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Gene: Lrig1 MGI:107935

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Gene Summary

Name:
leucine-rich repeats and immunoglobulin-like domains 1
Synonyms:
LIG-1,  Img

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 1.74×10-07
decreased body weight Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 1.01×10-08
decreased total body fat amount Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 1.39×10-06
increased heart weight Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 1.92×10-05
abnormal behavior Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 4.99×10-05
abnormal skin condition Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 1.34×10-11
abnormal tail morphology Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 2.21×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote Ambiguous
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 50% (1 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

6 Images

View images
Legacy Phenotype Associated Images
Lrig1tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI

View all 50 images

Lrig1tm1a(EUCOMM)Wtsi
distorted hair follicle pattern, HOM, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
distorted hair follicle pattern, HOM, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
distorted hair follicle pattern, HOM, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
distorted hair follicle pattern, HOM, Female, WTSI

View all 6 images

Lrig1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Lrig1tm1a(EUCOMM)Wtsi
eye, persistence of hyaloid vascular system, abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Lrig1 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 Lrig1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:617115
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato... ORPHA:90368
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p... OMIM:620507
Keratosis Palmoplantaris Striata Ii
Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:602723
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy... ORPHA:505
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, ... OMIM:619208
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para... OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para... OMIM:242300
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis,... ORPHA:100976
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Crust... ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i... OMIM:618531
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Infantile Digital Fibromatosis
Parakeratosis, Epidermal acanthosis, Hyperkeratosis ORPHA:199267
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... ORPHA:2269
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Epidermal acanthosis, Hyp... OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis OMIM:617756
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Erythrod... OMIM:612281
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper... OMIM:601952
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider... OMIM:604777
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar ... OMIM:607602
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Scal... ORPHA:166113
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous... OMIM:113800
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal... ORPHA:64745
Vulvovaginal Gingival Syndrome
Erythema, Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus ORPHA:83453
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri... OMIM:615821
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper... ORPHA:79503
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Oligoarthritis, Cholan... OMIM:614204
Ichthyosis, Annular Epidermolytic, 2
Erythema, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Scaling skin OMIM:620148
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy OMIM:616487
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... ORPHA:2722
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ulerythema Ophryogenesis
Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos... ORPHA:3406
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Dowling-Degos Disease 4
Epidermal acanthosis, Pruritus, Hypergranulosis OMIM:615696
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis ORPHA:69125
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke... OMIM:212360
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... ORPHA:284426
Hidrotic Ectodermal Dysplasia
Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ... ORPHA:189
Ichthyosis With Confetti
Hypertrichosis, Ichthyosis, Hypoplastic nipples, Palmoplantar hyperkeratosis, Erythroderma, Scali... OMIM:609165
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Skin vesicle, Eryth... ORPHA:79481
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Recurrent ski... OMIM:615508
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Skin vesicle, Erythema migrans ORPHA:158681
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Cheilitis, Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Epidermal acanthosis, Follicula... OMIM:616295
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial... ORPHA:87503
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkl... ORPHA:498359
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp, Di... OMIM:617294
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... OMIM:607903
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Scleroderma, Morphea, Scaling skin, Pruritus ORPHA:90158
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Hypereosinophilia, ... OMIM:256500
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep... OMIM:133200
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Ichthyosis, Sclerosing cholangitis, Sparse ey... OMIM:607626
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm... OMIM:604536
Parana Hard Skin Syndrome
Generalized hirsutism, Thickened skin, Hyperkeratosis ORPHA:2812
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy... ORPHA:454
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Acral Peeling Skin Syndrome
Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin ORPHA:263534
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta... ORPHA:2199
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Absent toenail, Abnormal toenail... ORPHA:89838
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Atrophoderma Vermiculata
Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus ORPHA:79100
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma, Epidermal acanthosis OMIM:615022
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin, Patchy alope... OMIM:247100
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... OMIM:104100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Parakeratosis, Follicular hyperkerato... OMIM:615225
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Classic Mycosis Fungoides
Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkerato... ORPHA:2584
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair... ORPHA:2890
Acrokeratosis Verruciformis
Ridged nail, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholy... OMIM:101900
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Congenital bullous ichthyosiform ... ORPHA:312
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... OMIM:158000
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyelashes, Follicular hyper... ORPHA:477
Alopecia Universalis
Alopecia universalis, Atopic dermatitis, Psoriasiform dermatitis, Absent eyelashes, Patchy alopec... ORPHA:701
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera... OMIM:148700
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Leukonychia, Epidermal acanthosis, Hyperkerat... OMIM:617525
Erythrokeratodermia Variabilis
Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Skin ... ORPHA:317
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Alopecia of scalp, Epidermal acanthosis, Follicular hyperkeratosis, Erythroder... OMIM:608649
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Ichthyosis Vulgaris
Ichthyosis, Absent keratohyalin granules, Eczematoid dermatitis, Dry skin OMIM:146700
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Nail dystrophy, Palmar hyperkeratosis, Plantar hyperkeratosis, Pruritus, Hyperkeratosis ORPHA:79399
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... OMIM:615522
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Onycholysis, Onychomadesis, Arthritis, Nail pits OMIM:177900
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur... ORPHA:90280
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis OMIM:613943
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... OMIM:224750
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Ichthyosis, Inguinal hernia, Joint contracture, Scaling skin, Hyperkeratosis,... OMIM:614457
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Ep... ORPHA:79151
Moynahan Syndrome
Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Erythema OMIM:254400
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Woolly hair, Palmoplantar keratoderma OMIM:620415
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... ORPHA:573
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hyperkeratosis OMIM:618527
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair,... OMIM:618625
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Angular ch... OMIM:613102
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Peeling Skin Syndrome 1
Nail dystrophy, Eosinophilia, Onycholysis, Erythroderma, Scaling skin, Brittle hair, Pruritus OMIM:270300
Lichen Planopilaris
Alopecia, Hepatitis, Skin ulcer, Abnormal fingernail morphology, Onycholysis, Pruritus, Hyperkera... ORPHA:525
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Blepharitis, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyela... OMIM:602400
Dermoodontodysplasia
Dry skin, Trichodysplasia, Thin skin OMIM:125640
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Plantar h... ORPHA:79397
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Erythroderma, Epidermal acanthosis, Hyperkeratosis, Congenital n... OMIM:615023
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Nail dystrophy, Spar... OMIM:308800
Quinquaud Folliculitis Decalvans
Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre... ORPHA:346
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Focal frictio... ORPHA:2200
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Folliculitis, Keratitis, Nail dystrophy, Spar... OMIM:612843
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Lichen Planus Pemphigoides
Abnormality of the nail, Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis ORPHA:254478
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Blepharitis, Psoriasiform dermatitis, Ichthyosis OMIM:616834
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy... ORPHA:2897
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Atrophic scars, Sensorineural hearing impairment, Hernia, Elevated circulating creati... ORPHA:300179
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmoplantar scaling skin, Nail dystrophy, Sp... OMIM:605676
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Scaling skin OMIM:618373
Acute Generalized Exanthematous Pustulosis
Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltratio... ORPHA:293173
Lamellar Ichthyosis
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, P... ORPHA:313
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczematoid dermatitis OMIM:617443
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Psoriasiform lesion, Malar rash, Cheilitis, Hyperkeratosis ORPHA:163525
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Keratitis, Ichthyosis, Erythroderma, Pruritus, Abnormality of... ORPHA:79394
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, ... OMIM:242100
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Flynn-Aird Syndrome
Alopecia, Progressive sensorineural hearing impairment, Joint stiffness, Increased bone density w... OMIM:136300
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hyperke... ORPHA:494
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Neonatal Lupus Erythematosus
Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis ORPHA:398124
Congenital Disorder Of Glycosylation, Type If
Dry skin, Hyperkeratosis, Erythroderma, Scaling skin OMIM:609180
Proteus Syndrome
Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Spinal canal s... OMIM:176920
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Centrifugal Lipodystrophy
Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin ORPHA:90156
Darier Disease
Thickened skin, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic frag... ORPHA:218
Idiopathic Trachyonychia
Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Ichthyos... ORPHA:79153
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n... ORPHA:1010
Bullous Pemphigoid
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Erythema ORPHA:703
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Vertebral segmentation def... OMIM:277300
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Blepharitis, Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasi... ORPHA:294023
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Eczematoid dermatitis, Psoriasiform dermatitis, Patchy alopecia, Erythroder... OMIM:606367
X-Linked Dominant Chondrodysplasia Punctata
Low-set ears, Hypoplastic cervical vertebrae, Sparse eyelashes, Sensorineural hearing impairment,... ORPHA:35173
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis, Nail dystrophy OMIM:616106
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis, Ichthyosis ORPHA:461
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d... ORPHA:2251
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology ORPHA:89843
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Cutaneous Mastocytoma
Thickened skin, Erythema, Maculopapular exanthema, Scaling skin, Pruritus ORPHA:79455
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Scaling skin, Hyperke... ORPHA:454831
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... OMIM:616022
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Epidermal ac... ORPHA:38
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Recurrent... OMIM:615577
Aicardi-Goutieres Syndrome 5
Dry skin, Flexion contracture, Scaling skin, Arthropathy OMIM:612952
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... ORPHA:1809
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Impaired Intellectual Development And Psoriasis
Psoriasiform dermatitis OMIM:309480
Ullrich Congenital Muscular Dystrophy 1A
Hip dislocation, Scoliosis, Kyphosis, Failure to thrive, Slender build, Wrist hypermobility, Incr... OMIM:254090
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recu... ORPHA:158668
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv... OMIM:617337
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Multiple joint contractures, Joint hypermobility, Follicular hyperkeratosis, Recurrent ... ORPHA:486815
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Keratoconus Posticus Circumscriptus
Webbed neck, Recurrent urinary tract infections, Limited elbow extension and supination, Short ne... OMIM:244600
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma, Congenital bullous ichthyosifor... OMIM:613576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles te... OMIM:606612
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Chronic mucocutane... OMIM:618131
Isolated Klippel-Feil Syndrome
Webbed neck, Hearing impairment, Abnormality of the vertebral column, Abnormal cranial nerve morp... ORPHA:2345
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Webbed neck, Tarsal synostosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Flex... OMIM:618469
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Sl... OMIM:618535
Kbg Syndrome
Webbed neck, Bilateral conductive hearing impairment, Delayed skeletal maturation, Persistent ope... ORPHA:2332
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:1008
Chromomycosis
Hyperkeratotic papule, Keratitis, Hyperparakeratosis, Keratoconjunctivitis sicca, Pruritus, Hyper... ORPHA:182
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Low-set ears, Hearing impairment, Carpal synostosis, Hip contracture, Short neck, Tarsal synostos... OMIM:178110
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Osteomyelitis, Joint swelling, Elevated ci... OMIM:612852
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Neuropathy, Hereditary Sensory, Type If
Osteomyelitis, Hyperkeratosis OMIM:615632
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency 49
Cutis laxa, Eosinophilia, Psoriasiform dermatitis, Hirsutism OMIM:617237
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Sacroiliac arthritis, Malar rash, Psoriasiform dermatitis, Skin rash, Psoriasiform lesio... ORPHA:85436
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Palmoplantar keratoderma, Nail dystrophy, Lack of skin elasticity ORPHA:1366
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Basan Syndrome
Palmoplantar keratoderma, Nail dystrophy, Flexion contracture of digit, Epidermal acanthosis, Pal... OMIM:129200
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Atopic dermatitis, Inflammation of the large intestine, Pneumonia, Eczematoid... ORPHA:436159
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials, Ichthyosis, Elevated circulating creatine k... ORPHA:79323
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Specific Granule Deficiency 2
Low-set ears, Osteopenia, Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media,... OMIM:617475
Sjögren-Larsson Syndrome
Erythema, Dry skin, Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis ORPHA:816
Singleton-Merten Syndrome 2
Osteopenia, Joint subluxation, Psoriasiform lesion, Osteolytic defects of the phalanges of the ha... OMIM:616298
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Nail dystrophy, Anonychia, Epidermal acanthosis, Hyperkeratosis OMIM:616029
Wildervanck Syndrome
Webbed neck, Pseudopapilledema, Hearing impairment, Fused cervical vertebrae OMIM:314600
Congenital Disorder Of Glycosylation, Type Iq
Eczematoid dermatitis, Hypertrichosis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis OMIM:612379
Cardiofaciocutaneous Syndrome 3
Webbed neck, Failure to thrive, Short neck, Hyperhidrosis, Hyperkeratosis, Curly hair, Scoliosis,... OMIM:615279
Transgrediens Et Progrediens Palmoplantar Keratoderma
Thickened skin, Dystrophic toenail, Diffuse palmoplantar hyperkeratosis, Dystrophic fingernails, ... ORPHA:495
Graft Versus Host Disease
Failure to thrive, Fasciitis, Hyperbilirubinemia, Dupuytren contracture, Recurrent gastroenteriti... ORPHA:39812
Odontoonychodermal Dysplasia
Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Epidermal a... OMIM:257980
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Lipoid Proteinosis
Acne, Thickened skin, Alopecia of scalp, Pustule, Hyperkeratosis ORPHA:530
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Atopic dermatitis, Pneumonia, Rheumatoid arthritis, Bronchiectasis, Recurrent ... ORPHA:183675
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Alopecia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Oste... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Dry skin, Ichthyosis, Sparse eyel... OMIM:610768
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin... ORPHA:2309
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Ramon Syndrome
Conductive hearing impairment, Failure to thrive, Abnormal dental enamel morphology, Sensorineura... ORPHA:3019
H Syndrome
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Psoriasiform dermatitis, Ichthyosis, Scler... ORPHA:168569
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, White f... ORPHA:742
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Crohn's disease, Arthritis, B... OMIM:616100
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Low posterior hairline, Ventral hernia, Short neck, Hip dislocation, Macrotia, Osteop... OMIM:618000
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Dowling-Degos Disease
Hyperkeratotic papule, Acne inversa, Abnormal fingernail morphology, Skin vesicle, Arthritis, Pru... ORPHA:79145
Porphyria Cutanea Tarda
Alopecia, Scleroderma, Onycholysis, Facial hypertrichosis OMIM:176100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Alopecia, Orthokeratosis, Small nail, Congenital ichthyosiform erythroderma, Parakerato... OMIM:308050
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Eczematoid dermatitis, Breast aplasia, Trichorrhexis nodosa... ORPHA:238468
Sézary Syndrome
Alopecia, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Erythroderma, Pruritus ORPHA:3162
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Sepsis, Septic arthritis, Severe viral infection, Fasciitis, Recurre... ORPHA:36234
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Thin skin ORPHA:455
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles tendon contracture, V... OMIM:607155
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial... OMIM:603165
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo... OMIM:606545
Pseudopelade Of Brocq
Cheilitis, Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Recurrent skin ... ORPHA:129
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Low posterior hairline, Cervical... OMIM:214300
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Erythroderma, Ichthyosis OMIM:618840
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis, Nail dystrophy OMIM:181600
Chronic Mucocutaneous Candidiasis
Cheilitis, Erythema, Hepatitis, Skin ulcer, Abnormal fingernail morphology, Skin rash, Abnormal t... ORPHA:1334
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Klippel-Feil Syndrome 1, Autosomal Dominant
Webbed neck, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment,... OMIM:118100
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Recurrent sinusitis OMIM:617765
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
L-Ferritin Deficiency
Alopecia OMIM:615604
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Lymphatic Malformation 4
Toenail dysplasia, Hyperkeratosis OMIM:615907
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Recon Progeroid Syndrome
Thin skin, Dry skin, Hirsutism, Joint hypermobility, Attached earlobe, Scaling skin, Recurrent in... OMIM:620370
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Hyperkeratosis, Coarse hair ORPHA:1883
Leopard Syndrome 3
Webbed neck, Dry skin, Low posterior hairline, Curly hair, Hyperkeratosis, Epidermal hyperkeratosis OMIM:613707
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis OMIM:167200
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Wildervanck Syndrome
Webbed neck, Congenital sensorineural hearing impairment, Pseudopapilledema, Low posterior hairli... ORPHA:3456
Diffuse Cutaneous Mastocytosis
Thickened skin, Pruritus, Erythroderma, Scaling skin ORPHA:79456
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal fingernail morphology, Dry skin, Hypoplastic toenails, Onycholysis, Hyperkera... ORPHA:1028
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:793
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... ORPHA:248
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Hyperkeratosis, Fine hair ORPHA:1839
Combined Immunodeficiency-Enteropathy Spectrum
Thickened skin, Hepatitis, Psoriasiform dermatitis, Alopecia of scalp, Nail dystrophy, Hashimoto ... ORPHA:436252
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Epidermal hyperkeratosis OMIM:620483
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Recurrent pneumonia, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis,... ORPHA:293978
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Immunodeficiency 61
Recurrent otitis media, Obesity, Recurrent sinusitis, Recurrent bacterial infections, Recurrent r... OMIM:300310
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Rec... OMIM:616576
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Congenital ichthyosiform erythroderma ORPHA:457
Mycetoma
Abnormal form of the vertebral bodies, Painless fractures due to injury, Pathologic fracture, Ost... ORPHA:2583
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Hip contracture, Hernia, Short neck, Flexion c... OMIM:193700
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Hereditary Sensory And Autonomic Neuropathy Type 1
Decreased amplitude of sensory action potentials, Hearing impairment, Skin ulcer, Pathologic frac... ORPHA:36386
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Palmoplantar keratoderma, Ichthyosis, Erythroderma, Conjunctivitis, Sparse hair, Fragil... OMIM:242150
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Aplasia/Hypoplasia of the earlobes, Elbow dislocation, Abnormal form of the vertebral bodies, Abn... ORPHA:2916
Lig4 Syndrome
Psoriasiform dermatitis, Chronic sinusitis, Low anterior hairline OMIM:606593
Porphyria Cutanea Tarda
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypertric... ORPHA:101330
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscolios... ORPHA:313892
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair ORPHA:2850
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Osteopenia, Invasive fungal infection, Failure to thrive, Chr... ORPHA:98813
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Hearing impairment, Elbow dislocation, ... ORPHA:90650
Verheij Syndrome
Hip dislocation, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Sma... OMIM:615583
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:122600
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Small nail, Abnormal fingernail morphology, Nail dystrophy, Abnormal toena... ORPHA:79410
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tail banding, Nail dystrophy, Tricho... OMIM:601675
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Recurrent viral infections, Elevated haptoglobin level, Abnormal circulating cre... OMIM:620632
Bethlem Muscular Dystrophy
Ankle flexion contracture, Cigarette-paper scars, Interphalangeal joint contracture of finger, Ca... ORPHA:610
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma ORPHA:2698
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro... OMIM:601214
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Low-set ears, Webbed neck, Acetabular dysplasia, Low posterior hairline, Cervical C2/C3 vertebral... OMIM:616549
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Alopecia totalis, Anonychia, Acantholysis, Absent fingernail OMIM:609638
Darier-White Disease
Ridged nail, Subungual hyperkeratotic fragments, Acrokeratosis, Acantholysis, Pruritus OMIM:124200
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast apl... OMIM:308300
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal helix morphology, Synostosis of carpal bones, Scoliosis, Kyphosis, Abnormal de... ORPHA:1005
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Nail dystrophy, Ichthyosis, Sparse eyelashes, Nail dysplas... OMIM:148210
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Hearing impai... ORPHA:485
Aarskog-Scott Syndrome
Genu recurvatum, High anterior hairline, Umbilical hernia, Camptodactyly of finger, Low-set, post... ORPHA:915
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Omenn Syndrome
Pneumonia, Thickened skin, Alopecia, Dry skin, Eosinophilia, Erythroderma, Aplasia/Hypoplasia of ... ORPHA:39041
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Alopecia, Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor... ORPHA:659
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Noonan Syndrome 8
Webbed neck, Eczematoid dermatitis, Palmoplantar cutis laxa, Curly hair, Hyperkeratosis OMIM:615355
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Folliculitis, Nail dystrophy, Nail dysplasia,... OMIM:167210
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Dry skin, Psoriasiform dermatitis, Chron... ORPHA:69085
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Recurrent viral infections, Recurrent upper respiratory tract infections, Failure to th... ORPHA:169154
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Joint hypermobility, Follicular hyperkeratosis, Joint contracture, Scoliosis, Spinal ri... OMIM:617066
Linear Verrucous Nevus Syndrome
Genu recurvatum, Reduced bone mineral density, Hypophosphatemia, Hyperkeratosis, Scoliosis, Spars... ORPHA:2611
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent ... OMIM:604173
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Scoliosis, EEG abnormality, Fused thoracic vertebrae ORPHA:1445
Oliver-Mcfarlane Syndrome
Long eyelashes, Long eyebrows, Alopecia, Sparse hair OMIM:275400
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia, Ichthyosis OMIM:242510
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Hypertrichosis, Psoriasiform dermatitis, Low posterior hairline, Arthritis, Recurrent aspiration ... ORPHA:221139
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial infections, ... OMIM:613501
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Failure to thrive, Otitis media, ... ORPHA:275
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Recurrent bacterial infections OMIM:607624
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal a... ORPHA:330064
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic... OMIM:158310
Rhizomelic Chondrodysplasia Punctata
Dry skin, Alopecia, Ichthyosis, Sparse body hair ORPHA:177
Koolen-De Vries Syndrome
Kyphosis, Abnormal dental enamel morphology, Dry skin, Ichthyosis, Joint hypermobility, Protrudin... ORPHA:96169
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin ORPHA:2985
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Riddle Syndrome
Erythema, Recurrent pneumonia, Recurrent viral infections, Otitis media, Recurrent sinusitis, Wei... ORPHA:420741
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair, Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Para... ORPHA:83617
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Abnormal sacrum morphology, Scoliosis, Fused cervical vertebrae ORPHA:1436
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Excessiv... ORPHA:3051
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Infantile Systemic Hyalinosis
Osteopenia, Thickened skin, Failure to thrive, Skin ulcer, Osteomalacia, Camptodactyly of finger,... ORPHA:2176
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Alopecia, Subungual hyperkeratosis, Atrichia, Eczematoid dermatitis, Ker... OMIM:308205
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Sparse hair, H... ORPHA:1806
Myoectodermal Gonadal Dysgenesis Syndrome
Low-set ears, Highly arched eyebrow, Sparse pubic hair, Sparse eyebrow, Delayed skeletal maturati... OMIM:618419
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia OMIM:615704
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Joint dislocation, Increased susceptibility to fractures, Abnormal cervical curvatu... OMIM:312150
Pachyonychia Congenita 3
Palmoplantar keratoderma, Chapped lip, Onychogryposis of toenails, Nail dystrophy, Follicular hyp... OMIM:615726
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Eosinophilia, Ac... ORPHA:555905
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Membranoproliferative glomeruloneph... OMIM:137940
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Hypereosinophilia, Punctate keratitis, Keratoconjunctivitis sicca, Palmoplantar hyperke... OMIM:617388
Koolen-De Vries Syndrome
Hip dislocation, Kyphosis, Fair hair, Failure to thrive, Recurrent urinary tract infections, Sacr... OMIM:610443
Milroy Disease
Toenail dysplasia, Hyperkeratosis, Erysipelas ORPHA:79452
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Lateral Meningocele Syndrome
Low-set ears, Keloids, Coarse hair, Conductive hearing impairment, Umbilical hernia, Sclerosis of... OMIM:130720
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Fibrodysplasia Ossificans Progressiva
Alopecia, Conductive hearing impairment, Small cervical vertebral bodies, Ectopic ossification in... OMIM:135100
De Sanctis-Cacchione Syndrome
Conjunctivitis, Parakeratosis, Keratitis OMIM:278800
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, H... ORPHA:79501
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Enterocolitis OMIM:243150
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Failure to thrive, Chronic mucocutaneous candidiasis, Recurrent candi... ORPHA:572
Christian Syndrome
Thoracic hemivertebrae, Scoliosis, Prominent metopic ridge, Fused cervical vertebrae OMIM:309620
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Joint dislocation, Increased susceptibility to fractures, Abnormal cervical curvatu... OMIM:253290
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Skin ulcer, Osteomyelitis, Recurrent bacterial infections, Rec... OMIM:116920
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Charcot-Marie-Tooth Disease, Type 4C