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Gene: Elovl3 MGI:1195976

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ELOVL fatty acid elongase 3
Synonyms:
Cig30,  elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3,  CIN-2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Elovl3 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Elovl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Book Syndrome
Premature graying of hair OMIM:112300
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy... ORPHA:505
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... ORPHA:2722
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Recurrent skin infections, Edema, Pruritus ORPHA:345
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Waardenburg Syndrome, Type 2F
Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White for... OMIM:619947
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Abnormality ... ORPHA:79394
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... OMIM:617294
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Irre... ORPHA:2897
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Polyhydramnios, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of... OMIM:608649
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism ORPHA:2297
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop... OMIM:618625
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, Premature graying of hair, Whi... ORPHA:895
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... ORPHA:499
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini... ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm... OMIM:242300
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Hypohidrosis, Nail dystrophy, Erythroderma,... ORPHA:100976
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Abnormal fingernail morphology, Maculopap... ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hypohidros... OMIM:602400
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy ORPHA:79503
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... OMIM:256500
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Lamellar Ichthyosis
Pruritus, Dehydration, Hyperkeratosis, Abnormality of the nail, Erythroderma, Sparse hair, Chroni... ORPHA:313
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Ichthyosis With Confetti
Pruritus, Palmoplantar hyperkeratosis, Hypoplastic nipples, Erythroderma, Hypertrichosis OMIM:609165
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Pru... ORPHA:79399
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow OMIM:606242
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis OMIM:613576
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Palmoplantar hyperhidrosis, Erythroderma OMIM:270300
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Pruritus, Palmoplanta... ORPHA:89838
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Periodontitis, Sparse body hai... ORPHA:1008
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia ORPHA:2574
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Bazex-Dupre-Christol Syndrome
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoep... OMIM:301845
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... ORPHA:346
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Linear Atrophoderma Of Moulin
Inflammatory abnormality of the skin, Linear hyperpigmentation, Pruritus ORPHA:140933
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Ridged fingernail, Hypopigmented skin patches, Palmoplantar keratoderma, Fingernail dys... ORPHA:2251
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Eczema, Hypohidrosis, Abnormality of skin pigmentation, Sparse ha... ORPHA:1810
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Sézary Syndrome
Alopecia, Edema, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Irregular hype... ORPHA:3162
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse... OMIM:604536
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Ptosis ORPHA:1067
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Ulerythema Ophryogenesis
Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow ORPHA:3406
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Hypohidrosis, Erythroderma OMIM:615023
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis OMIM:612281
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Palmoplantar keratoderma, Nail ... ORPHA:2890
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidro... OMIM:617337
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Ectodermal Dysplasia, Trichoodontoonychial Type
Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,... ORPHA:1818
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Erythroderma OMIM:618840
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,... ORPHA:330064
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma ORPHA:312
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Pustule ORPHA:222
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Decreased response to growth hormone stimulation test, Long eyeb... OMIM:275400
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails OMIM:242150
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... ORPHA:79402
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma OMIM:615022
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Obesity And Hypopigmentation
Red hair OMIM:620195
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Edema, Pruritus, Hypopigmented skin patches, Hyperkeratosis, Irregul... ORPHA:2584
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Fragile nails, Keratoconjunctivitis sicca... OMIM:601675
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Hemifacial Atrophy, Progressive
Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis OMIM:141300
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Aredyld
Generalized hypotrichosis OMIM:207780
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma OMIM:604777
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... OMIM:167210
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Patchy palmoplantar hyperke... ORPHA:317
Omenn Syndrome
Alopecia, Pneumonia, Edema, Pruritus, Thyroiditis, Erythroderma, Hypothyroidism, Aplasia/Hypoplas... ORPHA:39041
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Gen... ORPHA:2221
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retin... ORPHA:3363
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Abnormal hair morphology, ... ORPHA:894
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... ORPHA:79133
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia OMIM:212360
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperkeratosis, Palmopla... OMIM:148700
Copper Deficiency, Familial Benign
Curly hair, Early balding, Seborrheic dermatitis OMIM:121270
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Lelis Syndrome
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hy... ORPHA:140936
Dermoodontodysplasia
Sparse scalp hair, Melanocytic nevus, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Toenai... ORPHA:1660
Pachydermoperiostosis
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... ORPHA:2796
Hawkinsinuria
Sparse hair, Hypothyroidism, Fine hair ORPHA:2118
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Hyperkeratosis, Freckling, Pili torti ORPHA:1573
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Abnormal fingernail morphology, Severe periodontitis, Recu... ORPHA:678
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Profuse pigmented skin lesions, Erythroderma ORPHA:280785
Porphyria Cutanea Tarda, Type I
Eczema, Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Hypothyroidism OMIM:304790
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... ORPHA:1433
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Harlequin Ichthyosis
Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Sparse body hair ORPHA:85274
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... ORPHA:202
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the ... ORPHA:181
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ... ORPHA:90280
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... OMIM:612843
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Palmoplant... OMIM:308800
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e... OMIM:257980
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hypopigmented skin patches, Hepatitis, Hyperk... ORPHA:525
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Patchy alopecia, Chronic oral candidi... OMIM:606367
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Paronychia, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, W... OMIM:615821
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas OMIM:615704
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Fine hair, Abnormality of skin pigmentation, Hyperkeratosis, Kera... ORPHA:1806
Bazex Syndrome
Parakeratosis, Edema, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... ORPHA:166113
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Orthokeratosis, ... OMIM:607626
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Eczema, Chronic mucocutaneous candidiasis, Pedal edema, Hypohidrosis, Inflammation... ORPHA:98813
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, H... ORPHA:238468
Waardenburg Syndrome, Type 3
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... OMIM:148820
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Kid Syndrome
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... ORPHA:477
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Synophrys, Hypopigmented skin... ORPHA:3440
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ... ORPHA:3051
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Decreased testicular size, Sparse body hair ORPHA:261483
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype... ORPHA:79395
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Hypohidrosis, P... ORPHA:158668
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... ORPHA:69735
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Epicanthus, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Ameloonychohypohidrotic Syndrome
Hypohidrosis, Onycholysis, Seborrheic dermatitis OMIM:104570
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Tubulointerstitial nephritis... ORPHA:139402
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar keratoderma, Palmoplantar hype... ORPHA:659
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... ORPHA:302
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma OMIM:609180
Waardenburg Syndrome Type 3
Telecanthus, White hair, Blepharophimosis, Downslanted palpebral fissures, Thick eyebrow ORPHA:896
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar kera... OMIM:615726
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Ptosis ORPHA:53271
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ... OMIM:308300
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... OMIM:618282
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair OMIM:302960
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,... ORPHA:1807
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Oligohydramnios OMIM:616854
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Palmoplantar hyperkeratosis, Hyperhidrosis, Arthritis, Eczematoid dermatitis OMIM:259100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperhidrosis, Acne, Seborrheic dermatitis OMIM:614441
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Hyperkeratosis, Palmopla... OMIM:242100
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mu... ORPHA:3214
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma ORPHA:169160
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Blepharitis, Abnormality of the ... ORPHA:254478
Intellectual Developmental Disorder, Autosomal Recessive 5
Sparse hair, Synophrys, Eczema, Thick eyebrow OMIM:611091
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic... ORPHA:3253
Gand Syndrome
Sparse hair OMIM:615074
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Eczema, Recurrent skin inf... OMIM:308205
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis OMIM:253260
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Erythroderma ORPHA:169154
Trichohepatoenteric Syndrome 2
Brittle hair, Chronic hepatitis, Uncombable hair, Colitis, Sparse hair, Woolly hair, Trichorrhexi... OMIM:614602
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal... OMIM:150400
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Pedal edema, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnor... ORPHA:247353
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... ORPHA:1028
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair ORPHA:1897
Omenn Syndrome
Alopecia, Hypoplasia of the thymus, Pneumonia, Erythroderma OMIM:603554
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Lymphedema, Hypoplastic ... ORPHA:2930
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair, Periorbital hyperpigment... OMIM:224900
Ifap Syndrome 2
Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ... OMIM:619016
Noonan Syndrome 6
Curly hair, Long eyebrows, Edema, Polyhydramnios, Cryptorchidism, Low posterior hairline, Multipl... OMIM:613224
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Oligohydramnios ORPHA:261304
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs... OMIM:148210
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Hypohidrosis, Hyperkeratosis, Sparse hair, Abnormal toenail morphology ORPHA:1005
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism OMIM:273390
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... OMIM:616295
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy OMIM:614204
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconjunctivitis s... OMIM:234050
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Filippi Syndrome
Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis OMIM:272440
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair ORPHA:1264
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Diffuse Cutaneous Mastocytosis
Pruritus, Peau d'orange, Mixed hypo- and hyperpigmentation of the skin, Erythroderma ORPHA:79456
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, ... OMIM:305100
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Brittle Cornea Syndrome 1
Red hair, Epicanthus OMIM:229200
Fg Syndrome 3
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair OMIM:300406
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy OMIM:607936
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Conj... OMIM:106260
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hyperhidrosis, Joint swelling, Sparse hair ORPHA:96123
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... ORPHA:79151
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Naxos Disease
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hyperhidrosis, Acne, Seborrheic dermatitis OMIM:167100
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
Squalene Synthase Deficiency
Epicanthus, Abnormality of hair pigmentation OMIM:618156
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Leukonychia OMIM:617525
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Myositis, Skin rash, Pustule, Nail dystrophy, Periungual erythema,... OMIM:615934
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Hypohidrosis, Sparse hair ORPHA:2316
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Toenail dysplasia, Pedal edema, Hydrocele testis... ORPHA:79452
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair ORPHA:59303
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Erythroderma OMIM:615895
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis OMIM:610768
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e... ORPHA:1071
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Hypohidrosis ORPHA:884
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis ORPHA:540
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Congenital exfoliative erythroderma, Ec... ORPHA:33364
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
Waardenburg Syndrome, Type 1
Telecanthus, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature ... OMIM:193500
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Bone Marrow Failure Syndrome 3
Eczema, Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Hypomelanotic macule, Nail dystroph... OMIM:617052
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Adiposis Dolorosa
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Xerostomia, Arthritis, Hypoth... ORPHA:36397
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Bronchiectasis, Aspiration pneumonia, Oligohydramnios OMIM:618253
2Q32Q33 Microdeletion Syndrome
Sparse hair, Decreased testicular size, Fine hair ORPHA:251019
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Sparse body ... OMIM:300869
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar ke... ORPHA:1010
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia ORPHA:90156
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Eczema, Hyperconvex nail OMIM:619721
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Cryptorchidism, Hypothyroidism, Fine hair OMIM:616817
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Cryptorchidism, Hyperkeratosis, Loose anag... OMIM:607721
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Facial ede... ORPHA:2909
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Hyperpigmentation o... ORPHA:90158
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nasolacrimal duct obstruction,... OMIM:103285
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl, Cryptorchidism ORPHA:2872
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin OMIM:309400
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Generalized hyperpigmentation, Lymphedema, Abnormal eyelash morp... ORPHA:1340
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atopic dermatiti... OMIM:115150
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... ORPHA:83617
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy OMIM:616353
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Low anterior hairline, Fine hair, Sparse hair, Hypothyroidism ORPHA:391408
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ... ORPHA:1775
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Hypothyroidism OMIM:617763
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands, Lymphedema OMIM:300291
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr... OMIM:613451
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, Macroorchidism, Polycystic ovaries ORPHA:284180
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma, Seborrheic dermatitis ORPHA:276280
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Angioedema, Chronic hepatiti... ORPHA:3260
Noonan Syndrome 14
Curly hair, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperhidrosis... OMIM:619745
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Telecanthus, Widow's peak, Upslanted palpebral fissure, Coars... ORPHA:1974
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair OMIM:617883
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... OMIM:190350
Agel Amyloidosis
Edema, Pruritus, Xerostomia, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystrophy, Sparse... ORPHA:85448
Koolen-De Vries Syndrome
Hypopigmentation of hair, Epicanthus, Abnormality of hair texture, Upslanted palpebral fissure, B... ORPHA:96169
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar... ORPHA:217346
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Complete Androgen Insensitivity Syndrome
Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchid... ORPHA:99429
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Pigmentary retinopathy, Polycystic ovaries OMIM:268020
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Nai... ORPHA:436252
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, P... ORPHA:163746
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... OMIM:129900
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Facial edema, Chei... ORPHA:293173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Myositis, Psoriasiform dermatitis, Eczema, Pneumonia, Osteomyelitis, Recurrent skin inf... ORPHA:37042
Joubert Syndrome 37
Sparse hair, Cryptorchidism, Decreased testicular size OMIM:619185
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Retinal pigment epithelial mottling OMIM:614105
Reactive Arthritis
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... ORPHA:29207
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Fine hair, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma OMIM:617425
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Marshall Syndrome
Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Hypohidrosis, Sparse hair ORPHA:560
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Cryptorchidism, Decreased testicular size, Thick eyebrow ORPHA:127
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Sparse scalp hair, Hypohidrosis, Aplasia of the sweat glands, Sparse hair OMIM:612132
Macs Syndrome
Alopecia, Palpebral edema, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Recurrent aphthous sto... OMIM:613075
Letterer-Siwe Disease
Stomatitis, Seborrheic dermatitis OMIM:246400
Chromosome 5P13 Duplication Syndrome
Sparse hair, Low posterior hairline OMIM:613174
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Sparse body hair ORPHA:2234
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis, Hypopigmentation ... ORPHA:454831
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Interst... OMIM:127550
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... OMIM:617321
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Hyperpigmentation of the skin, Alopecia totalis, Facial edema, Cryptorchi... ORPHA:221008
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Ascites, Hypoplastic fing... ORPHA:974
Transketolase Deficiency
Conjunctivitis, Uveitis, Seborrheic dermatitis ORPHA:488618
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Eczema, Thick eyebrow, Seborrheic dermatitis ORPHA:369950
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Cryptorchidism OMIM:219150
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Palpebral edema, Pyelonephritis, Hypohidrosis, Breast aplasia, Sp... ORPHA:2036
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Polyhydramnios, Cryptorchidism, Synophrys, Hirsutism... OMIM:615485
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... ORPHA:294023
Leprosy
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Uveitis, Hypohidrosis, Hyperkeratos... ORPHA:548
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... OMIM:258360
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Scarf Syndrome
Sparse hair, Cryptorchidism, Hypoplastic nipples, Low posterior hairline ORPHA:3134
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Anhidrosis, Eczema, Thin nail OMIM:617799
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ectropion, Ocular albinism, Iris hypopigmentation ORPHA:2719
Mandibuloacral Dysplasia
Sparse hair, Abnormality of skin pigmentation, Alopecia, Hypoplastic fingernail ORPHA:2457
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair OMIM:613026
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, Mottled pigmentation OMIM:608612
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,... ORPHA:2108
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan... ORPHA:2710
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot OMIM:250410
Premature Aging Syndrome, Penttinen Type
Sparse hair, Hyperkeratosis, Corneal stromal edema, Palmoplantar hyperkeratosis OMIM:601812
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... OMIM:268130
Hamamy Syndrome
Hypoparathyroidism, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Spa... OMIM:611174
Scalp-Ear-Nipple Syndrome
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Fine hair, Pyelonephritis, Hypohidrosis... OMIM:181270
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Polyhydramnios, Cryptorchidism, Low posteri... OMIM:617506
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... ORPHA:2232
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Hyperpigmentation of the skin, Alopecia totalis, Facial edema, Cryptorchi... ORPHA:221016
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Eczema, Synophrys, Sparse hair, Toenail dysplasia, Chronic otitis media, Hirsutism OMIM:300966
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Polyhydramnios, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot,... OMIM:222470
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... ORPHA:50814
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair OMIM:312830
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Cryptorchidism, Low anterior hairline, Low p... OMIM:601358
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... OMIM:608156
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Seborrheic dermatitis, Hydrops fetalis, Abnormality of skin pigmentation, Small nail OMIM:300868
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Acne, Polyhydramnios, Seborrheic dermatitis, Cryptorchidism,... ORPHA:567
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Recurrent pneumonia OMIM:616449
Sim1-Related Prader-Willi-Like Syndrome
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Down Syndrome
Sparse hair, Hypothyroidism ORPHA:870
Hawkinsinuria
Sparse hair OMIM:140350
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior... ORPHA:233
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ascites, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Congenital Disorder Of Glycosylation, Type Iia
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism OMIM:212066
Prader-Willi Syndrome
Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Frontal u... OMIM:176270
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Polyhydramnios, Lymphedema, Cryptorchidism, Fine hair, Low posterior hairl... OMIM:613563
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... OMIM:230740
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Cafe-au-lait spot, Hypothyroidism, Decreased response to growth hormone stimulation ... OMIM:614114
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Cryptorchidism, Fine hair OMIM:614438
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair, Cryptorchidism, Hypothyroidism OMIM:616541
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Weaver Syndrome
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Melanocytic nevus, Sparse... OMIM:277590
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair ORPHA:251028
Vici Syndrome
Hypopigmentation of hair, Epicanthus, Albinism, Ocular albinism, Hypopigmentation of the skin, Pt... OMIM:242840
Glass Syndrome
Sparse hair, Long eyelashes, Nail dysplasia OMIM:612313
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Recurrent pneumonia, Fine ha... OMIM:234100
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... ORPHA:98754
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Stellate ... ORPHA:177907
Stuve-Wiedemann Syndrome 1
Sparse hair, Hyperhidrosis, Blotching pigmentation of the skin, Oligohydramnios OMIM:601559
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Edema of the dorsum of feet, Edema of the dorsum of hands, Seborrheic dermatitis OMIM:274000
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails OMIM:164200
Cranioectodermal Dysplasia 3
Sparse hair, Broad nail, Short nail, Fine hair OMIM:614099
Chime Syndrome
Sparse hair, Hyperkeratosis, Fine hair ORPHA:3474
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... ORPHA:98793
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis ORPHA:363618
Magel2-Related Prader-Willi-Like Syndrome
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... ORPHA:177901
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail OMIM:614813
White-Sutton Syndrome
Sparse hair OMIM:616364
Teebi-Shaltout Syndrome
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair OMIM:272950
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair, Chronic otitis media, Exocrin... ORPHA:2750
Goldberg-Shprintzen Syndrome
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow OMIM:609460
Craniolenticulosutural Dysplasia
Brittle hair, Cryptorchidism, Coarse hair, Forehead hyperpigmentation, Sparse hair OMIM:607812
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... ORPHA:920
Prader-Willi Syndrome
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Melanoc... OMIM:602535
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Restrictive Dermopathy
Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ... ORPHA:1662
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Polyhydramnios, Sparse eyebrow, Congenital hypothyroidism, ... OMIM:620186
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hydrocele testis, Hypoplastic nipp... OMIM:280000
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse body hair, Decreased testicula... ORPHA:432
Digeorge Syndrome
Parathyroid agenesis, Acne, Seborrheic dermatitis, Recurrent pneumonia, Parathyroid hypoplasia, H... OMIM:188400
Mucolipidosis Ii Alpha/Beta
Brittle hair, Palpebral edema, Sparse eyebrow, Recurrent pneumonia, Recurrent otitis media, Spars... OMIM:252500
Opitz-Kaveggia Syndrome
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair OMIM:305450
Cerebellar-Facial-Dental Syndrome
Sparse hair, Cryptorchidism, Sparse eyebrow, Fine hair ORPHA:444072
Lysinuric Protein Intolerance
Sparse hair, Pancreatitis, Fine hair OMIM:222700
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Cryptorchidism, Gout OMIM:300661
Atypical Werner Syndrome
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ... ORPHA:79474
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Cockayne Syndrome B
Anhidrosis, Dry hair, Abnormal hair morphology, Cryptorchidism, Abnormality of skin pigmentation,... OMIM:133540
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair, Osteomyelitis ORPHA:565
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... ORPHA:95455
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Sparse eyebrow OMIM:244450
Cockayne Syndrome A
Anhidrosis, Dry hair, Cryptorchidism, Retinal pigment epithelial mottling, Abnormality of skin pi... OMIM:216400
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Polyhydramnios, Sparse e... OMIM:619841
Cranioectodermal Dysplasia 2
Sparse eyelashes, Cholangitis, Polyhydramnios, Sparse eyebrow, Recurrent pneumonia, Hydrops fetal... OMIM:613610
De Barsy Syndrome
Sparse hair, Cryptorchidism ORPHA:2962
Cranioectodermal Dysplasia 1
Slow-growing hair, Thin nail, Short nail, Fine hair, Tubulointerstitial nephritis, Sparse hair OMIM:218330
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Sparse hair, Cryptorchidism, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:620005
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperkeratosis, S... OMIM:210710
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse hair, Nail dystrophy, Sparse eyebrow, Palmoplantar hyperkeratosis OMIM:619127
Orofaciodigital Syndrome I
Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair OMIM:311200
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Polyhydramnios, Pseudohypoparathyroidism, Sparse hair, Frontal hirsutism OMIM:617157
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Ptosis, Abnormal eyelash morphology, Synop... OMIM:619488
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Epicanthus, Abnormal eyelash morphology, Upslanted palpebral fissure, D... ORPHA:818
Cartilage-Hair Hypoplasia
Sparse hair, Abnormality of retinal pigmentation, Sparse eyebrow ORPHA:175
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ... ORPHA:90796
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Decreased testicular size, Fine hair OMIM:241080
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Hyperhidrosi... OMIM:150230
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Polyhydramnios, Concave nail, Fragile nails, Sparse hair, ... OMIM:218040
Myhre Syndrome
Pericardial effusion, Cryptorchidism, Fine hair, Sparse hair, Thick eyebrow OMIM:139210
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Cryptorchidism, Reticu... OMIM:305600
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair OMIM:619934
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Pigmentary retinopathy, Recurrent pancreatitis, Sparse hair, Pleural effusion OMIM:606721
Roberts Syndrome
Sparse hair, Cryptorchidism, Polyhydramnios ORPHA:3103
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Cryptorchidism, Anterior pituitary hypoplasia OMIM:151050
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Hyperthyroidism, Recurrent skin infections, Decreased response to growth hormo... ORPHA:3455
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail OMIM:200110
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair ORPHA:2636
Renpenning Syndrome 1
Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow OMIM:309500
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Cryptorchidism, Nail dysplasia OMIM:616682
Neurocardiofaciodigital Syndrome
Sparse hair, Sparse eyebrow OMIM:619869
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Edema of the dorsum of feet, Sparse eyelashes, Anhidrosis, Supernume... OMIM:601803
Branchiooculofacial Syndrome
Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo... OMIM:113620
Wrinkly Skin Syndrome
Sparse hair, Cryptorchidism, Short nail, Fragile nails OMIM:278250
Menke-Hennekam Syndrome 1
Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow OMIM:618332
Primrose Syndrome
Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Hypot... OMIM:259050
Wrinkly Skin Syndrome
Sparse hair, Cryptorchidism ORPHA:2834
Roberts-Sc Phocomelia Syndrome
Sparse hair, Cryptorchidism, Cafe-au-lait spot, Polyhydramnios OMIM:268300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Elovl3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Elovl3.

No publications found that use IMPC mice or data for Elovl3.

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