes, Sparse scalp hair, Thick eyebrow, Hypertrichosis, Short s... OMIM:614608
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Splenomegaly, Patchy alopecia, Dystrophi... ORPHA:2930
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Bronchiectasis, Recurrent bacterial... OMIM:608957
Filippi Syndrome
Sparse hair, Underdeveloped nasal alae, Postnatal growth retardation, Wide nasal bridge, Hypertri... OMIM:272440
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Bloom Syndrome
Skin rash, Severe toxoplasmosis, Recurrent urinary tract infections, Pneumonia, Male infertility,... ORPHA:125
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Growth delay, Absent eyebrow, Sparse and thin eyebrow, Alopecia, S... ORPHA:2985
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Felty Syndrome
Pericarditis, Chronic otitis media, Recurrent urinary tract infections, Synovitis, Sinusitis, Epi... ORPHA:47612
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Weight loss, Abnormal B cell coun... ORPHA:100024
L-Ferritin Deficiency
Alopecia OMIM:615604
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Slow-growing hair, Nail dysplasia, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:129490
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Alopecia Antibody Deficiency
Sparse hair, Abnormal eyelash morphology, Short stature, Aplasia/Hypoplasia of the eyebrow, Spars... ORPHA:1006
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Bulbous nose, Short stature, Intrauterine growth retardation ORPHA:261483
Alopecia-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the eyebrow, Hypergonadotropic hypogonadism, Growth delay, Sparse scalp hai... ORPHA:2850
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... OMIM:307200
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Acrocyanosis, Atrichia, Growth delay, Pneumonia, Alopecia, Shor... ORPHA:1867
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Clouston Syndrome
Small nail, Onycholysis, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Growth delay, Scarring alopecia of scalp, Sparse body hair, Nail dystrophy ORPHA:79402
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Recurrent bacterial infections OMIM:607624
Quinquaud Folliculitis Decalvans
Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Recurrent skin in... ORPHA:346
49,Xxxyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Recurrent upper respiratory tract in... ORPHA:261534
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Growth delay, B lymphocytopenia, Death in childhood, Splenomegaly... OMIM:619164
Alpha-Heavy Chain Disease
Growth delay, Splenomegaly, Dysgammaglobulinemia, Alopecia, Anemia, Premature ovarian insufficien... ORPHA:100025
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Wide nasal base, Sparse hair, Broad nasal tip, Hypothyroidism, Alopecia, Short stature, Broad col... OMIM:617763
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Conjunctivitis, Asthma, Eczema, Recurrent skin infections OMIM:603165
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal congestion, Recurrent otitis media, Nasal polyposis, Chronic otit... ORPHA:244
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Recurrent otitis media, Hashimoto thyroiditis, Onychomycosis, Recurrent sinopu... OMIM:614468
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Short Bowel Syndrome
Sparse hair, Short stature ORPHA:2301
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Bleeding Disorder, Platelet-Type, 21
Recurrent viral infections, Menorrhagia, Alopecia, Eczema, Psoriasiform dermatitis OMIM:617443
Netherton Syndrome
Brittle scalp hair, Allergic rhinitis, Erythroderma, Sparse scalp hair, Recurrent infections, Bri... OMIM:256500
Pseudopelade Of Brocq
Abnormality of the nail, Abnormal hair morphology, Cheilitis, Sparse scalp hair, Alopecia, Aplasi... ORPHA:129
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Cleft ala nasi, Breast aplasia, Narrow nasal base... ORPHA:3044
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Growth delay, Thrombocytope... ORPHA:169079
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in females, Elevated circulating luteinizing hormone level, Decreased circula... ORPHA:90796
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Anosmia, Chronic otitis media, Pneumonia, Si... OMIM:244400
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 58
Seborrheic dermatitis, Cutaneous abscess, Bronchiectasis, Helicobacter pylori infection, Onychomy... OMIM:618131
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Absent eyebrow, Sparse scalp hair, Nail dysplasia, Sparse body... ORPHA:1809
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency OMIM:300717
Björnstad Syndrome
Hypogonadism, Brittle hair, Alopecia ORPHA:123
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal hair morphology, Premature graying of hair, Flexion contracture, Lipoatrophy, Lipodystro... ORPHA:1979
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Complete Androgen Insensitivity Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Elevated circulating luteinizing... ORPHA:99429
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Progeria-Short Stature-Pigmented Nevi Syndrome
Central sleep apnea, Hypergonadotropic hypogonadism, Recurrent viral infections, Insulin-resistan... ORPHA:2959
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Nail dysplasia, Brittle hair, Alopecia OMIM:104100
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Eosinophilopenia
Allergic rhinitis OMIM:131430
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Atelectasis, Chronic sinusitis... OMIM:300455
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Mental Retardation, Autosomal Recessive 5
Sparse hair, Underdeveloped nasal alae, Synophrys, Wide nasal bridge, Postnatal growth retardatio... OMIM:611091
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Alopecia, Inflammatory abnormality of the skin ORPHA:3406
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Supernumerary nipple, Sparse hair, Nail dystrophy OMIM:275450
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Sparse axillary hair, Sparse scalp hair, Sparse body ha... OMIM:613102
Juvenile Temporal Arteritis
Conjunctivitis, Allergic rhinitis ORPHA:26137
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Failure to thrive... ORPHA:337
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Trachyonychia, Recurrent otitis media, Recurrent sinu... OMIM:615577
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Adrenal insufficiency, Delayed puberty, Alopecia, Hypogonadism OMIM:612079
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Streak ovary, Primary a... ORPHA:168563
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair OMIM:146110
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Lessel-Kubisch Syndrome
Sparse pubic hair, Short stature, Premature graying of hair, Narrow nasal bridge OMIM:618681
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Brittle hair, Intrauterine growth retardation, Pili canaliculi, Woo... OMIM:614602
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Recurrent upper respira... ORPHA:99330
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Diabetes mellitus, Rhinitis, Rhinorrhea ORPHA:157835
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Ataxia-Telangiectasia
T lymphocytopenia, Abnormal hair morphology, Decreased proportion of CD4-positive helper T cells,... OMIM:208900
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Convex nasal ridge, Ridged nail, Alopecia OMIM:614564
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Anteverted nares, Fine hair OMIM:615278
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scalp hair, Sparse and ... OMIM:613573
Renpenning Syndrome
Growth delay, Thin eyebrow, Severe short stature, Abnormal hair laboratory examination, Cachexia,... ORPHA:3242
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Prematurely aged appearance, Sparse hair, Wide nasal bridge, Sparse latera... ORPHA:1807
Cerebellofaciodental Syndrome
Sparse hair, Laryngomalacia, Laryngeal stridor, Sparse and thin eyebrow, Short stature, Fine hair OMIM:616202
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Severe postnatal growth retardation, Severe short stature, Prominent nose OMIM:203550
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Low posterior hairline, Short stature, Absent facial hair ORPHA:2183
H Syndrome
Abnormal eyebrow morphology, Azoospermia, Bronchiectasis, Amenorrhea, Delayed puberty, Psoriasifo... ORPHA:168569
Dermoodontodysplasia
Trichodysplasia, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Sparse body hair ORPHA:1660
Mcdonough Syndrome
Cryptorchidism, Cachexia, Short stature, Synophrys ORPHA:2471
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Hyperconvex nail, Sparse axillary hair, Abnormality of nail color, Spar... ORPHA:189
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Hereditary Mucoepithelial Dysplasia
Sparse hair, Pulmonary fibrosis, Alopecia, Fine hair, Tracheoesophageal fistula, Recurrent respir... ORPHA:1839
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:275
Gand Syndrome
Sparse hair, Wide nasal bridge, Broad nasal tip OMIM:615074
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Mulibrey Nanism
Intrauterine growth retardation, Cachexia, Short stature ORPHA:2576
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Hirsutism, Primary amenorrhea, Synophrys, Thick eyebrow, Frontal balding,... ORPHA:247768
Wolman Disease
Bone-marrow foam cells, Growth delay, Adrenal insufficiency, Cachexia, Anemia, Splenomegaly, Adre... ORPHA:75233
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Cellulitis, Decreased specific anti-polysaccharide antibody ... OMIM:606367
Cholesterol Pneumonia
Cyanosis, Death in infancy, Pneumonia OMIM:215030
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Alopecia universal... ORPHA:2890
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Growth delay, Streak ovary, Insulin-resistant diabetes mellitus... ORPHA:3464
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Ectodermal dysplasia, Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiect... ORPHA:50944
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, B lymphocytopeni... ORPHA:277
Classic Mycosis Fungoides
Abnormality of the nail, Abnormal lymphocyte morphology, Alopecia, Splenomegaly, Lymphadenopathy ORPHA:2584
Erythrokeratodermia Variabilis
Abnormality of the nail, Abnormal hair morphology, Abnormal testis morphology, Weight loss, Short... ORPHA:317
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Ectodermal dysplasia, Bulbous nose OMIM:273390
Waardenburg Syndrome Type 3
Acrocyanosis, White hair, Tracheomalacia, Atelectasis, Thick eyebrow, Narrow nasal bridge ORPHA:896
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Absent bronchoalveolar surfactant-protein C, Intraalveolar phospholip... OMIM:610921
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Growth delay, Nail dysplasia, Erysipelas, Delayed puberty, Alopecia OMIM:615704
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Congenital Pulmonary Airway Malformation
Respiratory insufficiency ORPHA:2444
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Sparse and thin eyebrow, Brittle hair, Pili torti OMIM:602400
Leydig Cell Hypoplasia
Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Abse... ORPHA:755
Autoimmune Polyendocrinopathy Type 2
Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thyroid ... ORPHA:3143
Bazex Syndrome
Sparse hair, Underdeveloped nasal alae, Coarse hair, Trichoepithelioma, Trichorrhexis nodosa, Pil... OMIM:301845
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent bacterial infections, Recu... OMIM:613493
Woodhouse-Sakati Syndrome
Sparse hair, Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Elevat... OMIM:241080
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Thyroiditis, Postnatal growth retardation, Delayed ... OMIM:618985
Rodrigues Blindness
Sparse hair, Ectodermal dysplasia, Short stature, Fine hair, Narrow nasal bridge OMIM:268320
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Ost... OMIM:608184
Maculopapular Cutaneous Mastocytosis
Dyspnea, Rhinitis ORPHA:79457
Progeroid Facial Appearance With Hand Anomalies
Sparse hair, Progeroid facial appearance, Prominent superficial veins, Reduced subcutaneous adipo... OMIM:602249
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary, Alopecia OMIM:241090
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Growth delay, Neutropenia, Hypopl... OMIM:612541
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Mild short stature, Short nose, Widow's peak, Wid... OMIM:305400
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Brittle hair, Sparse hair, Short stature ORPHA:1883
Flynn-Aird Syndrome
Primary adrenal insufficiency, Bone cyst, Abnormality of the thyroid gland, Cachexia, Alopecia, T... ORPHA:2047
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Premature adrenarche, El... ORPHA:90795
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Waardenburg Syndrome, Type 4B
White eyebrow, Premature graying of hair, Heterochromia iridis, White eyelashes, White forelock, ... OMIM:613265
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Fine hair, Abnormal fingernail m... ORPHA:248
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Progeroid Syndrome, Petty Type
Prematurely aged appearance, Abnormality of the nail, Sparse hair, Abnormal hair morphology, Long... ORPHA:2963
Olmsted Syndrome 1
Sparse hair, Nail dysplasia, Subungual hyperkeratosis, Alopecia universalis, Nail dystrophy OMIM:614594
Cornelia De Lange Syndrome 2
Low anterior hairline, Highly arched eyebrow, Anteverted nares, Hirsutism, Long eyelashes, Synoph... OMIM:300590
X-Linked Agammaglobulinemia
Cellulitis, Neutropenia, Weight loss, Thrombocytopenia, Recurrent cutaneous abscess formation, Ag... ORPHA:47
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl, Growth delay, Wide nasal bridge, Short stature, Intrauterine gr... ORPHA:2872
Trichothiodystrophy 5, Nonphotosensitive
Sparse hair, Progeroid facial appearance, Tiger tail banding, Slow-growing hair, Brittle hair, Sh... OMIM:300953
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Nail dystrophy OMIM:618806
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Eem Syndrome
Sparse scalp hair, Sparse body hair, Absent eyebrow ORPHA:1897
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Sparse hair, Hirsutism, Long eyelashes, Thick eyebrow, Anteverted nares OMIM:616819
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Increased bone mineral density, Alopeci... OMIM:136300
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Short nose, Growth delay, Nail dysplasia, Concave nail, Brittle hair, Ab... OMIM:234050
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Sparse hair, Long eyelashes, Severe short stature, Excessive wrinkled skin... ORPHA:3051
Porphyria Cutanea Tarda
Onycholysis, Alopecia, Facial hypertrichosis OMIM:176100
Keutel Syndrome
Underdeveloped nasal alae, Recurrent otitis media, Recurrent sinusitis, Alopecia, Short stature, ... ORPHA:85202
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pattern of respiration, Restrictive ventilatory defect, Respiratory insufficiency, Cough ORPHA:724
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Death in infancy, Cachexia ORPHA:157973
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Bulbous nose, Wide nasal bridge, Aplasia/Hypoplasia of the eyebrow, Intrauterine gro... ORPHA:261304
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Absent eyelashes, Underdeveloped nasal alae, Respiratory distress, Sh... OMIM:305100
Netherton Syndrome
Abnormal hair morphology, Emphysema, Recurrent respiratory infections, Sparse scalp hair, Sparse ... ORPHA:634
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Slow-growing hair, Sparse eyelashes OMIM:618535
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Growth delay, Death in infancy, Death in childhood, Intrauterine growth retardation,... OMIM:610756
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Pneumonia, Abnormality of the parathyroid gland, Sinusit... ORPHA:2552
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology, Severe short stature, Anteverted nares, Disproportionat... ORPHA:1425
Christianson Syndrome
Thick eyebrow, Arthrogryposis multiplex congenita, Cachexia, Death in early adulthood ORPHA:85278
Menkes Disease
Intrauterine growth retardation, Sparse hair, Short stature OMIM:309400
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections OMIM:613779
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinu... OMIM:607594
Rosselli-Gulienetti Syndrome
Nail dysplasia, Sparse and thin eyebrow, Progressive hypotrichosis, Sparse eyelashes OMIM:225000
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Sparse hair, Growth delay, Nail dysplasia, Sparse lateral eyebrow, Sparse or abse... ORPHA:217346
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Bronchiectasis OMIM:616481
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Plantar telangiectasia, Pleural effusion, Absent eyebrow, Sparse scalp hair, Cu... ORPHA:69735
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Hypothyroidism, Erectile dysfunction, Decreased serum testosterone conce... ORPHA:465508
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair texture, Progressive h... OMIM:225060
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Weight loss, Cachexia, Anemia, Testicular neoplasm, Mediastinal lymphadenopathy... ORPHA:83469
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Syndromic Diarrhea
Hypopigmentation of hair, Thrombocytosis, Hypothyroidism, Lymphopenia, Uncombable hair, Panhypoga... ORPHA:84064
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Abnormal dental enamel morphology, Hypoplastic toenails, Fingernail dysplasia, Sparse scalp hair,... ORPHA:2325
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Co... OMIM:240500
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair, Short stature OMIM:617396
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Autoimmune hemolytic anemia, Omphalocele, Hypoplasia of the thymus, Intrauteri... OMIM:243150
Blepharocheilodontic Syndrome 1
Small nail, Sparse hair, High anterior hairline, Choanal atresia, Distichiasis OMIM:119580
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Flexion... OMIM:215100
Ectodermal Dysplasia/Skin Fragility Syndrome
Dystrophic fingernails, Sparse hair OMIM:604536
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Growth delay, Short stature, Alopecia, Sparse body hair ORPHA:177
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Elevated circulating creatine kinase concentration, Cachexia, Short stature ORPHA:1933
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hyp... ORPHA:39041
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Multinodular goiter OMIM:618373
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur... OMIM:209920
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Cryptorchidism, Premature graying of hair, Growth delay, Intrauterine growth retard... OMIM:613990
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Scarring alopecia of scalp, Nail dysplasia, Conjunctivitis, Keratitis, Sparse and t... OMIM:612843
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Sparse hair, Absent eyelashes, Absent eyebrow, Toenail dysplasia, Alopecia OMIM:607823
Pgm3-Cdg
Chronic sinusitis, Esophagitis, Osteomyelitis, Cutaneous abscess, Allergic rhinitis, Recurrent fu... ORPHA:443811
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Wide nasal bridge, Brittle hair, Alopecia, Short stature, Intrauterine growth retardation, Anteve... ORPHA:50812
Ovarian Fibrothecoma
Peritonitis, Pleural effusion, Hirsutism, Metrorrhagia, Abnormal circulating hormone concentratio... ORPHA:314478
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Increased circulating cortisol level, Hirsutism, Primary hypercortisolism, Increase... OMIM:615830
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating parathyroid hormone level, Male hypogonadism, Iridocyclitis, Chronic oral c... OMIM:240300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Functioning Gonadotropic Adenoma
Panhypopituitarism, Abnormality of the menstrual cycle, Increased circulating gonadotropin level,... ORPHA:91348
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Premature graying of hair, Heterochromia iridis, Synophrys, White eyelas... OMIM:193510
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Immunodeficiency 23
Allergic rhinitis, Recurrent staphylococcal infections, Persistent EBV viremia, Recurrent Staphyl... OMIM:615816
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Cachexia, Alopecia, Anemia, Nail dystrophy OMIM:175500
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Postnatal growth retardation, Bulbous nose, Sparse scalp hair ORPHA:2324
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Elevated circulating luteinizing hormone level, Increased circula... ORPHA:251510
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Respiratory failure, Neonatal respiratory distress ORPHA:168486
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
2Q32Q33 Microdeletion Syndrome
Sparse hair, Anteverted nares, Growth delay, Short stature, Prominent nasal bridge, Fine hair ORPHA:251019
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decrea... ORPHA:60033
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Distichiasis, Short st... OMIM:211370
Hyperekplexia 4
Respiratory failure OMIM:618011
Chronic Actinic Dermatitis
Erythroderma, Allergic rhinitis, Eczema, Late onset atopic dermatitis ORPHA:330064
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Abnormality of the nail, Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Depressed nasal bridge OMIM:129540
Immunodeficiency 55
Postnatal growth retardation, Recurrent infections, Short stature, Intrauterine growth retardatio... OMIM:617827
Tetrasomy 12P
Cachexia, Sparse and thin eyebrow, Sparse hair, Short stature ORPHA:884
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Increased serum serotonin, Weight... ORPHA:100083
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse hair, Absent eyelashes, Facial telangiectasia in butterfly midface distribution, Absent ey... OMIM:137940
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Alopecia, Splenomegaly, Abnormal immunoglobulin ... ORPHA:3162
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Cachexia, Severe short stature OMIM:610965
Acrofacial Dysostosis, Palagonia Type
Low anterior hairline, Sparse hair, Bulbous nose, Sparse lateral eyebrow, Short stature, Thin eye... ORPHA:1787
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Sparse hair, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Absent eyebr... ORPHA:436252
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Noonan Syndrome 6
Sparse hair, Curly hair, Growth delay, Wide nasal bridge, Short stature, Long eyebrows, Low poste... OMIM:613224
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Weight loss, Histiocytosis, Increa... OMIM:209950
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormal toenail morphology, Abnormality of the nail, Alopecia ORPHA:494
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia OMIM:242300
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Hypohidrotic ectodermal dysplasia, Sparse and thin eyebrow, Depressed nasal bridge, ... OMIM:224900
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Rhizomelia, Sparse hair OMIM:183849
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Underdeveloped nasal alae, Anhidrotic ... OMIM:129400
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:911
Neuralgic Amyotrophy
Acrocyanosis, Short stature ORPHA:2901
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Sparse ... ORPHA:59303
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Coarse hair, Brittle hair, Short stature, Alopecia, Intrau... ORPHA:75389
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Camptodactyly, Hypoplasia of the thymus, Death in childhood, Failure to thrive, J... OMIM:214110
Cranioectodermal Dysplasia