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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
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
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
L-Ferritin Deficiency
Alopecia OMIM:615604
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Hypertrichosis, Congenital Generalized, 2
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Nail dystrophy, Ridged nail, Alopecia OMIM:601705
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Candidiasis, Familial, 1
Alopecia OMIM:114580
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Pseudopelade Of Brocq
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:129
Kerion Celsi
Alopecia ORPHA:499
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Absent pubic hair, Onycholysis of distal fingernails, Absent a... OMIM:619816
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis OMIM:302000
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,... ORPHA:248
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Delayed puberty, Sparse eyelashes, Hypohidrosis, Sparse eyebrow, Joint contractur... OMIM:615704
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Cortisone Reductase Deficiency 1
Hirsutism, Alopecia OMIM:604931
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Trachyonychia, Nail pits, Alopecia totalis ORPHA:700
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, ... OMIM:614594
Congenital Ichthyosiform Erythroderma
Abnormality of the nail, Erythroderma, Hypohidrosis, Short stature, Palmoplantar keratoderma, Pru... ORPHA:79394
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Skin rash, Short stature, Patc... ORPHA:317
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, S... OMIM:129500
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Trichotillomania
Alopecia OMIM:613229
Porphyria Cutanea Tarda
Onycholysis, Facial hypertrichosis, Alopecia OMIM:176100
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia ORPHA:1882
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Camptodactyly of finger, Fingernail dysplasia, Severe short stature... ORPHA:2251
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Absent eyelashes, Absent eyebrow, Eczemat... ORPHA:2890
Classic Mycosis Fungoides
Abnormality of the nail, Hyperkeratosis, Skin rash, Eczematoid dermatitis, Edema, Pruritus, Alopecia ORPHA:2584
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge... ORPHA:2325
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Oliver-Mcfarlane Syndrome
Alopecia, Long eyebrows, Sparse hair, Long eyelashes OMIM:275400
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratotic papule, Plantar hyperkerato... ORPHA:79397
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Flexion contracture of digit, Hyperkeratosis, Woolly hair... OMIM:619208
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Bathing Suit Ichthyosis
Nail dystrophy, Parakeratosis, Hypohidrosis, Sparse hair, Palmoplantar hyperkeratosis, Erythroder... ORPHA:100976
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Hyperkeratosis, Camptodactyly of finger, Palmoplantar hyperkerato... OMIM:212360
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Atopic dermatitis, Eczematoid dermat... OMIM:618282
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Flexion contracture, Sparse hair, Palmoplantar hyp... OMIM:242300
Sézary Syndrome
Nail dystrophy, Erythroderma, Abnormal pleura morphology, Palmoplantar keratoderma, Edema, Prurit... ORPHA:3162
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Sparse hair, Alopecia ORPHA:3363
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Lichen Planopilaris
Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Pruritus, Alopecia ORPHA:525
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Patchy alopecia, Camptodactyly of finger, Enamel hypoplasia, Palmar hyperhidrosis... OMIM:226650
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Ename... OMIM:612843
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hype... ORPHA:494
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Sparse hair, Pulmonary fibrosis, Recurrent respiratory infections, Fine hair, Alo... ORPHA:1839
Ichthyosis, Congenital, Autosomal Recessive 2
Thin nail, Abnormal hair morphology, Small nail, Hyperkeratosis, Hypohidrosis, Anhidrosis, Growth... OMIM:242100
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Sparse hair, Pili torti, Follicular hyp... OMIM:607903
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Nicolaides-Baraitser Syndrome
Curly eyelashes, Highly arched eyebrow, Long eyelashes, Eczematoid dermatitis, Abnormal hair patt... ORPHA:3051
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Eczematoid dermatitis, Sparse eyelashes, Hypohidrosis, Spar... OMIM:618535
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab... OMIM:607823
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Alopecia of scalp, Absent pubic hair, Sparse eyebrow, Absent axillary hair, Congenital alopecia t... ORPHA:2269
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Recurrent pneumonia, Recurrent sinopulmonary infections, Bronchiectasis, Rec... OMIM:616576
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Sparse eyelas... OMIM:602400
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis ORPHA:701
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Parakeratosis, Onychogryposis, Hyperkeratosis, Honeycomb palmoplantar hyperkerato... ORPHA:79395
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Severe short stature, Flexion contracture, Generalized hypop... OMIM:203550
Pachyonychia Congenita
Nail dystrophy, Palmoplantar keratoderma, Follicular hyperkeratosis, Onychogryposis of toenails, ... ORPHA:2309
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Sparse scalp hair, Ato... ORPHA:90368
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Dystrophic fingernails, Palmoplantar hyperkeratosis, Highly arched eyebrow, Abnor... ORPHA:3253
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Absent eyelashes, Pleural ... ORPHA:69735
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Neoplasm of the lung, Anhidrosis, Abnormal fingernail morphology, Sparse hair, Palmoplantar kerat... ORPHA:659
Netherton Syndrome
Trichorrhexis nodosa, Emphysema, Abnormal hair morphology, Skin rash, Dehydration, Sparse scalp h... ORPHA:634
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Palmoplantar h... OMIM:300918
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Hyperkeratosis, Hypohidrosis, Abnormal toenail morphology, Sev... ORPHA:1005
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Coarse hair, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail inf... OMIM:158310
Lipoid Proteinosis Of Urbach And Wiethe
Scarring, Hyperkeratosis, Patchy alopecia OMIM:247100
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Absent eyelashes, Lymphedema, Sparse scalp hair, Absent eyebrow, Sparse eyelashe... OMIM:137940
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu... ORPHA:251393
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia OMIM:614564
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Thick hair, Sparse eyelashes, Enamel hypoplasia, Sparse eyebrow, Sparse hair, Orth... OMIM:607626
Centrifugal Lipodystrophy
Lipoatrophy, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, Absence of sub... ORPHA:90156
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Abnormal finge... ORPHA:2930
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Atrichia, Short stature, Growth delay, Congenital abnormal hair pattern, Pneumoni... ORPHA:1867
Alpha-Heavy Chain Disease
Growth delay, Ascites, Alopecia ORPHA:100025
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Short stature, Fragile nails, Sparse hair, Palmoplantar keratoderma, Alopecia OMIM:242150
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmo... OMIM:605676
Omenn Syndrome
Erythroderma, Aplasia/Hypoplasia of the eyebrow, Pneumonia, Eosinophilia, Edema, Pruritus, Alopecia ORPHA:39041
Systemic Lupus Erythematosus 17
Malar rash, Alopecia OMIM:301080
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Nail dystrophy, Hypohidrosis, Short stature, Recurrent pneumonia, Recurrent skin infect... ORPHA:158668
X-Linked Agammaglobulinemia
Skin rash, Short stature, Abnormal lung morphology, Recurrent pneumonia, Recurrent cutaneous absc... ORPHA:47
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Scarring, Maculopapular exanthema, Breast apla... OMIM:308300
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Discoid lupus rash, Chilbl... OMIM:620321
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Neonatal death, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis OMIM:609638
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Pulmonary artery stenosis, Short stature, Intrauterine growth retar... ORPHA:75389
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Dystrophic fingernails, Atelectasis, Abnormal hair morphology, Skin rash, Eczematoid dermatitis, ... ORPHA:2314
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelia, Severe short stature, Flexion contracture, Alopecia OMIM:215100
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Sparse eyelashes, Sparse eyebrow, Inflammatory abnormality of the skin, Alopecia OMIM:610768
Incontinentia Pigmenti
Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Abnormal dental enamel... ORPHA:464
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Growth delay, Short stature, Sparse body hair, Alopecia ORPHA:177
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Short stature, Reduced subcutaneous adipose tissue, Limb joint contracture, Alop... OMIM:612079
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Renpenning Syndrome
Growth delay, Severe short stature, Thin eyebrow, Abnormal hairshaft morphology, Alopecia ORPHA:3242
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Hypomelanosis Of Ito
Alopecia OMIM:300337
Keutel Syndrome
Pulmonary artery stenosis, Short stature, Recurrent sinusitis, Recurrent respiratory infections, ... ORPHA:85202
Holocarboxylase Synthetase Deficiency
Growth delay, Eczematoid dermatitis, Perioral eczema, Alopecia ORPHA:79242
Mandibuloacral Dysplasia
Lipoatrophy, Postnatal growth retardation, Hypoplastic fingernail, Loss of subcutaneous adipose t... ORPHA:2457
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Short stature, Flexion contracture, Camptodactyly, Alopecia ORPHA:88630
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Hypohidrosis, Severe short stature, Sparse hair, Alopecia ORPHA:2316
Bleeding Disorder, Platelet-Type, 21
Eczematoid dermatitis, Psoriasiform dermatitis, Alopecia OMIM:617443
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormality of the nail, Severe postnatal growth retardation, Patchy ... ORPHA:35173
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Hirsutism, Acne, Alopecia OMIM:615830
Immunodeficiency, Common Variable, 10
Recurrent viral upper respiratory tract infections, Recurrent pneumonia, Recurrent sinusitis, Tra... OMIM:615577
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Nail dystrophy, Alopecia OMIM:618373
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Camptodactyly of toe, Absent to... ORPHA:158687
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Recurrent sinusitis, Recurrent lower respiratory tract infections, Recurrent upper resp... OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Eryth... ORPHA:169154
Pediatric Systemic Lupus Erythematosus
Malar rash, Skin rash, Discoid lupus rash, Pleural effusion, Ascites, Pericardial effusion, Edema... ORPHA:93552
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Pulmonary interstitial lymphocyte infiltration, Patchy alopecia, Eczema... OMIM:606367
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Bresek Syndrome
Intrauterine growth retardation, Neonatal death, Growth delay, Alopecia ORPHA:85284
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dysplasia, Nail dystrophy, Periungual erythema, Umbilical hernia, Oligohydramnios, Inguinal ... OMIM:308205
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Monosomy 18P
Short stature, Lymphedema, Low posterior hairline, Alopecia ORPHA:1598
Adams-Oliver Syndrome 2
Oligohydramnios, Small nail, Low anterior hairline, Alopecia OMIM:614219
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
H Syndrome
Delayed puberty, Recurrent pharyngitis, Upper eyelid edema, Camptodactyly, Short stature, Abnorma... ORPHA:168569
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hypoplastic fingernail, Hyperconvex fingernails ORPHA:257
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Erythema nodosum, Pleural ef... OMIM:612387
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of truncal subcutaneous adi... OMIM:608612
Abnormal Hair, Joint Laxity, And Developmental Delay
Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia OMIM:261990
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Fine hair, Oligohydramnios, Alopecia ORPHA:228390
Mixed Connective Tissue Disease
Abnormal pulmonary interstitial morphology, Pleuritis, Skin rash, Pulmonary fibrosis, Joint swell... ORPHA:809
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Aplastic/hypoplastic toenail, Abnormal eyelash morphol... ORPHA:1775
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Parakeratosis, Small nail, Hyperkeratosis, Short stature, Pulmonary hypoplasia, Flexi... OMIM:308050
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Recurrent pharyngitis, Recurrent bronchitis, Abnormality of the periungual region... ORPHA:293978
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Abnormal fingernail morphology, Emphysema ORPHA:1164
Hemochromatosis, Type 1
Pleural effusion, Ascites, Alopecia OMIM:235200
Acrodermatitis Enteropathica
Ridged nail, Abnormality of the nail, Short stature, Abnormal eyebrow morphology, Pustule, Ridged... ORPHA:37
Acute Interstitial Pneumonia
Peripheral edema, Atelectasis, Pleural effusion, Bronchiectasis, Pericardial effusion, Interlobul... ORPHA:79126
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Atopic dermatitis, Hypereosinophilia ORPHA:2902
Immunodeficiency 7
Hypereosinophilia, Chronic oral candidiasis, Recurrent respiratory infections, Patchy alopecia OMIM:615387
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Erythroderma, Eosinophilia, Eczematoid dermatitis, Alopecia OMIM:304790
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Nail dysplasia, Abnormal pulmonary interstitial morphology, Nail dystr... OMIM:613990
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Kury-Isidor Syndrome
Growth delay, Hypertrichosis, Alopecia OMIM:619762
Omenn Syndrome
Pneumonia, Eosinophilia, Erythroderma, Alopecia OMIM:603554
Macs Syndrome
Palpebral edema, Short stature, Sparse eyebrow, Sparse hair, Umbilical hernia, Bronchiectasis, Al... OMIM:613075
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Bronchopulmonary Dysplasia
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis ORPHA:70589
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... ORPHA:254361
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Hirsutism, Long eyelashes, Generalized edema, Edema, Fair hair, ... ORPHA:79330
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Nail dystrophy, Onychogryposis, Atrophic scars, Growth delay, Enamel hypoplasia, Palmop... ORPHA:79396
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Alopecia OMIM:616367
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Polyhydramnios, Inguinal hernia, Small nail, Absent eyelashes, Sparse scalp hair, Absent eyebrow,... ORPHA:544488
Systemic Sclerosis
Abnormal pulmonary interstitial morphology, Nail bed telangiectasia, Hypohidrosis, Flexion contra... ORPHA:90291
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Gomez-Lopez-Hernandez Syndrome
Short stature, Alopecia OMIM:601853
Waardenburg Syndrome Type 3
White hair, Camptodactyly of finger, Atelectasis, Thick eyebrow ORPHA:896
Adams-Oliver Syndrome
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Pulmonary artery atresia, Ascites, Absent f... ORPHA:974
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Chronic mucocutaneous candidiasis, Alopecia ORPHA:3453
Hutchinson-Gilford Progeria Syndrome
Growth delay, Absence of subcutaneous fat, Alopecia OMIM:176670
Frontonasal Dysplasia 2
Sparse eyelashes, Hypohidrosis, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair, Oligohy... OMIM:613451
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Small nail, Absent eyelashes, Absent eyebrow, Short stature, Intrauterine growth... ORPHA:166035
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Eczematoid dermatitis, Short stature, Enamel hypop... OMIM:212750
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hypoplastic fingernail, Inguinal hernia, Abnormal hair morphology, Hyperconvex fingernails, Abnor... ORPHA:2273
Rothmund-Thomson Syndrome
Nail dysplasia, Palmar hyperkeratosis, Small nail, Malar rash, Abnormal dental enamel morphology,... ORPHA:2909
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Severe short stature, Lipodystrophy, Sparse h... ORPHA:3163
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia OMIM:620651
Mandibuloacral Dysplasia With Type A Lipodystrophy
Postnatal growth retardation, Onychogryposis, Loss of subcutaneous adipose tissue in limbs, Incre... OMIM:248370
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Atrophic scars, Corneal scarring, Growth delay, Enamel hypoplasia... OMIM:226600
Gapo Syndrome
Palpebral edema, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Umbilical hernia,... ORPHA:2067
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Eczematoid dermatitis, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:37042
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Alopecia ORPHA:3224
Johanson-Blizzard Syndrome
Short stature, Abnormal hair pattern, Edema, Intrauterine growth retardation, Alopecia ORPHA:2315
Ane Syndrome
Lipoatrophy, Delayed puberty, Short stature, Multiple joint contractures, Alopecia ORPHA:157954
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Nail dystrophy, Chronic mucocutaneous candidiasis, Enamel hypoplasia, A... OMIM:240300
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Bartsocas-Papas Syndrome
Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hypoplastic toen... ORPHA:1234
Birt-Hogg-Dubé Syndrome
Pneumothorax, Multiple lipomas, Pulmonary sequestration, Emphysema ORPHA:122
Dermatomyositis
Abnormal pulmonary interstitial morphology, Periorbital edema, Abnormal hair quantity, Skin rash,... ORPHA:221
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Nail dystrophy, Ridged nail, Nail pits, Sparse hair, Pulmonary fibrosi... OMIM:127550
Hypocomplementemic Urticarial Vasculitis
Emphysema, Skin rash, Pleural effusion, Ascites, Angioedema, Pericardial effusion, Pruritus ORPHA:36412
Giant Cell Arteritis
Hyperhidrosis, Recurrent pharyngitis, Abnormal pleura morphology, Alopecia ORPHA:397
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Patchy alopecia ORPHA:85279
Biotinidase Deficiency
Seborrheic dermatitis, Skin rash, Recurrent skin infections, Alopecia OMIM:253260
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Alopecia ORPHA:412057
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia ORPHA:453533
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Alopecia OMIM:175500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Juvenile Dermatomyositis
Palpebral edema, Skin rash, Pulmonary fibrosis, Pruritus, Alopecia ORPHA:93672
Satoyoshi Syndrome
Alopecia universalis, Sparse or absent eyelashes, Abnormal hair morphology ORPHA:3130
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Low posterior hairline, Lack of facial subcutaneous fat, Short stature, Multiple... ORPHA:2959
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Encephalocraniocutaneous Lipomatosis
Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma, Peripheral pulmonary artery... OMIM:613001
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Abnormal adipose tissue morphology, Alopecia ORPHA:93160
Holocarboxylase Synthetase Deficiency
Skin rash, Alopecia OMIM:253270
Leigh Syndrome
Eczematoid dermatitis, Frontal hirsutism, Growth delay, Intrauterine growth retardation, Multiple... ORPHA:506
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Intrauterine growth retardation, Aspiration pneumonia ORPHA:70588
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Anhidrosis, Sparse body hair... OMIM:106260
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Inguinal hernia, Abnor... ORPHA:2092
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Nail dystrophy, Generalized lipodystrophy, Abnormal hair morphology, Short statu... ORPHA:90154
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Polyhydramnios, Rhizomelia, Patchy alopecia, Sparse eyelashes, Spar... OMIM:302960
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, ... OMIM:614008
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Atypical Werner Syndrome
Premature graying of hair, Lipoatrophy, Delayed puberty, Generalized lipodystrophy, Chondrocalcin... ORPHA:79474
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Acne, Hirsutism, Short stature, Alopecia ORPHA:90795
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Hirsutism, Acne, Alopecia ORPHA:189427
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Recurrent bronchopulmonary infections, Eczematoid dermatitis, Recurrent pneu... OMIM:242700
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Neonatal death, Atelectasis OMIM:300219
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Nail dystrophy, Pyoderma, Abnormality of the nail, Dehydration, Growth delay, Ename... ORPHA:79404
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Abnormal fingernail morphology, Alopecia ORPHA:1647
Limb-Mammary Syndrome
Nail dysplasia, Breast aplasia, Hypoplastic nipples, Absent nipple, Hypohidrosis, Bilateral breas... ORPHA:69085
Adrenoleukodystrophy
Alopecia OMIM:300100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Alopecia of scalp, Growth delay, Abnormal eyebrow morphology,... ORPHA:2232
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Lipoatrophy, Emphysema, Absent eyelashes, Absent eyebrow, Sparse hair,... ORPHA:363618
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Lujo Hemorrhagic Fever
Atelectasis, Skin rash, Generalized edema, Hyperhidrosis, Cerebral edema, Periorbital edema, Faci... ORPHA:319213
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Emphysema OMIM:210050
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Dyskeratosis Congenita, Digenic
Nail dystrophy, Sparse eyelashes, Short stature, Intrauterine growth retardation, Alopecia OMIM:620040
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Pterygium of nails, Ridged nail, Sparse eyelashes, Sho... OMIM:305000
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Growth delay, Alopecia OMIM:163200
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Nail dystrophy, Absent eyelashes, Sparse scalp hair, Absent eyebrow, S... OMIM:268400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Alopecia OMIM:210210
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, Hypoplastic nipples, Sparse eyelashes, Growth delay, Sparse ey... OMIM:230740
Biotinidase Deficiency
Skin rash, Eczematoid dermatitis, Alopecia ORPHA:79241
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Absent eyelashes, Short stature, Abnormal eyebrow morphology, Flexion contracture... ORPHA:90153
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Hypophosphatasia
Short stature, Emphysema ORPHA:436
Kikuchi-Fujimoto Disease
Abnormal pulmonary interstitial morphology, Palpebral edema, Malar rash, Skin rash, Pleural effus... ORPHA:50918
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Recurrent sinopulmonary infec... ORPHA:244
Farber Disease
Hydrops fetalis, Atelectasis, Ascites, Short stature, Joint swelling, Flexion contracture, Recurr... ORPHA:333
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Atelectasis, Inguinal hernia, Hypoplastic nipples, Ascites, Omphalocele, Neonatal... OMIM:269860
Autosomal Dominant Hypocalcemia
Abnormality of the nail, Eczematoid dermatitis, Abnormal fingernail morphology, Alopecia ORPHA:428
Leprosy
Loss of eyelashes, Hyperkeratosis, Absent eyebrow, Hypohidrosis, Sparse body hair, Alopecia ORPHA:548
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Sparse or absent eyelashes, Abnormal dental enamel morphology, Short stature, Gro... ORPHA:221008
Bloom Syndrome
Severe postnatal growth retardation, Bronchitis, Skin rash, Patchy alopecia, Sparse eyelashes, Gr... ORPHA:125
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Hyperkeratosis, Eczematoid dermatitis, Recurrent respiratory infect... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Hyperkeratosis, Eczematoid dermatitis, Recurrent respiratory infect... ORPHA:363958
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Bronchitis, Panniculitis, Emphysema ORPHA:60
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Nail dystrophy, Emphysema, Pulmonary fibrosis OMIM:620365
Lymphangioleiomyomatosis
Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylopericardium, Chyloth... ORPHA:538
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Enamel hypoplasia, Alopecia universalis OMIM:277440
Insulin-Resistance Syndrome Type B
Pneumonia, Skin rash, Hirsutism, Alopecia ORPHA:2298
Meier-Gorlin Syndrome 4
Breast hypoplasia, Emphysema, Short stature, Intrauterine growth retardation, Birth length less t... OMIM:613804
Hallermann-Streiff Syndrome
Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alo... ORPHA:2108
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Pericardial effusion, Intrauterine growth retardation OMIM:618775
Rothmund-Thomson Syndrome Type 2
Nail dysplasia, Sparse or absent eyelashes, Abnormal dental enamel morphology, Short stature, Gro... ORPHA:221016
Bartsocas-Papas Syndrome 1
Inguinal hernia, Small nail, Absent eyelashes, Sparse scalp hair, Omphalocele, Absent eyebrow, Fl... OMIM:263650
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Inguinal hernia, Morgagni diaphragmatic hernia, Ascites, Growth delay, Re... OMIM:613177
Sarcoidosis
Pneumothorax, Scarring, Emphysema, Chylothorax, Erythema nodosum, Pleural effusion, Abnormal lung... ORPHA:797
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Pericardial effusion, Widened atrophic scar, Umbilical hernia, C... ORPHA:536532
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Patchy alopecia, Short stature, Thick eyebrow, Flexion contracture, Recurrent upper respiratory t... OMIM:300534
Porphyria, Congenital Erythropoietic
Loss of eyelashes, Alopecia, Corneal scarring, Absent eyebrow, Short stature, Atypical scarring o... OMIM:263700
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Discoid lupus rash, Pleural effusion, Recurrent bacterial skin infections, Ascites, ... OMIM:306400
Distal Deletion 19P
Vaginal hernia, Thick eyebrow, Umbilical hernia, Keloids, Alopecia ORPHA:96129
Neutral Lipid Storage Disease With Ichthyosis
Short stature, Alopecia ORPHA:98907
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Disproportionate short-limb short stature, Long eyelashes, Camptodactyly of fing... ORPHA:1507
Ellis Van Creveld Syndrome
Nail dysplasia, Neonatal short-limb short stature, Emphysema, Abnormal hair morphology, Abnormali... ORPHA:289
Xeroderma Pigmentosum
Short stature, Hyperkeratosis, Alopecia ORPHA:910
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Autoimmune Polyendocrine Syndrome, Type Ii
Chronic mucocutaneous candidiasis, Alopecia OMIM:269200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... OMIM:620233
Chand Syndrome
Hypohidrosis, Atelectasis, Nail dysplasia, Curly hair ORPHA:1401
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Alopecia of scalp, Broad eyebrow, Small nail, Absent eyelashes, Sparse scalp hair, A... OMIM:264090
Autoimmune Polyendocrinopathy Type 4
Abnormal pulmonary interstitial morphology, Xerostomia, Alopecia ORPHA:227990
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Atelectasis, Repeated pneumothoraces, Atrophic scars, Pulmonary hyp... ORPHA:536467
Autosomal Dominant Robinow Syndrome
Curly eyelashes, Inguinal hernia, Femoral hernia, Long eyelashes, Onychogryposis of fingernail, C... ORPHA:3107
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Atelectasis, Highly arched eyebrow, Pulmonary artery atresia, Synophrys, Long ey... OMIM:620371
Chronic Graft Versus Host Disease
Pneumothorax, Nail dystrophy, Alopecia, Pleural effusion, Ascites, Onycholysis, Flexion contractu... ORPHA:99921
Autoimmune Polyendocrinopathy Type 3
Abnormal pulmonary interstitial morphology, Xerostomia, Alopecia ORPHA:227982
Orofaciodigital Syndrome I
Short stature, Enamel hypoplasia, Sparse hair, Dry hair, Alopecia OMIM:311200
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Atelectasis, Bronchiectasis OMIM:244400
Colchicine Poisoning
Dehydration, Alopecia ORPHA:31824
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Palpebral edema, Breast aplasia, Patchy alopecia, Hypohidrosis, Short stature, Sp... OMIM:181270
Alstrom Syndrome
Short stature, Recurrent pneumonia, Alopecia OMIM:203800
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Inguinal hernia, Oligohydramnios, Umbilical hernia, R... OMIM:219100
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Multiple lipomas, Lipodystrophy, Alopecia ORPHA:2396
Phakomatosis Pigmentokeratotica
Hyperhidrosis, Patchy alopecia, Lymphedema ORPHA:2874
Zygomycosis
Pneumothorax, Unusual skin infection, Atelectasis, Acute infectious pneumonia, Pleural effusion, ... ORPHA:73263
Linear Nevus Sebaceus Syndrome
Growth delay, Alopecia ORPHA:2612
Fabry Disease
Delayed puberty, Emphysema, Hyperkeratosis, Lymphedema, Hypohidrosis, Short stature ORPHA:324
Woodhouse-Sakati Syndrome
Fine hair, Sparse hair, Alopecia OMIM:241080
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Polyhydramnios, Emphysema, Inguinal hernia, Contracture ... OMIM:619472
Orofaciodigital Syndrome Type 1
Brittle hair, Abnormal dental enamel morphology, Sparse hair, Coarse hair, Alopecia ORPHA:2750
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Cerebral edema, Flexion contracture, I... ORPHA:258
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Delayed puberty, Hyperconvex fingernails, Lymphedema, Low posterior... ORPHA:99413
Turner Syndrome
Postnatal growth retardation, Delayed puberty, Hyperconvex fingernails, Lymphedema, Low posterior... ORPHA:881
Mosaic Monosomy X
Postnatal growth retardation, Delayed puberty, Hyperconvex fingernails, Lymphedema, Low posterior... ORPHA:99228
Monosomy X
Postnatal growth retardation, Delayed puberty, Hyperconvex fingernails, Lymphedema, Low posterior... ORPHA:99226
Whim Syndrome
Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re... ORPHA:51636
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Atelectasis, Inguinal hernia, Abnormal dental enamel morphology, Dehydration, Sp... ORPHA:534
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Alopecia of scalp, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Inguinal he... OMIM:130050
Relapsing Polychondritis
Atelectasis, Alopecia ORPHA:728
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Sparse hair, Umbilical hernia, Edema of the dorsum of feet, Rhiz... OMIM:601803
Systemic Lupus Erythematosus
Malar rash, Discoid lupus rash, Alopecia ORPHA:536
Meier-Gorlin Syndrome 1
Breast hypoplasia, Emphysema, Camptodactyly, Long eyelashes, Flexion contracture, Hyperconvex nai... OMIM:224690
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Acne, Atelectasis, Polyhydramnios, Inguinal hernia, Abnormal dental ename... ORPHA:567
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Loss of eyelashes, Severe short stature, Thin eyebrow, Sparse hair, Intrauterine growth retardati... ORPHA:2636
Behcet Syndrome
Erythema nodosum, Patchy alopecia OMIM:109650
Adams-Oliver Syndrome 1
Pulmonary artery stenosis, Small nail, Supernumerary nipple, Alopecia OMIM:100300
Sympathetic Ophthalmia
Poliosis, Alopecia ORPHA:79098
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Inguinal hernia, Ascites, Short stature, G... OMIM:613658
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Flexion contracture, Short stature, Alopecia OMIM:619321
Meier-Gorlin Syndrome 6
Delayed puberty, Emphysema, Severe short stature, Umbilical hernia, Recurrent respiratory infections OMIM:616835
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Inguinal hernia, Recurrent pneumonia, Intrauterine growth retardation, H... ORPHA:90349
Nocardiosis
Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia, Cellulitis, Cutaneous abscess ORPHA:31204
Steinert Myotonic Dystrophy
Polyhydramnios, Early balding, Alopecia ORPHA:273
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema, Inguinal hernia OMIM:614816
Woodhouse-Sakati Syndrome
Delayed puberty, Alopecia, Growth delay, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... ORPHA:95430
Common Variable Immunodeficiency
Emphysema, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory infections ORPHA:1572
Digeorge Syndrome
Acne, Atelectasis, Inguinal hernia, Seborrheic dermatitis, Femoral hernia, Short stature, Recurre... OMIM:188400
Ciliary Dyskinesia, Primary, 20
Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis,... OMIM:615067
Ring Chromosome 13 Syndrome
Growth delay, Alopecia ORPHA:96176
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Emphysema, Inguinal hernia, Bronchiolitis, Bronchiectasis, Hernia, ... ORPHA:90348
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Loss of eyelashes, Dystrophic toenail, Delayed menarche, Patchy alopecia,... ORPHA:740
Cutis Laxa, Autosomal Dominant 1
Emphysema, Inguinal hernia, Uterine prolapse, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
African Trypanosomiasis
Pruritus, Alopecia ORPHA:3385
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis, Flexion contracture ORPHA:365
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis OMIM:618278
Vascular Ehlers-Danlos Syndrome
Pneumothorax, Aplasia/Hypoplasia of the eyebrow, Pulmonary artery aneurysm, Inguinal hernia, Abno... ORPHA:286
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated bronchoalveolar... OMIM:181000
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Scarring, Pulmonary artery aneurysm, Emphysema, Inguinal hernia,... OMIM:614437
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Nail dysplasia, Nail dystrophy, Inguinal hernia, Brittle hair, R... OMIM:305600
Neonatal Marfan Syndrome
Lipoatrophy, Emphysema, Flexion contracture ORPHA:284979
Marfan Syndrome
Pneumothorax, Emphysema, Incisional hernia, Camptodactyly, Reduced subcutaneous adipose tissue, F... OMIM:154700
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Broad lateral eyebrow, Curly hair, Proportionate short stature, Sparse eyebrow, Unilat... ORPHA:500150
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Inguinal hernia, Spontaneous pneumothorax ORPHA:558
Keutel Syndrome
Recurrent bronchitis, Peripheral pulmonary artery stenosis, Emphysema, Pulmonary artery hypoplasia OMIM:245150

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

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