banner
Genes Phenotypes Help, News, Blog

Gene: Rassf9 MGI:2384307

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
Synonyms:
Pamci

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 Rassf9 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 Rassf9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
L-Ferritin Deficiency
Alopecia OMIM:615604
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Candidiasis, Familial, 1
Alopecia OMIM:114580
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Kerion Celsi
Alopecia ORPHA:499
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Growth delay, Pulmonary fibrosis, Nail ... OMIM:615704
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Congenital Ichthyosiform Erythroderma
Alopecia, Short stature, Pruritus, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Abnormal... ORPHA:79394
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis,... ORPHA:317
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Trichotillomania
Alopecia OMIM:613229
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Palmoplantar keratoderma, Nail ... ORPHA:2890
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Camptodactyly of finger, Palmoplantar keratoderma, Fingernail dys... ORPHA:2251
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Edema, Pruritus, Hyperkeratosis, Abnormality of the nail ORPHA:2584
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... ORPHA:79397
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyst... OMIM:212360
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Multiple joint contractures, Palmoplantar hyperkeratosis, Hypohidrosis, ... ORPHA:100976
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Nail dystrophy, Nail d... OMIM:242300
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... ORPHA:90368
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Recurrent skin infections, Eczema, Eosinophilia, Prur... OMIM:618282
Sézary Syndrome
Alopecia, Edema, Abnormal pleura morphology, Pruritus, Palmoplantar keratoderma, Nail dystrophy, ... ORPHA:3162
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Onycholysis ORPHA:525
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... OMIM:226650
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn... ORPHA:494
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Folliculitis, Palmoplanta... OMIM:612843
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Growth delay, Hyperkerat... OMIM:242100
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Fine hair, Hyperkeratosis, Pulmonary fibrosis, Sparse... ORPHA:1839
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pat... ORPHA:3051
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Severe short stature, Flexion contracture, Sev... OMIM:203550
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Alopecia, Recurrent skin infections, Recurrent pneumonia, Bro... OMIM:616576
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... OMIM:602400
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... ORPHA:2309
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype... ORPHA:79395
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Neoplasm of the lung, Palmoplantar keratode... ORPHA:659
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Abnormal dental enamel morphology, Moderate postnatal growth reta... ORPHA:1005
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Alopecia, Abnormal dental enamel morphology, Highly arched eyeb... ORPHA:3253
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... ORPHA:69735
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Scarring OMIM:247100
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... ORPHA:2930
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Orthokeratosis, ... OMIM:607626
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,... ORPHA:90156
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Coarse... OMIM:158310
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema... OMIM:137940
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Alpha-Heavy Chain Disease
Growth delay, Alopecia, Ascites ORPHA:100025
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Short stature, Palmoplantar keratoderma, Erythroderma, Sparse hair, Fragile nails OMIM:242150
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Pal... OMIM:605676
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Short stature, Pneumonia, Growth delay, Nail dystroph... ORPHA:1867
Omenn Syndrome
Alopecia, Pneumonia, Edema, Eosinophilia, Pruritus, Erythroderma, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Systemic Lupus Erythematosus 17
Alopecia, Malar rash OMIM:301080
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Short stature, Scarring, Pruritus, Recurrent pneumonia, H... ORPHA:158668
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Short stature, Supernumerary nipple, Eosinophilia... OMIM:308300
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Short stature, Abnormal lung morpholo... ORPHA:47
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis OMIM:609638
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha... OMIM:129400
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Short stature, Pulmonary artery stenosis, Coarse hair, Nail dystrophy, In... ORPHA:75389
Rhizomelic Chondrodysplasia Punctata, Type 1
Flexion contracture, Alopecia, Severe short stature, Rhizomelia OMIM:215100
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair ORPHA:177
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis OMIM:610768
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Short stature, Delayed pub... OMIM:612079
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Short stature, Abnorma... ORPHA:464
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Growth delay, Thin eyebrow ORPHA:3242
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:620321
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Hypomelanosis Of Ito
Alopecia OMIM:300337
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Holocarboxylase Synthetase Deficiency
Growth delay, Alopecia, Eczema, Perioral eczema ORPHA:79242
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypohidrosis, Sparse hair ORPHA:2316
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Flexion contracture, Short stature, Camptodactyly ORPHA:88630
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema OMIM:617443
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Eosinophilia, Pruritus, Abnormal hair morpho... ORPHA:2314
Keutel Syndrome
Recurrent respiratory infections, Alopecia, Short stature, Pulmonary artery stenosis, Recurrent s... ORPHA:85202
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Acne, Hirsutism, Dorsocervical fat pad OMIM:615830
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrichia, Periungual erythema, Neonatal death, Dystrophic fingernails, Absent eyebrow, Alopecia, ... OMIM:308205
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai... ORPHA:158687
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent lower respiratory tract infections, Alopecia, Recurrent upper respiratory tract infecti... OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Eosinophilia, Recurrent upper respiratory tract infections, Erythroderma, Recurrent low... ORPHA:169154
Bresek Syndrome
Growth delay, Intrauterine growth retardation, Alopecia, Neonatal death ORPHA:85284
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti... OMIM:615577
Pediatric Systemic Lupus Erythematosus
Alopecia, Skin rash, Edema, Pericardial effusion, Discoid lupus rash, Malar rash, Pleural effusio... ORPHA:93552
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Erythroderma, Pulmonary inters... OMIM:606367
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Monosomy 18P
Alopecia, Short stature, Low posterior hairline, Lymphedema ORPHA:1598
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail, Oligohydramnios OMIM:614219
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
H Syndrome
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Short stature, Lipodystrophy, Rec... ORPHA:168569
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow OMIM:261990
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Alopecia, Fine hair, Oligohydramnios ORPHA:228390
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Mixed Connective Tissue Disease
Alopecia, Skin rash, Xerostomia, Abnormal pulmonary interstitial morphology, Joint swelling, Pulm... ORPHA:809
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Short stature, Flexion contracture, Hyperkeratosis, Mild intrauterine gr... OMIM:308050
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Short stature, Fine hair, Premature graying of hair, Growth delay, Pulmonary fibrosis, ... OMIM:613990
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Recurrent respiratory infections, Abnormal fingernail morp... ORPHA:1775
Hemochromatosis, Type 1
Alopecia, Pleural effusion, Ascites OMIM:235200
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Pustule, Paronychia, Ridged fi... ORPHA:37
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Alopecia, Eczema, Erythroderma OMIM:304790
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Kury-Isidor Syndrome
Growth delay, Alopecia, Hypertrichosis OMIM:619762
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Omenn Syndrome
Eosinophilia, Alopecia, Pneumonia, Erythroderma OMIM:603554
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Macs Syndrome
Alopecia, Short stature, Palpebral edema, Sparse eyebrow, Bronchiectasis, Sparse hair, Umbilical ... OMIM:613075
Immunodeficiency 7
Recurrent respiratory infections, Patchy alopecia, Hypereosinophilia, Chronic oral candidiasis OMIM:615387
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Skin rash, Sparse eyelashes, Alopecia totalis, Short stature, Facial edem... ORPHA:2909
Gomez-Lopez-Hernandez Syndrome
Alopecia, Short stature OMIM:601853
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Scarring, Growth delay, Atrophic scars, Palmoplantar keratod... ORPHA:79396
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... OMIM:248370
Systemic Sclerosis
Alopecia, Recurrent skin infections, Nail bed telangiectasia, Pruritus, Flexion contracture, Abno... ORPHA:90291
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis ORPHA:3453
Celiac Disease, Susceptibility To, 1
Alopecia, Short stature, Eczema, Postnatal growth retardation, Delayed puberty, Enamel hypoplasia OMIM:212750
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Polyhydramnios, H... ORPHA:544488
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Ascites, Pulmonary artery... ORPHA:974
Mogs-Cdg
Alopecia, Generalized edema, Polyhydramnios, Edema, Long eyelashes, Fair hair, Hirsutism, Pulmona... ORPHA:79330
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair, Intraut... OMIM:613451
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Short stature, Absent eyelashes, Small nail, Intrauter... ORPHA:166035
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Eczema, Recurrent r... ORPHA:2273
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pharyngitis, Recurrent upper respi... ORPHA:293978
Short Syndrome
Inguinal hernia, Alopecia, Severe short stature, Abnormal dental enamel morphology, Lipodystrophy... ORPHA:3163
Hutchinson-Gilford Progeria Syndrome
Growth delay, Alopecia, Absence of subcutaneous fat OMIM:176670
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus... ORPHA:79126
Gapo Syndrome
Alopecia, Sparse eyelashes, Palpebral edema, Short stature, Sparse eyebrow, Early balding, Growth... ORPHA:2067
Johanson-Blizzard Syndrome
Alopecia, Short stature, Abnormal hair pattern, Edema, Intrauterine growth retardation ORPHA:2315
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Inflammatory abnormality of the skin, Psoriasiform dermatitis, ... ORPHA:37042
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Ane Syndrome
Alopecia, Multiple joint contractures, Lipoatrophy, Short stature, Delayed puberty ORPHA:157954
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Chronic mucocutaneous candidiasis, Nail dystrophy, Chronic oral candidiasis, Enamel hyp... OMIM:240300
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Nail dystrophy, Na... OMIM:226600
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypersensitivity pneumonitis, Hypereosinophilia, Atopic dermatitis, Pleural effusion ORPHA:2902
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Biotinidase Deficiency
Recurrent skin infections, Alopecia, Skin rash, Seborrheic dermatitis OMIM:253260
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr... OMIM:127550
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, Short stature, Camptodactyly of finger ORPHA:85279
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Alopecia ORPHA:412057
Giant Cell Arteritis
Recurrent pharyngitis, Alopecia, Abnormal pleura morphology, Hyperhidrosis ORPHA:397
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Edema, Pulmonary edema OMIM:267450
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Waardenburg Syndrome Type 3
Atelectasis, White hair, Camptodactyly of finger, Thick eyebrow ORPHA:896
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Nail dystrophy, Nail dysplasia OMIM:175500
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Juvenile Dermatomyositis
Alopecia, Skin rash, Palpebral edema, Pruritus, Pulmonary fibrosis ORPHA:93672
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia ORPHA:453533
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Multiple joint contractures, Short stature, Lack of facial subcutaneous fat, Low poster... ORPHA:2959
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Del... ORPHA:90154
Asbestos Intoxication
Edema, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fib... ORPHA:2302
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash OMIM:253270
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm... OMIM:106260
Leigh Syndrome
Alopecia, Multiple joint contractures, Eczema, Growth delay, Intrauterine growth retardation, Fro... ORPHA:506
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Alopecia, Short stature ORPHA:93160
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Rhizomelia, Polyhydramnios, Edema, Sparse eyebrow, Postnatal growth retardation... OMIM:302960
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Alopecia, Lipoma, Multiple central nervous system lipomas, ... OMIM:613001
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Focal Dermal Hypoplasia
Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... ORPHA:2092
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Short stature, Lipoatrophy, Abnormal hair morphology, Abnormal ... ORPHA:79474
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Short stature, Acne, Hirsutism ORPHA:90795
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Acne, Hirsutism, Dorsocervical fat pad ORPHA:189427
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia ORPHA:1647
Alstrom Syndrome
Alopecia, Recurrent pneumonia, Short stature OMIM:203800
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Lipoatrophy, Sparse eyebrow, Flexio... OMIM:614008
Adrenoleukodystrophy
Alopecia OMIM:300100
Limb-Mammary Syndrome
Alopecia, Psoriasiform dermatitis, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast ... ORPHA:69085
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro... ORPHA:2232
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Recurrent skin infections, Pneumonia, Edema, Paronychia, Pneumothorax, Dehydration, Gro... ORPHA:79404
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Alopecia, Short stature OMIM:163200
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema,... ORPHA:363618
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Intrauterine growth retardation OMIM:620040
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, Nail dysplasia, Sp... OMIM:230740
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Pterygium of nails, Hyperhidr... OMIM:305000
Meconium Aspiration Syndrome
Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facia... ORPHA:221008
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Brea... ORPHA:90153
Biotinidase Deficiency
Alopecia, Eczematoid dermatitis, Skin rash ORPHA:79241
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Polyhydramnios OMIM:300219
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Abnormality of the nail ORPHA:428
Kikuchi-Fujimoto Disease
Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Abnormal pulmonary interstitial morpholo... ORPHA:50918
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Hypohidrosis, Hyperkeratosis, Sparse body hair ORPHA:548
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst ORPHA:2357
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facia... ORPHA:221016
Bloom Syndrome
Skin rash, Sparse eyelashes, Bronchitis, Pneumonia, Respiratory tract infection, Adipose tissue l... ORPHA:125
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Alopecia, Eczema, Postnatal growth retardation, Hyperkeratosis,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Alopecia, Eczema, Postnatal growth retardation, Hyperkeratosis,... ORPHA:363958
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Enamel hypoplasia, Alopecia universalis OMIM:277440
Lujo Hemorrhagic Fever
Maculopapular exanthema, Skin rash, Facial edema, Periorbital edema, Atelectasis, Hyperhidrosis, ... ORPHA:319213
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Intrauterine growth retardation, Alopecia totalis OMIM:618775
Insulin-Resistance Syndrome Type B
Alopecia, Skin rash, Pneumonia, Hirsutism ORPHA:2298
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... ORPHA:2108
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Abse... OMIM:263650
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Autoimmune Polyendocrinopathy Type 4
Alopecia, Xerostomia, Abnormal pulmonary interstitial morphology, Chronic mucocutaneous candidiasis ORPHA:227990
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Corneal scarring, Atypical scarring o... OMIM:263700
Autoimmune Polyendocrinopathy Type 3
Alopecia, Xerostomia, Abnormal pulmonary interstitial morphology, Chronic mucocutaneous candidiasis ORPHA:227982
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Alopecia, Widened atrophic scar, Inguinal hernia, Pericardial effusion, Celluliti... ORPHA:536532
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Polyhydramnios, Edema, Atelectasis, Hypoplastic nipples, Pulmonary ... OMIM:269860
Farber Disease
Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract ... ORPHA:333
Sarcoidosis
Alopecia, Maculopapular exanthema, Eosinophilia, Abnormal pleura morphology, Scarring, Erythema n... ORPHA:797
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Recurrent respiratory infections, Short stature, Recurrent upper respiratory tract infections, Fl... OMIM:300534
Distal Deletion 19P
Alopecia, Vaginal hernia, Umbilical hernia, Keloids, Thick eyebrow ORPHA:96129
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Short stature ORPHA:98907
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Alopecia, Inguinal hernia, Camptodactyly of finger, Long eyelas... ORPHA:1507
Xeroderma Pigmentosum
Hyperkeratosis, Alopecia, Short stature ORPHA:910
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Chronic mucocutaneous candidiasis OMIM:269200
Lymphangioleiomyomatosis
Recurrent respiratory infections, Lymphedema, Atelectasis, Emphysema, Pneumothorax, Chylopericard... ORPHA:538
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... OMIM:264090
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic hernia, Periorbital ... OMIM:613177
Autosomal Dominant Robinow Syndrome
Alopecia, Severe short stature, Short stature, Inguinal hernia, Curly eyelashes, Camptodactyly of... ORPHA:3107
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Discoid lupus rash, Atelectasis, Recurrent pneumonia, Eczema... OMIM:306400
Colchicine Poisoning
Alopecia, Dehydration ORPHA:31824
Orofaciodigital Syndrome I
Alopecia, Dry hair, Short stature, Sparse hair, Enamel hypoplasia OMIM:311200
Scalp-Ear-Nipple Syndrome
Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis,... OMIM:181270
Chand Syndrome
Curly hair, Atelectasis, Nail dysplasia, Hypohidrosis ORPHA:1401
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Pneumothorax, Xerostomia, Bronchiectasis, Flexion contracture, Bronchiolitis... ORPHA:99921
Linear Nevus Sebaceus Syndrome
Growth delay, Alopecia ORPHA:2612
Phakomatosis Pigmentokeratotica
Hyperhidrosis, Patchy alopecia, Lymphedema ORPHA:2874
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy ORPHA:2396
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Abnormal dental enamel morphology, Coarse hair, Sparse hair ORPHA:2750
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, ... ORPHA:536467
Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Malar rash ORPHA:536
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Short stature, Lymphedema, Hypoplastic toenails, Postna... ORPHA:99413
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Short stature, Lymphedema, Hypoplastic toenails, Postna... ORPHA:881
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Short stature, Lymphedema, Hypoplastic toenails, Postna... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Short stature, Lymphedema, Hypoplastic toenails, Postna... ORPHA:99226
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... OMIM:620233
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Viss Syndrome
Sparse scalp hair, Alopecia, Inguinal hernia, Short stature, Eczema, Polyhydramnios, Pneumothorax... OMIM:619472
Relapsing Polychondritis
Atelectasis, Alopecia ORPHA:728
Zygomycosis
Unusual skin infection, Fasciitis, Periorbital edema, Pustule, Atelectasis, Pneumothorax, Acute i... ORPHA:73263
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Severe short stature, Loss of eyelashes, Thin eyebrow, Sparse hair, Intrauterine growth... ORPHA:2636
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Increased connective tissue, Atelectasis, Flexion contracture, Recurrent lower respiratory tract ... ORPHA:258
Pallister-Killian Syndrome
Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flexion contracture... OMIM:601803
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Recurrent respiratory infections, Inguinal hernia, Short stature, Abnormal den... ORPHA:534
Behcet Syndrome
Erythema nodosum, Patchy alopecia OMIM:109650
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Adams-Oliver Syndrome 1
Pulmonary artery stenosis, Alopecia, Supernumerary nipple, Small nail OMIM:100300
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Alopecia, Flexion contracture, Short stature OMIM:619321
Steinert Myotonic Dystrophy
Early balding, Alopecia, Polyhydramnios ORPHA:273
22Q11.2 Deletion Syndrome
Inguinal hernia, Short stature, Acne, Polyhydramnios, Seborrheic dermatitis, Abnormal dental enam... ORPHA:567
Woodhouse-Sakati Syndrome
Growth delay, Alopecia, Aplasia/Hypoplasia of the eyebrow, Delayed puberty ORPHA:3464
Ring Chromosome 13 Syndrome
Growth delay, Alopecia ORPHA:96176
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Absence of subcutaneous fat, Patchy alopecia... ORPHA:740
African Trypanosomiasis
Pruritus, Alopecia ORPHA:3385
Vascular Ehlers-Danlos Syndrome
Alopecia, Uterine prolapse, Short stature, Inguinal hernia, Abnormality of hair texture, Abnormal... ORPHA:286
Focal Dermal Hypoplasia
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Short stature, Supernumerary nipple, Con... OMIM:305600
Digeorge Syndrome
Inguinal hernia, Acne, Short stature, Femoral hernia, Seborrheic dermatitis, Atelectasis, Recurre... OMIM:188400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis, Flexion contracture ORPHA:365
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067

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 Rassf9

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 Rassf9.

No publications found that use IMPC mice or data for Rassf9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rassf9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rassf9tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rassf9tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter